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<!--
|
||
UID=39319
|
||
ConceptID=C0085633
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Emotional lability</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39319</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0085633</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>emotional instability; Mood changes; Mood swings</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Mood swings (18963009); Emotional lability (18963009); Emotional instability (18963009); Emotionally labile (18963009); Labile in mood (18963009); Mood swing (18963009); Variable mood (18963009); Changeable mood (18963009); Unstable mood (18963009); Labile mood (18963009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000712">HP:0000712</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0085633[DISCUI]&test_type=Clinical" ref="ncbi_uid=39319">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=39319" ref="ncbi_uid=39319">V</a></span></span><span class="TLline">Emotional lability</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span><ul><li><span class="TLline"><a href="/medgen/1056192" ref="tree=MeSH" title="MedGen record for Abnormal affect">Abnormal affect</a></span><ul><li><span class="TLline"><a href="/medgen/866603" ref="tree=MeSH" title="MedGen record for Abnormal emotional state">Abnormal emotional state</a></span><ul><li><span class="matched_ds">Emotional lability</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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||
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<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_41678"><div><strong>Familial dysautonomia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41678</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013364</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, autonomic crises (i.e., hypertensive vomiting attacks), recurrent pneumonia, altered pain sensitivity, altered temperature perception, and blood pressure instability. Hypotonia contributes to delay in acquisition of motor milestones. Optic neuropathy results in progressive vision loss. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Developmental delay / intellectual disability occur in about 21% of individuals. Life expectancy is decreased.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41678">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_4886"><div><strong>Gerstmann-Straussler-Scheinker syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4886</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0017495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4886">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_6723"><div><strong>Neutral 1 amino acid transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6723</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018609</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hartnup disorder (HND) is characterized by transient manifestations of pellagra, cerebellar ataxia, and psychosis. It is caused by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa (summary by Kleta et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6723">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_6915"><div><strong>Hereditary insensitivity to pain with anhidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6915</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020074</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NTRK1 congenital insensitivity to pain with anhidrosis (NTRK1-CIPA) is characterized by insensitivity to pain, anhidrosis (the inability to sweat), and intellectual disability. The ability to sense all pain (including visceral pain) is absent, resulting in repeated injuries including: oral self-mutilation (biting of tongue, lips, and buccal mucosa); biting of fingertips; bruising, scarring, and infection of the skin; multiple bone fractures (many of which fail to heal properly); and recurrent joint dislocations resulting in joint deformity. Sense of touch, vibration, and position are normal. Anhidrosis predisposes to recurrent febrile episodes that are often the initial manifestation of NTRK1-CIPA. Hypothermia in cold environments also occurs. Intellectual disability of varying degree is observed in most affected individuals; hyperactivity and emotional lability are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6915">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_6071"><div><strong>Metachromatic leukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6071</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023522</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile, juvenile, and adult MLD. The age of onset within a family is usually similar. The disease course may be from several years in the late-infantile-onset form to decades in the juvenile- and adult-onset forms. Late-infantile MLD: Onset is before age 30 months. Typical presenting findings include weakness, hypotonia, clumsiness, frequent falls, toe walking, and dysarthria. Language, cognitive, and gross and fine motor skills regress as the disease progresses. Later signs include spasticity, pain, seizures, and compromised vision and hearing. In the final stages, children have tonic spasms, decerebrate posturing, and general unawareness of their surroundings. Juvenile MLD: Onset is between age 30 months and 16 years. Initial manifestations include a decline in school performance and the emergence of behavioral problems, followed by gait disturbances. Progression is similar to but slower than in the late-infantile form. Adult MLD: Onset occurs after the age of 16 years, sometimes not until the fourth or fifth decade. Initial signs can include problems in school or job performance, personality changes, emotional lability, or psychosis; in others, neurologic symptoms (weakness and loss of coordination progressing to spasticity and incontinence) or seizures predominate initially. Peripheral neuropathy is common. The disease course is variable, with periods of stability interspersed with periods of decline, and may extend over two to three decades. The final stage is similar to earlier-onset forms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6071">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_65085"><div><strong>Velocardiofacial syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65085</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0220704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65085">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_66355"><div><strong>Hereditary acrodermatitis enteropathica</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66355</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221036</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acrodermatitis enteropathica of the zinc deficiency type (AEZ) is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive. Alopecia of the scalp, eyebrows, and eyelashes is a usual feature. The skin lesions are bullous. Noteworthy is the cure by diodoquin, or diiodohydroxyquinoline (Dillaha et al., 1953; Bloom and Sobel, 1955). Rodin and Goldman (1969) described autopsy findings, including pancreatic islet hyperplasia, absence of the thymus and of germinal centers, and plasmocytosis of lymph nodes and spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66355">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_66381"><div><strong>Pituitary dependent hypercortisolism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66381</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adrenocorticotropic hormone (ACTH) hypersecretion by corticotroph adenomas of the pituitary result in excess cortisol secretion, or Cushing disease. The clinical features of Cushing disease include central obesity, moon facies, 'buffalo hump,' diabetes, hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015). Mutations in the USP8 gene, leading to an upregulated epidermal growth factor receptor (EGFR; 131550) pathway, have been identified in about 36 to 62% of corticotroph adenomas (summary by Mete and Lopes, 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66381">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_97950"><div><strong>Troyer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97950</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0393559</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Troyer syndrome is characterized by progressive spastic paraparesis, dysarthria, pseudobulbar palsy, distal amyotrophy, short stature, and subtle skeletal abnormalities. Most affected children exhibit delays in walking and speech and difficulty in managing oral secretions, followed by increased lower-limb spasticity and slow deterioration in both gait and speech. Mild cerebellar signs are common. The most severely affected individuals have choreoathetosis. Emotional lability / difficulty in controlling emotions and affective disorders, such as inappropriate euphoria and/or crying, are frequently described. Life expectancy is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/97950">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98277"><div><strong>Chorea-acanthocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98277</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0393576</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VPS13A disease, caused by VPS13A loss-of-function pathogenic variants, is characterized by a spectrum of movement disorders (chorea, dystonia, tics, sometimes parkinsonism); predominant orofacial choreic and dystonic movements and tics (with involuntary tongue protrusion on attempted swallowing, habitual tongue and lip biting resulting in self-mutilation, involuntary vocalizations); dysarthria and dysphagia; psychiatric, cognitive, and behavioral changes ("frontal lobe type"); seizures; and progressive neuromuscular involvement. Huntingtonism (triad of progressive movement disorder and cognitive and behavioral alterations) is a typical presentation. Phenotypic variability is considerable even within the same family, including for monozygotic twins. Mean age of onset is about 30 years. VPS13A disease runs a chronic progressive course and may lead to major disability within a few years. Some affected individuals are bedridden or wheelchair dependent by the third decade. Age at death ranges from 28 to 61 years; several instances of sudden unexplained death or death during epileptic seizures have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98277">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_167096"><div><strong>X-linked intellectual disability with marfanoid habitus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167096</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0796022</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167096">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163232"><div><strong>X-linked intellectual disability-psychosis-macroorchidism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0796222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_220945"><div><strong>Deficiency of aromatic-L-amino-acid decarboxylase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220945</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1291564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with aromatic L-amino acid decarboxylase (AADC) deficiency typically have complex symptoms, including motor, behavioral, cognitive, and autonomic findings. Symptom onset is in early infancy, typically within the first six months of life. The most common initial symptoms are often nonspecific, and include feeding difficulties, hypotonia, and developmental delay. More specific symptoms include oculogyric crises (which occur in the vast majority of affected individuals, typically starting in infancy), movement disorders (especially dystonia), and autonomic dysfunction (excessive sweating, temperature instability, ptosis, nasal congestion, hypoglycemic episodes). Sleep disturbance is present in a majority of affected individuals and can include insomnia, hypersomnia, or both. Mood disturbance, including irritability and anxiety, are also common. Brain MRI is typically either normal or may demonstrate nonspecific abnormalities, such as mild diffuse cerebral atrophy or delayed myelination. Seizures are an uncommon finding, occurring in fewer than 5% of affected individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220945">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373138"><div><strong>Hereditary spastic paraplegia 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373138</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive (summary by Boukhris et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373138">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333393"><div><strong>Wilson-Turner syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333393</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wilson-Turner syndrome (WTS) is an X-linked recessive neurologic disorder characterized by intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Females are unaffected (Wilson et al., 1991).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333393">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334365"><div><strong>Cataract, congenital, with mental impairment and dentate gyrus atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334365</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334365">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375302"><div><strong>Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375302</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375302">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337334"><div><strong>X-linked intellectual disability Cabezas type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337334</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845861</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Cabezas type of X-linked syndromic intellectual developmental disorder is characterized primarily by short stature, hypogonadism, and abnormal gait, with other more variable features such as speech delay, prominent lower lip, and tremor (Cabezas et al., 2000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337334">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375796"><div><strong>Hereditary spastic paraplegia 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375796</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1846046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and optic atrophy (summary by Steinmuller et al., 1997). A locus for spastic paraplegia-16 has been mapped to Xq11.2-q23 (Steinmuller et al., 1997). For a discussion of genetic heterogeneity of X-linked spastic paraplegia, see 303350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375796">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341387"><div><strong>Hereditary spastic paraplegia 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341387</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849128</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia 15 (SPG15), typically an early-onset complex hereditary spastic paraplegia, is characterized by progressive spasticity that begins in the lower extremities and is associated with several manifestations resulting from central and peripheral nervous system dysfunction. While onset of spasticity is typically in mid- to late childhood or adolescence (i.e., between ages 5 and 18 years), other manifestations, such as developmental delay or learning disability, may be present earlier, often preceding motor involvement. Individuals with adult onset have also been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341387">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381211"><div><strong>Neuroferritinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381211</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neuroferritinopathy is an adult-onset progressive movement disorder characterized by chorea or dystonia and speech and swallowing deficits. The movement disorder typically affects one or two limbs and progresses to become more generalized within 20 years of disease onset. When present, asymmetry in the movement abnormalities remains throughout the course of the disorder. Most individuals develop a characteristic orofacial action-specific dystonia related to speech that leads to dysarthrophonia. Frontalis overactivity and orolingual dyskinesia are common. Cognitive deficits and behavioral issues become major problems with time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381211">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347456"><div><strong>ACTH-independent macronodular adrenal hyperplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347456</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth or sixth decade of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD; see 610489), which is often a component of the Carney complex (160980) and associated with mutations in the PRKAR1A gene (188830). AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). See also ACTH-independent Cushing syndrome (615830) due to somatic mutation in the PRKACA gene (601639). Cushing 'disease' (219090) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal Hyperplasia AIMAH2 (615954) is caused by germline mutation on 1 allele of the ARMC5 gene (615549) coupled with a somatic mutation in the other allele. AIMAH3 (620990) is caused by germline mutation on 1 allele of the KDM1A gene (609132) coupled with a somatic mutation in the other allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347456">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346658"><div><strong>Neurodegeneration with brain iron accumulation 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346658</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857747</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346658">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_347234"><div><strong>Angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347234</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347234">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400627"><div><strong>Pigmented nodular adrenocortical disease, primary, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400627</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary pigmented nodular adrenocortical disease (PPNAD) is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1; 160980), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Nodular Adrenocortical Disease See also PPNAD2 (610475), caused by mutation in the PDE11A gene (604961) on chromosome 2q31; PPNAD3 (614190), caused by mutation in the PDE8B gene (603390) on chromosome 5q13; and PPNAD4 (615830), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (601639).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400627">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355843"><div><strong>Pigmented nodular adrenocortical disease, primary, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355843</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355843">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358384"><div><strong>Dystonia 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358384</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1868681</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ATP1A3-related disorder consists of heterogenous overlapping clinical findings that pertain to the four most common historically defined phenotypes: alternating hemiplegia of childhood (AHC); cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS) syndrome; relapsing encephalopathy with cerebellar ataxia (RECA) / fever-induced paroxysmal weakness and encephalopathy (FIPWE); and rapid-onset dystonia-parkinsonism (RDP). These phenotypes exist on a spectrum and should be regarded as classifications of convenience. AHC is characterized by onset prior to age 18 months of paroxysmal hemiplegic episodes, predominately involving the limbs and/or the whole body, lasting from minutes to hours to days (and sometimes weeks) with remission only during sleep, only to resume after awakening. Although paroxysmal episodic neurologic dysfunction predominates early in the disease course, with age increasingly persistent neurologic dysfunction predominates, including oculomotor apraxia and strabismus, dysarthria, speech and language delay, developmental delay, and impairment in social skills. Other system involvement may include cardiovascular (cardiac conduction abnormalities) and gastrointestinal (constipation, vomiting, anorexia, diarrhea, nausea, and abdominal pain) manifestations. CAPOS syndrome presents in infancy or childhood (usually ages 6 months to 5 years) with cerebellar ataxia during or after a fever. The acute febrile encephalopathy may include hypotonia, flaccidity, nystagmus, strabismus, dysarthria/anarthria, lethargy, loss of consciousness, and even coma. Usually, considerable recovery occurs within days to weeks; however, persistence of some degree of ataxia and other manifestations is typical. RECA/FIPWE primarily presents with fever-induced episodes (infancy to age 5 years); however, first episodes can occur occasionally in young adults during illnesses such as mononucleosis. Recurrent fever-induced episodes may be ataxia-dominated RECA-like motor manifestations or FIPWE-like non-motor manifestations (encephalopathy) and can vary among affected individuals. Notably, RECA-like and FIPWE-like manifestations can occur in the same individual in different episodes. In some individuals episodes seem to decrease in frequency and severity over time, whereas others might experience worsening of manifestations. RDP presents in individuals ages 18 months to 60 years and older with dystonia that is typically of abrupt onset over hours to several weeks, though some individuals report gradual onset over the course of months. A stress-related trigger is identifiable in up to 75% of individuals. Dystonia rarely improves significantly after onset; some individuals report mild improvement over time, whereas others can experience subsequent episodes of abrupt worsening months to years after onset. Limbs are usually the first to be affected, although by the time of diagnosis – typically many years after onset – individuals most commonly display a bulbar-predominant generalized dystonia. Exceptions are common and a rostrocaudal gradient is rare rather than typical. Migraines and seizures are also observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358384">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358269"><div><strong>Multiple sclerosis, susceptibility to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358269</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1868685</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder of the central nervous system (CNS) with various degrees of axonal damage. MS affects mainly young adults with predominance for females. The disorder often leads to substantial disability (summary by Bomprezzi et al., 2003). Genetic Heterogeneity of Susceptibility to Multiple Sclerosis Additional MS susceptibility loci include MS2 (612594) on chromosome 10p15, MS3 (612595) on chromosome 5p13, MS4 (612596) on chromosome 1p36, and MS5 (614810), conferred by variation in the TNFRSF1A gene (191190) on chromosome 12p13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358269">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410166"><div><strong>Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1970848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410166">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382718"><div><strong>Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382718</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2675904</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For a detailed discussion of the WAGR syndrome, see 194072. In a subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is associated with haploinsufficiency for the BDNF gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382718">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383137"><div><strong>Amyotrophic lateral sclerosis type 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383137</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2677565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In this GeneReview, TARDBP amyotrophic lateral sclerosis-frontotemporal dementia (TARDBP-ALS-FTD) refers to the spectrum of phenotypes caused by pathogenic variants in TARDBP, the gene encoding TDP-43. The phenotypic spectrum encompasses pure (i.e., without other neurologic findings) amyotrophic lateral sclerosis (ALS; most common), pure (i.e., without other neurologic findings) frontotemporal dementia (FTD; rare), a combination of ALS and FTD, and atypical neurologic phenotypes (very rare). Individuals with the same TARDBP pathogenic variant (even within the same family) may have clinical features that vary in both type and severity. Common manifestations are dysarthria and dysphagia; less common manifestations can include parkinsonism, cognitive deterioration, and behavioral and psychological manifestations of dementia. Life expectancy for TARDBP-ALS is highly variable and mainly associated with an individual's clinical features; overall disease duration averages three to five years. For TARDBP-FTD, disease duration averages one to 16 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383137">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419177"><div><strong>Familial hypertryptophanemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419177</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital hypertryptophanemia, which is accompanied by hyperserotonemia, does not appear to have significant clinical consequences (Ferreira et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419177">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419518"><div><strong>Leigh syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419518</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leigh syndrome is a clinical diagnosis based primarily on characteristic brain imaging findings associated with progressive and severe neurodegenerative features with onset within the first months or years of life, sometimes resulting in early death. Affected individuals usually show global developmental delay or developmental regression, hypotonia, ataxia, dystonia, and ophthalmologic abnormalities, such as nystagmus or optic atrophy. The neurologic features are associated with the classic findings of T2-weighted hyperintensities in the basal ganglia and/or brainstem on brain imaging. Leigh syndrome can also have detrimental multisystemic affects on the cardiac, hepatic, gastrointestinal, and renal organs. Biochemical studies in patients with Leigh syndrome tend to show increased lactate and abnormalities of mitochondrial oxidative phosphorylation (summary by Lake et al., 2015). Genetic Heterogeneity of Nuclear Leigh Syndrome Leigh syndrome is a presentation of numerous genetic disorders resulting from defects in the mitochondrial OXPHOS complex. Accordingly, the genes implicated in Leigh syndrome most commonly encode structural subunits of the OXPHOS complex or proteins required for their assembly, stability, and activity. Mutations in both nuclear and mitochondrial genes have been identified. For a discussion of genetic heterogeneity of mitochondrial Leigh syndrome, see MILS (500017). Nuclear Leigh syndrome can be caused by mutations in nuclear-encoded genes involved in any of the mitochondrial respiratory chain complexes: complex I deficiency (see 252010), complex II deficiency (see 252011), complex III deficiency (see 124000), complex IV deficiency (cytochrome c oxidase; see 220110), and complex V deficiency (see 604273) (summary by Lake et al., 2015). Some forms of combined oxidative phosphorylation deficiency (COXPD) can present as Leigh syndrome (see, e.g., 617664). Leigh syndrome may also be caused by mutations in components of the pyruvate dehydrogenase complex (e.g., DLD, 238331 and PDHA1, 300502). Deficiency of coenzyme Q10 (607426) can present as Leigh syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419518">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462275"><div><strong>Spastic ataxia 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462275</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150925</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic autosomal recessive spastic ataxia disease with characteristics of the onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Caused by homozygous mutation in the MTPAP gene on chromosome 10p11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462275">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482001"><div><strong>Neurodegeneration with brain iron accumulation 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482001</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3280371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482001">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762097"><div><strong>Mitochondrial complex III deficiency nuclear type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762097</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3541471</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival (de Lonlay et al., 2001; De Meirleir et al., 2003). Genetic Heterogeneity of Mitochondrial Complex III Deficiency Mitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 (615157), caused by mutation in the TTC19 gene (613814) on chromosome 17p12; MC3DN3 (615158), caused by mutation in the UQCRB gene (191330) on chromosome 8q; MC3DN4 (615159), caused by mutation in the UQCRQ gene (612080) on chromosome 5q31; MC3DN5 (615160), caused by mutation in the UQCRC2 gene (191329) on chromosome 16p12; MC3DN6 (615453), caused by mutation in the CYC1 gene (123980) on chromosome 8q24; MC3DN7 (615824), caused by mutation in the UQCC2 gene (614461) on chromosome 6p21; MC3DN8 (615838), caused by mutation in the LYRM7 gene (615831) on chromosome 5q23; MC3DN9 (616111), caused by mutation in the UQCC3 gene (616097) on chromosome 11q12; and MC3DN10 (618775), caused by mutation in the UQCRFS1 gene (191327) on chromosome 19q12. See also MTYCB (516020) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762097">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767139"><div><strong>Obesity due to leptin receptor gene deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767139</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3554225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (summary by Dehghani et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767139">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811566"><div><strong>Neuronal ceroid lipofuscinosis 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811566</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3715049</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neuronal ceroid lipofuscinosis-13 (CLN13) is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013). Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease (see 204300). In a review of the classification of CLN disease, Gardner and Mole (2021) noted that the CLN13 phenotype corresponds to 'Kufs type B', which is characterized by dementia and a variety of motor signs (Smith et al., 2013). For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (256730).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811566">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816174"><div><strong>Chromosome 22q13 duplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816174</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816174">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862851"><div><strong>Intellectual disability, autosomal dominant 24</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862851</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vulto-van Silfout-de Vries syndrome (VSVS) is an intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities, including autistic features and poor eye contact. Most patients have additional nonspecific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances (summary by Nabais Sa et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862851">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862862"><div><strong>Pigmented nodular adrenocortical disease, primary, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862862</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014425</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862862">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_864147"><div><strong>Tenorio syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864147</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tenorio syndrome (TNORS) is characterized by overgrowth, macrocephaly, and impaired intellectual development. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (270150) (summary by Tenorio et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/864147">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_897191"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897191</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225153</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897191">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895952"><div><strong>Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895952</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225395</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression and self-mutilation) and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum and prominent chin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895952">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934650"><div><strong>Intellectual disability-epilepsy-extrapyramidal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934650</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures (NEDHELS) is an autosomal recessive disorder characterized by hypotonia, poor feeding, and global developmental delay apparent from infancy. Most patients have poor overall growth, poor eye contact, sleep disturbances, and severely impaired expressive language. Affected individuals also tend to have behavioral problems, microcephaly, and variable dysmorphic features; many develop seizures. Brain imaging may show enlarged ventricles, thin corpus callosum and brainstem, and white matter abnormalities. The phenotype is variable (summary by Nabais Sa et al., 2019).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/934650">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_934722"><div><strong>Intellectual disability, autosomal recessive 54</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934722</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310755</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">MRT54 is an autosomal recessive disorder characterized by nonsyndromic impaired intellectual development (Anazi et al., 2016).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/934722">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1675664"><div><strong>Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675664</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) is characterized by global developmental delay apparent from infancy or early childhood, resulting in mildly delayed walking, variably impaired intellectual development, and poor or absent speech. Additional features may include hypotonia, spasticity, or ataxia. About half of patients have abnormal findings on brain imaging, including cerebral or cerebellar atrophy, loss of white matter volume, thin corpus callosum, and perisylvian polymicrogyria. Seizures are not a prominent finding, and although some patients may have nonspecific dysmorphic facial features, there is no common or consistent gestalt (summary by Platzer et al., 2019).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1675664">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794216"><div><strong>Neurodevelopmental disorder with impaired language and ataxia and with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794216</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5562006</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) is characterized by axial hypotonia and global developmental delay apparent in early infancy. Affected individuals have delayed walking with gait ataxia and poor language development. Behavioral abnormalities also commonly occur. The severity is highly variable: a subset of patients have a more severe phenotype with early-onset seizures resembling epileptic encephalopathy, inability to walk or speak, and hypomyelination on brain imaging (summary by Stolz et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794216">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809227"><div><strong>Chromosome Xq13 duplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809227</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5677057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809227">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1823993"><div><strong>Microcephaly 29, primary, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823993</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autosomal recessive primary microcephaly-29 (MCPH29) is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities. Affected individuals also have poor overall growth with short stature, mild dysmorphic facial features, and seizures (Khan et al., 2020). For a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823993">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1830482"><div><strong>Leukoencephalopathy with vanishing white matter 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830482</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5779972</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Childhood ataxia with central nervous system hypomyelination / vanishing white matter (CACH/VWM) is characterized by ataxia, spasticity, and variable optic atrophy. The phenotypic range includes a prenatal/congenital form, a subacute infantile form (onset age <1 year), an early childhood-onset form (onset age 1 to <4 years), a late childhood-/juvenile-onset form (onset age 4 to <18 years), and an adult-onset form (onset =18 years). The prenatal/congenital form is characterized by severe encephalopathy. In the later-onset forms initial motor and intellectual development is normal or mildly delayed, followed by neurologic deterioration with a chronic progressive or subacute course. While in childhood-onset forms motor deterioration dominates, in adult-onset forms cognitive decline and personality changes dominate. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma or major surgical procedures, or by acute and extreme fright.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830482">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841073"><div><strong>Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841073</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autosomal dominant intellectual developmental disorder-71 with behavioral abnormalities (MRD71) is a neurodevelopmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development. Almost all affected individuals show marked behavioral manifestations, including autism spectrum disorder (ASD), ADHD, hypersensitivity, and aggression. Many have dysmorphic features, although there is not a common gestalt (Harris et al., 2021).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841073">Condition Record</a></div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ACTH-independent macronodular adrenal hyperplasia 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis type 10</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334365" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract, congenital, with mental impairment and dentate gyrus atrophy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorea-acanthocytosis</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (53)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 22q13 duplication syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome Xq13 duplication syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of aromatic-L-amino-acid decarboxylase</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358384" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 12</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial dysautonomia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hypertryptophanemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4886" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gerstmann-Straussler-Scheinker syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66355" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary acrodermatitis enteropathica</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6915" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary insensitivity to pain with anhidrosis</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 15</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 16</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 26</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862851" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 24</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal recessive 54</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934650" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability-epilepsy-extrapyramidal syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419518" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leigh syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1830482" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy with vanishing white matter 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metachromatic leukodystrophy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823993" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly 29, primary, autosomal recessive</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex III deficiency nuclear type 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358269" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple sclerosis, susceptibility to</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 2B</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 4</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794216" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with impaired language and ataxia and with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1675664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuroferritinopathy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 13</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6723" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutral 1 amino acid transport defect</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Obesity due to leptin receptor gene deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmented nodular adrenocortical disease, primary, 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355843" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmented nodular adrenocortical disease, primary, 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmented nodular adrenocortical disease, primary, 4</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pituitary dependent hypercortisolism</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897191" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375302" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_864147" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tenorio syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_97950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Troyer syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Velocardiofacial syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382718" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wilson-Turner syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337334" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability Cabezas type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167096" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability with marfanoid habitus</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability-psychosis-macroorchidism syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
|
||
Ellis C,
|
||
Brassington R,
|
||
Sathasivam S,
|
||
Young CA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 May 20;5(5):CD006981.
|
||
doi: 10.1002/14651858.CD006981.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33612417">International Society for the Study of Women's Sexual Health (ISSWSH) Review of Epidemiology and Pathophysiology, and a Consensus Nomenclature and Process of Care for the Management of Persistent Genital Arousal Disorder/Genito-Pelvic Dysesthesia (PGAD/GPD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldstein I,
|
||
Komisaruk BR,
|
||
Pukall CF,
|
||
Kim NN,
|
||
Goldstein AT,
|
||
Goldstein SW,
|
||
Hartzell-Cushanick R,
|
||
Kellogg-Spadt S,
|
||
Kim CW,
|
||
Jackowich RA,
|
||
Parish SJ,
|
||
Patterson A,
|
||
Peters KM,
|
||
Pfaus JG</span><br />
|
||
<span class="medgenPMjournal">J Sex Med</span>
|
||
2021 Apr;18(4):665-697.
|
||
Epub 2021 Feb 19
|
||
doi: 10.1016/j.jsxm.2021.01.172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33612417" target="_blank">33612417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21914052">EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis:,
|
||
Andersen PM,
|
||
Abrahams S,
|
||
Borasio GD,
|
||
de Carvalho M,
|
||
Chio A,
|
||
Van Damme P,
|
||
Hardiman O,
|
||
Kollewe K,
|
||
Morrison KE,
|
||
Petri S,
|
||
Pradat PF,
|
||
Silani V,
|
||
Tomik B,
|
||
Wasner M,
|
||
Weber M</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2012 Mar;19(3):360-75.
|
||
Epub 2011 Sep 14
|
||
doi: 10.1111/j.1468-1331.2011.03501.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21914052" target="_blank">21914052</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22emotional%20lability%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (37)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36078582">A Systematic Review of Multiple Family Factors Associated with Oppositional Defiant Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin X,
|
||
He T,
|
||
Heath M,
|
||
Chi P,
|
||
Hinshaw S</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Aug 31;19(17)
|
||
doi: 10.3390/ijerph191710866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36078582" target="_blank">36078582</a><a href="/pmc/articles/PMC9517877" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
|
||
Ellis C,
|
||
Brassington R,
|
||
Sathasivam S,
|
||
Young CA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 May 20;5(5):CD006981.
|
||
doi: 10.1002/14651858.CD006981.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33250857">Novel Approaches for Treating Autonomously Functioning Thyroid Nodules.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pace-Asciak P,
|
||
Russell JO,
|
||
Shaear M,
|
||
Tufano RP</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2020;11:565371.
|
||
Epub 2020 Oct 30
|
||
doi: 10.3389/fendo.2020.565371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33250857" target="_blank">33250857</a><a href="/pmc/articles/PMC7673400" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28576350">Cannabinoids in attention-deficit/hyperactivity disorder: A randomised-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooper RE,
|
||
Williams E,
|
||
Seegobin S,
|
||
Tye C,
|
||
Kuntsi J,
|
||
Asherson P</span><br />
|
||
<span class="medgenPMjournal">Eur Neuropsychopharmacol</span>
|
||
2017 Aug;27(8):795-808.
|
||
Epub 2017 May 30
|
||
doi: 10.1016/j.euroneuro.2017.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28576350" target="_blank">28576350</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11122995">Personality in frontal lobe disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chow TW</span><br />
|
||
<span class="medgenPMjournal">Curr Psychiatry Rep</span>
|
||
2000 Oct;2(5):446-51.
|
||
doi: 10.1007/s11920-000-0031-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11122995" target="_blank">11122995</a><a href="/pmc/articles/PMC5786154" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emotional%20lability%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (324)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33250857">Novel Approaches for Treating Autonomously Functioning Thyroid Nodules.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pace-Asciak P,
|
||
Russell JO,
|
||
Shaear M,
|
||
Tufano RP</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2020;11:565371.
|
||
Epub 2020 Oct 30
|
||
doi: 10.3389/fendo.2020.565371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33250857" target="_blank">33250857</a><a href="/pmc/articles/PMC7673400" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28072907">Symptomatic treatments for amyotrophic lateral sclerosis/motor neuron disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng L,
|
||
Khan F,
|
||
Young CA,
|
||
Galea M</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2017 Jan 10;1(1):CD011776.
|
||
doi: 10.1002/14651858.CD011776.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28072907" target="_blank">28072907</a><a href="/pmc/articles/PMC6469543" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21914052">EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis:,
|
||
Andersen PM,
|
||
Abrahams S,
|
||
Borasio GD,
|
||
de Carvalho M,
|
||
Chio A,
|
||
Van Damme P,
|
||
Hardiman O,
|
||
Kollewe K,
|
||
Morrison KE,
|
||
Petri S,
|
||
Pradat PF,
|
||
Silani V,
|
||
Tomik B,
|
||
Wasner M,
|
||
Weber M</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2012 Mar;19(3):360-75.
|
||
Epub 2011 Sep 14
|
||
doi: 10.1111/j.1468-1331.2011.03501.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21914052" target="_blank">21914052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21496581">Sydenham's chorea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cardoso F</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2011;100:221-9.
|
||
doi: 10.1016/B978-0-444-52014-2.00014-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21496581" target="_blank">21496581</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3063394">Postviral fatigue syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Behan PO,
|
||
Behan WM</span><br />
|
||
<span class="medgenPMjournal">Crit Rev Neurobiol</span>
|
||
1988;4(2):157-78.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3063394" target="_blank">3063394</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emotional%20lability%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (324)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
|
||
Ellis C,
|
||
Brassington R,
|
||
Sathasivam S,
|
||
Young CA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 May 20;5(5):CD006981.
|
||
doi: 10.1002/14651858.CD006981.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28576350">Cannabinoids in attention-deficit/hyperactivity disorder: A randomised-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooper RE,
|
||
Williams E,
|
||
Seegobin S,
|
||
Tye C,
|
||
Kuntsi J,
|
||
Asherson P</span><br />
|
||
<span class="medgenPMjournal">Eur Neuropsychopharmacol</span>
|
||
2017 Aug;27(8):795-808.
|
||
Epub 2017 May 30
|
||
doi: 10.1016/j.euroneuro.2017.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28576350" target="_blank">28576350</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28072907">Symptomatic treatments for amyotrophic lateral sclerosis/motor neuron disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng L,
|
||
Khan F,
|
||
Young CA,
|
||
Galea M</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2017 Jan 10;1(1):CD011776.
|
||
doi: 10.1002/14651858.CD011776.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28072907" target="_blank">28072907</a><a href="/pmc/articles/PMC6469543" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26589880">Aripiprazole.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prommer E</span><br />
|
||
<span class="medgenPMjournal">Am J Hosp Palliat Care</span>
|
||
2017 Mar;34(2):180-185.
|
||
Epub 2016 Jul 10
|
||
doi: 10.1177/1049909115612800.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26589880" target="_blank">26589880</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26847689">The paradoxical psychological effects of lysergic acid diethylamide (LSD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carhart-Harris RL,
|
||
Kaelen M,
|
||
Bolstridge M,
|
||
Williams TM,
|
||
Williams LT,
|
||
Underwood R,
|
||
Feilding A,
|
||
Nutt DJ</span><br />
|
||
<span class="medgenPMjournal">Psychol Med</span>
|
||
2016 May;46(7):1379-90.
|
||
Epub 2016 Feb 5
|
||
doi: 10.1017/S0033291715002901.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26847689" target="_blank">26847689</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emotional%20lability%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (209)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35032032">CASPR2-IgG-associated autoimmune seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garrido Sanabria ER,
|
||
Zahid A,
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Britton J,
|
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Kraus GJ,
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López-Chiriboga AS,
|
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Zekeridou A,
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Flanagan EP,
|
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McKeon A,
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Mills JR,
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Pittock SJ,
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Dubey D</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Mar;63(3):709-722.
|
||
Epub 2022 Jan 15
|
||
doi: 10.1111/epi.17164.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35032032" target="_blank">35032032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28576350">Cannabinoids in attention-deficit/hyperactivity disorder: A randomised-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooper RE,
|
||
Williams E,
|
||
Seegobin S,
|
||
Tye C,
|
||
Kuntsi J,
|
||
Asherson P</span><br />
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<span class="medgenPMjournal">Eur Neuropsychopharmacol</span>
|
||
2017 Aug;27(8):795-808.
|
||
Epub 2017 May 30
|
||
doi: 10.1016/j.euroneuro.2017.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28576350" target="_blank">28576350</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14981733">Familial dysautonomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Axelrod FB</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2004 Mar;29(3):352-63.
|
||
doi: 10.1002/mus.10499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14981733" target="_blank">14981733</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11122995">Personality in frontal lobe disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chow TW</span><br />
|
||
<span class="medgenPMjournal">Curr Psychiatry Rep</span>
|
||
2000 Oct;2(5):446-51.
|
||
doi: 10.1007/s11920-000-0031-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11122995" target="_blank">11122995</a><a href="/pmc/articles/PMC5786154" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3063394">Postviral fatigue syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Behan PO,
|
||
Behan WM</span><br />
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||
<span class="medgenPMjournal">Crit Rev Neurobiol</span>
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||
1988;4(2):157-78.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3063394" target="_blank">3063394</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emotional%20lability%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (184)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
|
||
Ellis C,
|
||
Brassington R,
|
||
Sathasivam S,
|
||
Young CA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 May 20;5(5):CD006981.
|
||
doi: 10.1002/14651858.CD006981.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28576350">Cannabinoids in attention-deficit/hyperactivity disorder: A randomised-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooper RE,
|
||
Williams E,
|
||
Seegobin S,
|
||
Tye C,
|
||
Kuntsi J,
|
||
Asherson P</span><br />
|
||
<span class="medgenPMjournal">Eur Neuropsychopharmacol</span>
|
||
2017 Aug;27(8):795-808.
|
||
Epub 2017 May 30
|
||
doi: 10.1016/j.euroneuro.2017.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28576350" target="_blank">28576350</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26847689">The paradoxical psychological effects of lysergic acid diethylamide (LSD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carhart-Harris RL,
|
||
Kaelen M,
|
||
Bolstridge M,
|
||
Williams TM,
|
||
Williams LT,
|
||
Underwood R,
|
||
Feilding A,
|
||
Nutt DJ</span><br />
|
||
<span class="medgenPMjournal">Psychol Med</span>
|
||
2016 May;46(7):1379-90.
|
||
Epub 2016 Feb 5
|
||
doi: 10.1017/S0033291715002901.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26847689" target="_blank">26847689</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17150011">Dextromethorphan/quinidine: a novel dextromethorphan product for the treatment of emotional lability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith RA</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Pharmacother</span>
|
||
2006 Dec;7(18):2581-98.
|
||
doi: 10.1517/14656566.7.18.2581.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17150011" target="_blank">17150011</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11122995">Personality in frontal lobe disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chow TW</span><br />
|
||
<span class="medgenPMjournal">Curr Psychiatry Rep</span>
|
||
2000 Oct;2(5):446-51.
|
||
doi: 10.1007/s11920-000-0031-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11122995" target="_blank">11122995</a><a href="/pmc/articles/PMC5786154" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emotional%20lability%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (288)</a></div></div>
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|
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|
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<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/36078582">A Systematic Review of Multiple Family Factors Associated with Oppositional Defiant Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin X,
|
||
He T,
|
||
Heath M,
|
||
Chi P,
|
||
Hinshaw S</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Aug 31;19(17)
|
||
doi: 10.3390/ijerph191710866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36078582" target="_blank">36078582</a><a href="/pmc/articles/PMC9517877" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
|
||
Ellis C,
|
||
Brassington R,
|
||
Sathasivam S,
|
||
Young CA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 May 20;5(5):CD006981.
|
||
doi: 10.1002/14651858.CD006981.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28072907">Symptomatic treatments for amyotrophic lateral sclerosis/motor neuron disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng L,
|
||
Khan F,
|
||
Young CA,
|
||
Galea M</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2017 Jan 10;1(1):CD011776.
|
||
doi: 10.1002/14651858.CD011776.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28072907" target="_blank">28072907</a><a href="/pmc/articles/PMC6469543" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24456942">Genetics of borderline personality disorder: systematic review and proposal of an integrative model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amad A,
|
||
Ramoz N,
|
||
Thomas P,
|
||
Jardri R,
|
||
Gorwood P</span><br />
|
||
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
|
||
2014 Mar;40:6-19.
|
||
Epub 2014 Jan 20
|
||
doi: 10.1016/j.neubiorev.2014.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24456942" target="_blank">24456942</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12697136">A systematic review of the behavioral effects of levetiracetam in adults with epilepsy, cognitive disorders, or an anxiety disorder during clinical trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cramer JA,
|
||
De Rue K,
|
||
Devinsky O,
|
||
Edrich P,
|
||
Trimble MR</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2003 Apr;4(2):124-32.
|
||
doi: 10.1016/s1525-5050(03)00005-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12697136" target="_blank">12697136</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emotional%20lability%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0085633%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
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