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<!--
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||
UID=488855
|
||
ConceptID=C0344307
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pain insensitivity</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488855</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.">C0344307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Insensitivity to pain</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Anesthesia to pain (38433004); Feels no pain (38433004); Absence of pain sensation (38433004); No sensitivity to pain (38433004); Analgesia (38433004); Absence of sensibility to pain (38433004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0007021">HP:0007021</a></td></tr>
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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>
|
||
<div class="portlet_content ln">Inability to perceive painful stimuli. [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 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>
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<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=C0344307[DISCUI]&test_type=Clinical" ref="ncbi_uid=488855">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=488855" ref="ncbi_uid=488855">V</a></span></span><span class="TLline">Pain insensitivity</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/1790456" ref="tree=MeSH" title="MedGen record for Somatic sensory dysfunction">Somatic sensory dysfunction</a></span><ul><li><span class="TLline"><a href="/medgen/1779297" ref="tree=MeSH" title="MedGen record for Abnormal exteroceptive sensation">Abnormal exteroceptive sensation</a></span><ul><li><span class="TLline"><a href="/medgen/869265" ref="tree=MeSH" title="MedGen record for Abnormality of pain sensation">Abnormality of pain sensation</a></span><ul><li><span class="TLline"><a href="/medgen/373348" ref="tree=MeSH" title="MedGen record for Impaired pain sensation">Impaired pain sensation</a></span><ul><li><span class="matched_ds">Pain insensitivity</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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<div class="portlet mgSection" id="ID_112">
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||
<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_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_6916"><div><strong>Congenital sensory neuropathy with selective loss of small myelinated fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6916</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.">C0020075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.\n\nThe signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6916">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162881"><div><strong>Smith-Magenis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162881</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.">C0795864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162881">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335139"><div><strong>Syndromic X-linked intellectual disability Claes-Jensen type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335139</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.">C1845243</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males. However, males are usually reported to have short stature, microcephaly, hyperreflexia, and aggressive behavior. In rare cases, female carriers exhibit mildly impaired intellectual development or learning difficulties (summary by Guerra et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335139">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337496"><div><strong>Syndromic X-linked intellectual disability Lubs type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337496</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.">C1846058</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MECP2 duplication syndrome is a severe neurodevelopmental disorder characterized by early-onset hypotonia, feeding difficulty, gastrointestinal manifestations including gastroesophageal reflux and constipation, delayed psychomotor development leading to severe intellectual disability, poor speech development, progressive spasticity, recurrent respiratory infections (in ~75% of affected individuals), and seizures (in ~50%). MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2 duplication and a range of findings from mild intellectual disability to a phenotype similar to that seen in males. In addition to the core features, autistic behaviors, nonspecific neuroradiologic findings on brain MRI, mottled skin, and urogenital anomalies have been observed in several affected boys.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/337496">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_344563"><div><strong>Channelopathy-associated congenital insensitivity to pain, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344563</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.">C1855739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344563">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_419169"><div><strong>Chromosome 2q37 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419169</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.">C2931817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Patients with chromosome 2q37 deletion syndrome show highly variable clinical manifestations likely resulting from different deletion sizes and deletions of different genes. Variable clinical features included brachydactyly type E (BDE), affecting the metacarpals and metatarsals (in about 50% of patients), short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features. However, many individuals with deletions do not show cognitive deficits (summary by Villavicencio-Lorini et al., 2013, Wheeler et al., 2014, Jean-Marcais et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419169">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482290"><div><strong>Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482290</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.">C3280660</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Encephalopathy due to defective mitochondrial and peroxisomal fission-1 (EMPF1) is characterized by delayed psychomotor development and hypotonia that may lead to death in childhood. Many patients develop refractory seizures, consistent with an epileptic encephalopathy, and thereafter show neurologic decline. The age at onset, features, and severity are variable, and some patients may not have clinical evidence of mitochondrial or peroxisomal dysfunction (summary by Sheffer et al., 2016; Fahrner et al., 2016). Genetic Heterogeneity of Encephalopathy Due to Defective Mitochondrial And Peroxisomal Fission See also EMPF2 (617086), caused by mutation in the MFF gene (614785) on chromosome 2q36.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482290">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_814630"><div><strong>Chromosome 17p13.3 duplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>814630</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.">C3808300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/814630">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816212"><div><strong>Hereditary sensory and autonomic neuropathy type 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816212</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.">C3809882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type VII (HSAN7) is characterized by congenital absence of pain sensation resulting in recurrent injuries and self-inflicted wounds. Severe pruritis, intestinal dysmotility, and hyperhydrosis may be present (Woods et al., 2015; Salvatierra et al., 2018). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816212">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_863379"><div><strong>Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863379</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.">C4014942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">CAGSSS, which comprises cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, is an autosomal recessive multisystemic disorder with a highly variable phenotypic spectrum. Not all of these features are always present, and almost all the features may present at different times and/or become more apparent with age. The skeletal features are consistent with spondyloepimetaphyseal dysplasia (SEMD) (summary by Vona et al., 2018). One family had a distinctive presentation with infantile-onset intractable seizures and cortical abnormalities reminiscent of Leigh syndrome (see 256000). The correlation between genotype and phenotype remains unclear, but since the IARS2 gene is involved in mitochondrial function, heterogeneous manifestations can be expected (Takezawa et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863379">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_894363"><div><strong>Congenital insensitivity to pain-hypohidrosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894363</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.">C4225308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type VIII (HSAN8) is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production (summary by Chen et al., 2015). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1A (162400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/894363">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934585"><div><strong>Hypotonia, ataxia, and delayed development syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934585</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.">C4310618</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EBF3 neurodevelopmental disorder (EBF3-NDD) is associated with developmental delay (DD) / intellectual disability (ID), speech delay, gait or truncal ataxia, hypotonia, behavioral problems, and facial dysmorphism. Variability between individuals with EBF3-NDD is significant. Although all affected children have DD noted in early infancy, intellect generally ranges from mild to severe ID, with two individuals functioning in the low normal range. Less common issues can include genitourinary abnormalities and gastrointestinal and/or musculoskeletal involvement. To date, 42 symptomatic individuals from 39 families have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934585">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934707"><div><strong>Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934707</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.">C4310740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TRIO-related neurodevelopmental disorder (TRIO-NDD) is characterized by two phenotypes: TRIO-NDD due to gain-of-function variants and TRIO-NDD due to loss-of-function variants. TRIO-NDD due to gain-of-function variants within the spectrin repeat domain is characterized by moderate-to-severe developmental delay, intellectual disability, macrocephaly (or relative macrocephaly), neurobehavioral manifestations (poor attention, stereotypies, obsessive-compulsive behavior, aggressive behavior, and autism spectrum disorder), and early feeding difficulties with poor weight gain and growth deficiency. Seizures, constipation, scoliosis, dental abnormalities, and cardiac anomalies are also reported. TRIO-NDD due to loss-of-function variants is characterized by mild-to-moderate developmental delay and intellectual disability, microcephaly, neurobehavioral manifestations (poor attention, aggressive behavior, autism spectrum disorder, obsessive-compulsive traits, and stereotypies), early feeding difficulties with poor weight gain, dental abnormalities, and digit anomalies, including 2-3 toe syndactyly in some individuals. Seizures, constipation, scoliosis, and cardiac anomalies are also reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934707">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1613569"><div><strong>Indifference to pain, congenital, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1613569</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.">C4538468</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Marsili syndrome (MARSIS) is an autosomal dominant pain insensitivity disorder characterized by a lowered ability to sense pain, to experience temperature, and to sweat. Affected individuals do not perceive broken bones and burns as painful, and have lowered sensitivity to capsaicin. However, visceral pain (e.g., childbirth-related) and light touch are perceived (summary by Habib et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1613569">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1716581"><div><strong>Intellectual developmental disorder, autosomal dominant 63, with macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1716581</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.">C5394205</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TRIO-related neurodevelopmental disorder (TRIO-NDD) is characterized by two phenotypes: TRIO-NDD due to gain-of-function variants and TRIO-NDD due to loss-of-function variants. TRIO-NDD due to gain-of-function variants within the spectrin repeat domain is characterized by moderate-to-severe developmental delay, intellectual disability, macrocephaly (or relative macrocephaly), neurobehavioral manifestations (poor attention, stereotypies, obsessive-compulsive behavior, aggressive behavior, and autism spectrum disorder), and early feeding difficulties with poor weight gain and growth deficiency. Seizures, constipation, scoliosis, dental abnormalities, and cardiac anomalies are also reported. TRIO-NDD due to loss-of-function variants is characterized by mild-to-moderate developmental delay and intellectual disability, microcephaly, neurobehavioral manifestations (poor attention, aggressive behavior, autism spectrum disorder, obsessive-compulsive traits, and stereotypies), early feeding difficulties with poor weight gain, dental abnormalities, and digit anomalies, including 2-3 toe syndactyly in some individuals. Seizures, constipation, scoliosis, and cardiac anomalies are also reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1716581">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794210"><div><strong>Joubert syndrome 39</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794210</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.">C5562000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joubert syndrome-39 (JBTS39) is an autosomal recessive neurodevelopmental disorder with variable manifestations. Most affected individuals have developmental delay with poor speech and retinal dystrophy with abnormal eye movements. Brain imaging shows the pathognomonic 'molar tooth sign,' which reflects abnormal cerebellar formation (Van De Weghe et al., 2021). For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794210">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824038"><div><strong>Developmental and epileptic encephalopathy 110</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824038</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.">C5774265</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-110 (DEE110) is an autosomal recessive disorder characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. Affected individuals achieve almost no developmental milestones and show impaired intellectual development, poor or absent speech, inability to walk or grasp objects, peripheral spasticity, and poor eye contact. Brain imaging shows hypoplastic corpus callosum and cortical atrophy (Dahimene et al., 2022). For a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824038">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840880"><div><strong>Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840880</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.">C5830244</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TRPM3-related neurodevelopmental disorder (TRPM3-NDD) is characterized by congenital hypotonia, developmental delay affecting motor and speech/language skills, mild-to-severe intellectual disability, seizures, ophthalmologic manifestations including strabismus, nystagmus, and refractive errors, and musculoskeletal manifestations (e.g., talipes equinovarus, hip dysplasia, scoliosis). Reported seizure types include febrile, absence, generalized tonic-clonic, infantile spasms, and atonic drops. Cerebellar atrophy may be seen on brain MRI.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840880">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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841073">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1861320"><div><strong>Muscular dystrophy, limb-girdle, autosomal recessive 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861320</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.">C5935611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-29 (LGMDR29) is a neuromuscular disorder characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs. The disorder, which causes walking difficulties, is progressive and may result in loss of ambulation. Additional features include joint contractures, spinal abnormalities, and significant restrictive ventilatory dysfunction. Muscle biopsy shows dystrophic and myofibrillar changes, and serum creatine kinase is increased. Rare individuals have been reported to have central nervous system involvement, including cataracts, developmental delay, and brain imaging abnormalities (Nashabat et al., 2024 and Iruzubieta et al., 2024). For a discussion of genetic heterogeneity of autosomal recessive limb- girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861320">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_989503"><div><strong>Congenital disorder of deglycosylation 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989503</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN306977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989503">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Channelopathy-associated congenital insensitivity to pain, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_814630" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 17p13.3 duplication syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 2q37 deletion syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_989503" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of deglycosylation 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (24)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_894363" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital insensitivity to pain-hypohidrosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital sensory neuropathy with selective loss of small myelinated fibers</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824038" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 110</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1</a></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary sensory and autonomic neuropathy type 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia, ataxia, and delayed development syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1613569" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Indifference to pain, congenital, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1716581" 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 63, with macrocephaly</a></div>
|
||
<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>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 39</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934707" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, limb-girdle, autosomal recessive 29</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Magenis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability Claes-Jensen type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337496" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability Lubs type</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/19754700">Traumatic lesions from congenital insensitivity to pain with anhidrosis in a pediatric patient: dental management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neves BG,
|
||
Roza RT,
|
||
Castro GF</span><br />
|
||
<span class="medgenPMjournal">Dent Traumatol</span>
|
||
2009 Oct;25(5):545-9.
|
||
doi: 10.1111/j.1600-9657.2009.00810.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19754700" target="_blank">19754700</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16541087">Food intake and reward mechanisms in patients with schizophrenia: implications for metabolic disturbances and treatment with second-generation antipsychotic agents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elman I,
|
||
Borsook D,
|
||
Lukas SE</span><br />
|
||
<span class="medgenPMjournal">Neuropsychopharmacology</span>
|
||
2006 Oct;31(10):2091-120.
|
||
Epub 2006 Mar 15
|
||
doi: 10.1038/sj.npp.1301051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16541087" target="_blank">16541087</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pain%20insensitivity%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 (2)</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/35710757">Genetic pain loss disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lischka A,
|
||
Lassuthova P,
|
||
Çakar A,
|
||
Record CJ,
|
||
Van Lent J,
|
||
Baets J,
|
||
Dohrn MF,
|
||
Senderek J,
|
||
Lampert A,
|
||
Bennett DL,
|
||
Wood JN,
|
||
Timmerman V,
|
||
Hornemann T,
|
||
Auer-Grumbach M,
|
||
Parman Y,
|
||
Hübner CA,
|
||
Elbracht M,
|
||
Eggermann K,
|
||
Geoffrey Woods C,
|
||
Cox JJ,
|
||
Reilly MM,
|
||
Kurth I</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2022 Jun 16;8(1):41.
|
||
doi: 10.1038/s41572-022-00365-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35710757" target="_blank">35710757</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30716471">Congenital Insensitivity to Pain: A Misnomer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weisman A,
|
||
Quintner J,
|
||
Masharawi Y</span><br />
|
||
<span class="medgenPMjournal">J Pain</span>
|
||
2019 Sep;20(9):1011-1014.
|
||
Epub 2019 Feb 2
|
||
doi: 10.1016/j.jpain.2019.01.331.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30716471" target="_blank">30716471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25439301">Congenital corneal anesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramappa M,
|
||
Chaurasia S,
|
||
Chakrabarti S,
|
||
Kaur I</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2014 Oct;18(5):427-32.
|
||
Epub 2014 Oct 21
|
||
doi: 10.1016/j.jaapos.2014.05.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25439301" target="_blank">25439301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8909740">Oral and maxillofacial manifestations of hereditary sensory neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Narayanan V</span><br />
|
||
<span class="medgenPMjournal">Br J Oral Maxillofac Surg</span>
|
||
1996 Oct;34(5):446-9.
|
||
doi: 10.1016/s0266-4356(96)90105-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8909740" target="_blank">8909740</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4123668">Congenital insensitivity to pain. A clinical, genetic and neurophysiological study of four children from the same family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thrush DC</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
1973 Jun;96(2):369-86.
|
||
doi: 10.1093/brain/96.2.369.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4123668" target="_blank">4123668</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pain%20insensitivity%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 (86)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35710757">Genetic pain loss disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lischka A,
|
||
Lassuthova P,
|
||
Çakar A,
|
||
Record CJ,
|
||
Van Lent J,
|
||
Baets J,
|
||
Dohrn MF,
|
||
Senderek J,
|
||
Lampert A,
|
||
Bennett DL,
|
||
Wood JN,
|
||
Timmerman V,
|
||
Hornemann T,
|
||
Auer-Grumbach M,
|
||
Parman Y,
|
||
Hübner CA,
|
||
Elbracht M,
|
||
Eggermann K,
|
||
Geoffrey Woods C,
|
||
Cox JJ,
|
||
Reilly MM,
|
||
Kurth I</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2022 Jun 16;8(1):41.
|
||
doi: 10.1038/s41572-022-00365-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35710757" target="_blank">35710757</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30716471">Congenital Insensitivity to Pain: A Misnomer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weisman A,
|
||
Quintner J,
|
||
Masharawi Y</span><br />
|
||
<span class="medgenPMjournal">J Pain</span>
|
||
2019 Sep;20(9):1011-1014.
|
||
Epub 2019 Feb 2
|
||
doi: 10.1016/j.jpain.2019.01.331.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30716471" target="_blank">30716471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25421205">Congenital insensitivity to pain and anhidrosis syndrome: two cases involving a brother and sister.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Jiang X,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2014;127(22):3999-4000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25421205" target="_blank">25421205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6182578">Child abuse.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dorst JP</span><br />
|
||
<span class="medgenPMjournal">Radiologe</span>
|
||
1982 Aug;22(8):335-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6182578" target="_blank">6182578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4136553">Autosomal dominant insensitivity to pain with hyperplastic myelinopathy and autosomal dominant indifference to pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Comings DE,
|
||
Amromin GD</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1974 Sep;24(9):838-48.
|
||
doi: 10.1212/wnl.24.9.838.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4136553" target="_blank">4136553</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pain%20insensitivity%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 (186)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33201057">Pediatric Use of Recombinant Human Nerve Growth Factor 20 μg/mL Eye Drops (Cenegermin) for Bilateral Neurotrophic Keratopathy in Congenital Corneal Anesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leto MG,
|
||
Toro ME,
|
||
Indemini PE,
|
||
Fruttero C,
|
||
Denina M,
|
||
Dalmazzo C,
|
||
Sannia A,
|
||
Vaiano AS</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2021 Feb 1;40(2):228-231.
|
||
doi: 10.1097/ICO.0000000000002612.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33201057" target="_blank">33201057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20101409">Sodium channelopathies and pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lampert A,
|
||
O'Reilly AO,
|
||
Reeh P,
|
||
Leffler A</span><br />
|
||
<span class="medgenPMjournal">Pflugers Arch</span>
|
||
2010 Jul;460(2):249-63.
|
||
Epub 2010 Jan 26
|
||
doi: 10.1007/s00424-009-0779-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20101409" target="_blank">20101409</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15944986">Anesthetic management of a child with congenital insensitivity to pain with anhydrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ku AS,
|
||
Rodrigo CR,
|
||
To PC</span><br />
|
||
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
|
||
2005 Jun;63(6):848-51.
|
||
doi: 10.1016/j.joms.2005.02.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15944986" target="_blank">15944986</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12667101">When the DREAM is gone: from basic science to future prospectives in pain management and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng HY,
|
||
Penninger JM</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Ther Targets</span>
|
||
2003 Apr;7(2):249-63.
|
||
doi: 10.1517/14728222.7.2.249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12667101" target="_blank">12667101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11012960">Anaesthetic management of children with congenital insensitivity to pain with anhidrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okuda K,
|
||
Arai T,
|
||
Miwa T,
|
||
Hiroki K</span><br />
|
||
<span class="medgenPMjournal">Paediatr Anaesth</span>
|
||
2000;10(5):545-8.
|
||
doi: 10.1046/j.1460-9592.2000.00542.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11012960" target="_blank">11012960</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pain%20insensitivity%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 (40)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37769650">Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lischka A,
|
||
Eggermann K,
|
||
Record CJ,
|
||
Dohrn MF,
|
||
Laššuthová P,
|
||
Kraft F,
|
||
Begemann M,
|
||
Dey D,
|
||
Eggermann T,
|
||
Beijer D,
|
||
Šoukalová J,
|
||
Laura M,
|
||
Rossor AM,
|
||
Mazanec R,
|
||
Van Lent J,
|
||
Tomaselli PJ,
|
||
Ungelenk M,
|
||
Debus KY,
|
||
Feely SME,
|
||
Gläser D,
|
||
Jagadeesh S,
|
||
Martin M,
|
||
Govindaraj GM,
|
||
Singhi P,
|
||
Baineni R,
|
||
Biswal N,
|
||
Ibarra-Ramírez M,
|
||
Bonduelle M,
|
||
Gess B,
|
||
Romero Sánchez J,
|
||
Suthar R,
|
||
Udani V,
|
||
Nalini A,
|
||
Unnikrishnan G,
|
||
Marques W Junior,
|
||
Mercier S,
|
||
Procaccio V,
|
||
Bris C,
|
||
Suresh B,
|
||
Reddy V,
|
||
Skorupinska M,
|
||
Bonello-Palot N,
|
||
Mochel F,
|
||
Dahl G,
|
||
Sasidharan K,
|
||
Devassikutty FM,
|
||
Nampoothiri S,
|
||
Rodovalho Doriqui MJ,
|
||
Müller-Felber W,
|
||
Vill K,
|
||
Haack TB,
|
||
Dufke A,
|
||
Abele M,
|
||
Stucka R,
|
||
Siddiqi S,
|
||
Ullah N,
|
||
Spranger S,
|
||
Chiabrando D,
|
||
Bolgül BS,
|
||
Parman Y,
|
||
Seeman P,
|
||
Lampert A,
|
||
Schulz JB,
|
||
Wood JN,
|
||
Cox JJ,
|
||
Auer-Grumbach M,
|
||
Timmerman V,
|
||
de Winter J,
|
||
Themistocleous AC,
|
||
Shy M,
|
||
Bennett DL,
|
||
Baets J,
|
||
Hübner CA,
|
||
Leipold E,
|
||
Züchner S,
|
||
Elbracht M,
|
||
Çakar A,
|
||
Senderek J,
|
||
Hornemann T,
|
||
Woods CG,
|
||
Reilly MM,
|
||
Kurth I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Dec 1;146(12):4880-4890.
|
||
doi: 10.1093/brain/awad328.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37769650" target="_blank">37769650</a><a href="/pmc/articles/PMC10689924" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33753408">Ocular manifestations of congenital insensitivity to pain: a long-term follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elsana B,
|
||
Gradstein L,
|
||
Imtirat A,
|
||
Yagev R,
|
||
Barrett C,
|
||
Ling G,
|
||
Abu Tailakh M,
|
||
Baidousi A,
|
||
Tsumi E</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2022 Sep;106(9):1217-1221.
|
||
Epub 2021 Mar 22
|
||
doi: 10.1136/bjophthalmol-2020-317464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33753408" target="_blank">33753408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33201057">Pediatric Use of Recombinant Human Nerve Growth Factor 20 μg/mL Eye Drops (Cenegermin) for Bilateral Neurotrophic Keratopathy in Congenital Corneal Anesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leto MG,
|
||
Toro ME,
|
||
Indemini PE,
|
||
Fruttero C,
|
||
Denina M,
|
||
Dalmazzo C,
|
||
Sannia A,
|
||
Vaiano AS</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2021 Feb 1;40(2):228-231.
|
||
doi: 10.1097/ICO.0000000000002612.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33201057" target="_blank">33201057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25426241">Congenital indifference to pain: an illustrated case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Golshani AE,
|
||
Kamdar AA,
|
||
Spence SC,
|
||
Beckmann NM</span><br />
|
||
<span class="medgenPMjournal">J Radiol Case Rep</span>
|
||
2014 Aug;8(8):16-23.
|
||
Epub 2014 Aug 31
|
||
doi: 10.3941/jrcr.v8i8.2194.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25426241" target="_blank">25426241</a><a href="/pmc/articles/PMC4242143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/68952">Training autistic children to urinate in the toilet through operant conditioning techniques.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ando H</span><br />
|
||
<span class="medgenPMjournal">J Autism Child Schizophr</span>
|
||
1977 Jun;7(2):151-63.
|
||
doi: 10.1007/BF01537726.
|
||
<span class="bold">PMID: </span><a href="/pubmed/68952" target="_blank">68952</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pain%20insensitivity%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 (51)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37769650">Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lischka A,
|
||
Eggermann K,
|
||
Record CJ,
|
||
Dohrn MF,
|
||
Laššuthová P,
|
||
Kraft F,
|
||
Begemann M,
|
||
Dey D,
|
||
Eggermann T,
|
||
Beijer D,
|
||
Šoukalová J,
|
||
Laura M,
|
||
Rossor AM,
|
||
Mazanec R,
|
||
Van Lent J,
|
||
Tomaselli PJ,
|
||
Ungelenk M,
|
||
Debus KY,
|
||
Feely SME,
|
||
Gläser D,
|
||
Jagadeesh S,
|
||
Martin M,
|
||
Govindaraj GM,
|
||
Singhi P,
|
||
Baineni R,
|
||
Biswal N,
|
||
Ibarra-Ramírez M,
|
||
Bonduelle M,
|
||
Gess B,
|
||
Romero Sánchez J,
|
||
Suthar R,
|
||
Udani V,
|
||
Nalini A,
|
||
Unnikrishnan G,
|
||
Marques W Junior,
|
||
Mercier S,
|
||
Procaccio V,
|
||
Bris C,
|
||
Suresh B,
|
||
Reddy V,
|
||
Skorupinska M,
|
||
Bonello-Palot N,
|
||
Mochel F,
|
||
Dahl G,
|
||
Sasidharan K,
|
||
Devassikutty FM,
|
||
Nampoothiri S,
|
||
Rodovalho Doriqui MJ,
|
||
Müller-Felber W,
|
||
Vill K,
|
||
Haack TB,
|
||
Dufke A,
|
||
Abele M,
|
||
Stucka R,
|
||
Siddiqi S,
|
||
Ullah N,
|
||
Spranger S,
|
||
Chiabrando D,
|
||
Bolgül BS,
|
||
Parman Y,
|
||
Seeman P,
|
||
Lampert A,
|
||
Schulz JB,
|
||
Wood JN,
|
||
Cox JJ,
|
||
Auer-Grumbach M,
|
||
Timmerman V,
|
||
de Winter J,
|
||
Themistocleous AC,
|
||
Shy M,
|
||
Bennett DL,
|
||
Baets J,
|
||
Hübner CA,
|
||
Leipold E,
|
||
Züchner S,
|
||
Elbracht M,
|
||
Çakar A,
|
||
Senderek J,
|
||
Hornemann T,
|
||
Woods CG,
|
||
Reilly MM,
|
||
Kurth I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Dec 1;146(12):4880-4890.
|
||
doi: 10.1093/brain/awad328.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37769650" target="_blank">37769650</a><a href="/pmc/articles/PMC10689924" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32141314">Population Study of Hand and Wrist Manifestations of Congenital Insensitivity to Pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spiteri M,
|
||
Mifsud M,
|
||
Azzopardi T,
|
||
Giele H</span><br />
|
||
<span class="medgenPMjournal">Hand (N Y)</span>
|
||
2022 Jan;17(1):155-161.
|
||
Epub 2020 Mar 6
|
||
doi: 10.1177/1558944720906556.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32141314" target="_blank">32141314</a><a href="/pmc/articles/PMC8721796" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34000361">Understanding pain perception through genetic painlessness diseases: The role of NGF and proNGF.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Testa G,
|
||
Cattaneo A,
|
||
Capsoni S</span><br />
|
||
<span class="medgenPMjournal">Pharmacol Res</span>
|
||
2021 Jul;169:105662.
|
||
Epub 2021 May 15
|
||
doi: 10.1016/j.phrs.2021.105662.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34000361" target="_blank">34000361</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33201057">Pediatric Use of Recombinant Human Nerve Growth Factor 20 μg/mL Eye Drops (Cenegermin) for Bilateral Neurotrophic Keratopathy in Congenital Corneal Anesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leto MG,
|
||
Toro ME,
|
||
Indemini PE,
|
||
Fruttero C,
|
||
Denina M,
|
||
Dalmazzo C,
|
||
Sannia A,
|
||
Vaiano AS</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2021 Feb 1;40(2):228-231.
|
||
doi: 10.1097/ICO.0000000000002612.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33201057" target="_blank">33201057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23843740">Pain sensitivity and observer perception of pain in individuals with autistic spectrum disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allely CS</span><br />
|
||
<span class="medgenPMjournal">ScientificWorldJournal</span>
|
||
2013;2013:916178.
|
||
Epub 2013 Jun 13
|
||
doi: 10.1155/2013/916178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23843740" target="_blank">23843740</a><a href="/pmc/articles/PMC3697411" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pain%20insensitivity%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 (71)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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||
<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0344307%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0344307%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0344307%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Pain%20insensitivity" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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