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<meta name="keywords" content="C0011848, arginine vasopressin-related polyuria, avp (arginine vasopressin)-related polyuria, diabetes insipidus, disease or syndrome, vasopressin-related polyuria, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=8349
|
||
ConceptID=C0011848
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Diabetes insipidus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8349</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:">C0011848</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Diabetes Insipidus</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Vasopressin-related polyuria (1296758008); AVP (arginine vasopressin)-related polyuria (1296758008); Arginine vasopressin-related polyuria (1296758008); Diabetes insipidus (1296758008)</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:0000873">HP:0000873</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0004782" target="_blank">MONDO:0004782</a></td></tr>
|
||
</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">A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). [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 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>
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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=C0011848[DISCUI]&test_type=Clinical" ref="ncbi_uid=8349">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=8349" ref="ncbi_uid=8349">V</a></span></span><span class="TLline">Diabetes insipidus</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/893021" ref="tree=MeSH" title="MedGen record for Abnormality of the endocrine system">Abnormality of the endocrine system</a></span><ul><li><span class="matched_ds">Diabetes insipidus</span><ul><li><span class="TLline"><a href="/medgen/1373297" ref="tree=MeSH" title="MedGen record for Adipsic Diabetes Insipidus">Adipsic Diabetes Insipidus</a></span></li><li><span class="TLline"><a href="/medgen/146919" ref="tree=MeSH" title="MedGen record for Central diabetes insipidus">Central diabetes insipidus</a></span><ul><li><span class="TLline"><a href="/medgen/1843437" ref="tree=MeSH" title="MedGen record for Acquired central diabetes insipidus">Acquired central diabetes insipidus</a></span></li><li><span class="TLline"><a href="/medgen/1380925" ref="tree=MeSH" title="MedGen record for Autosomal Dominant Neurohypophyseal Diabetes Insipidus">Autosomal Dominant Neurohypophyseal Diabetes Insipidus</a></span></li><li><span class="TLline"><a href="/medgen/574999" ref="tree=MeSH" title="MedGen record for Neurohypophyseal diabetes insipidus">Neurohypophyseal diabetes insipidus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82829" ref="tree=MeSH" title="MedGen record for Dipsogenic diabetes insipidus">Dipsogenic diabetes insipidus</a></span></li><li><span class="TLline"><a href="/medgen/57876" ref="tree=MeSH" title="MedGen record for Nephrogenic diabetes insipidus">Nephrogenic diabetes insipidus</a></span><ul><li><span class="TLline"><a href="/medgen/289643" ref="tree=MeSH" title="MedGen record for Diabetes insipidus, nephrogenic, autosomal">Diabetes insipidus, nephrogenic, autosomal</a></span></li><li><span class="TLline"><a href="/medgen/288785" ref="tree=MeSH" title="MedGen record for Diabetes insipidus, nephrogenic, X-linked">Diabetes insipidus, nephrogenic, X-linked</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21923" ref="tree=MeSH" title="MedGen record for Wolfram syndrome">Wolfram syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1641635" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 1">Wolfram syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/347604" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 2">Wolfram syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/325511" ref="tree=MeSH" title="MedGen record for Wolfram syndrome, mitochondrial form">Wolfram syndrome, mitochondrial form</a></span></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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_78617"><div><strong>Cyclopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78617</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.">C0266667</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain and occurs after failed or abbreviated midline cleavage of the developing brain during the third and fourth weeks of gestation. HPE occurs in up to 1 in 250 gestations, but only 1 in 8,000 live births (Lacbawan et al., 2009). Classically, 3 degrees of severity defined by the extent of brain malformation have been described. In the most severe form, 'alobar HPE,' there is a single ventricle and no interhemispheric fissure. The olfactory bulbs and tracts and the corpus callosum are typically absent. In 'semilobar HPE,' the most common type of HPE in neonates who survive, there is partial cortical separation with rudimentary cerebral hemispheres and a single ventricle. In 'lobar HPE,' the ventricles are separated, but there is incomplete frontal cortical separation (Corsello et al., 1990). An additional milder form, called 'middle interhemispheric variant' (MIHV) has also been delineated, in which the posterior frontal and parietal lobes are incompletely separated and the corpus callosum may be hypoplastic (Lacbawan et al., 2009). Finally, microforms of HPE include a single maxillary median incisor or hypotelorism without the typical brain malformations (summary by Mercier et al., 2011). Cohen (2001) discussed problems in the definition of holoprosencephaly, which can be viewed from 2 different perspectives: anatomic (fixed) and genetic (broad). When the main interest is description, the anatomic perspective is appropriate. In genetic perspective, a fixed definition of holoprosencephaly is not appropriate because the same mutational cause may result in either holoprosencephaly or some microform of holoprosencephaly. Cohen (2001) concluded that both fixed and broad definitions are equally valid and depend on context. Munke (1989) provided an extensive review of the etiology and pathogenesis of holoprosencephaly, emphasizing heterogeneity. See also schizencephaly (269160), which may be part of the phenotypic spectrum of HPE. Genetic Heterogeneity of Holoprosencephaly Several loci for holoprosencephaly have been mapped to specific chromosomal sites and the molecular defects in some cases of HPE have been identified. Holoprosencephaly-1 (HPE1) maps to chromosome 21q22. See also HPE2 (157170), caused by mutation in the SIX3 gene (603714) on 2p21; HPE3 (142945), caused by mutation in the SHH gene (600725) on 7q36; HPE4 (142946), caused by mutation in the TGIF gene (602630) on 18p11; HPE5 (609637), caused by mutation in the ZIC2 gene (603073) on 13q32; HPE6 (605934), mapped to 2q37; HPE7 (610828), caused by mutation in the PTCH1 gene (601309) on 9q22; HPE8 (609408), mapped to 14q13; HPE9 (610829), caused by mutation in the GLI2 gene (165230) on 2q14; HPE10 (612530), mapped to 1q41-q42; HPE11 (614226), caused by mutation in the CDON gene (608707) on 11q24; HPE12 (618500), caused by mutation in the CNOT1 gene (604917) on 16q21; HPE13 (301043), caused by mutation in the STAG2 gene (300826) on Xq25; and HPE14 (619895), caused by mutation in the PLCH1 gene (612835) on 3q25. Wallis and Muenke (2000) gave an overview of mutations in holoprosencephaly. They indicated that at least 12 different loci had been associated with HPE. Mutations in genes involved in the multiprotein cohesin complex, including STAG2, have been shown to be involved in midline brain defects such as HPE. Mutations in some of those genes cause Cornelia de Lange syndrome (CDLS; see 122470), and some patients with severe forms of CDLS may have midline brain defects. See, for example, CDLS2 (300590), CDLS3 (610759), and CDLS4 (614701).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78617">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78675"><div><strong>Alstrom syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78675</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.">C0268425</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive bilateral sensorineural hearing impairment, acute infantile-onset cardiomyopathy and/or adolescent- or adult-onset restrictive cardiomyopathy, insulin resistance / type 2 diabetes mellitus (T2DM), nonalcoholic fatty liver disease (NAFLD), and chronic progressive kidney disease. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Sensorineural hearing loss presents in the first decade in as many as 70% of individuals and may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to T2DM in the majority by the third decade. Nearly all demonstrate hypertriglyceridemia. Other findings can include endocrine abnormalities (hypothyroidism, hypogonadotropic hypogonadism in males, and hyperandrogenism in females), urologic dysfunction / detrusor instability, progressive decrease in renal function, and hepatic disease (ranging from elevated transaminases to steatohepatitis/NAFLD). Approximately 20% of affected individuals have delay in early developmental milestones, most commonly in gross and fine motor skills. About 30% have a learning disability. Cognitive impairment (IQ <70) is very rare. Wide clinical variability is observed among affected individuals, even within the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78675">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_90926"><div><strong>Septo-optic dysplasia sequence</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90926</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.">C0338503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90926">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162912"><div><strong>Aicardi-Goutieres syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162912</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.">C0796126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162912">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_288785"><div><strong>Diabetes insipidus, nephrogenic, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>288785</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.">C1563705</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production) and polydipsia (excessive thirst). Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with illness, hot environment, or the withholding of water. Short stature and secondary dilatation of the ureters and bladder from the high urine volume is common in untreated individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/288785">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322517"><div><strong>Holoprosencephaly 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322517</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.">C1834877</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322517">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325511"><div><strong>Wolfram syndrome, mitochondrial form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325511</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.">C1838782</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/325511">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374488"><div><strong>Holoprosencephaly 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374488</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.">C1840528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374488">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_335111"><div><strong>Hartsfield-Bixler-Demyer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335111</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.">C1845146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FGFR1-related Hartsfield syndrome comprises two core features: holoprosencephaly (HPE) spectrum disorder and ectrodactyly spectrum disorder. HPE spectrum disorder, resulting from failed or incomplete forebrain division early in gestation, includes alobar, semilobar, or lobar HPE. Other observed midline brain malformations include corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs and tracts, and vermian hypoplasia. Other findings associated with the HPE spectrum such as craniofacial dysmorphism, neurologic issues (developmental delay, spasticity, seizures, hypothalamic dysfunction), feeding problems, and endocrine issues (hypogonadotropic hypogonadism and central insipidus diabetes) are common. Ectrodactyly spectrum disorders are unilateral or bilateral malformations of the hands and/or feet characterized by a median cleft of hand or foot due to absence of the longitudinal central rays (also called split-hand/foot malformation). The number of digits on the right and left can vary. Polydactyly and syndactyly can also be seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335111">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347604"><div><strong>Wolfram syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347604</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.">C1858028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wolfram syndrome-2 (WFS2) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding (summary by Mozzillo et al., 2014). For a discussion of genetic heterogeneity of Wolfram syndrome, see WFS1 (222300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347604">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370203"><div><strong>Polyhydramnios, megalencephaly, and symptomatic epilepsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370203</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.">C1970203</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic neurological disorder with characteristics of pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus and nephrocalcinosis among others.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370203">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862916"><div><strong>Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862916</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.">C4014479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862916">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863145"><div><strong>Webb-Dattani syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863145</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.">C4014708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities (summary by Webb et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863145">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641635"><div><strong>Wolfram syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641635</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.">C4551693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641635">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684550"><div><strong>Holoprosencephaly 12 with or without pancreatic agenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684550</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.">C5193131</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Holoprosencephaly-12 with or without pancreatic agenesis (HPE12) is a developmental disorder characterized by abnormal separation of the embryonic forebrain (HPE) resulting in dysmorphic facial features and often, but not always, impaired neurologic development. Most patients with this form of HPE also have congenital absence of the pancreas, resulting in early-onset type 1 diabetes mellitus and requiring pancreatic enzyme replacement. Other features may include hearing loss and absence of the gallbladder (summary by De Franco et al., 2019 and Kruszka et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684550">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794200"><div><strong>Biliary, renal, neurologic, and skeletal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794200</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.">C5561990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794200">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824048"><div><strong>Combined oxidative phosphorylation deficiency 57</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824048</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.">C5774275</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from premature death in infancy to permanent disability in young adulthood (Lee et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824048">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854654"><div><strong>Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854654</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.">C5935628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854654">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1857169"><div><strong>Neuromuscular disorder, congenital, with dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857169</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.">C5935643</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital neuromuscular disorder with dysmorphic facies (NMDF) is an autosomal recessive disorder characterized by impaired skeletal muscle development, usually resulting in hypotonia and secondary joint contractures, and dysmorphic facial features. Features are apparent from birth. Affected individuals may show motor delay, speech delay, and impaired intellectual development. The severity of the disorder is highly variable (Schnabel et al., 2023; Roos et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1857169">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78675" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alstrom syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794200" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biliary, renal, neurologic, and skeletal syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 57</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cyclopia</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', 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_288785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes insipidus, nephrogenic, X-linked</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hartsfield-Bixler-Demyer syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly 12 with or without pancreatic agenesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1857169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuromuscular disorder, congenital, with dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370203" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios, megalencephaly, and symptomatic epilepsy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Septo-optic dysplasia sequence</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Webb-Dattani syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolfram syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347604" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolfram syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolfram syndrome, mitochondrial form</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/35771962">Diagnosis and Management of Central Diabetes Insipidus in Adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomkins M,
|
||
Lawless S,
|
||
Martin-Grace J,
|
||
Sherlock M,
|
||
Thompson CJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Sep 28;107(10):2701-2715.
|
||
doi: 10.1210/clinem/dgac381.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35771962" target="_blank">35771962</a><a href="/pmc/articles/PMC9516129" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33713498">Diagnosis and management of diabetes insipidus for the internist: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christ-Crain M,
|
||
Winzeler B,
|
||
Refardt J</span><br />
|
||
<span class="medgenPMjournal">J Intern Med</span>
|
||
2021 Jul;290(1):73-87.
|
||
Epub 2021 Mar 13
|
||
doi: 10.1111/joim.13261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33713498" target="_blank">33713498</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27156758">Diagnosis and treatment of hypernatremia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muhsin SA,
|
||
Mount DB</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2016 Mar;30(2):189-203.
|
||
Epub 2016 Mar 4
|
||
doi: 10.1016/j.beem.2016.02.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27156758" target="_blank">27156758</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22diabetes%20insipidus%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 (369)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/ng19" target="_blank">UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019</a></h3>
|
||
</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/38316255">Diabetes insipidus: Vasopressin deficiency….</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chasseloup F,
|
||
Tabarin A,
|
||
Chanson P</span><br />
|
||
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2024 Jul;85(4):294-299.
|
||
Epub 2024 Feb 3
|
||
doi: 10.1016/j.ando.2023.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38316255" target="_blank">38316255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36355385">Changing the Name of Diabetes Insipidus: A Position Statement of the Working Group for Renaming Diabetes Insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arima H,
|
||
Cheetham T,
|
||
Christ-Crain M,
|
||
Cooper D,
|
||
Drummond J,
|
||
Gurnell M,
|
||
Levy M,
|
||
McCormack A,
|
||
Newell-Price J,
|
||
Verbalis JG,
|
||
Wass J;
|
||
Working Group for Renaming Diabetes Insipidus</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Dec 17;108(1):1-3.
|
||
doi: 10.1210/clinem/dgac547.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36355385" target="_blank">36355385</a><a href="/pmc/articles/PMC9759163" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32646670">Central diabetes insipidus in children: Diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patti G,
|
||
Ibba A,
|
||
Morana G,
|
||
Napoli F,
|
||
Fava D,
|
||
di Iorgi N,
|
||
Maghnie M</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2020 Sep;34(5):101440.
|
||
Epub 2020 Jun 29
|
||
doi: 10.1016/j.beem.2020.101440.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32646670" target="_blank">32646670</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25248592">Rathke's cleft cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larkin S,
|
||
Karavitaki N,
|
||
Ansorge O</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2014;124:255-69.
|
||
doi: 10.1016/B978-0-444-59602-4.00017-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25248592" target="_blank">25248592</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10612269">Drug-induced diabetes insipidus: incidence, prevention and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bendz H,
|
||
Aurell M</span><br />
|
||
<span class="medgenPMjournal">Drug Saf</span>
|
||
1999 Dec;21(6):449-56.
|
||
doi: 10.2165/00002018-199921060-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10612269" target="_blank">10612269</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20insipidus%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 (1761)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36683321">New developments and concepts in the diagnosis and management of diabetes insipidus (AVP-deficiency and resistance).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Angelousi A,
|
||
Alexandraki KI,
|
||
Mytareli C,
|
||
Grossman AB,
|
||
Kaltsas G</span><br />
|
||
<span class="medgenPMjournal">J Neuroendocrinol</span>
|
||
2023 Jan;35(1):e13233.
|
||
Epub 2023 Jan 22
|
||
doi: 10.1111/jne.13233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36683321" target="_blank">36683321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35771962">Diagnosis and Management of Central Diabetes Insipidus in Adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomkins M,
|
||
Lawless S,
|
||
Martin-Grace J,
|
||
Sherlock M,
|
||
Thompson CJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Sep 28;107(10):2701-2715.
|
||
doi: 10.1210/clinem/dgac381.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35771962" target="_blank">35771962</a><a href="/pmc/articles/PMC9516129" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33713498">Diagnosis and management of diabetes insipidus for the internist: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christ-Crain M,
|
||
Winzeler B,
|
||
Refardt J</span><br />
|
||
<span class="medgenPMjournal">J Intern Med</span>
|
||
2021 Jul;290(1):73-87.
|
||
Epub 2021 Mar 13
|
||
doi: 10.1111/joim.13261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33713498" target="_blank">33713498</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32741486">Diabetes Insipidus: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Refardt J,
|
||
Winzeler B,
|
||
Christ-Crain M</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2020 Sep;49(3):517-531.
|
||
Epub 2020 Jul 15
|
||
doi: 10.1016/j.ecl.2020.05.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32741486" target="_blank">32741486</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30454745">Nephrogenic Diabetes Insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavanagh C,
|
||
Uy NS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2019 Feb;66(1):227-234.
|
||
doi: 10.1016/j.pcl.2018.09.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30454745" target="_blank">30454745</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20insipidus%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 (2985)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36683321">New developments and concepts in the diagnosis and management of diabetes insipidus (AVP-deficiency and resistance).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Angelousi A,
|
||
Alexandraki KI,
|
||
Mytareli C,
|
||
Grossman AB,
|
||
Kaltsas G</span><br />
|
||
<span class="medgenPMjournal">J Neuroendocrinol</span>
|
||
2023 Jan;35(1):e13233.
|
||
Epub 2023 Jan 22
|
||
doi: 10.1111/jne.13233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36683321" target="_blank">36683321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35191944">Hypernatremia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamel KS,
|
||
Schreiber M,
|
||
Harel Z</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2022 Feb 22;327(8):774-775.
|
||
doi: 10.1001/jama.2022.1376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35191944" target="_blank">35191944</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32005690">Diabetes Insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiner A,
|
||
Vuguin P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2020 Feb;41(2):96-99.
|
||
doi: 10.1542/pir.2018-0337.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32005690" target="_blank">32005690</a><a href="/pmc/articles/PMC7426034" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30454745">Nephrogenic Diabetes Insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavanagh C,
|
||
Uy NS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2019 Feb;66(1):227-234.
|
||
doi: 10.1016/j.pcl.2018.09.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30454745" target="_blank">30454745</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27156767">Diabetes insipidus in infants and children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dabrowski E,
|
||
Kadakia R,
|
||
Zimmerman D</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2016 Mar;30(2):317-28.
|
||
Epub 2016 Feb 27
|
||
doi: 10.1016/j.beem.2016.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27156767" target="_blank">27156767</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20insipidus%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 (2110)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27838632">Paradoxical reactions in children with tuberculosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah I,
|
||
Bhaskar MV</span><br />
|
||
<span class="medgenPMjournal">Trop Doct</span>
|
||
2017 Apr;47(2):109-113.
|
||
Epub 2016 Nov 12
|
||
doi: 10.1177/0049475516676388.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27838632" target="_blank">27838632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11387787">Lithium revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McIntyre RS,
|
||
Mancini DA,
|
||
Parikh S,
|
||
Kennedy SH</span><br />
|
||
<span class="medgenPMjournal">Can J Psychiatry</span>
|
||
2001 May;46(4):322-7.
|
||
doi: 10.1177/070674370104600402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11387787" target="_blank">11387787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10612269">Drug-induced diabetes insipidus: incidence, prevention and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bendz H,
|
||
Aurell M</span><br />
|
||
<span class="medgenPMjournal">Drug Saf</span>
|
||
1999 Dec;21(6):449-56.
|
||
doi: 10.2165/00002018-199921060-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10612269" target="_blank">10612269</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9402099">Congenital nephrogenic diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bichet DG,
|
||
Oksche A,
|
||
Rosenthal W</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
1997 Dec;8(12):1951-8.
|
||
doi: 10.1681/ASN.V8121951.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9402099" target="_blank">9402099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14095868">CRANIOPHARYNGIOMA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MATSON DD</span><br />
|
||
<span class="medgenPMjournal">Clin Neurosurg</span>
|
||
1964;10:116-29.
|
||
doi: 10.1093/neurosurgery/10.cn_suppl_1.116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14095868" target="_blank">14095868</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20insipidus%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 (1328)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34522399">Management of Diabetes Insipidus following Surgery for Pituitary and Suprasellar Tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almalki MH,
|
||
Ahmad MM,
|
||
Brema I,
|
||
Almehthel M,
|
||
AlDahmani KM,
|
||
Mahzari M,
|
||
Beshyah SA</span><br />
|
||
<span class="medgenPMjournal">Sultan Qaboos Univ Med J</span>
|
||
2021 Aug;21(3):354-364.
|
||
Epub 2021 Aug 29
|
||
doi: 10.18295/squmj.4.2021.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34522399" target="_blank">34522399</a><a href="/pmc/articles/PMC8407907" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26913870">History of Diabetes Insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valenti G,
|
||
Tamma G</span><br />
|
||
<span class="medgenPMjournal">G Ital Nefrol</span>
|
||
2016 Feb;33 Suppl 66:33.S66.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26913870" target="_blank">26913870</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22433947">Diabetes insipidus--diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Iorgi N,
|
||
Napoli F,
|
||
Allegri AE,
|
||
Olivieri I,
|
||
Bertelli E,
|
||
Gallizia A,
|
||
Rossi A,
|
||
Maghnie M</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2012;77(2):69-84.
|
||
Epub 2012 Mar 16
|
||
doi: 10.1159/000336333.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22433947" target="_blank">22433947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17514192">Lithium-induced nephropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raedler TJ,
|
||
Wiedemann K</span><br />
|
||
<span class="medgenPMjournal">Psychopharmacol Bull</span>
|
||
2007;40(2):134-49.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17514192" target="_blank">17514192</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8575409">Diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robertson GL</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
1995 Sep;24(3):549-72.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8575409" target="_blank">8575409</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20insipidus%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 (1064)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38996052">Central diabetes insipidus (vasopressin deficiency) after surgery for pituitary tumours: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fountas A,
|
||
Coulden A,
|
||
Fernández-García S,
|
||
Tsermoulas G,
|
||
Allotey J,
|
||
Karavitaki N</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2024 Jul 2;191(1):S1-S13.
|
||
doi: 10.1093/ejendo/lvae084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38996052" target="_blank">38996052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36764396">Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Muijnck C,
|
||
Brink JBT,
|
||
Bergen AA,
|
||
Boon CJF,
|
||
van Genderen MM</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2023 Jul-Aug;68(4):641-654.
|
||
Epub 2023 Feb 9
|
||
doi: 10.1016/j.survophthal.2023.01.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36764396" target="_blank">36764396</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36639856">Characteristics and Outcomes in Pediatric Versus Adult Craniopharyngiomas: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pang JC,
|
||
Chung DD,
|
||
Wang J,
|
||
Abiri A,
|
||
Lien BV,
|
||
Himstead AS,
|
||
Ovakimyan A,
|
||
Kim MG,
|
||
Hsu FPK,
|
||
Kuan EC</span><br />
|
||
<span class="medgenPMjournal">Neurosurgery</span>
|
||
2023 Jun 1;92(6):1112-1129.
|
||
Epub 2023 Jan 13
|
||
doi: 10.1227/neu.0000000000002346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36639856" target="_blank">36639856</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34687912">Hypophysitis: A comprehensive overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Vries F,
|
||
van Furth WR,
|
||
Biermasz NR,
|
||
Pereira AM</span><br />
|
||
<span class="medgenPMjournal">Presse Med</span>
|
||
2021 Dec;50(4):104076.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1016/j.lpm.2021.104076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34687912" target="_blank">34687912</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28540625">Pituitary dysfunction in granulomatosis with polyangiitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Esposito D,
|
||
Trimpou P,
|
||
Giugliano D,
|
||
Dehlin M,
|
||
Ragnarsson O</span><br />
|
||
<span class="medgenPMjournal">Pituitary</span>
|
||
2017 Oct;20(5):594-601.
|
||
doi: 10.1007/s11102-017-0811-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28540625" target="_blank">28540625</a><a href="/pmc/articles/PMC5606941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20insipidus%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 (98)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
||
|
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|
||
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|
||
<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0011848%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0011848%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0011848%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Diabetes%20insipidus" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22diabetes%20insipidus%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Diabetes%20insipidus%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nice.org.uk/guidance/ng19">NICE, 2019</a><div>UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Diabetes%20insipidus" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/11934/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Diabetes%20insipidus" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Diabetes%20insipidus%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0011848[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0011848[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=8349" ref="log$=recordlinks">MeSH</a>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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