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<meta name="keywords" content="C1563705, avpr2, diabetes insipidus nephrogenic type 1, diabetes insipidus, nephrogenic, 1, x-linked, diabetes insipidus, nephrogenic, 1, x-linked recessive, diabetes insipidus, nephrogenic, type 1, diabetes insipidus, nephrogenic, type i, diabetes insipidus, nephrogenic, x-linked, disease or syndrome, ndi, ndi1, nephrogenic diabetes insipidus, type i, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=288785
|
||
ConceptID=C1563705
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Diabetes insipidus, nephrogenic, X-linked<span class="h1sub">(NDI1)</span></div></h1><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><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Diabetes insipidus nephrogenic type 1; Nephrogenic Diabetes Insipidus, Type I</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="AVPR2 - ID: 554 - NCBI Gene" href="/gene/554" class="medgenPMinfo">AVPR2</a> (Xq28)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010581" target="_blank">MONDO:0010581</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/304800" target="_blank">304800</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_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1177" target="_blank">Hereditary Nephrogenic Diabetes Insipidus</a></div><div>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. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1177#ndi.Summary" target="NBK1177">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1177#ndi.Diagnosis" target="NBK1177">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1177#ndi.Clinical_Characteristics" target="NBK1177">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1177#ndi.Genetically_Related_Allelic_Disorder" target="NBK1177">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1177#ndi.Differential_Diagnosis" target="NBK1177">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1177#ndi.Management" target="NBK1177">Management</a> | <a class="medgenPMinfo" href="/books/NBK1177#ndi.Genetic_Counseling" target="NBK1177">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1177#ndi.Resources" target="NBK1177">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1177#ndi.Molecular_Genetics" target="NBK1177">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1177#ndi.Chapter_Notes" target="NBK1177">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1177#ndi.References" target="NBK1177">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Nine Knoers | Henny Lemmink <a href="/books/NBK1177" target="NBK1177" title="NCBI Bookshelf: Hereditary Nephrogenic Diabetes Insipidus">view full author information</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Nephrogenic diabetes insipidus (NDI) is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; 192340). Approximately 90% of patients are males with the X-linked recessive form (type I; NDI1), which is caused by a defect in the vasopressin V2 receptor in renal collecting duct cells. The remaining 10% of patients have autosomal NDI (type II; NDI2, 125800), which is caused by mutations in the gene encoding the aquaporin-2 water channel (AQP2; 107777) on chromosome 12q13 (Morello and Bichet, 2001).
|
||
Neurogenic, or central, diabetes insipidus (125700) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13. <a target="_blank" href="http://www.omim.org/entry/304800">http://www.omim.org/entry/304800</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Infants with familial arginine vasopressin resistance tend to have problems feeding and gaining weight (failure to thrive). They may also be irritable and experience fevers, diarrhea, and vomiting. Recurrent episodes of dehydration can lead to slow growth and delayed development. If the condition is not well-managed, it can damage the bladder and kidneys leading to pain, infections, and kidney failure. With appropriate treatment, affected individuals usually have few complications and a normal lifespan.<br /><br />Arginine vasopressin resistance can be either acquired or familial. The acquired form can occur at any time during life. The familial form usually become apparent within the first year of life, though in some cases they develop in adolescence or early adulthood.<br /><br />Affected individuals can quickly become dehydrated if they do not drink enough water. Dehydration can cause dizziness and fatigue. Prolonged dehydration can lead to confusion, low blood pressure, seizures, and coma. People with arginine vasopressin resistance often develop high levels of sodium in the blood (hypernatremia) due to dehydration. Repeated cycles of dehydration can cause long-term health problems, particularly in children. <br /><br />Researchers have recommended using the condition name arginine vasopressin resistance because the previous name, nephrogenic diabetes insipidus, was often confused with a much more common disorder called diabetes mellitus. Arginine vasopressin resistance and diabetes mellitus are separate disorders with different features, causes, and treatment.<br /><br />Arginine vasopressin resistance (previously called nephrogenic diabetes insipidus) is a disorder of water balance. The body normally balances fluid intake by releasing excess fluid in urine. However, people with arginine vasopressin resistance produce an excessive amount of urine (polyuria), which depletes the amount of water in the body. This water loss also leads to excessive thirst (polydipsia). <a target="_blank" href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-resistance">https://medlineplus.gov/genetics/condition/arginine-vasopressin-resistance</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_19404"><div><strong>Polyuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19404</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.">C0032617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased rate of urine production.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19404">Feature record</a> | <a href="/medgen?term=%22Polyuria%22%5BClinical%20Features%5D%20OR%2019404%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343318"><div><strong>Megacystis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343318</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.">C1855311</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dilatation of the bladder postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343318">Feature record</a> | <a href="/medgen?term=%22Megacystis%22%5BClinical%20Features%5D%20OR%20343318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1101"><div><strong>Constipation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1101</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.">C0009806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infrequent or difficult evacuation of feces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1101">Feature record</a> | <a href="/medgen?term=%22Constipation%22%5BClinical%20Features%5D%20OR%201101%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</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.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_436211"><div><strong>Feeding difficulties in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436211</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.">C2674608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436211">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%20in%20infancy%22%5BClinical%20Features%5D%20OR%20436211%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43214"><div><strong>Polydipsia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43214</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.">C0085602</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive thirst manifested by excessive fluid intake.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43214">Feature record</a> | <a href="/medgen?term=%22Polydipsia%22%5BClinical%20Features%5D%20OR%2043214%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_397841"><div><strong>Irritability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>397841</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.">C2700617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A proneness to anger, i.e., a tendency to become easily bothered or annoyed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Irritability%22%5BClinical%20Features%5D%20OR%20397841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6966"><div><strong>Hypernatremia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6966</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.">C0020488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased sodium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6966">Feature record</a> | <a href="/medgen?term=%22Hypernatremia%22%5BClinical%20Features%5D%20OR%206966%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_205119"><div><strong>Hypertonic dehydration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>205119</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.">C1112601</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/205119">Feature record</a> | <a href="/medgen?term=%22Hypertonic%20dehydration%22%5BClinical%20Features%5D%20OR%20205119%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337055"><div><strong>Unexplained fevers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337055</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.">C1844662</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Episodes of fever for which no infectious cause can be identified.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337055">Feature record</a> | <a href="/medgen?term=%22Unexplained%20fevers%22%5BClinical%20Features%5D%20OR%20337055%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8349"><div><strong>Diabetes insipidus</strong><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.">C0011848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8349">Feature record</a> | <a href="/medgen?term=%22Diabetes%20insipidus%22%5BClinical%20Features%5D%20OR%208349%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypernatremia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_205119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertonic dehydration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337055" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unexplained fevers</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constipation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_436211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties in infancy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes insipidus</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megacystis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyuria</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_397841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irritability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polydipsia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0162283[DISCUI]&test_type=Clinical" ref="ncbi_uid=57876">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1177/" ref="ncbi_uid=57876">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=57876" ref="ncbi_uid=57876">V</a></span></span><span class="TLline"><a href="/medgen/57876" ref="tree=GTR&ncbi_uid=57876&link_uid=57876" title="View MedGen record for 'Nephrogenic diabetes insipidus'">Nephrogenic diabetes insipidus</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1563706[DISCUI]&test_type=Clinical" ref="ncbi_uid=289643">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=289643" target="_blank" href="/omim/125800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1177/" ref="ncbi_uid=289643">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=289643" ref="ncbi_uid=289643">V</a></span></span><span class="TLline"><a href="/medgen/289643" ref="tree=GTR&ncbi_uid=289643&link_uid=289643" title="View MedGen record for 'Diabetes insipidus, nephrogenic, autosomal'">Diabetes insipidus, nephrogenic, autosomal</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1563705[DISCUI]&test_type=Clinical" ref="ncbi_uid=288785">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=288785" target="_blank" href="/omim/300538">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1177/" ref="ncbi_uid=288785">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=288785" ref="ncbi_uid=288785">V</a></span></span><span class="TLline">Diabetes insipidus, nephrogenic, X-linked</span></li></ul></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="TLline"><a href="/medgen/8349" ref="tree=MeSH" title="MedGen record for Diabetes insipidus">Diabetes insipidus</a></span><ul><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="matched_ds">Diabetes insipidus, nephrogenic, X-linked</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/20163515">Potential of nonpeptide (ant)agonists to rescue vasopressin V2 receptor mutants for the treatment of X-linked nephrogenic diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Los EL,
|
||
Deen PM,
|
||
Robben JH</span><br />
|
||
<span class="medgenPMjournal">J Neuroendocrinol</span>
|
||
2010 May;22(5):393-9.
|
||
Epub 2010 Feb 12
|
||
doi: 10.1111/j.1365-2826.2010.01983.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20163515" target="_blank">20163515</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16319185">Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernier V,
|
||
Morello JP,
|
||
Zarruk A,
|
||
Debrand N,
|
||
Salahpour A,
|
||
Lonergan M,
|
||
Arthus MF,
|
||
Laperrière A,
|
||
Brouard R,
|
||
Bouvier M,
|
||
Bichet DG</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2006 Jan;17(1):232-43.
|
||
Epub 2005 Nov 30
|
||
doi: 10.1681/ASN.2005080854.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16319185" target="_blank">16319185</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22diabetes%20insipidus%2C%20nephrogenic%2C%20x-linked%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/28134709">Nephrogenic diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bockenhauer D,
|
||
Bichet DG</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2017 Apr;29(2):199-205.
|
||
doi: 10.1097/MOP.0000000000000473.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28134709" target="_blank">28134709</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25902753">Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García Castaño A,
|
||
Pérez de Nanclares G,
|
||
Madariaga L,
|
||
Aguirre M,
|
||
Chocron S,
|
||
Madrid A,
|
||
Lafita Tejedor FJ,
|
||
Gil Campos M,
|
||
Sánchez Del Pozo J,
|
||
Ruiz Cano R,
|
||
Espino M,
|
||
Gomez Vida JM,
|
||
Santos F,
|
||
García Nieto VM,
|
||
Loza R,
|
||
Rodríguez LM,
|
||
Hidalgo Barquero E,
|
||
Printza N,
|
||
Camacho JA,
|
||
Castaño L,
|
||
Ariceta G;
|
||
RenalTube Group</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2015 Oct;174(10):1373-85.
|
||
Epub 2015 Apr 23
|
||
doi: 10.1007/s00431-015-2534-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25902753" target="_blank">25902753</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22427315">Congenital nephrogenic diabetes insipidus: the current state of affairs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wesche D,
|
||
Deen PM,
|
||
Knoers NV</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2012 Dec;27(12):2183-204.
|
||
Epub 2012 Mar 17
|
||
doi: 10.1007/s00467-012-2118-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22427315" target="_blank">22427315</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1357965">X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bichet DG,
|
||
Hendy GN,
|
||
Lonergan M,
|
||
Arthus MF,
|
||
Ligier S,
|
||
Pausova Z,
|
||
Kluge R,
|
||
Zingg H,
|
||
Saenger P,
|
||
Oppenheimer E</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1992 Nov;51(5):1089-1102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1357965" target="_blank">1357965</a><a href="/pmc/articles/PMC1682824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1828844">Platelet vasopressin receptors in patients with congenital nephrogenic diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bichet DG,
|
||
Arthus MF,
|
||
Lonergan M</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
1991 Apr;39(4):693-9.
|
||
doi: 10.1038/ki.1991.83.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1828844" target="_blank">1828844</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20insipidus%2C%20nephrogenic%2C%20X-linked%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 (19)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36460218">Genetic basis of nephrogenic diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hureaux M,
|
||
Vargas-Poussou R</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Endocrinol</span>
|
||
2023 Jan 15;560:111825.
|
||
Epub 2022 Nov 30
|
||
doi: 10.1016/j.mce.2022.111825.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36460218" target="_blank">36460218</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28134709">Nephrogenic diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bockenhauer D,
|
||
Bichet DG</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2017 Apr;29(2):199-205.
|
||
doi: 10.1097/MOP.0000000000000473.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28134709" target="_blank">28134709</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/16580609">Nephrogenic diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bichet DG</span><br />
|
||
<span class="medgenPMjournal">Adv Chronic Kidney Dis</span>
|
||
2006 Apr;13(2):96-104.
|
||
doi: 10.1053/j.ackd.2006.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16580609" target="_blank">16580609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11181969">Nephrogenic diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morello JP,
|
||
Bichet DG</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Physiol</span>
|
||
2001;63:607-30.
|
||
doi: 10.1146/annurev.physiol.63.1.607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11181969" target="_blank">11181969</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20insipidus%2C%20nephrogenic%2C%20X-linked%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 (74)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39041787">A novel AVPR2 gene mutation in a Chinese pedigree with nephrogenic diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Y,
|
||
Li K,
|
||
Chen C,
|
||
Lv X,
|
||
Wang Y,
|
||
Ma L,
|
||
Fu S,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med</span>
|
||
2024 Aug;136(6):683-690.
|
||
Epub 2024 Jul 23
|
||
doi: 10.1080/00325481.2024.2383555.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39041787" target="_blank">39041787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35137152">A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Habiby R,
|
||
Bichet DG,
|
||
Arthus MF,
|
||
Connaughton D,
|
||
Shril S,
|
||
Mane S,
|
||
Majmundar AJ,
|
||
Hildebrandt F,
|
||
Robertson GL</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 May 17;107(6):e2513-e2522.
|
||
doi: 10.1210/clinem/dgac076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35137152" target="_blank">35137152</a><a href="/pmc/articles/PMC9113824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28939971">Pharmacological Chaperones as Potential Therapeutic Strategies for Misfolded Mutant Vasopressin Receptors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mouillac B,
|
||
Mendre C</span><br />
|
||
<span class="medgenPMjournal">Handb Exp Pharmacol</span>
|
||
2018;245:63-83.
|
||
doi: 10.1007/164_2017_50.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28939971" target="_blank">28939971</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/17516711">Pharmacological chaperones in nephrogenic diabetes insipidus: possibilities for clinical application.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robben JH,
|
||
Deen PM</span><br />
|
||
<span class="medgenPMjournal">BioDrugs</span>
|
||
2007;21(3):157-66.
|
||
doi: 10.2165/00063030-200721030-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17516711" target="_blank">17516711</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20insipidus%2C%20nephrogenic%2C%20X-linked%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 (22)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35060513">Congenital nephrogenic diabetes insipidus presenting as osmotic demyelination syndrome in infancy: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kobayashi S,
|
||
Mizuno N,
|
||
Yokoi K,
|
||
Mori T,
|
||
Sohara E,
|
||
Uchida S</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2022 Jan 21;101(3):e28552.
|
||
doi: 10.1097/MD.0000000000028552.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35060513" target="_blank">35060513</a><a href="/pmc/articles/PMC8772767" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28134709">Nephrogenic diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bockenhauer D,
|
||
Bichet DG</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2017 Apr;29(2):199-205.
|
||
doi: 10.1097/MOP.0000000000000473.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28134709" target="_blank">28134709</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26974133">Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamashita S,
|
||
Hata A,
|
||
Usui T,
|
||
Oda H,
|
||
Hijikata A,
|
||
Shirai T,
|
||
Kaneko N,
|
||
Hata D</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2016 May 1;29(5):591-6.
|
||
doi: 10.1515/jpem-2015-0323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26974133" target="_blank">26974133</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10714359">Vasopressin receptor mutations and nephrogenic diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birnbaumer M</span><br />
|
||
<span class="medgenPMjournal">Arch Med Res</span>
|
||
1999 Nov-Dec;30(6):465-74.
|
||
doi: 10.1016/s0188-4409(99)00063-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10714359" target="_blank">10714359</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1357965">X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bichet DG,
|
||
Hendy GN,
|
||
Lonergan M,
|
||
Arthus MF,
|
||
Ligier S,
|
||
Pausova Z,
|
||
Kluge R,
|
||
Zingg H,
|
||
Saenger P,
|
||
Oppenheimer E</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1992 Nov;51(5):1089-1102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1357965" target="_blank">1357965</a><a href="/pmc/articles/PMC1682824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20insipidus%2C%20nephrogenic%2C%20X-linked%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 (19)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38622833">Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghasemi S,
|
||
Mojbafan M,
|
||
Talebi S,
|
||
Hooman N,
|
||
Hoseini R</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2024 Apr;12(4):e2421.
|
||
doi: 10.1002/mgg3.2421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38622833" target="_blank">38622833</a><a href="/pmc/articles/PMC11019120" target="_blank" class="PubMedFree">Free PMC Article</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/17941907">Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faerch M,
|
||
Christensen JH,
|
||
Corydon TJ,
|
||
Kamperis K,
|
||
de Zegher F,
|
||
Gregersen N,
|
||
Robertson GL,
|
||
Rittig S</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2008 Mar;68(3):395-403.
|
||
Epub 2007 Oct 17
|
||
doi: 10.1111/j.1365-2265.2007.03054.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17941907" target="_blank">17941907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9853256">AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wildin RS,
|
||
Cogdell DE,
|
||
Valadez V</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
1998 Dec;54(6):1909-22.
|
||
doi: 10.1046/j.1523-1755.1998.00214.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9853256" target="_blank">9853256</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1357965">X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bichet DG,
|
||
Hendy GN,
|
||
Lonergan M,
|
||
Arthus MF,
|
||
Ligier S,
|
||
Pausova Z,
|
||
Kluge R,
|
||
Zingg H,
|
||
Saenger P,
|
||
Oppenheimer E</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1992 Nov;51(5):1089-1102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1357965" target="_blank">1357965</a><a href="/pmc/articles/PMC1682824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20insipidus%2C%20nephrogenic%2C%20X-linked%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 (32)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1563705%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C1563705%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (24)</a></li>
|
||
<li><a href="/gtr/tests?term=C1563705%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1563705%5bDISCUI%5d" target="_blank">See all (27)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=304800" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Diabetes%20insipidus,%20nephrogenic,%20X-linked" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22diabetes%20insipidus%2C%20nephrogenic%2C%20x-linked%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%2C%20nephrogenic%2C%20X-linked%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></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300538" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=554[geneid]" target="_blank">View AVPR2 variations in ClinVar</a></li><li><a href="/nuccore/208973254" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=304800" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Nephrogenic+diabetes+insipidus/5139" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/diabetes_insipidus_nephrogenic_1_x_linked" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Diabetes%20insipidus,%20nephrogenic,%20X-linked" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-resistance" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15289/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301356" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Diabetes%20insipidus,%20nephrogenic,%20X-linked" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Diabetes%20insipidus,%20nephrogenic,%20X-linked%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=288785" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=288785" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1563705[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1563705[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=288785" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=288785" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=288785" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=288785" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=288785" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=288785" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=288785" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=288785" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=288785" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d43f642f30673f7b3732bd">Diabetes insipidus, nephrogenic, X-linked</a>
|
||
<div class="ralinkpop offscreen_noflow">Diabetes insipidus, nephrogenic, X-linked<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d43f5f2f30673f7b370810">Diabetes insipidus, nephrogenic, autosomal</a>
|
||
<div class="ralinkpop offscreen_noflow">Diabetes insipidus, nephrogenic, autosomal<div class="brieflinkpopdesc"></div></div>
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