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<meta name="keywords" content="C0162283, adh resistant diabetes insipidus, arginine vasopressin resistance, avp-r - arginine vasopressin resistance, diabetes insipidus nephrogenic, diabetes insipidus nephrogenic type 1, diabetes insipidus nephrogenic x-linked, diabetes insipidus, nephrogenic, disease or syndrome, ndi - nephrogenic diabetes insipidus, nephrogenic diabetes insipidus, vasopressin resistance, vasopressin-resistant diabetes insipidus, 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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<title>Nephrogenic diabetes insipidus (Concept Id: C0162283)
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<!--
UID=57876
ConceptID=C0162283
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Nephrogenic diabetes insipidus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57876</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0162283</span></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>ADH resistant diabetes insipidus; Diabetes insipidus nephrogenic X-linked; Vasopressin-resistant diabetes insipidus</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Nephrogenic diabetes insipidus (111395007); NDI - Nephrogenic diabetes insipidus (111395007); Arginine vasopressin resistance (111395007); Vasopressin resistance (111395007); AVP-R - arginine vasopressin resistance (111395007)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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)&#10;Click for more information.">C0441748</a></dd><dt><span class="dotprefix"></span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"></span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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)&#10;Click for more information.">C1845977</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
Gene(s) associated with related conditions. For conditions<br />
in a hierarchy, the parent condition will list the genes<br />
associated with the children conditions.</div></td>
<td><a target="_blank" href="/gene/554">AVPR2</a>, <a target="_blank" href="/gene/359">AQP2</a></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:0009806">HP:0009806</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0016383" target="_blank">MONDO:0016383</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=223">ORPHA223</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>
<div class="portlet mgSection" id="ID_101">
<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>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><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). <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 />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 />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 />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.  <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_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><li><a href="#tabORDO">Orphanet</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=C0162283[DISCUI]&amp;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&amp;from_uid=57876" ref="ncbi_uid=57876">V</a></span></span><span class="TLline">Nephrogenic diabetes insipidus</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]&amp;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&amp;from_uid=289643" ref="ncbi_uid=289643">V</a></span></span><span class="TLline"><a href="/medgen/289643" ref="tree=GTR&amp;ncbi_uid=289643&amp;link_uid=289643" title="View MedGen record for 'Diabetes insipidus, nephrogenic, autosomal'">Diabetes insipidus, nephrogenic, autosomal</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1563705[DISCUI]&amp;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&amp;from_uid=288785" ref="ncbi_uid=288785">V</a></span></span><span class="TLline"><a href="/medgen/288785" ref="tree=GTR&amp;ncbi_uid=288785&amp;link_uid=288785" title="View MedGen record for 'Diabetes insipidus, nephrogenic, X-linked'">Diabetes insipidus, nephrogenic, X-linked</a></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="matched_ds">Nephrogenic diabetes insipidus</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></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=3726&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Nephrogenic diabetes insipidus</span> in Orphanet.</div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_289643"><div><strong>Diabetes insipidus, nephrogenic, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>289643</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)&#10;Click for more information.">C1563706</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/289643">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_387791"><div><strong>Nephrogenic diabetes insipidus-intracranial calcification syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387791</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)&#10;Click for more information.">C1857297</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/387791">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347219"><div><strong>Arthrogryposis, renal dysfunction, and cholestasis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347219</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)&#10;Click for more information.">C1859722</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Arthrogryposis, renal dysfunction, and cholestasis-1 (ARCS1) is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis with low GGT (612346) activity, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life (Gissen et al., 2006; Smith et al., 2012).&#13; Another form of arthrogryposis, renal dysfunction, and cholestasis, ARCS2 (613404), is caused by mutation in the VIPAR gene on chromosome 14q24 (613401).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347219">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_422452"><div><strong>Bardet-Biedl syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>422452</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)&#10;Click for more information.">C2936862</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014).&#13; Genetic Heterogeneity of Bardet-Biedl Syndrome&#13; BBS2 (615981) is caused by mutation in a gene on 16q13 (606151); BBS3 (600151), by mutation in the ARL6 gene on 3q11 (608845); BBS4 (615982), by mutation in a gene on 15q22 (600374); BBS5 (615983), by mutation in a gene on 2q31 (603650); BBS6 (605231), by mutation in the MKKS gene on 20p12 (604896); BBS7 (615984), by mutation in a gene on 4q27 (607590); BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132); BBS9 (615986), by mutation in a gene on 7p14 (607968); BBS10 (615987), by mutation in a gene on 12q21 (610148); BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290); BBS12 (615989), by mutation in a gene on 4q27 (610683); BBS13 (615990), by mutation in the MKS1 gene (609883) on 17q23; BBS14 (615991), by mutation in the CEP290 gene (610142) on 12q21, BBS15 (615992), by mutation in the WDPCP gene (613580) on 2p15; BBS16 (615993), by mutation in the SDCCAG8 gene (613524) on 1q43; BBS17 (615994), by mutation in the LZTFL1 gene (606568) on 3p21; BBS18 (615995), by mutation in the BBIP1 gene (613605) on 10q25; BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12; BBS20 (619471), by mutation in the IFT172 gene (607386) on 9p21; BBS21 (617406), by mutation in the CFAP418 gene (614477) on 8q22; and BBS22 (617119), by mutation in the IFT74 gene (608040) on 9p21.&#13; The CCDC28B gene (610162) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; 609884), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.&#13; Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene (608845.0002) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene (209901.0001).&#13; Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (613464), caused by TTC8 mutation, and RP55 (613575), caused by ARL6 mutation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/422452">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462022"><div><strong>Arthrogryposis, renal dysfunction, and cholestasis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462022</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)&#10;Click for more information.">C3150672</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462022">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)&#10;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).&#13; 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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347219" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, renal dysfunction, and cholestasis 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462022" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, renal dysfunction, and cholestasis 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_422452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 1</a></div>
<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_289643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes insipidus, nephrogenic, autosomal</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_387791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrogenic diabetes insipidus-intracranial calcification syndrome</a></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/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/32387127">Diagnosis and differential diagnosis of diabetes insipidus: Update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Refardt J</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
2020 Sep;34(5):101398.
Epub 2020 Feb 28
doi: 10.1016/j.beem.2020.101398.
<span class="bold">PMID: </span><a href="/pubmed/32387127" target="_blank">32387127</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26077742">Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bockenhauer D,
Bichet DG</span><br />
<span class="medgenPMjournal">Nat Rev Nephrol</span>
2015 Oct;11(10):576-88.
Epub 2015 Jun 16
doi: 10.1038/nrneph.2015.89.
<span class="bold">PMID: </span><a href="/pubmed/26077742" target="_blank">26077742</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22nephrogenic%20diabetes%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 (52)</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/27516079">Lithium Poisoning.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baird-Gunning J,
Lea-Henry T,
Hoegberg LCG,
Gosselin S,
Roberts DM</span><br />
<span class="medgenPMjournal">J Intensive Care Med</span>
2017 May;32(4):249-263.
Epub 2016 Aug 11
doi: 10.1177/0885066616651582.
<span class="bold">PMID: </span><a href="/pubmed/27516079" target="_blank">27516079</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/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=%22Nephrogenic%20diabetes%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 (172)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35146976">Nephrogenic diabetes insipidus: a comprehensive overview.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vaz de Castro PAS,
Bitencourt L,
de Oliveira Campos JL,
Fischer BL,
Soares de Brito SBC,
Soares BS,
Drummond JB,
Simões E Silva AC</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2022 Apr 26;35(4):421-434.
Epub 2022 Feb 11
doi: 10.1515/jpem-2021-0566.
<span class="bold">PMID: </span><a href="/pubmed/35146976" target="_blank">35146976</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/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 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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrogenic%20diabetes%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 (405)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33263481">Lithium-associated hyperparathyroidism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mifsud S,
Cilia K,
Mifsud EL,
Gruppetta M</span><br />
<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
2020 Nov 2;81(11):1-9.
Epub 2020 Nov 17
doi: 10.12968/hmed.2020.0457.
<span class="bold">PMID: </span><a href="/pubmed/33263481" target="_blank">33263481</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 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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrogenic%20diabetes%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 (365)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/30012135">Atorvastatin in the treatment of Lithium-induced nephrogenic diabetes insipidus: the protocol of a randomized controlled trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fotso Soh J,
Torres-Platas SG,
Beaulieu S,
Mantere O,
Platt R,
Mucsi I,
Saury S,
Renaud S,
Levinson A,
Andreazza AC,
Mulsant BH,
Müller D,
Schaffer A,
Dols A,
Cervantes P,
Low NC,
Herrmann N,
Christensen BM,
Trepiccione F,
Rajji T,
Rej S</span><br />
<span class="medgenPMjournal">BMC Psychiatry</span>
2018 Jul 16;18(1):227.
doi: 10.1186/s12888-018-1793-9.
<span class="bold">PMID: </span><a href="/pubmed/30012135" target="_blank">30012135</a><a href="/pmc/articles/PMC6048831" 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/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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrogenic%20diabetes%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 (106)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/27516079">Lithium Poisoning.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baird-Gunning J,
Lea-Henry T,
Hoegberg LCG,
Gosselin S,
Roberts DM</span><br />
<span class="medgenPMjournal">J Intensive Care Med</span>
2017 May;32(4):249-263.
Epub 2016 Aug 11
doi: 10.1177/0885066616651582.
<span class="bold">PMID: </span><a href="/pubmed/27516079" target="_blank">27516079</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=%22Nephrogenic%20diabetes%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 (155)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/36161425">Psychotropic Drugs and Adverse Kidney Effects: A Systematic Review of the Past Decade of Research.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Damba JJ,
Bodenstein K,
Lavin P,
Drury J,
Sekhon H,
Renoux C,
Trinh E,
Rej S,
Greenway KT</span><br />
<span class="medgenPMjournal">CNS Drugs</span>
2022 Oct;36(10):1049-1077.
Epub 2022 Sep 26
doi: 10.1007/s40263-022-00952-y.
<span class="bold">PMID: </span><a href="/pubmed/36161425" target="_blank">36161425</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31837914">Systematic review and practical guideline for the prevention and management of the renal side effects of lithium therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schoot TS,
Molmans THJ,
Grootens KP,
Kerckhoffs APM</span><br />
<span class="medgenPMjournal">Eur Neuropsychopharmacol</span>
2020 Feb;31:16-32.
Epub 2019 Dec 11
doi: 10.1016/j.euroneuro.2019.11.006.
<span class="bold">PMID: </span><a href="/pubmed/31837914" target="_blank">31837914</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30651171">Endocrinological Disorders Related to the Medical Use of Lithium. A Narrative Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">García-Maldonado G,
Castro-García RJ</span><br />
<span class="medgenPMjournal">Rev Colomb Psiquiatr (Engl Ed)</span>
2019 Jan-Mar;48(1):35-43.
Epub 2017 Feb 22
doi: 10.1016/j.rcp.2017.01.003.
<span class="bold">PMID: </span><a href="/pubmed/30651171" target="_blank">30651171</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27357223">Molecular mechanisms in lithium-associated renal disease: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rej S,
Pira S,
Marshe V,
Do A,
Elie D,
Looper KJ,
Herrmann N,
Müller DJ</span><br />
<span class="medgenPMjournal">Int Urol Nephrol</span>
2016 Nov;48(11):1843-1853.
Epub 2016 Jun 29
doi: 10.1007/s11255-016-1352-6.
<span class="bold">PMID: </span><a href="/pubmed/27357223" target="_blank">27357223</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15806465">Causes of reversible nephrogenic diabetes insipidus: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garofeanu CG,
Weir M,
Rosas-Arellano MP,
Henson G,
Garg AX,
Clark WF</span><br />
<span class="medgenPMjournal">Am J Kidney Dis</span>
2005 Apr;45(4):626-37.
doi: 10.1053/j.ajkd.2005.01.008.
<span class="bold">PMID: </span><a href="/pubmed/15806465" target="_blank">15806465</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrogenic%20diabetes%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 (8)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0162283%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
<li><a href="/gtr/tests?term=C0162283%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C0162283%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
<li><a href="/gtr/tests?term=C0162283%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0162283%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=223" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Nephrogenic%20diabetes%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=(%22nephrogenic%20diabetes%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(%22Nephrogenic%20diabetes%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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