Diabetes Insipidus, Neurohypophyseal

Description

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

Clinical Features

Top most frequent phenotypes and symptoms related to Diabetes Insipidus, Neurohypophyseal

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Fever
  • Fatigue
  • Vomiting
  • Short nose
  • Long philtrum

And another 31 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Diabetes Insipidus, Neurohypophyseal Is also known as diabetes insipidus, cranial type, diabetes insipidus, primary central, cdi.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Diabetes Insipidus, Neurohypophyseal Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AVP.

By Institute for Human Genetics University Clinic Freiburg (Germany).

AVP
Specificity
100 %
Genes
100 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
AVP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

AVP
Specificity
100 %
Genes
100 %
Diabetes insipidus, primary central (sequence analysis of AVP gene).

By CGC Genetics (Portugal).

AVP
Specificity
100 %
Genes
100 %
Neurohypophyseal diabetes insipidus.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

AVP
Specificity
100 %
Genes
100 %
Central diabetes insipidus.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

AVP
Specificity
100 %
Genes
100 %
Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

AQP2, AVP, AVPR2
Specificity
34 %
Genes
100 %
Neurohypophyseal Diabetes Insipidus (NDI) via AVP Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

AVP
Specificity
100 %
Genes
100 %

We have 11 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1; NDNC1 SPASTIC PARAPLEGIA-PAGET DISEASE OF BONE SYNDROME LAMB-SHAFFER SYNDROME; LAMSHF MICROCEPHALY-MICROMELIA SYNDROME; MIMIS MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY BARDET-BIEDL SYNDROME 21; BBS21

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