Hereditary Central Diabetes Insipidus

Description

Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.

Clinical Features

Phenotypes and symptoms related to Hereditary Central Diabetes Insipidus

  • Growth delay
  • Fever
  • Vomiting
  • Diarrhea
  • Weight loss
  • Irritability
  • Lethargy
  • Polydipsia
  • Diabetes insipidus

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

Hereditary Central Diabetes Insipidus Is also known as hereditary cdi, hereditary neurogenic diabetes insipidus.

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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Hereditary Central Diabetes Insipidus 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.

ORPHANET 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 SIFRIM-HITZ-WEISS SYNDROME; SIHIWES SPONDYLOPERIPHERAL DYSPLASIA PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1; IHPS1 CYANOSIS, TRANSIENT NEONATAL; TNCY

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