Diabetes Insipidus, Nephrogenic, Autosomal

Description

Nephrogenic diabetes insipidus 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 ). Approximately 90% of patients are males with the X-linked recessive form, type I (OMIM ), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2 ). The remaining 10% of patients have the autosomal form, type II, caused by mutation in the AQP2 gene (Morello and Bichet, 2001).Neurogenic, or central, diabetes insipidus (CDI ) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.

Clinical Features

Top most frequent phenotypes and symptoms related to Diabetes Insipidus, Nephrogenic, Autosomal

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Feeding difficulties
  • Fever
  • Vomiting
  • Constipation
  • Feeding difficulties in infancy
  • Irritability

And another 9 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, Nephrogenic, Autosomal Is also known as diabetes insipidus, nephrogenic, type ii.

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.

Diabetes Insipidus, Nephrogenic, Autosomal Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AQP2 (Nephrogenic Diabetes Insipidus) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

AQP2
Specificity
100 %
Genes
100 %
Nephrogenic Diabetes Insipidus Evaluation.

By Athena Diagnostics Inc (United States).

AQP2, AVPR2
Specificity
50 %
Genes
100 %
AQP2.

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

AQP2
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 %
AQP2. Complete sequencing.

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

AQP2
Specificity
100 %
Genes
100 %
Nephrogenic diabetes insipidus (sequence analysis of AQP2 gene).

By CGC Genetics (Portugal).

AQP2
Specificity
100 %
Genes
100 %
Nephrogenic diabetes insipidus, autosomal.

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

AQP2
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 %

You can get up to 19 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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