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.
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 moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7 GLOMUVENOUS MALFORMATIONS; GVM EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5 COMBINED SAPOSIN DEFICIENCY MYOTONIC DYSTROPHY 2; DM2 8P11.2 DELETION SYNDROME NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1