Nephrogenic Diabetes Insipidus
Description
Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.
Clinical Features
Top most frequent phenotypes and symptoms related to Nephrogenic Diabetes Insipidus
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Growth delay
- Failure to thrive
- Feeding difficulties
- Fever
- Vomiting
- Renal insufficiency
And another 24 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available NEPHROGENIC DIABETES INSIPIDUS have a estimated prevalence of 0.15 per 100k worldwide.— No data available about the known clinical features onset.
Alternative names
Nephrogenic Diabetes Insipidus Is also known as ndi, diabetes insipidus, nephrogenic, type i.
Researches and researchers
Doctors, researchs, and experts related to Nephrogenic Diabetes Insipidus extracted from public data.
Nephrogenic Diabetes Insipidus Experts map
Current Researchs and researchers
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Investigator of research projectBARI — Dr Maria SVELTO
-
Institution/s:
— Consiglio Nazionale delle Ricerche -
Research area/topic::
Potential therapeutic effect of beta3-adrenergic receptor agonists on X-linked Nephrogenic Diabetes Insipidus
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Institution/s:
Nephrogenic Diabetes Insipidus Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
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AVPR2
Specificity
100 %
Genes
50 % |
![]() By Athena Diagnostics Inc (United States).
AQP2, AVPR2
Specificity
100 %
Genes
100 % |
![]() By Institute for Human Genetics University Clinic Freiburg (Germany).
AVPR2
Specificity
100 %
Genes
50 % |
![]() 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
5 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
AVPR2
Specificity
100 %
Genes
50 % |
![]() By CGC Genetics (Portugal).
AVPR2
Specificity
100 %
Genes
50 % |
![]() By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).
AVPR2
Specificity
100 %
Genes
50 % |
![]() By PreventionGenetics PreventionGenetics (United States).
AQP2, AVP, AVPR2
Specificity
67 %
Genes
100 % |
You can get up to 40 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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