Nephrogenic Diabetes Insipidus

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Nephrogenic Diabetes Insipidus

AVPR2
AQP2

View recommended genes panels

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.

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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

BARI — Dr Maria SVELTO
Investigator of research project
- Institution/s:
  — Consiglio Nazionale delle Ricerche
- Research area/topic::
  Potential therapeutic effect of beta3-adrenergic receptor agonists on X-linked Nephrogenic Diabetes Insipidus

Nephrogenic Diabetes Insipidus Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Nephrogenic Diabetes Insipidus (AVPR2) DNA Sequencing Test. By Athena Diagnostics Inc (United States). AVPR2 Specificity 100 % Genes 50 %
Nephrogenic Diabetes Insipidus Evaluation. By Athena Diagnostics Inc (United States). AQP2, AVPR2 Specificity 100 % Genes 100 %
AVPR2. By Institute for Human Genetics University Clinic Freiburg (Germany). AVPR2 Specificity 100 % Genes 50 %
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 Panel complete gene list SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS, CUL3, CYP11B2, CYP24A1, ENPP1, AGXT, FAH, FGF23, GALNT3, GATA3, GCM2, GNA11, GNAS, GRHPR, HPRT1, HSD11B2, AP2S1, KCNJ1, APRT, AQP2, KLHL3, NR3C2, OCRL, ATP6V1B1, ATP6V0A4, PHEX, AVP, AVPR2, PTH Specificity 5 % Genes 100 %
AVPR2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). AVPR2 Specificity 100 % Genes 50 %
Diabetes insipidus, nephrogenic X-linked (sequence analysis of AVPR2 gene). By CGC Genetics (Portugal). AVPR2 Specificity 100 % Genes 50 %
Nephrogenic diabetes insipidus, x-linked. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). AVPR2 Specificity 100 % Genes 50 %
Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Sequencing Panel. By PreventionGenetics PreventionGenetics (United States). AQP2, AVP, AVPR2 Specificity 67 % Genes 100 %

You can get up to 40 more panels with our dedicated tool

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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