Hereditary Central 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

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.

Genes related to Hereditary Central Diabetes Insipidus

View recommended genes panels

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.

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 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 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 %

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Sources and references

You can check the following sources for additional information.

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