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GTR Home > Conditions/Phenotypes > Diabetes insipidus, nephrogenic, X-linked

Diabetes insipidus, nephrogenic, X-linked

Synonyms
Diabetes insipidus nephrogenic type 1; Nephrogenic Diabetes Insipidus, Type I

Summary

Excerpted from the GeneReview: Hereditary Nephrogenic Diabetes Insipidus
Hereditary nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production) and polydipsia (excessive thirst). Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with illness, hot environment, or the withholding of water. Short stature and secondary dilatation of the ureters and bladder from the high urine volume is common in untreated individuals.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Nine Knoers
Henny Lemmink
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Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADHR, DI1, DIR, DIR3, NDI, NDI1, V2R, AVPR2
    Summary: arginine vasopressin receptor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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