Diabetes Insipidus, Nephrogenic, Autosomal (ANDI)

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OMIM 57 125800 Disease Ontology 12 DOID:12387 ICD10 33 N25.1 ICD9CM 35 588.1 MeSH 44 D018500 NCIt 50 C84919 Orphanet 59 ORPHA223

MESH via Orphanet 45 D018500 UMLS via Orphanet 74 C0162283 ICD10 via Orphanet 34 N25.1 MedGen 42 C1563706 KEGG 37 H00252 SNOMED-CT via HPO 69 263681008 258211005 69758005 95576001 236423003 42399005 28442001 56574000 718402002 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 224958001 36440009 432788009 86203003 386661006 50177009 17173007 267026004 249497008 300359004 422400008 16932000 14760008 225595004 79890006 76023003 286926003 39355002 237836003 427784006 111395007 8009008 28560003 78164000 more UMLS 73 C0162283 C0677501 C3542500

NIH Rare Diseases : ⁵³ Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to produce a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body called antidiuretic hormone (ADH) or vasopressin. ADH normally tells the kidneys to make the urine more concentrated. As a result of the defect, the kidneys release an excessive amount of water into the urine, producing a large quantity of very dilute urine. The most common symptoms are frequent urination (polyuria), especially during nighttime (nocturia), and drinking too much liquids (polydipsia). It can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. About 90% of all cases of hereditary nephrogenic diabetes insipidus result from mutations in the AVPR2 gene, and about  10% of cases are caused by mutations in the AQP2 gene. Treatment consists of plenty of water intake; medication, such as thiazide diuretics and NSAIDs; and a low-salt, low-protein diet.

MalaCards based summary : Diabetes Insipidus, Nephrogenic, Autosomal, also known as nephrogenic diabetes insipidus, is related to diabetes insipidus, nephrogenic, x-linked and diabetes insipidus, neurohypophyseal. An important gene associated with Diabetes Insipidus, Nephrogenic, Autosomal is AQP2 (Aquaporin 2), and among its related pathways/superpathways are Vasopressin-regulated water reabsorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include kidney, bone and brain, and related phenotypes are seizures and failure to thrive

Disease Ontology : ¹² An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).

Genetics Home Reference : ²⁵ Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected individuals can quickly become dehydrated if they do not drink enough water, especially in hot weather or when they are sick.

OMIM : ⁵⁷ 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; 192340). Approximately 90% of patients are males with the X-linked recessive form, type I (304800), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2; 300538). 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; 125700) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13. (125800)

UniProtKB/Swiss-Prot : ⁷⁵ Diabetes insipidus, nephrogenic, autosomal: A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive.

Wikipedia : ⁷⁶ Nephrogenic diabetes insipidus (also known as renal diabetes insipidus) is a form of diabetes insipidus... more...

GeneReviews: NBK1177

Clinical features from OMIM:

125800

Search Clinical Trials , NIH Clinical Center for Diabetes Insipidus, Nephrogenic, Autosomal

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