Diabetes insipidus, nephrogenic, 1, X-linked

Preferred Label : Diabetes insipidus, nephrogenic, 1, X-linked;

Symbol : NDI1;

CISMeF acronym : NDI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Diabetes Insipidus, nephrogenic, type I; NDI;

Description : 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 vasopression (AVP; 192340). Approximately 90% of patients are males with the X-linked recessive form (type I), which is caused by a defect in the vasopressin V2 receptor in renal collecting duct cells. The remaining 10% of patients have autosomal NDI (125800) (type II), which is caused by mutations in the gene encoding the aquaporin-2 water channel (AQP2; 107777) on chromosome 12q13 (Morello and Bichet, 2001). Neurogenic, or central, diabetes insipidus (125700) is caused by mutation in the gene encoding arginine vasopression, located on 20p13.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the arginine vasopressin receptor-2 gene (AVPR2, 300538.0001);

Laboratory abnormalities : Hypernatremia; Decreased urine osmolality; Normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340); No increase in urinary cyclic AMP (cAMP) in response to vasopressin or dDAVP; Abnormal extrarenal response to dDAVP (no increase in von Willebrand factor or factor VIII);

Prefixed ID : #304800;

Details

Origin ID

304800;

UMLS CUI

C1563705;

Automatic exact mappings (from CISMeF team)
- AVPR2 wt Allele [NCIt concept]
- Nephrogenic diabetes insipidus [ICD-11 Sub-sub category]
- diabetes insipidus, nephrogenic [MeSH Descriptor]
- nephrogenic diabetes insipidus, type I [MeSH concept]
Broader ORDO disease(s)
- Nephrogenic diabetes insipidus [ORDO Disease]
DO Cross reference
- nephrogenic diabetes insipidus [DO Concept]
False automatic mappings
- National Death Index [NCIt concept]
Genes related to phenotype
- Arginine vasopressin receptor 2 [OMIM gene]
HPO term(s)
- Constipation [HPO term]
- Diabetes insipidus [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Heterogeneous [HPO term]
- Hypernatremia [HPO term]
- Hypertonic dehydration [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Megacystis [HPO term]
- Neonatal onset [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Unexplained fevers [HPO term]
- Vomiting [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Nephrogenic diabetes insipidus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nephrogenic diabetes insipidus, type I [MeSH concept]

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