Diabetes insipidus, nephrogenic, 2, autosomal

Preferred Label : Diabetes insipidus, nephrogenic, 2, autosomal;

Symbol : NDI2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Diabetes insipidus, nephrogenic, type II;

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 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.;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the aquaporin-2 gene (AQP2, 107777.0001);

Laboratory abnormalities : Hypernatremia; High serum osmolality; Inappropriately low urine osmolality; Normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340); Normal extrarenal responses to dDAVP administration; Increased urinary cyclic AMP (cAMP) in response to dDAVP administration;

Prefixed ID : #125800;

Details

Origin ID

125800;

UMLS CUI

C1563706;

Automatic exact mappings (from CISMeF team)
- diabetes insipidus, nephrogenic [MeSH Descriptor]
- nephrogenic diabetes insipidus, type II [MeSH concept]
Broader ORDO disease(s)
- Nephrogenic diabetes insipidus [ORDO Disease]
DO Cross reference
- nephrogenic diabetes insipidus [DO Concept]
Genes related to phenotype
- Aquaporin 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Constipation [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Hypernatremia [HPO term]
- Hypertonic dehydration [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Megacystis [HPO term]
- Neonatal onset [HPO term]
- Nephrogenic diabetes insipidus [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Unexplained fevers [HPO term]
- Vomiting [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 II [MeSH concept]

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