Preferred Label : Nephrogenic syndrome of inappropriate antidiuresis;
Symbol : NSIAD;
CISMeF acronym : NSIAD;
Type : Phenotype, molecular basis known;
Description : The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause
of hyponatremia. The syndrome manifests as an inability to excrete a free water load,
with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality,
and natriuresis. SIADH occurs in a setting of normal blood volume, without evidence
of renal disease or deficiency of thyroxine or cortisol. Although usually transient,
SIADH may be chronic; it is often associated with drug use or a lesion in the central
nervous system or lung. When the cardinal features of SIADH were defined by Bartter
and Schwartz (1967), levels of AVP could not be measured. Subsequently, radioimmunoassays
revealed that;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the arginine vasopressin receptor 2 gene (AVPR2, 300538.0021);
Laboratory abnormalities : Hyponatremia; Decreased serum osmolality; Inappropriately increased urine osmolality; Increased urinary sodium; Decreased serum BUN; Mildly decreased serum creatinine; Decreased plasma renin activity; Normal aldosterone; Euvolemia; Undetectable serum arginine vasopressin, or antidiuretic hormone (ADH, AVP, 192340);
Prefixed ID : #300539;
Origin ID : 300539;
UMLS CUI : C1845202;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- Matching ORDO disease(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
