Pseudohypoaldosteronism, type I, autosomal dominant

Preferred Label : Pseudohypoaldosteronism, type I, autosomal dominant;

Symbol : PHA1A;

CISMeF acronym : PHA1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pha I, autosomal dominant;

Description : Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I (summary by Geller et al., 1998). Autosomal recessive PHA (PHA1B; 264350), caused by mutation in any one of 3 genes encoding the epithelial sodium channel (ENaC), is a similar but more severe systemic disorder with persistence into adulthood.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear receptor subfamily 3, group C, member 2 gene (NR3C2, 600983.0001);

Laboratory abnormalities : Hyponatremia; Hyperkalemia; Increased serum aldosterone; Increased plasma renin activity;

Prefixed ID : #177735;

Details

Origin ID

177735;

UMLS CUI

C1449842;

Automatic exact mappings (from CISMeF team)
- Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect [NCIt concept]
- Renal pseudohypoaldosteronism type 1 [ICD-11 More detail]
- autosomal dominant pseudohypoaldosteronism type 1 [DO Concept]
- pseudohypoaldosteronism [MeSH Descriptor]
Currated CISMeF NLP mapping
- Renal pseudohypoaldosteronism type 1 [ORDO Disease]
- pseudohypoaldosteronism, type I, autosomal dominant [MeSH concept]
DO Cross reference
- autosomal dominant pseudohypoaldosteronism type 1 [DO Concept]
Genes related to phenotype
- Nuclear receptor subfamily 3, group C, member 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dehydration [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Hyperactive renin-angiotensin system [HPO term]
- Hyperaldosteronism [HPO term]
- Hyperkalemia [HPO term]
- Hyponatremia [HPO term]
- Hypotension [HPO term]
- Increased circulating renin level [HPO term]
- Metabolic acidosis [HPO term]
- Neonatal onset [HPO term]
- Pseudohypoaldosteronism [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Pseudohypoaldosteronism type 1 [ORDO Disease]
- Renal pseudohypoaldosteronism type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Renal pseudohypoaldosteronism type 1 [ORDO Disease]
- pseudohypoaldosteronism, type I, autosomal dominant [MeSH concept]

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