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GTR Home > Conditions/Phenotypes > Autosomal dominant pseudohypoaldosteronism type 1

Autosomal dominant pseudohypoaldosteronism type 1

Synonyms
PHA I, AUTOSOMAL DOMINANT; Pseudohypoaldosteronism Type 1, Dominant; Pseudohypoaldosteronism, Type I, Autosomal Dominant; Pseudohypoaldosteronism, Type I, Dominant
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Autosomal dominant pseudohypoaldosteronism type I (PHA1A) 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 pseudohypoaldosteronism type I (see PHA1B1, 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. [from OMIM]

Available tests

29 tests are in the database for this condition.

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Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MCR, MLR, MR, NR3C2VIT, NR3C2
    Summary: nuclear receptor subfamily 3 group C member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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