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

Autosomal recessive pseudohypoaldosteronism type 1

Synonyms
PHA I, AUTOSOMAL RECESSIVE; PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE; Pseudohypoaldosteronism Type 1, Recessive; Pseudohypoaldosteronism, Type I, Autosomal Recessive; Pseudohypoaldosteronism, Type I, Recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive pseudohypoaldosteronism type I, including PHA1B1, is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; 219700). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999). A milder, autosomal dominant form of type I pseudohypoaldosteronism (PHA1A; 177735) is caused by mutations in the mineralocorticoid receptor gene (MCR, NR3C2; 600983). Gitelman syndrome (263800), another example of primary renal tubular salt wasting, is due to mutation in the thiazide-sensitive sodium-chloride cotransporter (SLC12A3; 600968). Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases. [from OMIM]

Available tests

57 tests are in the database for this condition.

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Clinical tests (57 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BESC2, ENaCa, ENaCalpha, LIDLS3, PHA1B1, SCNEA, SCNN1, SCNN1A
    Summary: sodium channel epithelial 1 subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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