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GTR Home > Conditions/Phenotypes > Pseudohypoaldosteronism, type IB3, autosomal recessive

Pseudohypoaldosteronism, type IB3, autosomal recessive

Summary

Autosomal recessive pseudohypoaldosteronism type IB3 (PHA1B3) 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). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BESC3, ENaCg, ENaCgamma, LDLS2, PHA1, PHA1B3, SCNEG, SCNN1G
    Summary: sodium channel epithelial 1 subunit gamma

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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