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Pseudohypoaldosteronism, type IB1, autosomal recessive
rareGeneralized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.
- Identifiers
- MONDO:0009917 OMIM:264350Orphanet:171876
- Causal genes
- SCNN1A
- Part of
- Pseudohypoaldosteronism type 1
- Also known as
- autosomal recessive PHA 1 · autosomal recessive pseudohypoaldosteronism type 1 · generalised PHA1 · generalised pseudohypoaldosteronism type 1 · generalized PHA1
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