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Metadata
ID DOID:0060854
Name autosomal recessive pseudohypoaldosteronism type 1
Definition A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.
https://www.ncbi.nlm.nih.gov/pubmed/10202170, https://www.ncbi.nlm.nih.gov/pubmed/10404817, https://www.ncbi.nlm.nih.gov/pubmed/8589714
Xrefs

GARD:4552

MESH:D011546

NCI:C123251

OMIM:264350

ORDO:171876

ORDO:756

SNOMEDCT_US_2020_09_01:43941006

UMLS_CUI:C0268436

Subsets

NCIthesaurus

Synonyms

autosomal recessive PHA 1 [EXACT]

PHA1B [EXACT]

Parent Relationships

is_a pseudohypoaldosteronism

is_a autosomal recessive disease

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