ZFIN Human Disease: autosomal recessive pseudohypoaldosteronism type 1

OBO ID: DOID:0060854

Term Name:	autosomal recessive pseudohypoaldosteronism type 1		Search Ontology:
Synonyms:	autosomal recessive PHA 1 PHA1B
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. (3)
References:	GARD:4552 MESH:D011546 NCI:C123251 OMIM:264350 ORDO:171876 ORDO:756 SNOMEDCT_US_2023_03_01:43941006 UMLS_CUI:C0268436
Ontology:	Human Disease ( DOID:0060854 )

Relationships

is a type of:	autosomal recessive disease pseudohypoaldosteronism autosomal recessive disease pseudohypoaldosteronism Show first 5 Terms

OTHER autosomal recessive pseudohypoaldosteronism type 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SCNN1A		Pseudohypoaldosteronism, type IB1, autosomal recessive

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None