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_2022_03_01:43941006
  • UMLS_CUI:C0268436
Ontology: Human Disease   (DOID:0060854)
OTHER autosomal recessive pseudohypoaldosteronism type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SCNN1A Pseudohypoaldosteronism, type I 264350
SCNN1B Pseudohypoaldosteronism, type I 264350
SCNN1G Pseudohypoaldosteronism, type I 264350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None