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GENE - TERM ANNOTATION REPORT

RGD ID: 3640
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Scnn1b
Name: sodium channel epithelial 1 subunit beta
Acc ID: DOID:4479
Term: pseudohypoaldosteronism
Definition: A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION.
Definition Source(s): MESH:D011546
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Scnn1b ISOSCNN1B (Homo sapiens)1624117RGDPHA type I,OMIM:264350;DNA:point mutation:exon:G37S 
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