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MIRAGE
autosomal recessive pseudohypoaldosteronism type 1
Summary
- Synonym
-
- PHA1B
- autosomal recessive PHA 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.
- Super Class
- autosomal recessive disease pseudohypoaldosteronism
External Links
- Disease Ontology
- DOID:0060854
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9WU38 | Epithelial sodium channel subunit beta | |
| Q9WU39 | Epithelial sodium channel subunit gamma |
