autosomal recessive pseudohypoaldosteronism type 1
Information
- Disease name
- autosomal recessive pseudohypoaldosteronism type 1
- Disease ID
- DOID:0060854
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10202170, url:https\://www.ncbi.nlm.nih.gov/pubmed/10404817, url:https\://www.ncbi.nlm.nih.gov/pubmed/8589714]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:4479
- Cross Reference ID (Disease Ontology)
- GARD:4552
- Cross Reference ID (Disease Ontology)
- MESH:D011546
- Cross Reference ID (Disease Ontology)
- MIM:264350
- Cross Reference ID (Disease Ontology)
- NCI:C123251
- Cross Reference ID (Disease Ontology)
- ORDO:171876
- Cross Reference ID (Disease Ontology)
- ORDO:756
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:43941006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268436
- Exact Synonym (Disease Ontology)
- autosomal recessive PHA 1
- Exact Synonym (Disease Ontology)
- PHA1B