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glucocorticoid-remediable aldosteronism
Summary
- Synonym
-
- GRA
- GRS
- familial hyperaldosteronism type I
- glucocorticoid-suppressible hyperaldosteronism
- Definition
- A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3.
- Super Class
- primary hyperaldosteronism
External Links
- Disease Ontology
- DOID:14080
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 847 | CAT | catalase | |
| 873 | CBR1 | carbonyl reductase 1 | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1584 | CYP11B1 | cytochrome P450 family 11 subfamily B member 1 | |
| 1585 | CYP11B2 | cytochrome P450 family 11 subfamily B member 2 | |
| 2765 | GML | glycosylphosphatidylinositol anchored molecule like | |
| 2876 | GPX1 | glutathione peroxidase 1 | |
| 10327 | AKR1A1 | aldo-keto reductase family 1 member A1 | |
| 51477 | ISYNA1 | inositol-3-phosphate synthase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04040 | Catalase | |
| P07203 | Glutathione peroxidase 1 | |
| P14550 | Aldo-keto reductase family 1 member A1 | |
| P16152 | Carbonyl reductase [NADPH] 1 | |
| Q9NPH2 | Inositol-3-phosphate synthase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011746 | Secretory adrenocortical adenoma |
| HP:0001959 | Polydipsia |
| HP:0008221 | Adrenal hyperplasia |
| HP:0000840 | Adrenogenital syndrome |
| HP:0003621 | Juvenile onset |
| HP:0000079 | Abnormality of the urinary system |
| HP:0011463 | Childhood onset |
| HP:0003351 | Decreased circulating renin level |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003581 | Adult onset |
