Cortisone Reductase Deficiency 1
Disease ID: disease_node_17241
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| Dbxref | MIM:604931, NCI:C131849 |
|---|---|
| Subclassof | DOID_0090139, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CORTRD1 |
| Doid Label | cortisone reductase deficiency 1 |
| Doid Description | A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17241 |
| Doid Id | DOID_0090141 |
| Label | Cortisone Reductase Deficiency 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)