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cortisone reductase deficiency 2
Summary
- Synonym
-
- CORTRD2
- Definition
- A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32.
- Super Class
- autosomal dominant disease cortisone reductase deficiency
External Links
- Disease Ontology
- DOID:0090140
- NCI Thesaurus
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28845 | 11-beta-hydroxysteroid dehydrogenase 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P50172 | 11-beta-hydroxysteroid dehydrogenase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000855 | Insulin resistance |
| HP:0012411 | Premature pubarche |
| HP:0001513 | Obesity |
| HP:0003621 | Juvenile onset |
| HP:0000956 | Acanthosis nigricans |
| HP:0005616 | Accelerated skeletal maturation |
