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cortisone reductase deficiency 1
Summary
- Synonym
-
- CORTRD1
- Definition
- 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.
- Super Class
- autosomal recessive disease cortisone reductase deficiency
External Links
- Disease Ontology
- DOID:0090141
- Mondo Disease Ontology
- NCI Thesaurus
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95479 | GDH/6PGL endoplasmic bifunctional protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000876 | Oligomenorrhea |
| HP:0001596 | Alopecia |
| HP:0000789 | Infertility |
| HP:0003596 | Middle age onset |
| HP:0001061 | Acne |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003581 | Adult onset |
| HP:0001007 | Hirsutism |
| HP:0003621 | Juvenile onset |
| HP:0000826 | Precocious puberty |
