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congenital adrenal hyperplasia
Summary
- Synonym
-
- adrenal hyperplasia 1
- congenital lipoid adrenal hyperplasia
- lipoid CAH
- Definition
- A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.
- Super Class
- physical disorder steroid inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0050811
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1557 | CYP2C19 | cytochrome P450 family 2 subfamily C member 19 | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 1584 | CYP11B1 | cytochrome P450 family 11 subfamily B member 1 | |
| 1585 | CYP11B2 | cytochrome P450 family 11 subfamily B member 2 | |
| 1586 | CYP17A1 | cytochrome P450 family 17 subfamily A member 1 | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 | |
| 2271 | FH | fumarate hydratase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P49748 | Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | |
| Q04760 | Lactoylglutathione lyase | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 | |
| Q7RTW8 | Otoancorin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008258 | Congenital adrenal hyperplasia |
| HP:0008675 | Enlarged polycystic ovaries |
| HP:0008689 | Bilateral cryptorchidism |
| HP:0008726 | Hypoplasia of the vagina |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype |
| HP:0008734 | Decreased testicular size |
| HP:0010465 | Precocious puberty in females |
| HP:0011749 | Adrenocorticotropic hormone excess |
| HP:0011969 | Elevated circulating luteinizing hormone level |
| HP:0012041 | Decreased fertility in males |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 1586 | CYP17A1 | cytochrome P450 family 17 subfamily A member 1 |
| 3284 | HSD3B2 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
| 1584 | CYP11B1 | cytochrome P450 family 11 subfamily B member 1 |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 |
