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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 |
|---|---|---|---|
| 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 | |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 | |
| 5447 | POR | cytochrome p450 oxidoreductase | |
| 5972 | REN | renin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003351 | Decreased circulating renin level |
| HP:0003394 | Muscle spasm |
| HP:0004319 | Decreased circulating aldosterone level |
| HP:0008163 | Decreased circulating cortisol level |
| HP:0008187 | Absence of secondary sex characteristics |
| HP:0008197 | Absence of pubertal development |
| HP:0008207 | Primary adrenal insufficiency |
| HP:0008232 | Elevated circulating follicle stimulating hormone level |
| HP:0008258 | Congenital adrenal hyperplasia |
| HP:0008689 | Bilateral cryptorchidism |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 1586 | CYP17A1 | cytochrome P450 family 17 subfamily A member 1 |
| 1584 | CYP11B1 | cytochrome P450 family 11 subfamily B member 1 |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 |
| 3284 | HSD3B2 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
