Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0000822 | Hypertension |
| HP:0000823 | Delayed puberty |
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0000858 | Irregular menstruation |
| HP:0001508 | Failure to thrive |
| HP:0002221 | Absent axillary hair |
| HP:0002555 | Absent pubic hair |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002900 | Hypokalemia |
| HP:0003251 | Male infertility |
| 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 |
