Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
aromatase excess syndrome
Summary
- Synonym
-
- AEXS
- familial hyperestrogenism
- hereditary prepubertal gynecomastia
- increased aromatase activity
- Definition
- A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene.
- Super Class
- reproductive system disease
External Links
- Disease Ontology
- DOID:0090122
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1584 | CYP11B1 | cytochrome P450 family 11 subfamily B member 1 | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000771 | Gynecomastia |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0004322 | Short stature |
