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 |
|---|---|---|---|
| 7355 | SLC35A2 | solute carrier family 35 member A2 | |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q | |
| 9563 | H6PD | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | |
| 10555 | AGPAT2 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | |
| 51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P | |
| 55997 | CFC1 | cryptic, EGF-CFC family member 1 |
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 |
