aromatase excess syndrome
Information
- Disease name
- aromatase excess syndrome
- Disease ID
- DOID:0090122
- Description
- "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." [url:https\://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome, url:https\://www.omim.org/entry/139300]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:15
- Cross Reference ID (Disease Ontology)
- GARD:12949
- Cross Reference ID (Disease Ontology)
- ICD10CM:E30.1
- Cross Reference ID (Disease Ontology)
- MIM:139300
- Cross Reference ID (Disease Ontology)
- ORDO:178345
- Exact Synonym (Disease Ontology)
- AEXS
- Exact Synonym (Disease Ontology)
- familial hyperestrogenism
- Exact Synonym (Disease Ontology)
- hereditary prepubertal gynecomastia
- Exact Synonym (Disease Ontology)
- increased aromatase activity
- OrphaNumber from OrphaNet (Orphanet)
- 178345