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
Displaying entries 11 - 16 of 16 in total
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
The Human Phenotype Ontology
Displaying all 4 entries
HPO ID HPO Term
HP:0000771 Gynecomastia
HP:0005616 Accelerated skeletal maturation
HP:0000006 Autosomal dominant inheritance
HP:0004322 Short stature
Displaying 1 entry
Gene ID Gene Symbol Description
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024