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 1 - 10 of 16 in total
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
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