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aromatase excess syndrome

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.
Uniprot Description An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females.
Disease Ontology Description A reproductive system disease characterized by autosomal dominant inheritance of increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females that has_material_basis_in fusion of the CYP19A1 gene with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene.
Mondo Term and Equivalent IDs
MONDO:0007690:  aromatase excess syndrome
GARD:0012494: 
MESH:C000591739: 
Orphanet:178345: 
SCTID:709075008: 
UMLS:C1970109: