Aromatase excess syndrome

Preferred Label : Aromatase excess syndrome;

Symbol : AEXS;

CISMeF acronym : AEXS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aromatase activity, increased;

Included titles and symbols : Gynecomastia, familial, due to increased aromatase activity; Gynecomastia, hereditary;

Description : Aromatase excess syndrome is an autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females (Tiulpakov et al., 2005).;

Inheritance : Male-limited autosomal dominant vs. autosomal recessive or X-linked;

Prefixed ID : #139300;

Details

Origin ID

139300;

UMLS CUI

C1970109;

Automatic exact mappings (from CISMeF team)
- Aromatase excess syndrome [ICD-11 More detail]
- Familial gynecomastia, due to increased aromatase activity [MeSH Supplementary Concept]
- aromatase deficiency [MeSH Supplementary Concept]
- familial gynecomastia, due to increased aromatase activity [MeSH concept]
CISMeF manual mappings
- Aromatase excess syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aromatase excess syndrome [ORDO Disease]
- aromatase excess syndrome [DO Concept]
DO Cross reference
- aromatase excess syndrome [DO Concept]
Genes related to phenotype
- Cytochrome p450, family 19, subfamily a, polypeptide 1 [OMIM gene]
HPO term(s)
- Accelerated skeletal maturation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Gynecomastia [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Aromatase excess syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aromatase excess syndrome [ORDO Disease]
- Aromatase excess syndrome (disorder) [SNOMED CT concept]
- Familial gynecomastia, due to increased aromatase activity [MeSH Supplementary Concept]
- aromatase excess syndrome [DO Concept]
- familial gynecomastia, due to increased aromatase activity [MeSH concept]

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