MCID: ARM004
MIFTS: 41

Aromatase Excess Syndrome

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases

Aliases & Classifications for Aromatase Excess Syndrome

MalaCards integrated aliases for Aromatase Excess Syndrome:

Name: Aromatase Excess Syndrome 53 12 72 49 24 55 71 36 13 69
Aexs 53 12 49 24 55 71
Hereditary Prepubertal Gynecomastia 12 49 55
Increased Aromatase Activity 12 24 71
Familial Hyperestrogenism 12 49 55
Familial Gynecomastia Due to Increased Aromatase Activity 24 71
Aromatase Activity, Increased 53 49
Hereditary Gynecomastia 24 71
Familial Gynecomastia, Due to Increased Aromatase Activity 28
Gynecomastia, Familial 69
Familial Gynecomastia 71

Characteristics:

Orphanet epidemiological data:

55
aromatase excess syndrome
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
male-limited autosomal dominant vs. autosomal recessive or x-linked


HPO:

31
aromatase excess syndrome:
Inheritance autosomal dominant inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 53 139300
Disease Ontology 12 DOID:0090122
ICD10 32 E30.1
Orphanet 55 ORPHA178345
UMLS via Orphanet 70 C1970109
ICD10 via Orphanet 33 E30.1
MeSH 41 D006177
KEGG 36 H00794

Summaries for Aromatase Excess Syndrome

Genetics Home Reference : 24 Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop growing sooner than usual (advanced bone age). As a result males have an early growth spurt, typically during late childhood, with short stature as an adult. Affected females rarely show signs and symptoms of the condition, but they may have increased breast growth (macromastia), irregular menstrual periods, and short stature. The ability to have children (fertility) is usually normal in both males and females with aromatase excess syndrome.

MalaCards based summary : Aromatase Excess Syndrome, also known as aexs, is related to gynecomastia and estrogen excess, and has symptoms including gynecomastia, short stature and accelerated skeletal maturation. An important gene associated with Aromatase Excess Syndrome is CYP19A1 (Cytochrome P450 Family 19 Subfamily A Member 1), and among its related pathways/superpathways are Steroid hormone biosynthesis and Peptide hormone metabolism. The drugs Letrozole and Aromatase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

OMIM : 53 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). (139300)

UniProtKB/Swiss-Prot : 71 Aromatase excess syndrome: An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Precocious puberty.

Disease Ontology : 12 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.

Wikipedia : 72 Aromatase excess syndrome (AES or AEXS), also sometimes referred to as familial hyperestrogenism or... more...

Related Diseases for Aromatase Excess Syndrome

Diseases related to Aromatase Excess Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gynecomastia 29.4 CYP19A1 POMC
2 estrogen excess 10.0 CGNL1 CYP19A1
3 infant gynecomastia 9.9
4 prostate disease 9.8 AMACR CYP19A1
5 neurofibromatosis, type iv, of riccardi 9.8
6 cryptorchidism, unilateral or bilateral 9.7 CGB5 CYP19A1
7 sex differentiation disease 9.7 CYP19A1 POMC
8 female reproductive system disease 9.6 CYP19A1 POMC
9 hyperandrogenism 9.6 CYP19A1 POMC
10 choriocarcinoma 9.6 CGB5 CYP19A1

Graphical network of the top 20 diseases related to Aromatase Excess Syndrome:



Diseases related to Aromatase Excess Syndrome

Symptoms & Phenotypes for Aromatase Excess Syndrome

Symptoms via clinical synopsis from OMIM:

53
Thorax:
gynecomastia


Clinical features from OMIM:

139300

Human phenotypes related to Aromatase Excess Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 gynecomastia 31 HP:0000771
2 short stature 31 HP:0004322
3 accelerated skeletal maturation 31 HP:0005616
4 hypogonadism 31 HP:0000135
5 abnormality of metabolism/homeostasis 31 HP:0001939

GenomeRNAi Phenotypes related to Aromatase Excess Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.17 CGB5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.17 POMC
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.17 CGB5
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.17 CGB5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.17 CGB5 POMC
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.17 CGB5

MGI Mouse Phenotypes related to Aromatase Excess Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.8 AMACR CYP19A1 POMC

Drugs & Therapeutics for Aromatase Excess Syndrome

Drugs for Aromatase Excess Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
2 Aromatase Inhibitors Phase 4
3 Estrogen Antagonists Phase 4
4 Estrogens Phase 4
5 Hormone Antagonists Phase 4
6 Hormones Phase 4
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
8 Liver Extracts Phase 4
9 Steroid Synthesis Inhibitors Phase 4
10
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
11 Estradiol 17 beta-cypionate
12 Estradiol 3-benzoate
13 Estradiol valerate 979-32-8
14 Follicle Stimulating Hormone
15 Mitogens
16 Polyestradiol phosphate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Influence of Aromatase Inhibition on Hepatic- and Cardiac Function in Severe Obese Men Unknown status NCT02097680 Phase 4 Letrozole;Placebo
2 Aromatase Activity and Ovarian Growth Factors in African-American Versus Caucasian Women Unknown status NCT00334971

Search NIH Clinical Center for Aromatase Excess Syndrome

Genetic Tests for Aromatase Excess Syndrome

Genetic tests related to Aromatase Excess Syndrome:

# Genetic test Affiliating Genes
1 Familial Gynecomastia, Due to Increased Aromatase Activity 28 CYP19A1

Anatomical Context for Aromatase Excess Syndrome

MalaCards organs/tissues related to Aromatase Excess Syndrome:

38
Bone, Breast, Liver

Publications for Aromatase Excess Syndrome

Articles related to Aromatase Excess Syndrome:

# Title Authors Year
1
Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia. ( 24716396 )
2014
2
Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis. ( 25264451 )
2014
3
Genomic Basis of Aromatase Excess Syndrome: Recombination- and Replication-Mediated Rearrangements Leading to CYP19A1 Overexpression. ( 24064691 )
2013
4
Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis. ( 24497716 )
2013
5
Aromatase excess syndrome in a family with upstream deletion of CYP19A1. ( 24102311 )
2013
6
Molecular bases and phenotypic determinants of aromatase excess syndrome. ( 22319526 )
2012
7
Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants. ( 21470988 )
2011
8
A potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome. ( 15811932 )
2005
9
Prepubertal gynaecomastia caused by medication or the aromatase excess syndrome. ( 15579195 )
2004
10
The aromatase excess syndrome is associated with feminization of both sexes and autosomal dominant transmission of aberrant P450 aromatase gene transcription. ( 9543166 )
1998

Variations for Aromatase Excess Syndrome

ClinVar genetic disease variations for Aromatase Excess Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP19A1 CYP19A1, INV, CGNL1 PROMOTER undetermined variant Pathogenic
2 CYP19A1 CYP19A1, INV, TMOD3 PROMOTER undetermined variant Pathogenic
3 CYP19A1 CYP19A1, CYP19A1/TRPM7 FUSION undetermined variant Pathogenic

Copy number variations for Aromatase Excess Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 93187 15 49287545 49418087 Deletion CYP19A1 Aromatase excess syndrome
2 93192 15 49421004 49487501 Deletion GLDN Aromatase excess syndrome
3 93201 15 49527230 49702259 Deletion DMXL2 Aromatase excess syndrome

Expression for Aromatase Excess Syndrome

Search GEO for disease gene expression data for Aromatase Excess Syndrome.

Pathways for Aromatase Excess Syndrome

Pathways related to Aromatase Excess Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

GO Terms for Aromatase Excess Syndrome

Biological processes related to Aromatase Excess Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide hormone processing GO:0016486 8.62 CGB5 POMC

Sources for Aromatase Excess Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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