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AEXS
MCID: ARM004
MIFTS: 39

Aromatase Excess Syndrome (AEXS)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Aromatase Excess Syndrome

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MalaCards integrated aliases for Aromatase Excess Syndrome:

Name: Aromatase Excess Syndrome 58 12 77 54 26 60 76 38 13 15 41 74
Aexs 58 12 54 26 60 76
Hereditary Prepubertal Gynecomastia 12 54 60
Increased Aromatase Activity 12 26 76
Familial Hyperestrogenism 12 54 60
Familial Gynecomastia, Due to Increased Aromatase Activity 30 6
Familial Gynecomastia Due to Increased Aromatase Activity 26 76
Aromatase Activity, Increased 58 54
Hereditary Gynecomastia 26 76
Gynecomastia, Familial 74
Familial Gynecomastia 76

Characteristics:

Orphanet epidemiological data:

60
aromatase excess syndrome
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
male-limited autosomal dominant vs. autosomal recessive or x-linked


HPO:

33
aromatase excess syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0090122
OMIM 58 139300
KEGG 38 H00794
MeSH 45 D006177
ICD10 34 E30.1
ICD10 via Orphanet 35 E30.1
UMLS via Orphanet 75 C1970109
Orphanet 60 ORPHA178345
Sources

Summaries for Aromatase Excess Syndrome

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Genetics Home Reference : 26 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 estrogen excess and gynecomastia. 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 Metabolism of steroid hormones. The drugs Letrozole and Estrogen Receptor Antagonists have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and liver, and related phenotypes are short stature and gynecomastia

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.

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 178345Disease definitionAromatase 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.Visit the Orphanet disease page for more resources.

OMIM : 58 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 : 76 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.

Wikipedia : 77 Aromatase excess syndrome (AES or AEXS) is a rare genetic and endocrine syndrome which is characterized... more...

Sources

Related Diseases for Aromatase Excess Syndrome

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 estrogen excess 30.2 CGNL1 CYP19A1
2 gynecomastia 30.1 CYP19A1 POMC
3 male reproductive organ benign neoplasm 10.1 CYP19A1 POMC
4 epithelial basement membrane dystrophy 10.1 CYP19A1 GLDN
5 sex cord-gonadal stromal tumor 10.1 CYP19A1 POMC
6 infant gynecomastia 10.0
7 primary pigmented nodular adrenocortical disease 10.0 CYP19A1 POMC
8 hyperandrogenism 10.0 CYP19A1 POMC
9 lipoid congenital adrenal hyperplasia 10.0 CYP19A1 POMC
10 reproductive system disease 10.0 AMACR CYP19A1
11 gonadal disease 10.0 CYP19A1 POMC
12 prostate disease 10.0 AMACR CYP19A1
13 hypogonadism 9.9
14 hypogonadotropism 9.9
15 neurofibromatosis, type iv, of riccardi 9.9
16 autosomal dominant disease 9.9
17 adrenocortical carcinoma, hereditary 9.9 CYP19A1 POMC
18 hepatocellular carcinoma 9.8
19 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.8
20 hyperprolactinemia 9.8
21 fibrolamellar carcinoma 9.8
22 infertility 9.8
23 breast disease 9.7 CYP19A1 POMC

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



Diseases related to Aromatase Excess Syndrome
Sources

Symptoms & Phenotypes for Aromatase Excess Syndrome

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Human phenotypes related to Aromatase Excess Syndrome:

33
# Description HPO Frequency HPO Source Accession
1 short stature 33 HP:0004322
2 gynecomastia 33 HP:0000771
3 accelerated skeletal maturation 33 HP:0005616

Symptoms via clinical synopsis from OMIM:

58
Thorax:
gynecomastia

Clinical features from OMIM:

139300

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis GR00363-A 9.1 AMACR CGNL1 CYP19A1 DMXL2 POMC TLN2

MGI Mouse Phenotypes related to Aromatase Excess Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.26 AMACR CYP19A1 DMXL2 POMC
2 behavior/neurological MP:0005386 9.02 CYP19A1 DMXL2 GLDN POMC TLN2
Sources

Drugs & Therapeutics for Aromatase Excess Syndrome

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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 Estrogen Receptor Antagonists Phase 4
3 Hormone Antagonists Phase 4
4 Steroid Synthesis Inhibitors Phase 4
5 Estrogens Phase 4
6 Liver Extracts Phase 4
7 Hormones Phase 4,Not Applicable
8 Aromatase Inhibitors Phase 4
9 Estrogen Antagonists Phase 4
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
11
Estradiol Approved, Investigational, Vet_approved Not Applicable 50-28-2 5757
12
Polyestradiol phosphate Approved Not Applicable 28014-46-2
13 Estradiol 3-benzoate Not Applicable
14 Estradiol 17 beta-cypionate Not Applicable
15 Mitogens Not Applicable
16 Follicle Stimulating Hormone Not Applicable

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 Not Applicable

Search NIH Clinical Center for Aromatase Excess Syndrome

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Genetic Tests for Aromatase Excess Syndrome

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Genetic tests related to Aromatase Excess Syndrome:

# Genetic test Affiliating Genes
1 Familial Gynecomastia, Due to Increased Aromatase Activity 30 CYP19A1
Sources

Anatomical Context for Aromatase Excess Syndrome

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MalaCards organs/tissues related to Aromatase Excess Syndrome:

42
Bone, Breast, Liver, Prostate
Sources

Publications for Aromatase Excess Syndrome

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Articles related to Aromatase Excess Syndrome:

(show all 12)
# Title Authors Year
1
Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2. ( 30530883 )
2019
2
Aromatase excess syndrome in a family with upstream deletion of CYP19A1. ( 24102311 )
2014
3
Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia. ( 24716396 )
2014
4
Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis. ( 25264451 )
2014
5
Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression. ( 24064691 )
2013
6
Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis. ( 24497716 )
2013
7
Molecular bases and phenotypic determinants of aromatase excess syndrome. ( 22319526 )
2012
8
Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants. ( 21470988 )
2011
9
A potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome. ( 15811932 )
2005
10
Prepubertal gynaecomastia caused by medication or the aromatase excess syndrome. ( 15579195 )
2004
11
Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene. ( 12736278 )
2003
12
The aromatase excess syndrome is associated with feminization of both sexes and autosomal dominant transmission of aberrant P450 aromatase gene transcription. ( 9543166 )
1998
Sources

Variations for Aromatase Excess Syndrome

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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
Sources

Expression for Aromatase Excess Syndrome

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

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Pathways related to Aromatase Excess Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

Pathways related to Aromatase Excess Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism of steroid hormones 67
Show member pathways
 10.57 CYP19A1 POMC
Sources

GO Terms for Aromatase Excess Syndrome

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Sources

Sources for Aromatase Excess Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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