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AEXS
MCID: ARM004
MIFTS: 40

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 57 12 76 53 25 59 75 37 13 15 40 73
Aexs 57 12 53 25 59 75
Hereditary Prepubertal Gynecomastia 12 53 59
Increased Aromatase Activity 12 25 75
Familial Hyperestrogenism 12 53 59
Familial Gynecomastia, Due to Increased Aromatase Activity 29 6
Familial Gynecomastia Due to Increased Aromatase Activity 25 75
Aromatase Activity, Increased 57 53
Hereditary Gynecomastia 25 75
Gynecomastia, Familial 73
Familial Gynecomastia 75

Characteristics:

Orphanet epidemiological data:

59
aromatase excess syndrome
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
male-limited autosomal dominant vs. autosomal recessive or x-linked


HPO:

32
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: 33 34
Orphanet: 59  
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

OMIM 57 139300
Disease Ontology 12 DOID:0090122
ICD10 33 E30.1
Orphanet 59 ORPHA178345
ICD10 via Orphanet 34 E30.1
UMLS via Orphanet 74 C1970109
MeSH 44 D006177
KEGG 37 H00794
Sources

Summaries for Aromatase Excess Syndrome

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Genetics Home Reference : 25 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. 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 Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and prostate, 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 : 53 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 : 57 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 : 75 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 : 76 Aromatase excess syndrome (AES or AEXS) is a rare genetic and endocrine syndrome which is characterized... more...

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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 20)
# Related Disease Score Top Affiliating Genes
1 gynecomastia 30.1 POMC CYP19A1
2 estrogen excess 10.1 CYP19A1 CGNL1
3 male reproductive organ benign neoplasm 10.1 POMC CYP19A1
4 sex differentiation disease 10.0 POMC CYP19A1
5 sex cord-gonadal stromal tumor 10.0 POMC CYP19A1
6 primary pigmented nodular adrenocortical disease 10.0 POMC CYP19A1
7 hyperandrogenism 10.0 POMC CYP19A1
8 lipoid congenital adrenal hyperplasia 10.0 POMC CYP19A1
9 reproductive system disease 10.0 CYP19A1 AMACR
10 gonadal disease 10.0 POMC CYP19A1
11 prostate disease 10.0 CYP19A1 AMACR
12 hypogonadism 9.9
13 epithelial basement membrane dystrophy 9.9 GLDN CYP19A1
14 adrenocortical carcinoma, hereditary 9.9 POMC CYP19A1
15 breast disease 9.8 POMC CYP19A1
16 hepatocellular carcinoma 9.8
17 hyperprolactinemia 9.8
18 infant gynecomastia 9.8
19 fibrolamellar carcinoma 9.8
20 infertility 9.8

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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Symptoms via clinical synopsis from OMIM:

57
Thorax:
gynecomastia


Clinical features from OMIM:

139300

Human phenotypes related to Aromatase Excess Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 gynecomastia 32 HP:0000771
3 accelerated skeletal maturation 32 HP:0005616

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

26
# 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:

46
# 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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
3 Steroid Synthesis Inhibitors Phase 4
4 Hormones Phase 4,Not Applicable
5 Estrogen Antagonists Phase 4
6 Hormone Antagonists Phase 4
7 Estrogens Phase 4
8 Aromatase Inhibitors Phase 4
9 Estrogen Receptor Antagonists Phase 4
10 Liver Extracts Phase 4
11
Polyestradiol phosphate Approved Not Applicable 28014-46-2
12
Estradiol Approved, Investigational, Vet_approved Not Applicable 50-28-2 5757
13 Estradiol valerate Approved, Investigational, Vet_approved Not Applicable 979-32-8
14 Estradiol 3-benzoate Not Applicable
15 Mitogens Not Applicable
16 Estradiol 17 beta-cypionate Not Applicable
17 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 29 CYP19A1
Sources

Anatomical Context for Aromatase Excess Syndrome

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MalaCards organs/tissues related to Aromatase Excess Syndrome:

41
Bone, Breast, Prostate
Sources

Publications for Aromatase Excess Syndrome

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Articles related to Aromatase Excess Syndrome:

(show all 11)
# Title Authors Year
1
Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2. ( 30530883 )
2018
2
Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis. ( 25264451 )
2014
3
Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia. ( 24716396 )
2014
4
Aromatase excess syndrome in a family with upstream deletion of CYP19A1. ( 24102311 )
2013
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
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:

37
# 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 66
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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