AEXS
MCID: ARM004
MIFTS: 38

Aromatase Excess Syndrome (AEXS) malady

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

Aliases & Classifications for Aromatase Excess Syndrome

Aliases & Descriptions for Aromatase Excess Syndrome:

Name: Aromatase Excess Syndrome 54 50 25 56 66 13 69
Aexs 50 25 56 66
Familial Gynecomastia Due to Increased Aromatase Activity 25 66 29
Hereditary Prepubertal Gynecomastia 50 56
Increased Aromatase Activity 25 66
Familial Hyperestrogenism 50 56
Hereditary Gynecomastia 25 66
Aromatase Activity, Increased 50
Gynecomastia, Familial 69
Familial Gynecomastia 66

Characteristics:

Orphanet epidemiological data:

56
aromatase excess syndrome
Inheritance: Autosomal dominant;

HPO:

32
aromatase excess syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 139300
Orphanet 56 ORPHA178345
ICD10 via Orphanet 34 E30.1
MedGen 40 C1841762
MeSH 42 D006177

Summaries for Aromatase Excess Syndrome

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 acute thyroiditis and ovarian mucinous cystadenocarcinoma, and has symptoms including short stature, abnormality of metabolism/homeostasis and hypogonadism. 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 Peptide hormone metabolism and Metabolism of steroid hormones. The drugs Letrozole and Steroid Synthesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone and breast, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and adipose tissue

OMIM : 54 Aromatase excess syndrome is an autosomal dominant disorder characterized by increased extraglandular aromatization of... (139300) more...

UniProtKB/Swiss-Prot : 66 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 : 71 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:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 acute thyroiditis 10.1 CGNL1 CYP19A1
2 ovarian mucinous cystadenocarcinoma 10.0 CGB5 CYP19A1
3 skin hemangioma 9.9 AMACR CYP19A1
4 jackson-weiss syndrome 9.9 CGB5 POMC
5 sphingolipidosis 9.9 CYP19A1 POMC
6 capillary disease 9.9 CYP19A1 POMC
7 gynecomastia 9.8
8 pelvic muscle wasting 9.8 CYP19A1 POMC
9 spondylolysis 9.8 CYP19A1 POMC
10 avoidant personality disorder 9.7 CYP19A1 POMC
11 neurofibromatosis 9.7
12 marfan syndrome 9.3 AMACR CGB5 CGNL1 CYP19A1 POMC

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 by clinical synopsis from OMIM:

139300

Clinical features from OMIM:

139300

Human phenotypes related to Aromatase Excess Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 hypogonadism 32 HP:0000135
4 gynecomastia 32 HP:0000771
5 accelerated skeletal maturation 32 HP:0005616

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

26
id 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:

44
id 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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
2 Steroid Synthesis Inhibitors Phase 4
3 Hormone Antagonists Phase 4
4 Hormones Phase 4
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
6 Estrogen Antagonists Phase 4
7 Estrogens Phase 4
8 Liver Extracts Phase 4
9 Aromatase Inhibitors Phase 4
10
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757 53477783
11 Estradiol valerate 979-32-8
12 Mitogens
13 Follicle Stimulating Hormone
14 Estradiol 17 beta-cypionate
15 Estradiol 3-benzoate
16 Polyestradiol phosphate

Interventional clinical trials:


id Name Status NCT ID Phase
1 Influence of Aromatase Inhibition on Hepatic- and Cardiac Function in Severe Obese Men Unknown status NCT02097680 Phase 4
2 Study of Mechanisms of Anovulation in Polycystic Ovary Syndrome Completed NCT00492882 Phase 4
3 Aromatase Activity and Ovarian Growth Factors in African-American Versus Caucasian Women Active, not recruiting NCT00334971

Search NIH Clinical Center for Aromatase Excess Syndrome

Genetic Tests for Aromatase Excess Syndrome

Genetic tests related to Aromatase Excess Syndrome:

id Genetic test Affiliating Genes
1 Familial Gynecomastia, Due to Increased Aromatase Activity 29

Anatomical Context for Aromatase Excess Syndrome

MalaCards organs/tissues related to Aromatase Excess Syndrome:

39
Bone, Breast

Publications for Aromatase Excess Syndrome

Articles related to Aromatase Excess Syndrome:

id Title Authors Year
1
Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis. ( 25264451 )
2014
2
Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia. ( 24716396 )
2014
3
Aromatase excess syndrome in a family with upstream deletion of CYP19A1. ( 24102311 )
2013
4
Genomic Basis of Aromatase Excess Syndrome: Recombination- and Replication-Mediated Rearrangements Leading to CYP19A1 Overexpression. ( 24064691 )
2013
5
Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis. ( 24497716 )
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
id 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
id 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

GO Terms for Aromatase Excess Syndrome

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....