AEXS
MCID: ARM004
MIFTS: 54

Aromatase Excess Syndrome (AEXS)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Aromatase Excess Syndrome

MalaCards integrated aliases for Aromatase Excess Syndrome:

Name: Aromatase Excess Syndrome 57 11 19 42 58 75 73 28 12 5 14 38 71
Aexs 57 11 19 42 58 73
Increased Aromatase Activity 11 42 73 5
Hereditary Prepubertal Gynecomastia 11 19 58
Familial Hyperestrogenism 11 19 58
Familial Gynecomastia Due to Increased Aromatase Activity 42 73
Aromatase Activity, Increased 57 19
Hereditary Gynecomastia 42 73
Gynecomastia, Familial 5 71
Familial Gynecomastia 73

Characteristics:


Inheritance:

Autosomal dominant 58 , Male-limited autosomal dominant vs autosomal recessive or X-linked 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Adolescent,Childhood 58

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:0090122
OMIM® 57 139300
MeSH 43 D006177
ICD10 31 E30.1
ICD10 via Orphanet 32 E30.1
UMLS via Orphanet 72 C1970109
Orphanet 58 ORPHA178345
SNOMED-CT via HPO 69 123982003 237836003 4754008
UMLS 71 C1844375 C1970109

Summaries for Aromatase Excess Syndrome

MedlinePlus Genetics: 42 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 hypertrophy of breast and aromatase deficiency. 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 Signal Transduction and Breast cancer pathway. Affiliated tissues include breast, bone and ovary, and related phenotypes are short stature and gynecomastia

GARD: 19 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.

Orphanet: 58 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.

Disease Ontology: 11 A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has material basis in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene.

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females.

Wikipedia: 75 Aromatase excess syndrome (AES or AEXS) is a rare genetic and endocrine syndrome which is characterized... more...

Related Diseases for Aromatase Excess Syndrome

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

(show top 50) (show all 250)
# Related Disease Score Top Affiliating Genes
1 hypertrophy of breast 30.7 PGR ESR1 CYP19A1
2 aromatase deficiency 30.4 PIRC66 MIR4713HG CYP19A1
3 androgen insensitivity, partial 30.3 SHBG EPPIN CYP19A1 AR
4 androgen insensitivity syndrome 30.2 SHBG EPPIN AR
5 hyperprolactinemia 30.1 SHBG POMC IGF1 GNRH1
6 oligospermia 30.1 GNRH1 EPPIN AR
7 hypospadias 30.1 ESR2 ESR1 AR
8 gynecomastia 30.0 SHBG POMC PGR LEP GNRH1 ESR2
9 hypopituitarism 30.0 SHBG POMC LEP IGF1 GNRH1
10 estrogen excess 29.8 SHBG PGR GNRH1 ESR2 ESR1 CYP19A1
11 hypogonadism 29.8 SHBG POMC LEP IGF1 GNRH1 CYP19A1
12 polycystic ovary syndrome 29.5 SHBG POMC LEP IGF1 GNRH1 CYP19A1
13 infertility 29.3 SHBG PGR LEP GNRH1 ESR2 ESR1
14 cryptorchidism, unilateral or bilateral 29.1 SHBG POMC IGF1 GNRH1 ESR2 ESR1
15 prostate adenoid cystic carcinoma 10.4 POMC AR
16 prostatic acinar adenocarcinoma 10.4 AR AMACR
17 uterine sarcoma 10.4 ESR1 CYP19A1
18 atrophic vulva 10.4 SHBG ESR1
19 rectum carcinoma in situ 10.4 ESR2 ESR1
20 palmoplantar keratoderma, punctate type iii 10.4 POMC LEP
21 functionless pituitary adenoma 10.4 POMC IGF1
22 nonmucinous bronchioloalveolar adenocarcinoma 10.4 ESR2 ESR1
23 prolactin producing pituitary tumor 10.3 POMC IGF1
24 acidophil adenoma 10.3 POMC IGF1
25 alopecia, androgenetic, 1 10.3 SHBG CYP19A1 AR
26 prostate leiomyoma 10.3 GNRH1 AR
27 adenosquamous breast carcinoma 10.3 PGR AR
28 subserous uterine fibroid 10.3 PGR CYP19A1
29 nipple carcinoma 10.3 PGR ESR1
30 bartholin's gland adenoma 10.3 PGR ESR1
31 uterine corpus adenosarcoma 10.3 PGR ESR1
32 complete androgen insensitivity syndrome 10.3 SHBG CYP19A1 AR
33 breast mucinous cystadenocarcinoma 10.3 PGR ESR1
34 corpus luteum cyst 10.3 GNRH1 CGB5
35 bartholin's gland benign neoplasm 10.3 PGR ESR1
36 breast fibroadenosis 10.3 PGR ESR1
37 vestibular gland benign neoplasm 10.3 PGR ESR1
38 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
39 luteoma 10.3 SHBG EPPIN CYP19A1
40 vaginal adenoma 10.3 ESR2 CYP19A1
41 pituitary infarct 10.3 POMC IGF1
42 bulbospinal polio 10.3 PGR ESR1
43 spinal polio 10.3 PGR ESR1
44 glycogen-rich clear cell breast carcinoma 10.3 PGR ESR1
45 adult cystic nephroma 10.3 PGR ESR1
46 vaginitis 10.3 ESR2 ESR1 AR
47 breast cystic hypersecretory carcinoma 10.3 PGR ESR1
48 vagina leiomyosarcoma 10.3 PGR ESR1
49 vulvar benign neoplasm 10.3 PGR ESR1
50 breast squamous cell carcinoma 10.3 PGR ESR1

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



Diseases related to Aromatase Excess Syndrome

Symptoms & Phenotypes for Aromatase Excess Syndrome

Human phenotypes related to Aromatase Excess Syndrome:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 30 HP:0004322
2 gynecomastia 30 HP:0000771
3 accelerated skeletal maturation 30 HP:0005616

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Thorax:
gynecomastia

Clinical features from OMIM®:

139300 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Aromatase Excess Syndrome:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.37 ADIPOQ AMACR AR CGB5 CGNL1 CYP19A1
2 growth/size/body region MP:0005378 10.29 ADIPOQ AMACR AR CGB5 CYP19A1 DMXL2
3 neoplasm MP:0002006 10.27 ADIPOQ AR DMXL2 ESR1 ESR2 GNRH1
4 endocrine/exocrine gland MP:0005379 10.27 ADIPOQ AR CGB5 CYP19A1 DMXL2 EPPIN
5 renal/urinary system MP:0005367 10.25 ADIPOQ AR CYP19A1 EPPIN ESR1 ESR2
6 liver/biliary system MP:0005370 10.22 ADIPOQ AMACR AR CYP19A1 ESR1 ESR2
7 normal MP:0002873 10.21 AR CYP19A1 DMXL2 ESR1 ESR2 GNRH1
8 adipose tissue MP:0005375 10.21 ADIPOQ AMACR AR CYP19A1 DMXL2 ESR1
9 muscle MP:0005369 10.19 ADIPOQ AR CYP19A1 ESR1 ESR2 IGF1
10 cellular MP:0005384 10.18 ADIPOQ AR CGB5 CYP19A1 ESR1 ESR2
11 cardiovascular system MP:0005385 10.15 ADIPOQ AR CYP19A1 DMXL2 EPPIN ESR1
12 immune system MP:0005387 10.1 ADIPOQ AR CYP19A1 DMXL2 EPPIN ESR1
13 digestive/alimentary MP:0005381 10.03 AR CYP19A1 DMXL2 EPPIN ESR1 ESR2
14 reproductive system MP:0005389 10.03 AR CGB5 CGNL1 CYP19A1 DMXL2 EPPIN
15 skeleton MP:0005390 9.85 ADIPOQ AR CYP19A1 DMXL2 ESR1 ESR2
16 hematopoietic system MP:0005397 9.73 ADIPOQ AR CYP19A1 EPPIN ESR1 ESR2
17 integument MP:0010771 9.4 ADIPOQ AR CYP19A1 EPPIN ESR1 ESR2

Drugs & Therapeutics for Aromatase Excess Syndrome

Search Clinical Trials, 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 Aromatase Excess Syndrome 28 CYP19A1

Anatomical Context for Aromatase Excess Syndrome

Organs/tissues related to Aromatase Excess Syndrome:

MalaCards : Breast, Bone, Ovary, Brain, Fetal Brain, Prostate, Pituitary

Publications for Aromatase Excess Syndrome

Articles related to Aromatase Excess Syndrome:

(show top 50) (show all 206)
# Title Authors PMID Year
1
A potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome. 62 57 5
15811932 2005
2
Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene. 57 5
12736278 2003
3
Dominant transmission of prepubertal gynecomastia due to serum estrone excess: hormonal, biochemical, and genetic analysis in a large kindred. 62 57
15483104 2005
4
The aromatase excess syndrome is associated with feminization of both sexes and autosomal dominant transmission of aberrant P450 aromatase gene transcription. 62 57
9543166 1998
5
Familial gynecomastia with increased extraglandular aromatization of plasma carbon19-steroids. 62 57
3924954 1985
6
Familial gynecomastia without hypogonadism: a report of three cases in one family. 62 57
13998571 1962
7
Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants. 5
33750429 2021
8
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD). 5
30668521 2019
9
AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3). 5
28624954 2017
10
Fertility after high-dose testosterone and intracytoplasmic sperm injection in a patient with androgen insensitivity syndrome with a previously unreported androgen receptor mutation. 5
23808476 2014
11
The A645D mutation in the hinge region of the human androgen receptor (AR) gene modulates AR activity, depending on the context of the polymorphic glutamine and glycine repeats. 5
16804045 2006
12
The androgen receptor ligand-binding domain stabilizes DNA binding in living cells. 5
15109605 2004
13
Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor. 5
15001585 2004
14
Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment. 5
14715828 2004
15
Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene. 5
12466340 2002
16
Aromatase p450 expression in a feminizing adrenal adenoma presenting as isosexual precocious puberty. 57
11158024 2001
17
Novel point mutation in the splice donor site of exon-intron junction 6 of the androgen receptor gene in a patient with partial androgen insensitivity syndrome. 5
10999818 2000
18
Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. 5
10566648 1999
19
Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. 5
10543676 1999
20
Expression of two functionally different androgen receptors in a patient with androgen insensitivity. 5
10485299 1999
21
Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation. 5
9851768 1998
22
Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency. 5
9718379 1998
23
Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor. 5
9543136 1998
24
Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation. 5
9345099 1997
25
Effect of testosterone and estradiol in a man with aromatase deficiency. 5
9211678 1997
26
Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. 5
9177373 1997
27
A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation. 5
8823308 1996
28
Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. 5
8824883 1996
29
Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. 5
8530621 1995
30
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. 5
7581399 1995
31
Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance. 5
8040309 1994
32
Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. 5
8265607 1993
33
A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome. 5
8325932 1993
34
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. 5
8096390 1993
35
Mutations of the androgen receptor gene identified in perineal hypospadias. 5
8097257 1993
36
Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes. 5
8446106 1993
37
A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. 5
1303262 1992
38
Genetic studies to characterize the origin of the mutation in placental aromatase deficiency. 5
1496995 1992
39
Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome. 5
1598912 1992
40
Familial adrenal feminization probably due to increased steroid aromatization. 57
1478630 1992
41
Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy. 5
2010552 1991
42
A new cause of female pseudohermaphroditism: placental aromatase deficiency. 5
1825497 1991
43
Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high dose androgen therapy. 5
2918059 1989
44
Cloning of a complete cDNA encoding human aromatase: immunochemical identification and sequence analysis. 5
2973313 1988
45
Massive extranglandular aromatization of plasma androstenedione resulting in feminization of a prepubertal boy. 57
874104 1977
46
Hereditary gynaecomastia. 57
13762869 1960
47
Local aromatase excess with recruitment of unusual promoters of CYP19A1 gene in prepubertal patients with gynecomastia. 62
35667691 2022
48
Congenital disorders of estrogen biosynthesis and action. 62
34538723 2022
49
The role of fat distribution and inflammation in the origin of endometrial cancer, study protocol of the ENDOCRINE study. 62
36301824 2022
50
Crown-Like Structures in Breast Adipose Tissue: Early Evidence and Current Issues in Breast Cancer. 62
34066392 2021

Variations for Aromatase Excess Syndrome

ClinVar genetic disease variations for Aromatase Excess Syndrome:

5 (show top 50) (show all 162)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AR NM_000044.6(AR):c.2222C>G (p.Ser741Cys) SNV Pathogenic
9860 rs137852601 GRCh37: X:66937368-66937368
GRCh38: X:67717526-67717526
2 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr) SNV Pathogenic
17816 rs78310315 GRCh37: 15:51503207-51503207
GRCh38: 15:51211010-51211010
3 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.743+2T>C SNV Pathogenic
17817 rs786205107 GRCh37: 15:51510736-51510736
GRCh38: 15:51218539-51218539
4 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys) SNV Pathogenic
17818 rs121434536 GRCh37: 15:51504657-51504657
GRCh38: 15:51212460-51212460
5 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.1224del (p.Lys409fs) DEL Pathogenic
17819 rs786205108 GRCh37: 15:51504556-51504556
GRCh38: 15:51212359-51212359
6 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.296+1G>A SNV Pathogenic
17820 rs786205109 GRCh37: 15:51529055-51529055
GRCh38: 15:51236858-51236858
7 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln) SNV Pathogenic
17821 rs80051519 GRCh37: 15:51504686-51504686
GRCh38: 15:51212489-51212489
8 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.629-3C>A SNV Pathogenic
17823 rs786205110 GRCh37: 15:51510855-51510855
GRCh38: 15:51218658-51218658
9 CYP19A1 CYP19A1, INV, CGNL1 PROMOTER VAR Pathogenic
17824 GRCh37:
GRCh38:
10 CYP19A1 CYP19A1, INV, TMOD3 PROMOTER VAR Pathogenic
17825 GRCh37:
GRCh38:
11 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys) SNV Pathogenic
17826 rs121434538 GRCh37: 15:51514546-51514546
GRCh38: 15:51222349-51222349
12 CYP19A1 CYP19A1, CYP19A1/TRPM7 FUSION VAR Pathogenic
17827 GRCh37:
GRCh38:
13 AR NM_000044.6(AR):c.2449+5G>T SNV Pathogenic
9851 rs1602278831 GRCh37: X:66941810-66941810
GRCh38: X:67721968-67721968
14 AR NM_000044.6(AR):c.2423T>C (p.Met808Thr) SNV Pathogenic
9847 rs137852592 GRCh37: X:66941779-66941779
GRCh38: X:67721937-67721937
15 AR NM_000044.6(AR):c.521T>G (p.Leu174Ter) SNV Pathogenic
9845 rs137852590 GRCh37: X:66765509-66765509
GRCh38: X:67545667-67545667
16 AR NM_000044.6(AR):c.1769-11T>A SNV Pathogenic
9844 GRCh37: X:66905841-66905841
GRCh38: X:67685999-67685999
17 AR NM_000044.6(AR):c.4G>A (p.Glu2Lys) SNV Pathogenic
9841 rs104894742 GRCh37: X:66764992-66764992
GRCh38: X:67545150-67545150
18 AR NM_000044.6(AR):c.2599G>T (p.Val867Leu) SNV Pathogenic
9822 rs137852564 GRCh37: X:66942818-66942818
GRCh38: X:67722976-67722976
19 AR NM_000044.6(AR):c.2291A>G (p.Tyr764Cys) SNV Pathogenic
9810 rs137852567 GRCh37: X:66937437-66937437
GRCh38: X:67717595-67717595
20 AR NM_000044.6(AR):c.2521C>T (p.Arg841Cys) SNV Pathogenic
9830 rs137852577 GRCh37: X:66942740-66942740
GRCh38: X:67722898-67722898
21 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs) DUP Pathogenic
653853 rs769461019 GRCh37: 15:51504721-51504722
GRCh38: 15:51212524-51212525
22 AR NM_000044.6(AR):c.1789G>A (p.Ala597Thr) SNV Pathogenic
9813 rs137852569 GRCh37: X:66905872-66905872
GRCh38: X:67686030-67686030
23 AR NM_000044.6(AR):c.1823G>A (p.Arg608Gln) SNV Pathogenic
9820 rs137852573 GRCh37: X:66905906-66905906
GRCh38: X:67686064-67686064
24 AR NM_000044.6(AR):c.2522G>A (p.Arg841His) SNV Pathogenic
9829 rs9332969 GRCh37: X:66942741-66942741
GRCh38: X:67722899-67722899
25 AR NM_000044.6(AR):c.2395C>G (p.Gln799Glu) SNV Pathogenic
9846 rs137852591 GRCh37: X:66941751-66941751
GRCh38: X:67721909-67721909
26 AR NM_000044.6(AR):c.2231G>T (p.Gly744Val) SNV Pathogenic
9857 rs137852600 GRCh37: X:66937377-66937377
GRCh38: X:67717535-67717535
27 AR NM_000044.6(AR):c.2599G>A (p.Val867Met) SNV Pathogenic
9806 rs137852564 GRCh37: X:66942818-66942818
GRCh38: X:67722976-67722976
28 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter) SNV Pathogenic
1212857 GRCh37: 15:51520084-51520084
GRCh38: 15:51227887-51227887
29 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.469del (p.Val158fs) DEL Pathogenic
17822 GRCh37: 15:51514705-51514705
GRCh38: 15:51222508-51222508
30 AR NM_000044.6(AR):c.1937C>A (p.Ala646Asp) SNV Pathogenic
9861 rs1800053 GRCh37: X:66931295-66931295
GRCh38: X:67711453-67711453
31 AR NM_000044.6(AR):c.2567G>A (p.Arg856His) SNV Pathogenic
9823 rs9332971 GRCh37: X:66942786-66942786
GRCh38: X:67722944-67722944
32 AR NM_000044.6(AR):c.1174C>T (p.Pro392Ser) SNV Pathogenic
Benign
216890 rs201934623 GRCh37: X:66766162-66766162
GRCh38: X:67546320-67546320
33 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) SNV Pathogenic/Likely Pathogenic
17815 rs121434534 GRCh37: 15:51503214-51503214
GRCh38: 15:51211017-51211017
34 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.297-1G>C SNV Likely Pathogenic
859794 rs768157788 GRCh37: 15:51520131-51520131
GRCh38: 15:51227934-51227934
35 AR NM_000044.6(AR):c.2056G>C (p.Val686Leu) SNV Likely Pathogenic
1699192 GRCh37: X:66931414-66931414
GRCh38: X:67711572-67711572
36 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.1263+1G>T SNV Likely Pathogenic
930859 rs2031075939 GRCh37: 15:51504516-51504516
GRCh38: 15:51212319-51212319
37 AR NM_000044.6(AR):c.2047C>T (p.Pro683Ser) SNV Likely Pathogenic
838128 rs2076094025 GRCh37: X:66931405-66931405
GRCh38: X:67711563-67711563
38 AR NM_000044.6(AR):c.1768+2T>C SNV Likely Pathogenic
448902 rs1555982894 GRCh37: X:66863251-66863251
GRCh38: X:67643409-67643409
39 LOC109504725, AR NM_000044.6(AR):c.173A>T (p.Gln58Leu) SNV Uncertain Significance
402390 rs200185441 GRCh37: X:66765161-66765161
GRCh38: X:67545319-67545319
40 CYP19A1 NM_000103.4(CYP19A1):c.-39+1G>A SNV Uncertain Significance
631737 rs956997586 GRCh37: 15:51630691-51630691
GRCh38: 15:51338494-51338494
41 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.*2126G>A SNV Uncertain Significance
884245 rs977456146 GRCh37: 15:51500879-51500879
GRCh38: 15:51208682-51208682
42 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.*2086G>A SNV Uncertain Significance
884246 rs989880661 GRCh37: 15:51500919-51500919
GRCh38: 15:51208722-51208722
43 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.*2067T>G SNV Uncertain Significance
884247 rs1042269504 GRCh37: 15:51500938-51500938
GRCh38: 15:51208741-51208741
44 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.*240C>A SNV Uncertain Significance
884314 rs1379933476 GRCh37: 15:51502765-51502765
GRCh38: 15:51210568-51210568
45 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.*125T>C SNV Uncertain Significance
884315 rs781742620 GRCh37: 15:51502880-51502880
GRCh38: 15:51210683-51210683
46 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.*78G>T SNV Uncertain Significance
884316 rs28757206 GRCh37: 15:51502927-51502927
GRCh38: 15:51210730-51210730
47 CYP19A1 NM_000103.4(CYP19A1):c.-39+14646C>T SNV Uncertain Significance
884372 rs931758970 GRCh37: 15:51616046-51616046
GRCh38: 15:51323849-51323849
48 CYP19A1 NM_000103.4(CYP19A1):c.-39+14640A>G SNV Uncertain Significance
884373 rs376711291 GRCh37: 15:51616052-51616052
GRCh38: 15:51323855-51323855
49 LOC110386947, CYP19A1 NM_000103.4(CYP19A1):c.-118G>A SNV Uncertain Significance
884374 rs1053290768 GRCh37: 15:51630771-51630771
GRCh38: 15:51338574-51338574
50 MIR4713HG, CYP19A1, PIRC66 NM_000103.4(CYP19A1):c.*1889A>T SNV Uncertain Significance
886275 rs762427390 GRCh37: 15:51501116-51501116
GRCh38: 15:51208919-51208919

Copy number variations for Aromatase Excess Syndrome from CNVD:

6
# CNVD ID Chromosome 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:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.28 ADIPOQ AR CGB5 ESR1 ESR2 GNRH1
2 ovulation from ovarian follicle GO:0001542 9.73 PGR LEP
3 prostate gland growth GO:0060736 9.71 CYP19A1 AR
4 cell-cell signaling GO:0007267 9.7 POMC PGR GNRH1 ESR2 CGB5 AR
5 bone mineralization involved in bone maturation GO:0035630 9.67 LEP IGF1
6 intracellular estrogen receptor signaling pathway GO:0030520 9.63 ESR2 ESR1 AR
7 tertiary branching involved in mammary gland duct morphogenesis GO:0060748 9.56 PGR AR
8 intracellular steroid hormone receptor signaling pathway GO:0030518 9.23 PGR ESR2 ESR1 AR

Molecular functions related to Aromatase Excess Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator binding GO:0001223 9.93 PGR ESR1 AR
2 lipid binding GO:0008289 9.83 SHBG PGR ESR2 ESR1 AR
3 nuclear receptor activity GO:0004879 9.76 AR ESR1 ESR2 PGR
4 estrogen response element binding GO:0034056 9.71 ESR2 ESR1
5 hormone activity GO:0005179 9.7 POMC LEP IGF1 GNRH1 CGB5 ADIPOQ
6 androgen binding GO:0005497 9.67 SHBG AR
7 nuclear steroid receptor activity GO:0003707 9.65 PGR ESR2 ESR1
8 nuclear estrogen receptor activity GO:0030284 9.62 ESR2 ESR1
9 steroid binding GO:0005496 9.32 SHBG PGR ESR2 ESR1 AR

Sources for Aromatase Excess Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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