MCID: ARM001
MIFTS: 52

Aromatase Deficiency

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

Aliases & Classifications for Aromatase Deficiency

MalaCards integrated aliases for Aromatase Deficiency:

Name: Aromatase Deficiency 53 72 49 24 55 71 36 28 13 69
Congenital Estrogen Deficiency 49 55
Placental Aromatase Deficiency 24 69
46,xx Disorder of Sex Development Due to Placental Aromatase Deficiency 24
Pseudohermaphroditism, Female, Due to Placental Aromatase Deficiency 53
Pseudohermaphroditism Female Due to Placental Aromatase Deficiency 71
46, Xx Disorders of Sex Development 41
Oestrogen Synthetase Deficiency 24
Estrogen Synthetase Deficiency 24
Arod 71

Characteristics:

Orphanet epidemiological data:

55
aromatase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

HPO:

31
aromatase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613546
Orphanet 55 ORPHA91
MESH via Orphanet 42 C537436
UMLS via Orphanet 70 C0878680 C0853662 C1960539
ICD10 via Orphanet 33 E25.8
KEGG 36 H02020
ICD10 32 Q56.2

Summaries for Aromatase Deficiency

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 91Disease definitionAromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.EpidemiologyFewer than 20 cases have been reported to date.Clinical descriptionAffected female newborns present with different degrees of ambiguous genitalia, virilization and non-palpable gonads, in one case female genitalia were present. Female internal genitalia differentiation is unaffected. Ovarian cystic follicles may appear in childhood, even at birth, or adolescence when patients manifest primary amenorrhea and no pubertal growth spurt. Breasts remain hypoplastic after initial development during puberty, while pubic hairs develop in a normal fashion. Males may present with cryptorchidism, but are generally asymptomatic until after puberty when patients present with bone pain and tall stature. The pubertal growth spurt is absent, but linear growth continues due to incomplete epiphyseal closure and progressive genu valgum, eunuchoid proportion of the skeleton and osteoporosis manifest. For these reasons the diagnosis is often overlooked in men. Metabolic co-morbidities may manifest as obesity, steatohepatitis, insulin resistance with acanthosis nigricans and dyslipidemia. Fertility is partially or completely disrupted in male patients.EtiologyAromatase (CYP19A1, 15q21.1), or cytochrome P450, synthesizes estradiol from androgens. Several null mutations have been identified, placental expression of aromatase converts androgens to estradiol; excess androgens affect both the mother and fetal development. One reported case of a promoter region mutation exclusively inhibited placental expression.Diagnostic methodsFemales are generally diagnosed at birth. Male patients are usually diagnosed during adulthood due to continuing linear growth in height and unfused epiphyses are revealed by hand radiographs. Measurement of serum estradiol, testosterone and luteinizing hormone may be followed by genetic testing.Differential diagnosisIn female patients, differential diagnosis includes congenital adrenal hyperplasia (see this term); in male patients, estrogen resistance syndrome 46,XY disorder of sex development due to isolated 17, 20 lyase deficiency, congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency and congenital hypogonadotropic hypogonadism (see these terms).Antenatal diagnosisDuring the third trimester of gestation, mothers exhibit severe acne, deep voice and in some cases clitoral enlargement and hirsutism, symptoms resolve spontaneously post-partum. Genetic testing is recommended in these cases.Genetic counselingGenetic testing is recommended for families who have had one affected child, transmission is autosomal recessive.Management and treatmentFemale patients are candidates for surgical modification of genitalia depending on the degree of ambiguity and must be monitored for ovarian cysts. Upon puberty, daily treatment with estrogen must be administered (0.625 mg/twice weekly increasing to daily) and may be supplemented with progesterone-like hormone and monthly treatments of gonadotrophin-releasing hormone antagonists. Adult men should be treated immediately upon diagnosis: daily transdermal administration of up to 50 µg of estradiol (serum estradiol at 40 pg/ml) for 6-9 months to complete skeletal maturation. Upon epiphyseal closure, estradiol replacement may be reduced to 25 µg daily. Hypocaloric diet should be complemented with calcium, vitamin D and physical activity. Dyslipidemia, glucose intolerance or insulin resistance must be treated symptomatically.PrognosisLifetime hormone replacement therapy is obligatory. In male patients with late diagnosis, skeletal defects remain even after successful hormonal treatment and may require surgical correction. Furthermore, adiposity and fertility defects are not alleviated by estradiol treatment.Visit the Orphanet disease page for more resources. Last updated: 4/17/2013

MalaCards based summary : Aromatase Deficiency, also known as congenital estrogen deficiency, is related to estrogen resistance and hyperandrogenism, and has symptoms including bone pain, obesity and genu valgum. An important gene associated with Aromatase Deficiency is CYP19A1 (Cytochrome P450 Family 19 Subfamily A Member 1), and among its related pathways/superpathways are Steroid hormone biosynthesis and Ovarian steroidogenesis. Affiliated tissues include breast, bone and ovary, and related phenotypes are Decreased viability and Decreased viability

Genetics Home Reference : 24 Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone.

OMIM : 53 Aromatase deficiency is a rare autosomal recessive disorder in which individuals cannot synthesize endogenous estrogens. If a fetus lacks aromatase activity, dehydroepiandrosterone sulfate produced by the fetal adrenal glands cannot be converted to estrogen by the placenta, and is converted to testosterone peripherally and results in virilization of both fetus and mother. Virilization manifests as pseudohermaphroditism in female infants, with hirsutism and acne in the mother; the maternal indicators resolve following delivery. Affected females are usually diagnosed at birth because of the pseudohermaphroditism. Cystic ovaries and delayed bone maturation can occur during childhood and adolescence in these girls, who present at puberty with primary amenorrhea, failure of breast development, virilization, and hypergonadotropic hypogonadism. Affected males do not present with obvious defects at birth. Their clinical symptoms include tall stature, delayed skeletal maturation, delayed epiphyseal closure, bone pain, eunuchoid body proportions, and excess adiposity. Estrogen replacement therapy reverses the symptoms in males and females (summary by Jones et al., 2007). (613546)

UniProtKB/Swiss-Prot : 71 Aromatase deficiency: A rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries.

Wikipedia : 72 Aromatase deficiency is a condition resulting from insufficient production of the enzyme aromatase,... more...

Related Diseases for Aromatase Deficiency

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 estrogen resistance 32.4 CYP19A1 ESR1
2 hyperandrogenism 29.6 CYP19A1 GNRH1 INS
3 progesterone-receptor positive breast cancer 10.4 CYP19A1 ESR1
4 gender identity disorder 10.3 CYP19A1 ESR1
5 estrogen excess 10.3 CYP19A1 ESR1
6 mammographic density 10.3 CYP19A1 ESR1
7 endometriosis of ovary 10.3 CYP19A1 ESR1
8 endometrial disease 10.3 CYP19A1 ESR1
9 hyperpituitarism 10.3 GH1 INS
10 pituitary apoplexy 10.2 GNRH1 INS
11 dental fluorosis 10.2 BGLAP ESR1
12 prostatic hypertrophy 10.2 CYP19A1 ESR1
13 leydig cell tumor 10.2 CYP19A1 ESR1
14 uterine sarcoma 10.2 CYP19A1 ESR1
15 marshall-smith syndrome 10.2 GNRH1 LRP2
16 juvenile nasopharyngeal angiofibroma 10.1 CYP19A1 ESR1
17 hypothalamic disease 10.1 GH1 GNRH1
18 sex differentiation disease 10.1 CYP19A1 GNRH1 INS
19 anovulation 10.1 CYP19A1 GNRH1 INS
20 mccune-albright syndrome 10.1 BGLAP CYP19A1 GH1
21 ovarian disease 10.1 CYP19A1 GNRH1 INS
22 uterine benign neoplasm 10.1 ESR1 GNRH1
23 polycystic ovary syndrome 10.1 CYP19A1 GNRH1 INS
24 hyperthyroidism 10.0 BGLAP GH1 INS
25 idiopathic hypercalciuria 10.0 BGLAP TRPV5
26 leiomyoma, uterine 10.0 CYP19A1 ESR1 GNRH1
27 pituitary-dependent cushing's disease 10.0 GNRH1 INS
28 myoma 10.0 CYP19A1 ESR1 GNRH1
29 leiomyoma 10.0 CYP19A1 ESR1 GNRH1
30 precocious puberty 10.0 CYP19A1 GH1 GNRH1
31 endometriosis 10.0 CYP19A1 ESR1 GNRH1
32 empty sella syndrome 10.0 GH1 GNRH1 INS
33 chromophobe adenoma 10.0 GH1 GNRH1 INS
34 pituitary gland disease 10.0 GH1 GNRH1 INS
35 gonadal disease 10.0 GH1 GNRH1 INS
36 hypopituitarism 9.9 GH1 GNRH1 INS
37 uterine anomalies 9.9 CYP19A1 ESR1
38 female reproductive system disease 9.8 CYP19A1 ESR1 GNRH1 INS
39 reproductive system disease 9.8 CYP19A1 ESR1 GNRH1 INS
40 prader-willi syndrome 9.8 GH1 GNRH1 INS
41 insulin-like growth factor i 9.8 BGLAP ESR1 GH1 INS
42 endometrial cancer 9.7 CYP19A1 ESR1 GNRH1 INS
43 lipoid congenital adrenal hyperplasia 9.6
44 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 9.6
45 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.6
46 aging 9.6
47 amenorrhea 9.6
48 hypogonadism 9.6
49 pseudohermaphroditism 9.6
50 juvenile type testicular granulosa cell tumor 9.6

Graphical network of the top 20 diseases related to Aromatase Deficiency:



Diseases related to Aromatase Deficiency

Symptoms & Phenotypes for Aromatase Deficiency

Clinical features from OMIM:

613546

Human phenotypes related to Aromatase Deficiency:

55 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bone pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002653
2 obesity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001513
3 genu valgum 55 31 hallmark (90%) Very frequent (99-80%) HP:0002857
4 osteopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000938
5 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
6 type ii diabetes mellitus 55 31 frequent (33%) Frequent (79-30%) HP:0005978
7 osteoporosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000939
8 acanthosis nigricans 55 31 frequent (33%) Frequent (79-30%) HP:0000956
9 generalized hirsutism 55 31 frequent (33%) Frequent (79-30%) HP:0002230
10 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
11 growth delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001510
12 female infertility 55 31 hallmark (90%) Very frequent (99-80%) HP:0008222
13 primary amenorrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0000786
14 hepatic steatosis 55 31 frequent (33%) Frequent (79-30%) HP:0001397
15 hypergonadotropic hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000815
16 hyperlipidemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003077
17 female pseudohermaphroditism 55 31 hallmark (90%) Very frequent (99-80%) HP:0010458
18 enlarged polycystic ovaries 55 31 hallmark (90%) Very frequent (99-80%) HP:0008675
19 tall stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0000098
20 male infertility 55 31 hallmark (90%) Very frequent (99-80%) HP:0003251
21 insulin resistance 55 31 frequent (33%) Frequent (79-30%) HP:0000855
22 ambiguous genitalia, female 55 31 hallmark (90%) Very frequent (99-80%) HP:0000061
23 eunuchoid habitus 55 31 hallmark (90%) Very frequent (99-80%) HP:0003782
24 delayed epiphyseal ossification 55 31 hallmark (90%) Very frequent (99-80%) HP:0002663
25 maternal virilization in pregnancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008072
26 macroorchidism, postpubertal 55 31 frequent (33%) Frequent (79-30%) HP:0002050
27 ovarian cyst 31 HP:0000138

GenomeRNAi Phenotypes related to Aromatase Deficiency according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.8 TRPV6 ESR1 PRKAA2 TRPV5
2 Decreased viability GR00221-A-2 9.8 TRPV6 ESR1 PRKAA2
3 Decreased viability GR00221-A-3 9.8 TRPV6 PRKAA2
4 Decreased viability GR00221-A-4 9.8 TRPV6 ESR1 PRKAA2 TRPV5
5 Decreased viability GR00301-A 9.8 TRPV5
6 Decreased viability GR00342-S-1 9.8 PRKAA2

MGI Mouse Phenotypes related to Aromatase Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 CYP19A1 ESR1 INS LRP2 PRKAA2 SLC8A1
2 digestive/alimentary MP:0005381 9.8 CYP19A1 ESR1 GNRH1 INS LRP2 SLC8A1
3 endocrine/exocrine gland MP:0005379 9.7 INS LRP2 PRKAA2 SLC8A1 CYP19A1 ESR1
4 growth/size/body region MP:0005378 9.61 CYP19A1 ESR1 GNRH1 INS LRP2 PRKAA2
5 renal/urinary system MP:0005367 9.17 CYP19A1 ESR1 GNRH1 INS LRP2 PRKAA2

Drugs & Therapeutics for Aromatase Deficiency

Search Clinical Trials , NIH Clinical Center for Aromatase Deficiency

Cochrane evidence based reviews: 46, xx disorders of sex development

Genetic Tests for Aromatase Deficiency

Genetic tests related to Aromatase Deficiency:

# Genetic test Affiliating Genes
1 Aromatase Deficiency 28 CYP19A1

Anatomical Context for Aromatase Deficiency

MalaCards organs/tissues related to Aromatase Deficiency:

38
Breast, Bone, Ovary, Testes, Placenta, Adrenal Gland, Pituitary

Publications for Aromatase Deficiency

Articles related to Aromatase Deficiency:

(show top 50) (show all 61)
# Title Authors Year
1
Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia. ( 29324451 )
2018
2
Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization. ( 27256151 )
2016
3
Aromatase deficiency in a male patient - Case report and review of the literature. ( 27693882 )
2016
4
Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect. ( 25415177 )
2015
5
Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: Effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism. ( 25301327 )
2014
6
Aromatase deficiency in an adolescent girl misdiagnosed as congenital adrenal hyperplasia in infancy and childhood. ( 24825080 )
2014
7
A case of Aromatase deficiency due to a novel CYP19A1 mutation. ( 24552606 )
2014
8
Aromatase deficiency: rare cause of virilization. ( 23093430 )
2013
9
Hypothesis: Persistently elevated hCG causes gestational ovarian overstimulation associated with prolonged postpartum hyperandrogenism in mothers of aromatase-deficient babies. ( 23824416 )
2013
10
Aromatase deficiency: an unusual cause for primary amenorrhea with virilization. ( 24482950 )
2013
11
Aromatase deficiency, a rare syndrome: case report. ( 23748068 )
2013
12
Retraction. Neurological effects of aromatase deficiency in the mouse. ( 22250293 )
2012
13
Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency. ( 23329769 )
2012
14
Aromatase deficiency confers paradoxical postischemic cardioprotection. ( 22028441 )
2011
15
Aromatase deficiency and its consequences. ( 21691947 )
2011
16
Aromatase deficiency due to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. ( 21521281 )
2011
17
Steroid profiling in preeclamptic women: evidence for aromatase deficiency. ( 20691412 )
2010
18
Novel human pathological mutations. Gene symbol: CYP19A1. Disease: Aromatase deficiency. ( 20108383 )
2010
19
Unusual virilization in girls with juvenile granulosa cell tumors of the ovary is related to intratumoral aromatase deficiency. ( 20395670 )
2010
20
Novel human pathological mutations. Gene symbol: CYP19A1. Disease: Aromatase deficiency. ( 20108419 )
2010
21
Tall stature without growth hormone: four male patients with aromatase deficiency. ( 20164294 )
2010
22
Aromatase deficiency inhibits the permeability transition in mouse liver mitochondria. ( 20194728 )
2010
23
Aromatase deficiency in men: a clinical perspective. ( 19707181 )
2009
24
Testosterone action on erythropoiesis does not require its aromatization to estrogen: Insights from the testosterone and estrogen treatment of two aromatase-deficient men. ( 19159688 )
2009
25
Metformin, estrogen replacement therapy and gonadotropin inhibition fail to improve insulin sensitivity in a girl with aromatase deficiency. ( 19844126 )
2009
26
Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence. ( 19844120 )
2009
27
The effects of long-term raloxifene and estradiol treatments on bone in a patient with congenital aromatase deficiency. ( 19345749 )
2009
28
Human models of aromatase deficiency. ( 18448329 )
2008
29
Estrogen and adiposity--utilizing models of aromatase deficiency to explore the relationship. ( 17643292 )
2007
30
Oestradiol replacement treatment and glucose homeostasis in two men with congenital aromatase deficiency: evidence for a role of oestradiol and sex steroids imbalance on insulin sensitivity in men. ( 17976198 )
2007
31
Skeletal effects of long-term estrogen and testosterone replacement treatment in a man with congenital aromatase deficiency: evidences of a priming effect of estrogen for sex steroids action on bone. ( 17400043 )
2007
32
Aromatase deficiency causes altered expression of molecules critical for calcium reabsorption in the kidneys of female mice *. ( 17708714 )
2007
33
The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues. ( 17608756 )
2007
34
Recognizing rare disorders: aromatase deficiency. ( 17452968 )
2007
35
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. ( 16439592 )
2006
36
Of mice and men: the evolving phenotype of aromatase deficiency. ( 16480891 )
2006
37
Hypothalamic-pituitary-gonadal axis in two men with aromatase deficiency: evidence that circulating estrogens are required at the hypothalamic level for the integrity of gonadotropin negative feedback. ( 16990650 )
2006
38
Oestrogen modulation of the effect of 8-OH-DPAT on prepulse inhibition: effects of aromatase deficiency and castration in mice. ( 16896955 )
2006
39
Effects of estrogen replacement therapy on bone and glucose metabolism in a male with congenital aromatase deficiency. ( 15824973 )
2005
40
Human gene mutations. Gene symbol: CYP19. Disease: Aromatase deficiency. ( 15046111 )
2004
41
[Aromatase deficiency]. ( 14968547 )
2004
42
Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene. ( 14602738 )
2003
43
Neurological effects of aromatase deficiency in the mouse. ( 14623532 )
2003
44
[Estrogen resistance and aromatase deficiency in humans]. ( 12462077 )
2002
45
Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene. ( 12466340 )
2002
46
Pituitary function in a man with congenital aromatase deficiency: effect of different doses of transdermal E2 on basal and stimulated pituitary hormones. ( 12050263 )
2002
47
Sex- and age-related response to aromatase deficiency in bone. ( 11162635 )
2001
48
Estrogen replacement therapy in a man with congenital aromatase deficiency: effects of different doses of transdermal estradiol on bone mineral density and hormonal parameters. ( 10843162 )
2000
49
Bone has a sexually dimorphic response to aromatase deficiency. ( 10750565 )
2000
50
Aromatase deficiency and estrogen resistance: from molecular genetics to clinic. ( 11305285 )
2000

Variations for Aromatase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Aromatase Deficiency:

71
# Symbol AA change Variation ID SNP ID
1 CYP19A1 p.Arg365Gln VAR_016962 rs80051519
2 CYP19A1 p.Arg375Cys VAR_016963 rs121434536
3 CYP19A1 p.Arg435Cys VAR_016964 rs121434534
4 CYP19A1 p.Cys437Tyr VAR_016965 rs78310315
5 CYP19A1 p.Arg192His VAR_072784 rs765057534

ClinVar genetic disease variations for Aromatase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP19A1 NM_031226.2(CYP19A1): c.1303C> T (p.Arg435Cys) single nucleotide variant Pathogenic rs121434534 GRCh37 Chromosome 15, 51503214: 51503214
2 CYP19A1 NM_031226.2(CYP19A1): c.1310G> A (p.Cys437Tyr) single nucleotide variant Pathogenic rs78310315 GRCh37 Chromosome 15, 51503207: 51503207
3 CYP19A1 NM_031226.2(CYP19A1): c.743+2T> C single nucleotide variant Pathogenic rs786205107 GRCh38 Chromosome 15, 51218539: 51218539
4 CYP19A1 NM_031226.2(CYP19A1): c.1123C> T (p.Arg375Cys) single nucleotide variant Pathogenic rs121434536 GRCh37 Chromosome 15, 51504657: 51504657
5 CYP19A1 NM_031226.2(CYP19A1): c.1224delC (p.Lys409Asnfs) deletion Pathogenic rs786205108 GRCh38 Chromosome 15, 51212359: 51212359
6 CYP19A1 NM_031226.2(CYP19A1): c.296+1G> A single nucleotide variant Pathogenic rs786205109 GRCh38 Chromosome 15, 51236858: 51236858
7 CYP19A1 NM_031226.2(CYP19A1): c.1094G> A (p.Arg365Gln) single nucleotide variant Pathogenic rs80051519 GRCh37 Chromosome 15, 51504686: 51504686
8 CYP19A1 CYP19A1, 1-BP DEL, C, CODON 156 deletion Pathogenic
9 CYP19A1 NM_031226.2(CYP19A1): c.629-3C> A single nucleotide variant Pathogenic rs786205110 GRCh38 Chromosome 15, 51218658: 51218658
10 CYP19A1 NM_031226.2(CYP19A1): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic rs121434538 GRCh37 Chromosome 15, 51514546: 51514546

Expression for Aromatase Deficiency

Search GEO for disease gene expression data for Aromatase Deficiency.

Pathways for Aromatase Deficiency

Pathways related to Aromatase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140
2 Ovarian steroidogenesis hsa04913

GO Terms for Aromatase Deficiency

Cellular components related to Aromatase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 8.8 GH1 INS LRP2

Biological processes related to Aromatase Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.65 SLC8A1 TRPV5 TRPV6
2 calcium ion transmembrane transport GO:0070588 9.61 SLC8A1 TRPV5 TRPV6
3 response to testosterone GO:0033574 9.51 BGLAP GNRH1
4 glucose transport GO:0015758 9.49 GH1 INS
5 positive regulation of glycolytic process GO:0045821 9.46 INS PRKAA2
6 androgen metabolic process GO:0008209 9.4 CYP19A1 ESR1
7 uterus development GO:0060065 9.37 CYP19A1 ESR1
8 calcium ion transport into cytosol GO:0060402 9.32 SLC8A1 TRPV5
9 fatty acid homeostasis GO:0055089 9.26 INS PRKAA2
10 vagina development GO:0060068 9.16 ESR1 LRP2
11 calcium ion import across plasma membrane GO:0098703 8.96 TRPV5 TRPV6
12 calcium ion homeostasis GO:0055074 8.8 SLC8A1 TRPV5 TRPV6

Molecular functions related to Aromatase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.33 SLC8A1 TRPV5 TRPV6
2 metal ion binding GO:0046872 9.28 BGLAP CYP19A1 ESR1 GH1 LRP2 PRKAA2
3 hormone activity GO:0005179 9.13 GH1 GNRH1 INS

Sources for Aromatase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
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32 ICD10
33 ICD10 via Orphanet
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37 LifeMap
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42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
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67 TGDB
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