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 57 76 53 25 59 75 37 29 13 6 40 73
Congenital Estrogen Deficiency 53 59
Placental Aromatase Deficiency 25 73
46,xx Disorder of Sex Development Due to Placental Aromatase Deficiency 25
Pseudohermaphroditism, Female, Due to Placental Aromatase Deficiency 57
Pseudohermaphroditism Female Due to Placental Aromatase Deficiency 75
46, Xx Disorders of Sex Development 44
Oestrogen Synthetase Deficiency 25
Estrogen Synthetase Deficiency 25
Arod 75

Characteristics:

Orphanet epidemiological data:

59
aromatase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

HPO:

32
aromatase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613546
Orphanet 59 ORPHA91
UMLS via Orphanet 74 C1960539 C0878680 C0853662
MESH via Orphanet 45 C537436
ICD10 via Orphanet 34 E25.8
KEGG 37 H02020
ICD10 33 Q56.2

Summaries for Aromatase Deficiency

NIH Rare Diseases : 53 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.

MalaCards based summary : Aromatase Deficiency, also known as congenital estrogen deficiency, is related to hyperandrogenism and estrogen resistance. 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 obesity and genu valgum

Genetics Home Reference : 25 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 : 57 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 : 75 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 : 76 Aromatase deficiency is a very rare condition characterised by the extremely low or absence of the... 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 53)
# Related Disease Score Top Affiliating Genes
1 hyperandrogenism 29.6 CYP19A1 GNRH1 INS
2 estrogen resistance 11.3
3 progesterone-receptor positive breast cancer 10.6 CYP19A1 ESR1
4 gender identity disorder 10.5 CYP19A1 ESR1
5 estrogen excess 10.5 CYP19A1 ESR1
6 mammographic density 10.5 CYP19A1 ESR1
7 endometriosis of ovary 10.5 CYP19A1 ESR1
8 endometrial disease 10.4 CYP19A1 ESR1
9 hyperpituitarism 10.4 GH1 INS
10 pituitary apoplexy 10.4 GNRH1 INS
11 prostatic hypertrophy 10.4 CYP19A1 ESR1
12 dental fluorosis 10.4 BGLAP ESR1
13 juvenile nasopharyngeal angiofibroma 10.3 CYP19A1 ESR1
14 uterine sarcoma 10.3 CYP19A1 ESR1
15 marshall-smith syndrome 10.2 GNRH1 LRP2
16 hypothalamic disease 10.2 GH1 GNRH1
17 idiopathic hypercalciuria 10.2 BGLAP TRPV5
18 sex differentiation disease 10.2 CYP19A1 GNRH1 INS
19 empty sella syndrome 10.2 GH1 GNRH1
20 pituitary-dependent cushing's disease 10.2 GNRH1 INS
21 anovulation 10.2 CYP19A1 GNRH1 INS
22 uterine anomalies 10.1 CYP19A1 ESR1
23 mccune-albright syndrome 10.1 BGLAP CYP19A1 GH1
24 ovarian disease 10.1 CYP19A1 GNRH1 INS
25 polycystic ovary syndrome 10.1 CYP19A1 GNRH1 INS
26 hyperthyroidism 10.1 BGLAP GH1 INS
27 myoma 10.0 CYP19A1 ESR1 GNRH1
28 endometriosis 10.0 CYP19A1 ESR1 GNRH1
29 precocious puberty 10.0 CYP19A1 GH1 GNRH1
30 leiomyoma 10.0 CYP19A1 ESR1 GNRH1
31 chromophobe adenoma 9.9 GH1 GNRH1 INS
32 pituitary gland disease 9.9 GH1 GNRH1 INS
33 gonadal disease 9.9 GH1 GNRH1 INS
34 craniopharyngioma 9.9 GH1 GNRH1 INS
35 hypopituitarism 9.9 GH1 GNRH1 INS
36 endogenous depression 9.9 GNRH1 INS
37 prader-willi syndrome 9.7 GH1 GNRH1 INS
38 female reproductive system disease 9.7 CYP19A1 ESR1 GNRH1 INS
39 reproductive system disease 9.7 CYP19A1 ESR1 GNRH1 INS
40 insulin-like growth factor i 9.6 BGLAP ESR1 GH1 INS
41 lipoid congenital adrenal hyperplasia 9.6
42 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 9.6
43 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.6
44 aging 9.6
45 amenorrhea 9.6
46 hypogonadism 9.6
47 pseudohermaphroditism 9.6
48 juvenile type testicular granulosa cell tumor 9.6
49 cytochrome p450 oxidoreductase deficiency 9.6
50 granulosa cell tumor of the ovary 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:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
2 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
3 osteopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000938
4 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
5 type ii diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0005978
6 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
7 acanthosis nigricans 59 32 frequent (33%) Frequent (79-30%) HP:0000956
8 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
9 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
10 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
11 female infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0008222
12 primary amenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000786
13 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
14 hypergonadotropic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000815
15 hyperlipidemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003077
16 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
17 female pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0010458
18 enlarged polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%) HP:0008675
19 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
20 male infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0003251
21 insulin resistance 59 32 frequent (33%) Frequent (79-30%) HP:0000855
22 ambiguous genitalia, female 59 32 hallmark (90%) Very frequent (99-80%) HP:0000061
23 eunuchoid habitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003782
24 delayed epiphyseal ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0002663
25 maternal virilization in pregnancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008072
26 macroorchidism, postpubertal 59 32 frequent (33%) Frequent (79-30%) HP:0002050
27 ovarian cyst 32 HP:0000138

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.9 TRPV6 PRKAA2 TRPV5 ESR1
2 Decreased viability GR00221-A-2 9.9 TRPV6 PRKAA2 ESR1
3 Decreased viability GR00221-A-3 9.9 TRPV6 PRKAA2
4 Decreased viability GR00221-A-4 9.9 TRPV6 PRKAA2 TRPV5 ESR1
5 Decreased viability GR00301-A 9.9 TRPV5
6 Decreased viability GR00342-S-1 9.9 PRKAA2
7 Decreased viability GR00402-S-2 9.9 TRPV6 PRKAA2 TRPV5 ESR1

MGI Mouse Phenotypes related to Aromatase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 LRP2 PRKAA2 SLC8A1 TRPV5 TRPV6 CYP19A1
2 digestive/alimentary MP:0005381 9.8 CYP19A1 ESR1 GNRH1 INS LRP2 SLC8A1
3 endocrine/exocrine gland MP:0005379 9.7 CYP19A1 ESR1 GNRH1 INS LRP2 PRKAA2
4 growth/size/body region MP:0005378 9.61 CYP19A1 ESR1 GNRH1 INS LRP2 PRKAA2
5 renal/urinary system MP:0005367 9.17 PRKAA2 TRPV5 CYP19A1 ESR1 GNRH1 INS

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 29 CYP19A1

Anatomical Context for Aromatase Deficiency

MalaCards organs/tissues related to Aromatase Deficiency:

41
Breast, Bone, Ovary, Testes, Placenta, Adrenal Gland, Pituitary

Publications for Aromatase Deficiency

Articles related to Aromatase Deficiency:

(show top 50) (show all 64)
# 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 due to a Novel Mutation in <i>CYP19A1</i> Gene. ( 29553041 )
2018
3
Aromatase deficiency in a male patient - Case report and review of the literature. ( 27693882 )
2016
4
Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization. ( 27256151 )
2016
5
Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect. ( 25415177 )
2015
6
A case of Aromatase deficiency due to a novel CYP19A1 mutation. ( 24552606 )
2014
7
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
8
Aromatase deficiency in an adolescent girl misdiagnosed as congenital adrenal hyperplasia in infancy and childhood. ( 24825080 )
2014
9
Aromatase deficiency: rare cause of virilization. ( 23093430 )
2013
10
Aromatase deficiency, a rare syndrome: case report. ( 23748068 )
2013
11
Aromatase deficiency: an unusual cause for primary amenorrhea with virilization. ( 24482950 )
2013
12
Hypothesis: Persistently elevated hCG causes gestational ovarian overstimulation associated with prolonged postpartum hyperandrogenism in mothers of aromatase-deficient babies. ( 23824416 )
2013
13
Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency. ( 23329769 )
2012
14
Retraction. Neurological effects of aromatase deficiency in the mouse. ( 22250293 )
2012
15
Aromatase deficiency due to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. ( 21521281 )
2011
16
Aromatase deficiency and its consequences. ( 21691947 )
2011
17
Aromatase deficiency confers paradoxical postischemic cardioprotection. ( 22028441 )
2011
18
Steroid profiling in preeclamptic women: evidence for aromatase deficiency. ( 20691412 )
2010
19
Novel human pathological mutations. Gene symbol: CYP19A1. Disease: Aromatase deficiency. ( 20108383 )
2010
20
Unusual virilization in girls with juvenile granulosa cell tumors of the ovary is related to intratumoral aromatase deficiency. ( 20395670 )
2010
21
Novel human pathological mutations. Gene symbol: CYP19A1. Disease: Aromatase deficiency. ( 20108419 )
2010
22
Aromatase deficiency inhibits the permeability transition in mouse liver mitochondria. ( 20194728 )
2010
23
Tall stature without growth hormone: four male patients with aromatase deficiency. ( 20164294 )
2010
24
The effects of long-term raloxifene and estradiol treatments on bone in a patient with congenital aromatase deficiency. ( 19345749 )
2009
25
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
26
Metformin, estrogen replacement therapy and gonadotropin inhibition fail to improve insulin sensitivity in a girl with aromatase deficiency. ( 19844126 )
2009
27
Aromatase deficiency in men: a clinical perspective. ( 19707181 )
2009
28
Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence. ( 19844120 )
2009
29
Human models of aromatase deficiency. ( 18448329 )
2008
30
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
31
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
32
Estrogen and adiposity--utilizing models of aromatase deficiency to explore the relationship. ( 17643292 )
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
Aromatase deficiency causes altered expression of molecules critical for calcium reabsorption in the kidneys of female mice *. ( 17708714 )
2007
35
Recognizing rare disorders: aromatase deficiency. ( 17452968 )
2007
36
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
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
Of mice and men: the evolving phenotype of aromatase deficiency. ( 16480891 )
2006
40
Effects of estrogen replacement therapy on bone and glucose metabolism in a male with congenital aromatase deficiency. ( 15824973 )
2005
41
Human gene mutations. Gene symbol: CYP19. Disease: Aromatase deficiency. ( 15046111 )
2004
42
[Aromatase deficiency]. ( 14968547 )
2004
43
Neurological effects of aromatase deficiency in the mouse. ( 14623532 )
2003
44
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
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
[Estrogen resistance and aromatase deficiency in humans]. ( 12462077 )
2002
48
Bone phenotype of the aromatase deficient mouse. ( 11850207 )
2001
49
Sex- and age-related response to aromatase deficiency in bone. ( 11162635 )
2001
50
Altered expression of fatty acid-metabolizing enzymes in aromatase-deficient mice. ( 10862797 )
2000

Variations for Aromatase Deficiency

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

75
# 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
(show top 50) (show all 107)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP19A1 NM_031226.2(CYP19A1): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic rs121434538 GRCh38 Chromosome 15, 51222349: 51222349
2 CYP19A1 NM_031226.2(CYP19A1): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic rs121434538 GRCh37 Chromosome 15, 51514546: 51514546
3 CYP19A1 NM_031226.2(CYP19A1): c.1303C> T (p.Arg435Cys) single nucleotide variant Pathogenic rs121434534 GRCh37 Chromosome 15, 51503214: 51503214
4 CYP19A1 NM_031226.2(CYP19A1): c.1303C> T (p.Arg435Cys) single nucleotide variant Pathogenic rs121434534 GRCh38 Chromosome 15, 51211017: 51211017
5 CYP19A1 NM_031226.2(CYP19A1): c.1310G> A (p.Cys437Tyr) single nucleotide variant Pathogenic rs78310315 GRCh37 Chromosome 15, 51503207: 51503207
6 CYP19A1 NM_031226.2(CYP19A1): c.1310G> A (p.Cys437Tyr) single nucleotide variant Pathogenic rs78310315 GRCh38 Chromosome 15, 51211010: 51211010
7 CYP19A1 NM_031226.2(CYP19A1): c.743+2T> C single nucleotide variant Pathogenic rs786205107 GRCh38 Chromosome 15, 51218539: 51218539
8 CYP19A1 NM_031226.2(CYP19A1): c.743+2T> C single nucleotide variant Pathogenic rs786205107 GRCh37 Chromosome 15, 51510736: 51510736
9 CYP19A1 NM_031226.2(CYP19A1): c.1123C> T (p.Arg375Cys) single nucleotide variant Pathogenic rs121434536 GRCh37 Chromosome 15, 51504657: 51504657
10 CYP19A1 NM_031226.2(CYP19A1): c.1123C> T (p.Arg375Cys) single nucleotide variant Pathogenic rs121434536 GRCh38 Chromosome 15, 51212460: 51212460
11 CYP19A1 NM_031226.2(CYP19A1): c.1224delC (p.Lys409Asnfs) deletion Pathogenic rs786205108 GRCh38 Chromosome 15, 51212359: 51212359
12 CYP19A1 NM_031226.2(CYP19A1): c.1224delC (p.Lys409Asnfs) deletion Pathogenic rs786205108 GRCh37 Chromosome 15, 51504556: 51504556
13 CYP19A1 NM_031226.2(CYP19A1): c.296+1G> A single nucleotide variant Pathogenic rs786205109 GRCh37 Chromosome 15, 51529055: 51529055
14 CYP19A1 NM_031226.2(CYP19A1): c.296+1G> A single nucleotide variant Pathogenic rs786205109 GRCh38 Chromosome 15, 51236858: 51236858
15 CYP19A1 NM_031226.2(CYP19A1): c.1094G> A (p.Arg365Gln) single nucleotide variant Pathogenic rs80051519 GRCh37 Chromosome 15, 51504686: 51504686
16 CYP19A1 NM_031226.2(CYP19A1): c.1094G> A (p.Arg365Gln) single nucleotide variant Pathogenic rs80051519 GRCh38 Chromosome 15, 51212489: 51212489
17 CYP19A1 CYP19A1, 1-BP DEL, C, CODON 156 deletion Pathogenic
18 CYP19A1 NM_031226.2(CYP19A1): c.629-3C> A single nucleotide variant Pathogenic rs786205110 GRCh37 Chromosome 15, 51510855: 51510855
19 CYP19A1 NM_031226.2(CYP19A1): c.629-3C> A single nucleotide variant Pathogenic rs786205110 GRCh38 Chromosome 15, 51218658: 51218658
20 CYP19A1 NM_031226.2(CYP19A1): c.*2258_*2259insA insertion Benign rs3217422 GRCh37 Chromosome 15, 51500746: 51500747
21 CYP19A1 NM_031226.2(CYP19A1): c.*2258_*2259insA insertion Benign rs3217422 GRCh38 Chromosome 15, 51208549: 51208550
22 CYP19A1 NM_031226.2(CYP19A1): c.*2170G> A single nucleotide variant Benign rs2255192 GRCh37 Chromosome 15, 51500835: 51500835
23 CYP19A1 NM_031226.2(CYP19A1): c.*2170G> A single nucleotide variant Benign rs2255192 GRCh38 Chromosome 15, 51208638: 51208638
24 CYP19A1 NM_031226.2(CYP19A1): c.*483G> C single nucleotide variant Uncertain significance rs886051276 GRCh38 Chromosome 15, 51210325: 51210325
25 CYP19A1 NM_031226.2(CYP19A1): c.*483G> C single nucleotide variant Uncertain significance rs886051276 GRCh37 Chromosome 15, 51502522: 51502522
26 CYP19A1 NM_031226.2(CYP19A1): c.*2645dupC duplication Uncertain significance rs886051269 GRCh38 Chromosome 15, 51208163: 51208163
27 CYP19A1 NM_031226.2(CYP19A1): c.*2645dupC duplication Uncertain significance rs886051269 GRCh37 Chromosome 15, 51500360: 51500360
28 CYP19A1 NM_031226.2(CYP19A1): c.*1888A> G single nucleotide variant Benign rs4275794 GRCh38 Chromosome 15, 51208920: 51208920
29 CYP19A1 NM_031226.2(CYP19A1): c.*1888A> G single nucleotide variant Benign rs4275794 GRCh37 Chromosome 15, 51501117: 51501117
30 CYP19A1 NM_031226.2(CYP19A1): c.*1877T> G single nucleotide variant Uncertain significance rs886051273 GRCh38 Chromosome 15, 51208931: 51208931
31 CYP19A1 NM_031226.2(CYP19A1): c.*1877T> G single nucleotide variant Uncertain significance rs886051273 GRCh37 Chromosome 15, 51501128: 51501128
32 CYP19A1 NM_031226.2(CYP19A1): c.*1608C> T single nucleotide variant Uncertain significance rs781782351 GRCh38 Chromosome 15, 51209200: 51209200
33 CYP19A1 NM_031226.2(CYP19A1): c.*1608C> T single nucleotide variant Uncertain significance rs781782351 GRCh37 Chromosome 15, 51501397: 51501397
34 CYP19A1 NM_031226.2(CYP19A1): c.*460G> C single nucleotide variant Uncertain significance rs28757208 GRCh38 Chromosome 15, 51210348: 51210348
35 CYP19A1 NM_031226.2(CYP19A1): c.*460G> C single nucleotide variant Uncertain significance rs28757208 GRCh37 Chromosome 15, 51502545: 51502545
36 CYP19A1 NM_031226.2(CYP19A1): c.-94_-93delAG deletion Uncertain significance rs780146461 GRCh37 Chromosome 15, 51616067: 51616068
37 CYP19A1 NM_031226.2(CYP19A1): c.*191C> A single nucleotide variant Uncertain significance rs190403648 GRCh38 Chromosome 15, 51210617: 51210617
38 CYP19A1 NM_031226.2(CYP19A1): c.*191C> A single nucleotide variant Uncertain significance rs190403648 GRCh37 Chromosome 15, 51502814: 51502814
39 CYP19A1 NM_031226.2(CYP19A1): c.1378G> A (p.Val460Met) single nucleotide variant Uncertain significance rs372500474 GRCh38 Chromosome 15, 51210942: 51210942
40 CYP19A1 NM_031226.2(CYP19A1): c.1378G> A (p.Val460Met) single nucleotide variant Uncertain significance rs372500474 GRCh37 Chromosome 15, 51503139: 51503139
41 CYP19A1 NM_031226.2(CYP19A1): c.953T> C (p.Met318Thr) single nucleotide variant Uncertain significance rs143839949 GRCh38 Chromosome 15, 51215138: 51215138
42 CYP19A1 NM_031226.2(CYP19A1): c.953T> C (p.Met318Thr) single nucleotide variant Uncertain significance rs143839949 GRCh37 Chromosome 15, 51507335: 51507335
43 CYP19A1 NM_031226.2(CYP19A1): c.186C> T (p.His62=) single nucleotide variant Benign/Likely benign rs60308277 GRCh38 Chromosome 15, 51236969: 51236969
44 CYP19A1 NM_031226.2(CYP19A1): c.186C> T (p.His62=) single nucleotide variant Benign/Likely benign rs60308277 GRCh37 Chromosome 15, 51529166: 51529166
45 CYP19A1 NM_031226.2(CYP19A1): c.115T> C (p.Trp39Arg) single nucleotide variant Likely benign rs2236722 GRCh38 Chromosome 15, 51242798: 51242798
46 CYP19A1 NM_031226.2(CYP19A1): c.115T> C (p.Trp39Arg) single nucleotide variant Likely benign rs2236722 GRCh37 Chromosome 15, 51534995: 51534995
47 CYP19A1 NM_031226.2(CYP19A1): c.-59C> A single nucleotide variant Likely benign rs28757082 GRCh38 Chromosome 15, 51323836: 51323836
48 CYP19A1 NM_031226.2(CYP19A1): c.-59C> A single nucleotide variant Likely benign rs28757082 GRCh37 Chromosome 15, 51616033: 51616033
49 CYP19A1 NM_031226.2(CYP19A1): c.-94_-93delAG deletion Uncertain significance rs780146461 GRCh38 Chromosome 15, 51323870: 51323871
50 CYP19A1 NM_031226.2(CYP19A1): c.-146C> T single nucleotide variant Uncertain significance rs530192973 GRCh38 Chromosome 15, 51323923: 51323923

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:

37
# 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 dendrite GO:0030425 9.26 BGLAP GNRH1 LRP2 PRKAA2
2 endosome lumen GO:0031904 8.8 GH1 INS LRP2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.7 GNRH1 INS PRKAA2
2 calcium ion transport GO:0006816 9.67 SLC8A1 TRPV5 TRPV6
3 calcium ion transmembrane transport GO:0070588 9.63 SLC8A1 TRPV5 TRPV6
4 response to testosterone GO:0033574 9.51 BGLAP GNRH1
5 positive regulation of glycolytic process GO:0045821 9.48 INS PRKAA2
6 androgen metabolic process GO:0008209 9.43 CYP19A1 ESR1
7 uterus development GO:0060065 9.4 CYP19A1 ESR1
8 calcium ion transport into cytosol GO:0060402 9.37 SLC8A1 TRPV5
9 fatty acid homeostasis GO:0055089 9.32 INS PRKAA2
10 vagina development GO:0060068 9.26 ESR1 LRP2
11 calcium ion import across plasma membrane GO:0098703 9.16 TRPV5 TRPV6
12 response to nutrient levels GO:0031667 9.13 BGLAP GH1 INS
13 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
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
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