AROD
MCID: ARM001
MIFTS: 51

Aromatase Deficiency (AROD)

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

Aliases & Classifications for Aromatase Deficiency

MalaCards integrated aliases for Aromatase Deficiency:

Name: Aromatase Deficiency 58 77 54 26 60 76 38 30 13 6 41 74
Congenital Estrogen Deficiency 54 60
Placental Aromatase Deficiency 26 74
46,xx Disorder of Sex Development Due to Placental Aromatase Deficiency 26
Pseudohermaphroditism, Female, Due to Placental Aromatase Deficiency 58
Pseudohermaphroditism Female Due to Placental Aromatase Deficiency 76
46, Xx Disorders of Sex Development 45
Oestrogen Synthetase Deficiency 26
Estrogen Synthetase Deficiency 26
Arod 76

Characteristics:

Orphanet epidemiological data:

60
aromatase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

HPO:

33
aromatase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613546
KEGG 38 H02020
ICD10 34 Q56.2
MESH via Orphanet 46 C537436
ICD10 via Orphanet 35 E25.8
UMLS via Orphanet 75 C0853662 C0878680 C1960539
Orphanet 60 ORPHA91

Summaries for Aromatase Deficiency

NIH Rare Diseases : 54 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 : 26 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 : 58 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 : 76 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 : 77 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 58)
# Related Disease Score Top Affiliating Genes
1 hyperandrogenism 29.9 CYP19A1 GNRH1 INS
2 estrogen resistance 11.5
3 progesterone-receptor positive breast cancer 10.3 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 pituitary apoplexy 10.3 GNRH1 INS
8 endometriosis of ovary 10.3 CYP19A1 ESR1
9 hyperpituitarism 10.3 GH1 INS
10 endometrial disease 10.2 CYP19A1 ESR1
11 dental fluorosis 10.2 BGLAP ESR1
12 hypothalamic disease 10.2 GH1 GNRH1
13 central precocious puberty 10.2 GH1 GNRH1
14 prostatic hypertrophy 10.2 CYP19A1 ESR1
15 empty sella syndrome 10.2 GH1 GNRH1
16 tsh producing pituitary tumor 10.2 GH1 GNRH1
17 mccune-albright syndrome 10.2 BGLAP CYP19A1 GH1
18 autism spectrum disorder 10.2
19 uterine benign neoplasm 10.2 ESR1 GNRH1
20 anovulation 10.2 CYP19A1 GNRH1 INS
21 juvenile nasopharyngeal angiofibroma 10.2 CYP19A1 ESR1
22 reproductive organ benign neoplasm 10.1 CYP19A1 ESR1 GNRH1
23 adenomyosis 10.1 CYP19A1 ESR1 GNRH1
24 polycystic ovary syndrome 10.1 CYP19A1 GNRH1 INS
25 precocious puberty 10.1 CYP19A1 GH1 GNRH1
26 hyperthyroidism 10.1 BGLAP GH1 INS
27 myoma 10.1 CYP19A1 ESR1 GNRH1
28 female reproductive system disease 10.1 CYP19A1 ESR1 GNRH1
29 achondroplasia 10.1
30 reproductive system disease 10.1 CYP19A1 ESR1 GNRH1
31 leiomyoma 10.1 CYP19A1 ESR1 GNRH1
32 chromophobe adenoma 10.1 GH1 GNRH1 INS
33 endometriosis 10.1 CYP19A1 ESR1 GNRH1
34 pituitary gland disease 10.1 GH1 GNRH1 INS
35 craniopharyngioma 10.1 GH1 GNRH1 INS
36 hypopituitarism 10.1 GH1 GNRH1 INS
37 pituitary-dependent cushing's disease 10.1 GNRH1 INS
38 uterine sarcoma 10.1 CYP19A1 ESR1
39 ovarian disease 10.0 CYP19A1 ESR1 GNRH1 INS
40 insulin-like growth factor i 10.0 BGLAP ESR1 GH1 INS
41 osteoporosis 9.9 BGLAP CYP19A1 ESR1 GH1
42 prader-willi syndrome 9.9 GH1 GNRH1 INS
43 lipoid congenital adrenal hyperplasia 9.9
44 fatty liver disease, nonalcoholic 1 9.9
45 pseudohermaphroditism 9.9
46 endometrial cancer 9.8 CYP19A1 ESR1 GNRH1 INS
47 nephrolithiasis 9.8 INS LRP2 TRPV5
48 gonadal disease 9.8 CYP19A1 ESR1 GH1 GNRH1 INS
49 autoimmune disease 9.8
50 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 9.8

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



Diseases related to Aromatase Deficiency

Symptoms & Phenotypes for Aromatase Deficiency

Human phenotypes related to Aromatase Deficiency:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
2 genu valgum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002857
3 osteopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000938
4 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
5 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
6 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
7 growth delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001510
8 female infertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0008222
9 primary amenorrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000786
10 hypergonadotropic hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000815
11 hyperlipidemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003077
12 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
13 female pseudohermaphroditism 60 33 hallmark (90%) Very frequent (99-80%) HP:0010458
14 enlarged polycystic ovaries 60 33 hallmark (90%) Very frequent (99-80%) HP:0008675
15 tall stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0000098
16 male infertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0003251
17 ambiguous genitalia, female 60 33 hallmark (90%) Very frequent (99-80%) HP:0000061
18 eunuchoid habitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0003782
19 delayed epiphyseal ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0002663
20 maternal virilization in pregnancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008072
21 type ii diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0005978
22 acanthosis nigricans 60 33 frequent (33%) Frequent (79-30%) HP:0000956
23 generalized hirsutism 60 33 frequent (33%) Frequent (79-30%) HP:0002230
24 hepatic steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0001397
25 insulin resistance 60 33 frequent (33%) Frequent (79-30%) HP:0000855
26 macroorchidism, postpubertal 60 33 frequent (33%) Frequent (79-30%) HP:0002050
27 ovarian cyst 33 HP:0000138

Clinical features from OMIM:

613546

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.9 ESR1 PRKAA2 TRPV5 TRPV6
2 Decreased viability GR00221-A-2 9.9 ESR1 PRKAA2 TRPV6
3 Decreased viability GR00221-A-3 9.9 PRKAA2 TRPV6
4 Decreased viability GR00221-A-4 9.9 ESR1 PRKAA2 TRPV5 TRPV6
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 ESR1 PRKAA2 TRPV5 TRPV6

MGI Mouse Phenotypes related to Aromatase Deficiency:

47
# 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 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 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 30 CYP19A1

Anatomical Context for Aromatase Deficiency

MalaCards organs/tissues related to Aromatase Deficiency:

42
Breast, Bone, Ovary, Testes, Placenta, Adrenal Gland, Pituitary

Publications for Aromatase Deficiency

Articles related to Aromatase Deficiency:

(show top 50) (show all 68)
# Title Authors Year
1
Aromatase Deficiency in Two Siblings with 46, XX Karyotype Rraised as Different Genders: A Novel Mutation (p.R115X) in CYP19A1 Gene ( 30968679 )
2019
2
Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene ( 29553041 )
2018
3
A novel homozygous CYP19A1 gene mutation: Aromatase deficiency mimicking congenital adrenal hyperplasia in an infant without obvious maternal virilisation. ( 30074481 )
2018
4
Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia. ( 29324451 )
2017
5
Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization. ( 27256151 )
2016
6
Aromatase deficiency in a male patient - Case report and review of the literature. ( 27693882 )
2016
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 )
2015
8
Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect. ( 25415177 )
2015
9
A case of Aromatase deficiency due to a novel CYP19A1 mutation. ( 24552606 )
2014
10
Aromatase deficiency in an adolescent girl misdiagnosed as congenital adrenal hyperplasia in infancy and childhood. ( 24825080 )
2014
11
Aromatase deficiency: an unusual cause for primary amenorrhea with virilization. ( 24482950 )
2013
12
Aromatase deficiency: rare cause of virilization. ( 23093430 )
2013
13
Aromatase deficiency, a rare syndrome: case report. ( 23748068 )
2013
14
Retraction. Neurological effects of aromatase deficiency in the mouse. ( 22250293 )
2012
15
Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency. ( 23329769 )
2012
16
Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. ( 21521281 )
2011
17
Aromatase deficiency and its consequences. ( 21691947 )
2011
18
Aromatase deficiency confers paradoxical postischemic cardioprotection. ( 22028441 )
2011
19
Novel human pathological mutations. Gene symbol: CYP19A1. Disease: Aromatase deficiency. ( 20108383 )
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
Unusual virilization in girls with juvenile granulosa cell tumors of the ovary is related to intratumoral aromatase deficiency. ( 20395670 )
2010
24
Steroid profiling in preeclamptic women: evidence for aromatase deficiency. ( 20691412 )
2010
25
The effects of long-term raloxifene and estradiol treatments on bone in a patient with congenital aromatase deficiency. ( 19345749 )
2009
26
Aromatase deficiency in men: a clinical perspective. ( 19707181 )
2009
27
Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence. ( 19844120 )
2009
28
Metformin, estrogen replacement therapy and gonadotropin inhibition fail to improve insulin sensitivity in a girl with aromatase deficiency. ( 19844126 )
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
Recognizing rare disorders: aromatase deficiency. ( 17452968 )
2007
32
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
33
Estrogen and adiposity--utilizing models of aromatase deficiency to explore the relationship. ( 17643292 )
2007
34
Aromatase deficiency causes altered expression of molecules critical for calcium reabsorption in the kidneys of female mice *. ( 17708714 )
2007
35
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
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
Of mice and men: the evolving phenotype of aromatase deficiency. ( 16480891 )
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
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
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
A case of female pseudohermaphroditism caused by aromatase deficiency. ( 24790299 )
2004
43
Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment. ( 14715828 )
2004
44
[Aromatase deficiency]. ( 14968547 )
2004
45
Neurological effects of aromatase deficiency in the mouse. ( 14623532 )
2003
46
Bilateral osteonecrosis of the femoral head in an adult man affected by congenital estrogen deficiency. ( 14669833 )
2003
47
Pituitary function in a man with congenital aromatase deficiency: effect of different doses of transdermal E2 on basal and stimulated pituitary hormones. ( 12050263 )
2002
48
Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene. ( 12466340 )
2002
49
Congenital estrogen deficiency in men: a new syndrome with different phenotypes; clinical and therapeutic implications in men. ( 12160998 )
2002
50
[Estrogen resistance and aromatase deficiency in humans]. ( 12462077 )
2002

Variations for Aromatase Deficiency

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

76
# 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 109)
# 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.1303C> T (p.Arg435Cys) single nucleotide variant Pathogenic rs121434534 GRCh38 Chromosome 15, 51211017: 51211017
3 CYP19A1 NM_031226.2(CYP19A1): c.1310G> A (p.Cys437Tyr) single nucleotide variant Pathogenic rs78310315 GRCh37 Chromosome 15, 51503207: 51503207
4 CYP19A1 NM_031226.2(CYP19A1): c.1310G> A (p.Cys437Tyr) single nucleotide variant Pathogenic rs78310315 GRCh38 Chromosome 15, 51211010: 51211010
5 CYP19A1 NM_031226.2(CYP19A1): c.743+2T> C single nucleotide variant Pathogenic rs786205107 GRCh38 Chromosome 15, 51218539: 51218539
6 CYP19A1 NM_031226.2(CYP19A1): c.743+2T> C single nucleotide variant Pathogenic rs786205107 GRCh37 Chromosome 15, 51510736: 51510736
7 CYP19A1 NM_031226.2(CYP19A1): c.1123C> T (p.Arg375Cys) single nucleotide variant Pathogenic rs121434536 GRCh37 Chromosome 15, 51504657: 51504657
8 CYP19A1 NM_031226.2(CYP19A1): c.1123C> T (p.Arg375Cys) single nucleotide variant Pathogenic rs121434536 GRCh38 Chromosome 15, 51212460: 51212460
9 CYP19A1 NM_031226.2(CYP19A1): c.1224delC (p.Lys409Asnfs) deletion Pathogenic rs786205108 GRCh38 Chromosome 15, 51212359: 51212359
10 CYP19A1 NM_031226.2(CYP19A1): c.1224delC (p.Lys409Asnfs) deletion Pathogenic rs786205108 GRCh37 Chromosome 15, 51504556: 51504556
11 CYP19A1 NM_031226.2(CYP19A1): c.296+1G> A single nucleotide variant Pathogenic rs786205109 GRCh38 Chromosome 15, 51236858: 51236858
12 CYP19A1 NM_031226.2(CYP19A1): c.296+1G> A single nucleotide variant Pathogenic rs786205109 GRCh37 Chromosome 15, 51529055: 51529055
13 CYP19A1 NM_031226.2(CYP19A1): c.1094G> A (p.Arg365Gln) single nucleotide variant Pathogenic rs80051519 GRCh37 Chromosome 15, 51504686: 51504686
14 CYP19A1 NM_031226.2(CYP19A1): c.1094G> A (p.Arg365Gln) single nucleotide variant Pathogenic rs80051519 GRCh38 Chromosome 15, 51212489: 51212489
15 CYP19A1 CYP19A1, 1-BP DEL, C, CODON 156 deletion Pathogenic
16 CYP19A1 NM_031226.2(CYP19A1): c.629-3C> A single nucleotide variant Pathogenic rs786205110 GRCh38 Chromosome 15, 51218658: 51218658
17 CYP19A1 NM_031226.2(CYP19A1): c.629-3C> A single nucleotide variant Pathogenic rs786205110 GRCh37 Chromosome 15, 51510855: 51510855
18 CYP19A1 NM_031226.2(CYP19A1): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic rs121434538 GRCh37 Chromosome 15, 51514546: 51514546
19 CYP19A1 NM_031226.2(CYP19A1): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic rs121434538 GRCh38 Chromosome 15, 51222349: 51222349
20 CYP19A1 NM_031226.2(CYP19A1): c.790C> T (p.Arg264Cys) single nucleotide variant Benign/Likely benign rs700519 GRCh38 Chromosome 15, 51215771: 51215771
21 CYP19A1 NM_031226.2(CYP19A1): c.790C> T (p.Arg264Cys) single nucleotide variant Benign/Likely benign rs700519 GRCh37 Chromosome 15, 51507968: 51507968
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.*166T> A single nucleotide variant Uncertain significance rs181721810 GRCh38 Chromosome 15, 51210642: 51210642
24 CYP19A1 NM_031226.2(CYP19A1): c.*2170G> A single nucleotide variant Benign rs2255192 GRCh38 Chromosome 15, 51208638: 51208638
25 CYP19A1 NM_031226.2(CYP19A1): c.*2258_*2259insA insertion Benign rs3217422 GRCh37 Chromosome 15, 51500746: 51500747
26 CYP19A1 NM_031226.2(CYP19A1): c.*2258_*2259insA insertion Benign rs3217422 GRCh38 Chromosome 15, 51208549: 51208550
27 CYP19A1 NM_031226.2(CYP19A1): c.*483G> C single nucleotide variant Uncertain significance rs886051276 GRCh38 Chromosome 15, 51210325: 51210325
28 CYP19A1 NM_031226.2(CYP19A1): c.*483G> C single nucleotide variant Uncertain significance rs886051276 GRCh37 Chromosome 15, 51502522: 51502522
29 CYP19A1 NM_031226.2(CYP19A1): c.*166T> A single nucleotide variant Uncertain significance rs181721810 GRCh37 Chromosome 15, 51502839: 51502839
30 CYP19A1 NM_031226.2(CYP19A1): c.*2645dupC duplication Uncertain significance rs886051269 GRCh38 Chromosome 15, 51208163: 51208163
31 CYP19A1 NM_031226.2(CYP19A1): c.*2645dupC duplication Uncertain significance rs886051269 GRCh37 Chromosome 15, 51500360: 51500360
32 CYP19A1 NM_031226.2(CYP19A1): c.*1888A> G single nucleotide variant Benign rs4275794 GRCh38 Chromosome 15, 51208920: 51208920
33 CYP19A1 NM_031226.2(CYP19A1): c.*1888A> G single nucleotide variant Benign rs4275794 GRCh37 Chromosome 15, 51501117: 51501117
34 CYP19A1 NM_031226.2(CYP19A1): c.*1877T> G single nucleotide variant Uncertain significance rs886051273 GRCh38 Chromosome 15, 51208931: 51208931
35 CYP19A1 NM_031226.2(CYP19A1): c.*1877T> G single nucleotide variant Uncertain significance rs886051273 GRCh37 Chromosome 15, 51501128: 51501128
36 CYP19A1 NM_031226.2(CYP19A1): c.*1608C> T single nucleotide variant Uncertain significance rs781782351 GRCh38 Chromosome 15, 51209200: 51209200
37 CYP19A1 NM_031226.2(CYP19A1): c.*1608C> T single nucleotide variant Uncertain significance rs781782351 GRCh37 Chromosome 15, 51501397: 51501397
38 CYP19A1 NM_031226.2(CYP19A1): c.*460G> C single nucleotide variant Uncertain significance rs28757208 GRCh38 Chromosome 15, 51210348: 51210348
39 CYP19A1 NM_031226.2(CYP19A1): c.*460G> C single nucleotide variant Uncertain significance rs28757208 GRCh37 Chromosome 15, 51502545: 51502545
40 CYP19A1 NM_031226.2(CYP19A1): c.*191C> A single nucleotide variant Uncertain significance rs190403648 GRCh38 Chromosome 15, 51210617: 51210617
41 CYP19A1 NM_031226.2(CYP19A1): c.*191C> A single nucleotide variant Uncertain significance rs190403648 GRCh37 Chromosome 15, 51502814: 51502814
42 CYP19A1 NM_031226.2(CYP19A1): c.1378G> A (p.Val460Met) single nucleotide variant Uncertain significance rs372500474 GRCh38 Chromosome 15, 51210942: 51210942
43 CYP19A1 NM_031226.2(CYP19A1): c.1378G> A (p.Val460Met) single nucleotide variant Uncertain significance rs372500474 GRCh37 Chromosome 15, 51503139: 51503139
44 CYP19A1 NM_031226.2(CYP19A1): c.953T> C (p.Met318Thr) single nucleotide variant Uncertain significance rs143839949 GRCh38 Chromosome 15, 51215138: 51215138
45 CYP19A1 NM_031226.2(CYP19A1): c.953T> C (p.Met318Thr) single nucleotide variant Uncertain significance rs143839949 GRCh37 Chromosome 15, 51507335: 51507335
46 CYP19A1 NM_031226.2(CYP19A1): c.186C> T (p.His62=) single nucleotide variant Benign/Likely benign rs60308277 GRCh38 Chromosome 15, 51236969: 51236969
47 CYP19A1 NM_031226.2(CYP19A1): c.186C> T (p.His62=) single nucleotide variant Benign/Likely benign rs60308277 GRCh37 Chromosome 15, 51529166: 51529166
48 CYP19A1 NM_031226.2(CYP19A1): c.115T> C (p.Trp39Arg) single nucleotide variant Likely benign rs2236722 GRCh38 Chromosome 15, 51242798: 51242798
49 CYP19A1 NM_031226.2(CYP19A1): c.115T> C (p.Trp39Arg) single nucleotide variant Likely benign rs2236722 GRCh37 Chromosome 15, 51534995: 51534995
50 CYP19A1 NM_031226.2(CYP19A1): c.-59C> A single nucleotide variant Likely benign rs28757082 GRCh38 Chromosome 15, 51323836: 51323836

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:

38
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140
2 Ovarian steroidogenesis hsa04913

Pathways related to Aromatase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 ESR1 GH1 INS PRKAA2
2 10.65 TRPV5 TRPV6
3 10.48 ESR1 SLC8A1 TRPV5
4 9.56 CYP19A1 ESR1

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 11)
# 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 9.58 SLC8A1 TRPV5 TRPV6
3 response to testosterone GO:0033574 9.49 BGLAP GNRH1
4 positive regulation of glycolytic process GO:0045821 9.46 INS PRKAA2
5 uterus development GO:0060065 9.43 CYP19A1 ESR1
6 androgen metabolic process GO:0008209 9.37 CYP19A1 ESR1
7 fatty acid homeostasis GO:0055089 9.32 INS PRKAA2
8 calcium ion transport into cytosol GO:0060402 9.26 SLC8A1 TRPV5
9 vagina development GO:0060068 9.16 ESR1 LRP2
10 calcium ion import across plasma membrane GO:0098703 8.96 TRPV5 TRPV6
11 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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