AROD
MCID: ARM001
MIFTS: 54

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 56 74 52 25 58 73 36 29 13 6 39 71
Congenital Estrogen Deficiency 52 58
Placental Aromatase Deficiency 25 71
46,xx Disorder of Sex Development Due to Placental Aromatase Deficiency 25
Pseudohermaphroditism, Female, Due to Placental Aromatase Deficiency 56
Pseudohermaphroditism Female Due to Placental Aromatase Deficiency 73
46, Xx Disorders of Sex Development 43
Oestrogen Synthetase Deficiency 25
Estrogen Synthetase Deficiency 25
Arod 73

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 613546
KEGG 36 H02020
MESH via Orphanet 44 C537436
ICD10 via Orphanet 33 E25.8
UMLS via Orphanet 72 C0853662 C0878680 C1960539
Orphanet 58 ORPHA91
UMLS 71 C1960539 C1960540

Summaries for Aromatase Deficiency

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 91 Definition A rare disorder that 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. Epidemiology Fewer than 20 cases have been reported to date. Clinical description Affected 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. Etiology Aromatase (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 methods Females 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 diagnosis In 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 diagnosis During 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 counseling Genetic testing is recommended for families who have had one affected child, transmission is autosomal recessive . Management and treatment Female 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 ?g 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 ?g daily. Hypocaloric diet should be complemented with calcium, vitamin D and physical activity. Dyslipidemia, glucose intolerance or insulin resistance must be treated symptomatically. Prognosis Lifetime 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 lipoid congenital adrenal hyperplasia and amenorrhea. 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 bone, breast and ovary, and related phenotypes are delayed skeletal maturation 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. Females with aromatase deficiency have a typical female chromosome pattern (46,XX) but are born with external genitalia that do not appear clearly female or male (ambiguous genitalia). These individuals typically have normal internal reproductive organs, but develop ovarian cysts early in childhood, which impair the release of egg cells from the ovaries (ovulation). In adolescence, most affected females do not develop secondary sexual characteristics, such as breast growth and menstrual periods. They tend to develop acne and excessive body hair growth (hirsutism). Men with this condition have a typical male chromosome pattern (46,XY) and are born with male external genitalia. Some men with this condition have decreased sex drive, abnormal sperm production, or testes that are small or undescended (cryptorchidism). There are other features associated with aromatase deficiency that can affect both males and females. Affected individuals are abnormally tall because of excessive growth of long bones in the arms and legs. The abnormal bone growth results in slowed mineralization of bones (delayed bone age) and thinning of the bones (osteoporosis), which can lead to bone fractures with little trauma. Males and females with aromatase deficiency can have abnormally high blood sugar (hyperglycemia) because the body does not respond correctly to the hormone insulin. In addition, they can have excessive weight gain and a fatty liver. Women who are pregnant with fetuses that have aromatase deficiency often experience mild symptoms of the disorder even though they themselves do not have the disorder. These women may develop hirsutism, acne, an enlarged clitoris (clitoromegaly), and a deep voice. These features can appear as early as 12 weeks of pregnancy and go away soon after delivery.

OMIM : 56 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)

KEGG : 36 Aromatase deficiency is a rare autosomal recessive syndrome, caused by mutations in CYP19A1 gene. Aromatase, encoded by the CYP19A1, catalyses the biosynthesis of estrogens. Due to estrogen deficiency, disorders of sex development and progressive virilization at puberty develop in females. In the males, prepubertal development is normal. Delayed epiphyseal closure, eunuchoid body habitus, osteopenia, and osteoporosis develop in both genders.

UniProtKB/Swiss-Prot : 73 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 : 74 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 107)
# Related Disease Score Top Affiliating Genes
1 lipoid congenital adrenal hyperplasia 30.5 INS GNRH1 CYP19A1
2 amenorrhea 30.1 INS GNRH1 CYP19A1 BGLAP
3 bone resorption disease 29.9 INS ESR1 CYP19A1 BGLAP
4 hyperandrogenism 29.8 INS GNRH1 GH1 CYP19A1
5 disorders of sexual development 29.7 INS GNRH1 ESR1 CYP19A1
6 polycystic ovary syndrome 29.6 INS GNRH1 GH1 CYP19A1
7 hyperinsulinism 29.5 INS GNRH1 GH1
8 premature ovarian failure 1 29.4 INS GNRH1 ESR1 CYP19A1
9 glucose intolerance 29.3 INS GH1 ESR1
10 osteoporosis 29.0 INS GNRH1 GH1 ESR1 CYP19A1 BGLAP
11 insulin-like growth factor i 28.9 LRP2 INS GH1 ESR1 BGLAP
12 nephrolithiasis 28.7 TRPV5 LRP2 INS BGLAP
13 estrogen resistance 11.6
14 typhoid fever 10.5
15 postmenopausal atrophic vaginitis 10.3 ESR1 CYP19A1
16 mammographic density 10.3 ESR1 CYP19A1
17 tetanus 10.3
18 keratoconjunctivitis 10.3
19 juvenile nasopharyngeal angiofibroma 10.3 ESR1 CYP19A1
20 gender identity disorder 10.3 ESR1 CYP19A1
21 protein-deficiency anemia 10.3 INS GH1
22 progesterone-receptor positive breast cancer 10.3 ESR1 CYP19A1
23 luteoma 10.3 GNRH1 CYP19A1
24 infertility due to extratesticular cause 10.3 GNRH1 ESR1
25 marasmus 10.2 INS GH1
26 hypertrophy of breast 10.2 ESR1 CYP19A1
27 precocious puberty, male-limited 10.2 GNRH1 CYP19A1
28 central precocious puberty 10.2 GNRH1 GH1
29 aromatase excess syndrome 10.2 ESR1 CYP19A1
30 dysentery 10.2
31 shigellosis 10.2
32 hemolytic-uremic syndrome 10.2
33 diarrhea 10.2
34 hypogonadism 10.2
35 adenomyoma 10.2 GNRH1 ESR1
36 hyperpituitarism 10.1 INS GH1
37 neurofibromatosis, type ii 10.1
38 fatty liver disease, nonalcoholic 1 10.1
39 autosomal recessive disease 10.1
40 steroid inherited metabolic disorder 10.1 INS GNRH1 CYP19A1
41 achondroplasia 10.1
42 mccune-albright syndrome 10.1 GH1 CYP19A1 BGLAP
43 ovarian hyperstimulation syndrome 10.1 INS GNRH1 CYP19A1
44 estrogen excess 10.1 GNRH1 ESR1 CYP19A1
45 anovulation 10.1 INS GNRH1 CYP19A1
46 vaginal discharge 10.1 GNRH1 ESR1 CYP19A1
47 endometriosis of ovary 10.1 GNRH1 ESR1 CYP19A1
48 endometrial disease 10.1 GNRH1 ESR1 CYP19A1
49 premature menopause 10.1 GNRH1 CYP19A1
50 pseudohermaphroditism 10.1

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:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
3 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
4 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
5 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
6 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
7 female infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0008222
8 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
9 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
10 hyperlipidemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003077
11 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
12 enlarged polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%) HP:0008675
13 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
14 hypergonadotropic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000815
15 female pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0010458
16 male infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0003251
17 eunuchoid habitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003782
18 ambiguous genitalia, female 58 31 hallmark (90%) Very frequent (99-80%) HP:0000061
19 maternal virilization in pregnancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008072
20 delayed epiphyseal ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0002663
21 type ii diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0005978
22 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
23 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
24 acanthosis nigricans 58 31 frequent (33%) Frequent (79-30%) HP:0000956
25 insulin resistance 58 31 frequent (33%) Frequent (79-30%) HP:0000855
26 macroorchidism, postpubertal 58 31 frequent (33%) Frequent (79-30%) HP:0002050
27 ovarian cyst 31 HP:0000138

Clinical features from OMIM:

613546

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 9.92 ESR1 PRKAA2 TRPV5 TRPV6
2 Decreased viability GR00221-A-2 9.92 ESR1 PRKAA2 TRPV6
3 Decreased viability GR00221-A-3 9.92 PRKAA2 TRPV6
4 Decreased viability GR00221-A-4 9.92 ESR1 PRKAA2 TRPV5 TRPV6
5 Decreased viability GR00249-S 9.92 PRKAA2
6 Decreased viability GR00301-A 9.92 TRPV5
7 Decreased viability GR00342-S-1 9.92 PRKAA2
8 Decreased viability GR00386-A-1 9.92 ESR1
9 Decreased viability GR00402-S-2 9.92 ESR1 PRKAA2 TRPV6

MGI Mouse Phenotypes related to Aromatase Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 BGLAP CYP19A1 ESR1 INS LRP2 PRKAA2
2 digestive/alimentary MP:0005381 9.7 CYP19A1 ESR1 GNRH1 INS LRP2 SLC8A1
3 endocrine/exocrine gland MP:0005379 9.56 BGLAP CYP19A1 ESR1 GNRH1 INS LRP2
4 renal/urinary system MP:0005367 9.17 CYP19A1 ESR1 GNRH1 INS LRP2 PRKAA2

Drugs & Therapeutics for Aromatase Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Uterus Transplantation From a Multi-organ Donor: A Prospective Trial Recruiting NCT03252795
2 Feasibility Study of Uterine Transplantation From Living Donors in Terms of Efficacy and Safety in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) Recruiting NCT03689842
3 Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser Recruiting NCT02967822

Search 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:

40
Bone, Breast, Ovary, Testes, Liver, Placenta, Adrenal Gland

Publications for Aromatase Deficiency

Articles related to Aromatase Deficiency:

(show top 50) (show all 173)
# Title Authors PMID Year
1
Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment. 61 56 6
14715828 2004
2
Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency. 56 61 6
9718379 1998
3
Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. 56 6 61
8530621 1995
4
Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. 61 56 6
8265607 1993
5
A new cause of female pseudohermaphroditism: placental aromatase deficiency. 56 6 61
1825497 1991
6
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. 56 61
17164303 2007
7
Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene. 6 61
12466340 2002
8
Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. 6 61
10566648 1999
9
Effect of testosterone and estradiol in a man with aromatase deficiency. 6 61
9211678 1997
10
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. 6 61
9177373 1997
11
Clinical review 78: Aromatase deficiency in women and men: would you have predicted the phenotypes? 56 61
8772541 1996
12
A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). 61 56
8200927 1994
13
Genetic studies to characterize the origin of the mutation in placental aromatase deficiency. 61 6
1496995 1992
14
Biochemical and molecular genetic analyses on placental aromatase (P-450AROM) deficiency. 56 61
1371509 1992
15
Increased adipose tissue in male and female estrogen receptor-alpha knockout mice. 56
11070086 2000
16
Aromatase-deficient (ArKO) mice have a phenotype of increased adiposity. 56
11070087 2000
17
Impairment of spermatogenesis in mice lacking a functional aromatase (cyp 19) gene. 56
10393934 1999
18
Characterization of mice deficient in aromatase (ArKO) because of targeted disruption of the cyp19 gene. 56
9618522 1998
19
Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. 56
8090165 1994
20
Inheritance of the henny feathering trait in the golden Campine chicken: evidence for allelism with the gene that causes henny feathering in the Sebright bantam. 56
2338489 1990
21
Cloning of a complete cDNA encoding human aromatase: immunochemical identification and sequence analysis. 6
2973313 1988
22
Increased estrogen formation and aromatase activity in fibroblasts cultured from the skin of chickens with the Henny feathering trait. 56
7217085 1981
23
Increased estrogen synthesis in the Sebright bantam is due to a mutation that causes increased aromatase activity. 56
7344234 1981
24
Four cases of pregnancy with low estrogen production due to placental enzymatic deficiency. 56
162557 1978
25
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype. 61
32060549 2020
26
Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function. 61
32318648 2020
27
Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene 61
30968679 2020
28
Aromatase deficiency in hematopoietic cells improves glucose tolerance in male mice through skeletal muscle-specific effects. 61
31971970 2020
29
Child with '46, XX' disorder of sex development: clues to diagnose aromatase deficiency. 61
31801784 2019
30
Higher Insulin Resistance and Adiposity in Postmenopausal Women With Breast Cancer Treated With Aromatase Inhibitors. 61
30920624 2019
31
46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features. 61
31533357 2019
32
Aromatase deficiency: a rare cause of maternal virilisation and ambiguous genitalia in neonates. 61
31208983 2019
33
A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation 61
30074481 2019
34
Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective. 61
30550360 2019
35
Maternal exposure to imazalil disrupts the endocrine system in F1 generation mice. 61
30853599 2019
36
Altered umbilical sex steroids in preterm infants born small for gestational age. 61
30895831 2019
37
Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene 61
29553041 2018
38
Abnormal steroidogenesis and aromatase activity in preeclampsia. 61
30213483 2018
39
Impact of aromatase absence on murine intraocular pressure and retinal ganglion cells. 61
29459742 2018
40
Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient. 61
30173221 2018
41
Gestational Hyperandrogenism in Developmental Programming. 61
27967205 2017
42
Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia. 61
29324451 2017
43
THE EFFECTS OF MATERNAL HYPOTHYROIDISM ON THE IMMUNOREACTIVITY OF CYTOCHROME P450 AROMATASE IN THE POSTNATAL RAT TESTICLES. 61
31149142 2017
44
Aromatase deficiency in a male patient - Case report and review of the literature. 61
27693882 2016
45
Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization. 61
27256151 2016
46
A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans. 61
27086564 2016
47
Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement. 61
25585547 2015
48
Myocardial and cardiomyocyte stress resilience is enhanced in aromatase-deficient female mouse hearts through CaMKIIδ activation. 61
25625588 2015
49
Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect. 61
25415177 2015
50
An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues. 61
26279340 2015

Variations for Aromatase Deficiency

ClinVar genetic disease variations for Aromatase Deficiency:

6 (show top 50) (show all 100) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP19A1 NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr)SNV Pathogenic 17816 rs78310315 15:51503207-51503207 15:51211010-51211010
2 CYP19A1 NM_000103.4(CYP19A1):c.743+2T>CSNV Pathogenic 17817 rs786205107 15:51510736-51510736 15:51218539-51218539
3 CYP19A1 NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys)SNV Pathogenic 17818 rs121434536 15:51504657-51504657 15:51212460-51212460
4 CYP19A1 NM_000103.4(CYP19A1):c.1224del (p.Lys409fs)deletion Pathogenic 17819 rs786205108 15:51504556-51504556 15:51212359-51212359
5 CYP19A1 NM_000103.4(CYP19A1):c.296+1G>ASNV Pathogenic 17820 rs786205109 15:51529055-51529055 15:51236858-51236858
6 CYP19A1 NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln)SNV Pathogenic 17821 rs80051519 15:51504686-51504686 15:51212489-51212489
7 CYP19A1 CYP19A1, 1-BP DEL, C, CODON 156deletion Pathogenic 17822
8 CYP19A1 NM_000103.4(CYP19A1):c.629-3C>ASNV Pathogenic 17823 rs786205110 15:51510855-51510855 15:51218658-51218658
9 CYP19A1 NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys)SNV Pathogenic 17826 rs121434538 15:51514546-51514546 15:51222349-51222349
10 CYP19A1 NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys)SNV Likely pathogenic 17815 rs121434534 15:51503214-51503214 15:51211017-51211017
11 CYP19A1 NM_000103.4(CYP19A1):c.*161T>GSNV drug response 316467 rs4646 15:51502844-51502844 15:51210647-51210647
12 CYP19A1 NM_000103.4(CYP19A1):c.629-16dupduplication Conflicting interpretations of pathogenicity 316474 rs750758078 15:51510859-51510860 15:51218662-51218663
13 CYP19A1 NM_000103.4(CYP19A1):c.501C>A (p.Ser167=)SNV Conflicting interpretations of pathogenicity 749543 15:51514673-51514673 15:51222476-51222476
14 CYP19A1 NM_000103.4(CYP19A1):c.465C>T (p.Pro155=)SNV Conflicting interpretations of pathogenicity 766660 15:51514709-51514709 15:51222512-51222512
15 CYP19A1 NM_000103.4(CYP19A1):c.24G>A (p.Pro8=)SNV Conflicting interpretations of pathogenicity 765780 15:51535086-51535086 15:51242889-51242889
16 CYP19A1 NM_000103.4(CYP19A1):c.*2086G>ASNV Uncertain significance 884246 15:51500919-51500919 15:51208722-51208722
17 CYP19A1 NM_000103.4(CYP19A1):c.*2067T>GSNV Uncertain significance 884247 15:51500938-51500938 15:51208741-51208741
18 CYP19A1 NM_000103.4(CYP19A1):c.*1889A>TSNV Uncertain significance 886275 15:51501116-51501116 15:51208919-51208919
19 CYP19A1 NM_000103.4(CYP19A1):c.*1888A>TSNV Uncertain significance 886276 15:51501117-51501117 15:51208920-51208920
20 CYP19A1 NM_000103.4(CYP19A1):c.*1878T>CSNV Uncertain significance 886277 15:51501127-51501127 15:51208930-51208930
21 CYP19A1 NM_000103.4(CYP19A1):c.*1833C>ASNV Uncertain significance 886278 15:51501172-51501172 15:51208975-51208975
22 CYP19A1 NM_000103.4(CYP19A1):c.*1545G>TSNV Uncertain significance 887272 15:51501460-51501460 15:51209263-51209263
23 CYP19A1 NM_000103.4(CYP19A1):c.*1441G>ASNV Uncertain significance 887273 15:51501564-51501564 15:51209367-51209367
24 CYP19A1 NM_000103.4(CYP19A1):c.*2607A>GSNV Uncertain significance 887217 15:51500398-51500398 15:51208201-51208201
25 CYP19A1 NM_000103.4(CYP19A1):c.*2589C>ASNV Uncertain significance 888469 15:51500416-51500416 15:51208219-51208219
26 CYP19A1 NM_000103.4(CYP19A1):c.*2536C>TSNV Uncertain significance 888470 15:51500469-51500469 15:51208272-51208272
27 CYP19A1 NM_000103.4(CYP19A1):c.*2519T>CSNV Uncertain significance 888471 15:51500486-51500486 15:51208289-51208289
28 CYP19A1 NM_000103.4(CYP19A1):c.*2497T>CSNV Uncertain significance 888472 15:51500508-51500508 15:51208311-51208311
29 CYP19A1 NM_000103.4(CYP19A1):c.*2126G>ASNV Uncertain significance 884245 15:51500879-51500879 15:51208682-51208682
30 CYP19A1 NM_000103.4(CYP19A1):c.*1381C>TSNV Uncertain significance 887274 15:51501624-51501624 15:51209427-51209427
31 CYP19A1 NM_000103.4(CYP19A1):c.*1364C>TSNV Uncertain significance 887275 15:51501641-51501641 15:51209444-51209444
32 CYP19A1 NM_000103.4(CYP19A1):c.-39+1G>ASNV Uncertain significance 631737 rs956997586 15:51630691-51630691 15:51338494-51338494
33 CYP19A1 NM_000103.4(CYP19A1):c.*646C>GSNV Uncertain significance 888528 15:51502359-51502359 15:51210162-51210162
34 CYP19A1 NM_000103.4(CYP19A1):c.*240C>ASNV Uncertain significance 884314 15:51502765-51502765 15:51210568-51210568
35 CYP19A1 NM_000103.4(CYP19A1):c.*125T>CSNV Uncertain significance 884315 15:51502880-51502880 15:51210683-51210683
36 CYP19A1 NM_000103.4(CYP19A1):c.*78G>TSNV Uncertain significance 884316 15:51502927-51502927 15:51210730-51210730
37 CYP19A1 NM_000103.4(CYP19A1):c.1488C>T (p.Asn496=)SNV Uncertain significance 886338 15:51503029-51503029 15:51210832-51210832
38 CYP19A1 NM_000103.4(CYP19A1):c.1230C>T (p.Pro410=)SNV Uncertain significance 886339 15:51504550-51504550 15:51212353-51212353
39 CYP19A1 NM_000103.4(CYP19A1):c.924T>G (p.Pro308=)SNV Uncertain significance 887333 15:51507364-51507364 15:51215167-51215167
40 CYP19A1 NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn)SNV Uncertain significance 887334 15:51510760-51510760 15:51218563-51218563
41 CYP19A1 NM_000103.4(CYP19A1):c.357A>C (p.Lys119Asn)SNV Uncertain significance 887525 15:51520070-51520070 15:51227873-51227873
42 CYP19A1 NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=)SNV Uncertain significance 887526 15:51520091-51520091 15:51227894-51227894
43 CYP19A1 NM_000103.4(CYP19A1):c.242A>G (p.Tyr81Cys)SNV Uncertain significance 887527 15:51529110-51529110 15:51236913-51236913
44 CYP19A1 NM_000103.4(CYP19A1):c.-39+14646C>TSNV Uncertain significance 884372 15:51616046-51616046 15:51323849-51323849
45 CYP19A1 NM_000103.4(CYP19A1):c.-39+14640A>GSNV Uncertain significance 884373 15:51616052-51616052 15:51323855-51323855
46 CYP19A1 NM_000103.4(CYP19A1):c.-118G>ASNV Uncertain significance 884374 15:51630771-51630771 15:51338574-51338574
47 CYP19A1 NM_000103.4(CYP19A1):c.*2645dupduplication Uncertain significance 316440 rs886051269 15:51500359-51500360 15:51208162-51208163
48 CYP19A1 NM_000103.4(CYP19A1):c.*1877T>GSNV Uncertain significance 316452 rs886051273 15:51501128-51501128 15:51208931-51208931
49 CYP19A1 NM_000103.4(CYP19A1):c.*1608C>TSNV Uncertain significance 316453 rs781782351 15:51501397-51501397 15:51209200-51209200
50 CYP19A1 NM_000103.4(CYP19A1):c.*483G>CSNV Uncertain significance 316461 rs886051276 15:51502522-51502522 15:51210325-51210325

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

73
# 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

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 PRKAA2 INS GH1 ESR1
2 10.86 TRPV5 SLC8A1 ESR1
3 10.65 TRPV6 TRPV5
4 9.23 ESR1 CYP19A1

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 9.35 SLC8A1 PRKAA2 LRP2 GNRH1 BGLAP
2 endosome lumen GO:0031904 8.8 LRP2 INS GH1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.69 LRP2 INS ESR1
2 calcium ion transport GO:0006816 9.65 TRPV6 TRPV5 SLC8A1
3 calcium ion transmembrane transport GO:0070588 9.63 TRPV6 TRPV5 SLC8A1
4 response to estradiol GO:0032355 9.5 GH1 ESR1 CYP19A1
5 positive regulation of glycolytic process GO:0045821 9.49 PRKAA2 INS
6 uterus development GO:0060065 9.43 ESR1 CYP19A1
7 fatty acid homeostasis GO:0055089 9.4 PRKAA2 INS
8 androgen metabolic process GO:0008209 9.37 ESR1 CYP19A1
9 calcium ion import across plasma membrane GO:0098703 9.26 TRPV6 TRPV5
10 calcium ion transport into cytosol GO:0060402 9.16 TRPV5 SLC8A1
11 vagina development GO:0060068 8.96 LRP2 ESR1
12 calcium ion homeostasis GO:0055074 8.8 TRPV6 TRPV5 SLC8A1

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.61 TRPV6 TRPV5 SLC8A1 PRKAA2 LRP2 GH1
2 hormone activity GO:0005179 8.8 INS GNRH1 GH1

Sources for Aromatase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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