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 57 73 20 43 58 72 36 29 13 6 39 70
Congenital Estrogen Deficiency 20 58
Placental Aromatase Deficiency 43 70
46,xx Disorder of Sex Development Due to Placental Aromatase Deficiency 43
Pseudohermaphroditism, Female, Due to Placental Aromatase Deficiency 57
Pseudohermaphroditism Female Due to Placental Aromatase Deficiency 72
46, Xx Disorders of Sex Development 44
Oestrogen Synthetase Deficiency 43
Estrogen Synthetase Deficiency 43
Arod 72

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® 57 613546
KEGG 36 H02020
MESH via Orphanet 45 C537436
ICD10 via Orphanet 33 E25.8
UMLS via Orphanet 71 C0853662 C0878680 C1960539
Orphanet 58 ORPHA91
UMLS 70 C1960539 C1960540

Summaries for Aromatase Deficiency

GARD : 20 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.

MalaCards based summary : Aromatase Deficiency, also known as congenital estrogen deficiency, is related to pseudohermaphroditism and cryptorchidism, unilateral or bilateral. 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, placenta and testes, and related phenotypes are osteopenia and delayed skeletal maturation

MedlinePlus Genetics : 43 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 (%%PX0000U8osteoporosis%%), 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® : 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) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 112)
# Related Disease Score Top Affiliating Genes
1 pseudohermaphroditism 30.4 PIRC66 MIR4713HG CYP19A1
2 cryptorchidism, unilateral or bilateral 30.1 INS GNRH1 ESR1 CYP19A1
3 amenorrhea 30.1 INS GNRH1 CYP19A1 BGLAP
4 hyperandrogenism 30.0 INS GNRH1 CYP19A1
5 bone resorption disease 30.0 INS ESR1 CYP19A1 BGLAP
6 aromatase excess syndrome 29.9 PIRC66 MIR4713HG INS GNRH1 ESR1 CYP19A1
7 disorder of sexual development 29.8 INS GNRH1 ESR1 CYP19A1
8 hyperinsulinism 29.8 INS GNRH1 GH1
9 glucose intolerance 29.7 INS GH1 ESR1
10 polycystic ovary syndrome 29.6 INS GNRH1 GH1 CYP19A1
11 premature menopause 29.2 PIRC66 MIR4713HG INS GNRH1 ESR1 CYP19A1
12 insulin-like growth factor i 29.2 LRP2 INS GH1 ESR1 BGLAP
13 nephrolithiasis 29.1 TRPV5 LRP2 INS BGLAP
14 estrogen resistance 11.1
15 cytochrome p450 oxidoreductase deficiency 11.1
16 lipoid congenital adrenal hyperplasia 10.3
17 typhoid fever 10.3
18 mammographic density 10.3 ESR1 CYP19A1
19 diffuse peritoneal leiomyomatosis 10.3 GNRH1 CYP19A1
20 protein-deficiency anemia 10.2 INS GH1
21 gender identity disorder 10.2 ESR1 CYP19A1
22 juvenile nasopharyngeal angiofibroma 10.2 ESR1 CYP19A1
23 progesterone-receptor positive breast cancer 10.2 ESR1 CYP19A1
24 diencephalic astrocytoma 10.2 INS GH1
25 hypogonadism 10.2
26 marasmus 10.2 INS GH1
27 hypertrophy of breast 10.2 ESR1 CYP19A1
28 pituitary infarct 10.2 INS GNRH1
29 postmenopausal atrophic vaginitis 10.2 GNRH1 ESR1
30 diaphragmatic hernia, congenital 10.2
31 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 10.2
32 androgen insensitivity syndrome 10.2
33 branchiootic syndrome 1 10.2
34 perrault syndrome 10.2
35 complete androgen insensitivity syndrome 10.2
36 azoospermia 10.2
37 gonadal dysgenesis 10.2
38 ovarian cyst 10.2
39 acne 10.2
40 hyperpituitarism 10.1 INS GH1
41 mixed cell adenoma 10.1 GNRH1 ESR1
42 central precocious puberty 10.1 GNRH1 GH1
43 autosomal recessive disease 10.1
44 ovarian hyperstimulation syndrome 10.1 INS GNRH1 CYP19A1
45 anovulation 10.1 INS GNRH1 CYP19A1
46 vaginal discharge 10.1 GNRH1 ESR1 CYP19A1
47 mccune-albright syndrome 10.1 GH1 CYP19A1 BGLAP
48 estrogen excess 10.1 GNRH1 ESR1 CYP19A1
49 steroid inherited metabolic disorder 10.1 INS GNRH1
50 endometriosis of ovary 10.1 GNRH1 ESR1 CYP19A1

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 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
2 delayed skeletal maturation 58 31 very rare (1%) Very frequent (99-80%) HP:0002750
3 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
4 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
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 male infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0003251
16 female pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0010458
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 (Updated 05-Apr-2021)

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:

46
# 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 Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser Recruiting NCT02967822
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 Uterus Transplantation From a Multi-organ Donor: A Prospective Trial Recruiting NCT03252795

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, Placenta, Testes, Pituitary, Uterus, Ovary, Skeletal Muscle

Publications for Aromatase Deficiency

Articles related to Aromatase Deficiency:

(show top 50) (show all 176)
# 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 57 6
14715828 2004
2
Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency. 61 6 57
9718379 1998
3
Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. 57 6 61
8530621 1995
4
Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. 61 57 6
8265607 1993
5
A new cause of female pseudohermaphroditism: placental aromatase deficiency. 6 61 57
1825497 1991
6
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. 57 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. 61 6
12466340 2002
8
Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. 61 6
10566648 1999
9
Effect of testosterone and estradiol in a man with aromatase deficiency. 61 6
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? 57 61
8772541 1996
12
A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). 57 61
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. 61 57
1371509 1992
15
Aromatase-deficient (ArKO) mice have a phenotype of increased adiposity. 57
11070087 2000
16
Increased adipose tissue in male and female estrogen receptor-alpha knockout mice. 57
11070086 2000
17
Impairment of spermatogenesis in mice lacking a functional aromatase (cyp 19) gene. 57
10393934 1999
18
Characterization of mice deficient in aromatase (ArKO) because of targeted disruption of the cyp19 gene. 57
9618522 1998
19
Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. 57
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. 57
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. 57
7217085 1981
23
Increased estrogen synthesis in the Sebright bantam is due to a mutation that causes increased aromatase activity. 57
7344234 1981
24
Four cases of pregnancy with low estrogen production due to placental enzymatic deficiency. 57
162557 1978
25
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes. 61
33516834 2021
26
Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature. 61
32623730 2020
27
Altered umbilical sex steroids in preterm infants born small for gestational age. 61
30895831 2020
28
Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function. 61
32318648 2020
29
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype. 61
32060549 2020
30
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
31
Aromatase deficiency in hematopoietic cells improves glucose tolerance in male mice through skeletal muscle-specific effects. 61
31971970 2020
32
A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue. 61
33108086 2020
33
Child with '46, XX' disorder of sex development: clues to diagnose aromatase deficiency. 61
31801784 2019
34
Higher Insulin Resistance and Adiposity in Postmenopausal Women With Breast Cancer Treated With Aromatase Inhibitors. 61
30920624 2019
35
46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features. 61
31533357 2019
36
Aromatase deficiency: a rare cause of maternal virilisation and ambiguous genitalia in neonates. 61
31208983 2019
37
A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation 61
30074481 2019
38
Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective. 61
30550360 2019
39
Maternal exposure to imazalil disrupts the endocrine system in F1 generation mice. 61
30853599 2019
40
Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene 61
29553041 2018
41
Abnormal steroidogenesis and aromatase activity in preeclampsia. 61
30213483 2018
42
Impact of aromatase absence on murine intraocular pressure and retinal ganglion cells. 61
29459742 2018
43
Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient. 61
30173221 2018
44
Gestational Hyperandrogenism in Developmental Programming. 61
27967205 2017
45
Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia. 61
29324451 2017
46
THE EFFECTS OF MATERNAL HYPOTHYROIDISM ON THE IMMUNOREACTIVITY OF CYTOCHROME P450 AROMATASE IN THE POSTNATAL RAT TESTICLES. 61
31149142 2017
47
Aromatase deficiency in a male patient - Case report and review of the literature. 61
27693882 2016
48
Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization. 61
27256151 2016
49
A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans. 61
27086564 2016
50
Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement. 61
25585547 2015

Variations for Aromatase Deficiency

ClinVar genetic disease variations for Aromatase Deficiency:

6 (show top 50) (show all 127)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr) SNV Pathogenic 17816 rs78310315 GRCh37: 15:51503207-51503207
GRCh38: 15:51211010-51211010
2 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.743+2T>C SNV Pathogenic 17817 rs786205107 GRCh37: 15:51510736-51510736
GRCh38: 15:51218539-51218539
3 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys) SNV Pathogenic 17818 rs121434536 GRCh37: 15:51504657-51504657
GRCh38: 15:51212460-51212460
4 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1224del (p.Lys409fs) Deletion Pathogenic 17819 rs786205108 GRCh37: 15:51504556-51504556
GRCh38: 15:51212359-51212359
5 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.296+1G>A SNV Pathogenic 17820 rs786205109 GRCh37: 15:51529055-51529055
GRCh38: 15:51236858-51236858
6 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln) SNV Pathogenic 17821 rs80051519 GRCh37: 15:51504686-51504686
GRCh38: 15:51212489-51212489
7 CYP19A1 CYP19A1, 1-BP DEL, C, CODON 156 Deletion Pathogenic 17822 GRCh37:
GRCh38:
8 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.629-3C>A SNV Pathogenic 17823 rs786205110 GRCh37: 15:51510855-51510855
GRCh38: 15:51218658-51218658
9 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys) SNV Pathogenic 17826 rs121434538 GRCh37: 15:51514546-51514546
GRCh38: 15:51222349-51222349
10 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1158C>A (p.Tyr386Ter) SNV Pathogenic 1030941 GRCh37: 15:51504622-51504622
GRCh38: 15:51212425-51212425
11 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) SNV Pathogenic/Likely pathogenic 17815 rs121434534 GRCh37: 15:51503214-51503214
GRCh38: 15:51211017-51211017
12 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1263+1G>T SNV Likely pathogenic 930859 GRCh37: 15:51504516-51504516
GRCh38: 15:51212319-51212319
13 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.*2607A>G SNV Uncertain significance 887217 GRCh37: 15:51500398-51500398
GRCh38: 15:51208201-51208201
14 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.*1545G>T SNV Uncertain significance 887272 GRCh37: 15:51501460-51501460
GRCh38: 15:51209263-51209263
15 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.*1441G>A SNV Uncertain significance 887273 GRCh37: 15:51501564-51501564
GRCh38: 15:51209367-51209367
16 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.*1381C>T SNV Uncertain significance 887274 GRCh37: 15:51501624-51501624
GRCh38: 15:51209427-51209427
17 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.*1364C>T SNV Uncertain significance 887275 GRCh37: 15:51501641-51501641
GRCh38: 15:51209444-51209444
18 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1387T>C (p.Leu463=) SNV Uncertain significance 795334 rs377327265 GRCh37: 15:51503130-51503130
GRCh38: 15:51210933-51210933
19 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1263+8C>A SNV Uncertain significance 736199 rs757404619 GRCh37: 15:51504509-51504509
GRCh38: 15:51212312-51212312
20 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1212C>A (p.Leu404=) SNV Uncertain significance 798914 rs772086882 GRCh37: 15:51504568-51504568
GRCh38: 15:51212371-51212371
21 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1113C>T (p.Asp371=) SNV Uncertain significance 738287 rs774007712 GRCh37: 15:51504667-51504667
GRCh38: 15:51212470-51212470
22 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1425C>T (p.His475=) SNV Uncertain significance 990252 GRCh37: 15:51503092-51503092
GRCh38: 15:51210895-51210895
23 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1353C>T (p.Leu451=) SNV Uncertain significance 794908 rs774940170 GRCh37: 15:51503164-51503164
GRCh38: 15:51210967-51210967
24 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1221C>T (p.Phe407=) SNV Uncertain significance 990905 GRCh37: 15:51504559-51504559
GRCh38: 15:51212362-51212362
25 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.1133T>C (p.Leu378Ser) SNV Uncertain significance 990906 GRCh37: 15:51504647-51504647
GRCh38: 15:51212450-51212450
26 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.907A>G (p.Met303Val) SNV Uncertain significance 990907 GRCh37: 15:51507381-51507381
GRCh38: 15:51215184-51215184
27 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.859-6G>T SNV Uncertain significance 990908 GRCh37: 15:51507435-51507435
GRCh38: 15:51215238-51215238
28 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn) SNV Uncertain significance 887334 GRCh37: 15:51510760-51510760
GRCh38: 15:51218563-51218563
29 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.501C>A (p.Ser167=) SNV Uncertain significance 749543 rs35900050 GRCh37: 15:51514673-51514673
GRCh38: 15:51222476-51222476
30 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.465C>T (p.Pro155=) SNV Uncertain significance 766660 rs146495071 GRCh37: 15:51514709-51514709
GRCh38: 15:51222512-51222512
31 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.637A>G (p.Ile213Val) SNV Uncertain significance 990910 GRCh37: 15:51510844-51510844
GRCh38: 15:51218647-51218647
32 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.625G>A (p.Asp209Asn) SNV Uncertain significance 990911 GRCh37: 15:51514549-51514549
GRCh38: 15:51222352-51222352
33 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.493G>A (p.Ala165Thr) SNV Uncertain significance 990912 GRCh37: 15:51514681-51514681
GRCh38: 15:51222484-51222484
34 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.467G>A (p.Gly156Asp) SNV Uncertain significance 990913 GRCh37: 15:51514707-51514707
GRCh38: 15:51222510-51222510
35 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.237G>A (p.Arg79=) SNV Uncertain significance 990914 GRCh37: 15:51529115-51529115
GRCh38: 15:51236918-51236918
36 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.228C>T (p.Tyr76=) SNV Uncertain significance 990915 GRCh37: 15:51529124-51529124
GRCh38: 15:51236927-51236927
37 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.196C>T (p.Leu66=) SNV Uncertain significance 990916 GRCh37: 15:51529156-51529156
GRCh38: 15:51236959-51236959
38 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.146-7G>T SNV Uncertain significance 990917 GRCh37: 15:51529213-51529213
GRCh38: 15:51237016-51237016
39 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.138A>C (p.Ser46=) SNV Uncertain significance 990918 GRCh37: 15:51534972-51534972
GRCh38: 15:51242775-51242775
40 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.99C>A (p.Gly33=) SNV Uncertain significance 990919 GRCh37: 15:51535011-51535011
GRCh38: 15:51242814-51242814
41 LOC110386951 , MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.41C>T (p.Thr14Ile) SNV Uncertain significance 990920 GRCh37: 15:51535069-51535069
GRCh38: 15:51242872-51242872
42 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.*1069C>T SNV Uncertain significance 316456 rs527275486 GRCh37: 15:51501936-51501936
GRCh38: 15:51209739-51209739
43 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.953T>C (p.Met318Thr) SNV Uncertain significance 316473 rs143839949 GRCh37: 15:51507335-51507335
GRCh38: 15:51215138-51215138
44 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.*9G>T SNV Uncertain significance 316470 rs373757519 GRCh37: 15:51502996-51502996
GRCh38: 15:51210799-51210799
45 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.*1608C>T SNV Uncertain significance 316453 rs781782351 GRCh37: 15:51501397-51501397
GRCh38: 15:51209200-51209200
46 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.*2032G>A SNV Uncertain significance 316450 rs886051272 GRCh37: 15:51500973-51500973
GRCh38: 15:51208776-51208776
47 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.629-10T>C SNV Uncertain significance 316475 rs781489846 GRCh37: 15:51510862-51510862
GRCh38: 15:51218665-51218665
48 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.*240C>A SNV Uncertain significance 884314 GRCh37: 15:51502765-51502765
GRCh38: 15:51210568-51210568
49 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.*125T>C SNV Uncertain significance 884315 GRCh37: 15:51502880-51502880
GRCh38: 15:51210683-51210683
50 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.*78G>T SNV Uncertain significance 884316 GRCh37: 15:51502927-51502927
GRCh38: 15:51210730-51210730

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

72
# 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 calcium channel complex GO:0034704 9.16 TRPV6 TRPV5
3 endosome lumen GO:0031904 8.8 LRP2 INS GH1

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.61 TRPV6 TRPV5 SLC8A1
2 calcium ion transmembrane transport GO:0070588 9.58 TRPV6 TRPV5 SLC8A1
3 response to estradiol GO:0032355 9.5 GH1 ESR1 CYP19A1
4 positive regulation of glycolytic process GO:0045821 9.46 PRKAA2 INS
5 fatty acid homeostasis GO:0055089 9.37 PRKAA2 INS
6 calcium ion transport into cytosol GO:0060402 9.26 TRPV5 SLC8A1
7 vagina development GO:0060068 9.16 LRP2 ESR1
8 calcium ion homeostasis GO:0055074 9.13 TRPV6 TRPV5 SLC8A1
9 calcium ion import across plasma membrane GO:0098703 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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