AROD
MCID: ARM001
MIFTS: 58

Aromatase Deficiency (AROD) malady

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

Aliases & Classifications for Aromatase Deficiency

Aliases & Descriptions for Aromatase Deficiency:

Name: Aromatase Deficiency 54 50 24 25 56 66 29 13 69
Congenital Estrogen Deficiency 50 56
Placental Aromatase Deficiency 25 69
46,xx Disorder of Sex Development Due to Placental Aromatase Deficiency 25
Pseudohermaphroditism Female Due to Placental Aromatase Deficiency 66
46, Xx Disorders of Sex Development 42
Oestrogen Synthetase Deficiency 25
Estrogen Synthetase Deficiency 25
Arod 66

Characteristics:

Orphanet epidemiological data:

56
aromatase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

HPO:

32
aromatase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613546
Orphanet 56 ORPHA91
MESH via Orphanet 43 C537436
ICD10 via Orphanet 34 E25.8
UMLS via Orphanet 70 C0878680
MedGen 40 C0878680
ICD10 33 Q56.2

Summaries for Aromatase Deficiency

OMIM : 54 Aromatase deficiency is a rare autosomal recessive disorder in which individuals cannot synthesize endogenous... (613546) more...

MalaCards based summary : Aromatase Deficiency, also known as congenital estrogen deficiency, is related to estrogen resistance and her2-receptor negative breast cancer, and has symptoms including bone pain, obesity and genu valgum. An important gene associated with Aromatase Deficiency is CYP19A1 (Cytochrome P450 Family 19 Subfamily A Member 1), and among its related pathways/superpathways are CREB Pathway and Prolactin Signaling Pathway. The drugs Cyproterone Acetate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include ovary, breast and bone, and related phenotypes are Decreased viability and cellular

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.

UniProtKB/Swiss-Prot : 66 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 : 71 Aromatase deficiency is a condition resulting from insufficient production of the enzyme aromatase,... more...

Related Diseases for Aromatase Deficiency

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

(show all 44)
id Related Disease Score Top Affiliating Genes
1 estrogen resistance 11.2
2 her2-receptor negative breast cancer 10.2 CYP19A1 ESR1
3 osteogenesis imperfecta 10.2 CYP19A1 ESR1
4 acute thyroiditis 10.2 CYP19A1 ESR1
5 celiac disease 12 10.1 CYP19A1 ESR1
6 neuroschistosomiasis 10.1 BGLAP ESR1
7 perinatal jaundice due to hepatocellular damage 10.1 CYP19A1 ESR1
8 vertebral artery occlusion 10.1 GNRH1 INS
9 protein s deficiency 10.1 GH1 INS
10 larynx leiomyoma 10.1 CYP19A1 ESR1
11 esophagus sarcoma 10.1 CYP19A1 ESR1
12 sphingolipidosis 10.0 CYP19A1 GNRH1 INS
13 glomangiomyoma 10.0 BGLAP GH1 INS
14 epidural spinal canal meningioma 10.0 CYP19A1 GNRH1 INS
15 pelvic muscle wasting 10.0 CYP19A1 GNRH1 INS
16 critical congenital heart disease 10.0 GH1 GNRH1
17 pinguecula 10.0 CYP19A1 GNRH1 INS
18 intermittent squint 10.0 GH1 GNRH1
19 primary biliary cirrhosis 10.0 CYP19A1 GNRH1 INS
20 deafness, autosomal recessive 74 10.0 CYP19A1 ESR1 GNRH1
21 haverhill fever 10.0 CYP19A1 ESR1 GNRH1
22 nephrogenic adenofibroma 10.0 CYP19A1 ESR1 GNRH1
23 black piedra 10.0 CYP19A1 ESR1 GNRH1
24 liver sarcoma 10.0 CYP19A1 ESR1
25 olfactory nerve neoplasm 10.0 GH1 GNRH1 INS
26 immune system disease 9.9 CYP19A1 ESR1 GNRH1
27 diencephalic neoplasm 9.9 GH1 GNRH1 INS
28 urethra clear cell adenocarcinoma 9.9 GH1 GNRH1 INS
29 capillary lymphangioma 9.9 GH1 GNRH1 INS
30 edict syndrome 9.9 BGLAP ESR1 GH1 INS
31 primary effusion lymphoma 9.9 GH1 GNRH1
32 spondylolysis 9.9 CYP19A1 ESR1 GNRH1 INS
33 avoidant personality disorder 9.9 CYP19A1 ESR1 GNRH1 INS
34 carnitine deficiency, systemic primary 9.9 BGLAP CYP19A1 ESR1 GH1
35 spastic paraplegia 39, autosomal recessive 9.8 GNRH1 LRP2
36 hypogonadism 9.6
37 pseudohermaphroditism 9.6
38 cytochrome p450 oxidoreductase deficiency 9.6
39 granulosa cell tumor of the ovary 9.6
40 congenital adrenal hyperplasia 9.6
41 hyperandrogenism 9.6
42 amenorrhea 9.6
43 split-hand/foot malformation with long bone deficiency 1 9.5 BGLAP CYP19A1 ESR1 GNRH1 INS TRPV6
44 adams-oliver syndrome 6 8.6 BGLAP CYP19A1 ESR1 GH1 GNRH1 INS

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



Diseases related to Aromatase Deficiency

Symptoms & Phenotypes for Aromatase Deficiency

Clinical features from OMIM:

613546

Human phenotypes related to Aromatase Deficiency:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bone pain 56 32 Very frequent (99-80%) HP:0002653
2 obesity 56 32 Very frequent (99-80%) HP:0001513
3 genu valgum 56 32 Very frequent (99-80%) HP:0002857
4 osteopenia 56 32 Very frequent (99-80%) HP:0000938
5 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
6 type ii diabetes mellitus 56 32 Frequent (79-30%) HP:0005978
7 osteoporosis 56 32 Very frequent (99-80%) HP:0000939
8 acanthosis nigricans 56 32 Frequent (79-30%) HP:0000956
9 generalized hirsutism 56 32 Frequent (79-30%) HP:0002230
10 cryptorchidism 56 32 Very frequent (99-80%) HP:0000028
11 female infertility 56 32 Very frequent (99-80%) HP:0008222
12 primary amenorrhea 56 32 Very frequent (99-80%) HP:0000786
13 hepatic steatosis 56 32 Frequent (79-30%) HP:0001397
14 growth delay 56 32 Very frequent (99-80%) HP:0001510
15 hypergonadotropic hypogonadism 56 32 Very frequent (99-80%) HP:0000815
16 hyperlipidemia 56 32 Very frequent (99-80%) HP:0003077
17 female pseudohermaphroditism 56 32 Very frequent (99-80%) HP:0010458
18 enlarged polycystic ovaries 56 32 Very frequent (99-80%) HP:0008675
19 tall stature 56 32 Very frequent (99-80%) HP:0000098
20 male infertility 56 32 Very frequent (99-80%) HP:0003251
21 insulin resistance 56 32 Frequent (79-30%) HP:0000855
22 ambiguous genitalia, female 56 32 Very frequent (99-80%) HP:0000061
23 eunuchoid habitus 56 32 Very frequent (99-80%) HP:0003782
24 delayed epiphyseal ossification 56 32 Very frequent (99-80%) HP:0002663
25 maternal virilization in pregnancy 56 32 Very frequent (99-80%) HP:0008072
26 macroorchidism, postpubertal 56 32 Frequent (79-30%) HP:0002050
27 ovarian cyst 32 HP:0000138

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.8 TRPV5 TRPV6 ESR1 PRKAA2
2 Decreased viability GR00221-A-2 9.8 TRPV6 ESR1 PRKAA2
3 Decreased viability GR00221-A-3 9.8 TRPV6 PRKAA2
4 Decreased viability GR00221-A-4 9.8 TRPV5 TRPV6 ESR1 PRKAA2
5 Decreased viability GR00301-A 9.8 TRPV5
6 Decreased viability GR00342-S-1 9.8 PRKAA2

MGI Mouse Phenotypes related to Aromatase Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 TRPV6 CYP19A1 ESR1 INS LRP2 PRKAA2
2 growth/size/body region MP:0005378 10.02 CYP19A1 ESR1 GNRH1 INS LRP2 PRKAA2
3 digestive/alimentary MP:0005381 9.98 ESR1 GNRH1 INS LRP2 SLC8A1 TRPV5
4 endocrine/exocrine gland MP:0005379 9.95 CYP19A1 ESR1 GNRH1 INS LRP2 PRKAA2
5 hematopoietic system MP:0005397 9.87 CYP19A1 ESR1 GNRH1 INS LRP2 PRKAA2
6 homeostasis/metabolism MP:0005376 9.86 CYP19A1 ESR1 GNRH1 INS LRP2 PRKAA2
7 renal/urinary system MP:0005367 9.7 CYP19A1 ESR1 GNRH1 INS LRP2 PRKAA2
8 reproductive system MP:0005389 9.43 CYP19A1 ESR1 GNRH1 INS LRP2 TRPV6
9 skeleton MP:0005390 9.1 CYP19A1 ESR1 GNRH1 INS LRP2 TRPV5

Drugs & Therapeutics for Aromatase Deficiency

Drugs for Aromatase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 179)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 50-28-2 5757 53477783
3
Ethinyl Estradiol Approved Phase 4,Phase 2 57-63-6 5991
4
Drospirenone Approved Phase 4 67392-87-4 68873
5
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
7
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
8 Androgen Antagonists Phase 4,Phase 2,Phase 1
9 Androgens Phase 4,Phase 3,Phase 2,Phase 1
10 Contraceptive Agents Phase 4,Phase 2
11 Contraceptive Agents, Male Phase 4
12
Cyproterone Phase 4 2098-66-0 5284537
13 Estradiol 17 beta-cypionate Phase 4,Phase 2,Phase 1
14 Estradiol 3-benzoate Phase 4,Phase 2,Phase 1
15 Estradiol valerate Phase 4,Phase 2,Phase 1 979-32-8
16 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
18 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Polyestradiol phosphate Phase 4,Phase 2,Phase 1
21 Antioxidants Phase 4
22 Contraceptives, Oral Phase 4,Phase 2
23 Contraceptives, Oral, Combined Phase 4,Phase 2
24 Cyproterone acetate, ethinyl estradiol drug combination Phase 4
25 diuretics Phase 4
26 Diuretics, Potassium Sparing Phase 4
27 Drospirenone and ethinyl estradiol combination Phase 4
28 Hemostatics Phase 4
29 Mineralocorticoid Receptor Antagonists Phase 4
30 Mineralocorticoids Phase 4
31 Natriuretic Agents Phase 4
32 Protective Agents Phase 4
33 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
34 Calcium, Dietary Phase 4,Phase 3,Phase 2,Early Phase 1
35 Hematinics Phase 4
36 Micronutrients Phase 4,Phase 2,Phase 3,Early Phase 1
37 Trace Elements Phase 4,Phase 2,Phase 3,Early Phase 1
38 Vitamin B Complex Phase 4
39 Vitamins Phase 4,Phase 2,Phase 3,Early Phase 1
40 Folate Nutraceutical Phase 4
41 Vitamin B9 Nutraceutical Phase 4
42
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
43
Anastrozole Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 120511-73-1 2187
44
Cholecalciferol Approved, Nutraceutical Phase 2, Phase 3 67-97-0 6221 10883523 5280795
45
Ergocalciferol Approved, Nutraceutical Phase 2, Phase 3, Early Phase 1 50-14-6 5280793
46
Enclomiphene Investigational Phase 3,Phase 2 15690-57-0
47 Anti-Bacterial Agents Phase 3
48 Antibiotics, Antitubercular Phase 3
49 Anti-Infective Agents Phase 3
50 Antimalarials Phase 3

Interventional clinical trials:

(show top 50) (show all 54)
id Name Status NCT ID Phase
1 Ethinyl Estradiol and Cyproterone Acetate in Irregular Menstruation Unknown status NCT01103518 Phase 4
2 Hemocoagulation and Lipoperoxidation in Women Using Combined Oral Contraceptives, Correction by Antioxidants Unknown status NCT02027337 Phase 4
3 Effects of Metformin vs Oral Contraceptives on CV Risk Markers in PCOS Completed NCT00428311 Phase 4
4 Low Dose OC Therapy in Women With Polycystic Ovary Syndrome (PCOS): Impact of BMI on Hyperandrogenism Completed NCT01360996 Phase 4
5 Effect of a Commonly Used Antibiotic, Doxycycline, in Women With Polycystic Ovarian Syndrome Completed NCT01788215 Phase 3
6 The Effect of Metformin Added to Clomiphene Citrate on Pregnancy Rates in Hyperandrogenic, Chronic Oligoovulatory or Anovulatory Women Completed NCT00413179 Phase 3
7 Arimidex Multicenter Trial in Growth Hormone (GH) Deficient Boys Completed NCT00133354 Phase 2, Phase 3
8 Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial Completed NCT01304927 Phase 2, Phase 3
9 Study of Vitamin D Supplementation Tailored to Vitamin D Deficiency in Breast Cancer Patients Completed NCT01480869 Phase 3
10 Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2
11 Phase II Randomized Study of Leuprolide Vs Oral Contraceptive Therapy Vs Leuprolide and Oral Contraceptive Therapy for Ovarian Hyperandrogenism Completed NCT00004763 Phase 2
12 Treatment of Hyperandrogenism Versus Insulin Resistance in Infertile Polycystic Ovary Syndrome (PCOS) Women Completed NCT00704912 Phase 2
13 Vitamin D Deficiency, Muscle Pain, Joint Pain, and Joint Stiffness in Postmenopausal Women Receiving Letrozole For Stage I-III Breast Cancer Completed NCT00416715 Phase 2
14 Acupuncture or Metformin for Insulin Resistance in Women With PCOS Recruiting NCT02647827 Phase 2
15 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
16 Androgen Excess as a Mechanism for Adipogenic Dysfunction in PCOS Women Recruiting NCT01889199 Phase 2
17 Letrozole Treatment in Normal and GnRH Deficient Women Active, not recruiting NCT00351416 Phase 1, Phase 2
18 T-IR- Study to Understand the Effects of Testosterone and Estrogen on the Body's Response to the Hormone Insulin Active, not recruiting NCT01686828 Phase 1, Phase 2
19 Metformine and CC Compared With Placebo and CC for Induction Ovulation in PCOS Patients With Insulin Resistant Enrolling by invitation NCT02523898 Phase 2
20 Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia Completed NCT00001521 Phase 1
21 Time Course of Waking Versus Sleep-associated Luteinizing Hormone (LH) Pulse Frequency Suppression in Response to Progesterone in Late Pubertal Girls With and Without Hyperandrogenemia Recruiting NCT00929006 Phase 1
22 Suppression of Daytime and Nighttime Luteinizing Hormone Frequency by Progesterone Recruiting NCT01428089 Phase 1
23 CYP19A1 Gene and Pharmacogenetics of Response to Testosterone Therapy Active, not recruiting NCT01378299 Phase 1
24 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism (IHH) Terminated NCT03118479 Phase 1
25 Meal Timing on Glucose Metabolism and Hyperandrogenism in Lean Women With Polycystic Ovary Syndrome Unknown status NCT01569425
26 Meal Timing on Glucose and Hyperandrogenism in PCOS Women Unknown status NCT01711476
27 Whole Genome Analysis for the Detection of Key Genes in the Polycystic Ovary Syndrome Unknown status NCT00665171
28 Adrenal Hyperplasia Among Young People With PCOS Completed NCT01313455
29 Effect of Free Fatty Acids (FFA) on Androgen Precursors in Women Completed NCT00473603
30 Effects of Androgen Administration on Inflammation in Normal Women Completed NCT01753037
31 Obesity and Clinical Presentation of Hyperandrogenism Completed NCT01114633
32 Presentations of Hyperandrogenic Phenotypes in Taiwanese Women Completed NCT01940666
33 Circulating Androgen Levels Are Not Affected by the Administration of Vaginal Micronized Progesterone for Withdrawal Bleeding in Patients With Polycystic Ovarian Syndrome Completed NCT03088046
34 Combined Therapy With Myo-inositol and Alpha-Lipoic Acid in PCOS Women Completed NCT02651636
35 High Dose Vit D Musculoskeletal Symptoms & Bone Density in Anastrozole-Treated Breast Cancer With Marginal Vit D Status Completed NCT00263185 Early Phase 1
36 Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome Recruiting NCT02967822
37 Assessment of Day-night Secretion of Progesterone and LH Across Puberty Recruiting NCT02155933
38 Urinary DENND1A.V2 as a Predictor of Pubertal Hyperandrogenemia Recruiting NCT02611128
39 Etiological Factors of Obesity-Associated Hyperandrogenemia in Peripubertal Girls Recruiting NCT00928759
40 Phlebotomy and Polycystic Ovary Syndrome Recruiting NCT02460445
41 Effect of Spironolactone on Adrenal or Ovarian Androgen Production in Overweight Pubertal Girls With Androgen Excess Recruiting NCT01422759
42 Effect of Metformin on Adrenal or Ovarian Androgen Production in Overweight Pubertal Girls With Androgen Excess Recruiting NCT01422746
43 Ovarian Contribution to Androgen Production in Adolescent Girls Recruiting NCT01421810
44 Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome Recruiting NCT03181230
45 Sleep-wake Changes of Luteinizing Hormone Frequency in Pubertal Girls With and Without High Testosterone Active, not recruiting NCT00930007
46 Effects of Androgen Blockade on Sensitivity of the GnRH Pulse Generator to Suppression by Estradiol and Progesterone Active, not recruiting NCT01428193
47 Effect of Metformin on Sensitivity of the GnRH Pulse Generator to Suppression by Estradiol and Progesterone Active, not recruiting NCT01427595
48 Role of Insulin Action and Free Fatty Acids in Hyperandrogenism of Women With Polycystic Ovary Syndrome Active, not recruiting NCT01019356
49 Decision Support for Parents Receiving Information About Child's Rare Disease Active, not recruiting NCT01875640
50 Natural History Study of Patients With Excess Androgen Enrolling by invitation NCT00250159

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:

id Genetic test Affiliating Genes
1 Aromatase Deficiency 29 24 CYP19A1

Anatomical Context for Aromatase Deficiency

MalaCards organs/tissues related to Aromatase Deficiency:

39
Ovary, Breast, Bone, Placenta, Adrenal Gland, Pituitary, Liver

Publications for Aromatase Deficiency

Articles related to Aromatase Deficiency:

(show top 50) (show all 60)
id Title Authors Year
1
Aromatase deficiency in a male patient - Case report and review of the literature. ( 27693882 )
2016
2
Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization. ( 27256151 )
2016
3
Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect. ( 25415177 )
2015
4
Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: Effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism. ( 25301327 )
2014
5
A case of Aromatase deficiency due to a novel CYP19A1 mutation. ( 24552606 )
2014
6
Aromatase deficiency in an adolescent girl misdiagnosed as congenital adrenal hyperplasia in infancy and childhood. ( 24825080 )
2014
7
Aromatase deficiency: rare cause of virilization. ( 23093430 )
2013
8
Aromatase deficiency, a rare syndrome: case report. ( 23748068 )
2013
9
Hypothesis: Persistently elevated hCG causes gestational ovarian overstimulation associated with prolonged postpartum hyperandrogenism in mothers of aromatase-deficient babies. ( 23824416 )
2013
10
Aromatase deficiency: an unusual cause for primary amenorrhea with virilization. ( 24482950 )
2013
11
Retraction. Neurological effects of aromatase deficiency in the mouse. ( 22250293 )
2012
12
Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency. ( 23329769 )
2012
13
Aromatase deficiency and its consequences. ( 21691947 )
2011
14
Aromatase deficiency due to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. ( 21521281 )
2011
15
Aromatase deficiency confers paradoxical postischemic cardioprotection. ( 22028441 )
2011
16
Unusual virilization in girls with juvenile granulosa cell tumors of the ovary is related to intratumoral aromatase deficiency. ( 20395670 )
2010
17
Novel human pathological mutations. Gene symbol: CYP19A1. Disease: Aromatase deficiency. ( 20108383 )
2010
18
Aromatase deficiency inhibits the permeability transition in mouse liver mitochondria. ( 20194728 )
2010
19
Steroid profiling in preeclamptic women: evidence for aromatase deficiency. ( 20691412 )
2010
20
Tall stature without growth hormone: four male patients with aromatase deficiency. ( 20164294 )
2010
21
Novel human pathological mutations. Gene symbol: CYP19A1. Disease: Aromatase deficiency. ( 20108419 )
2010
22
Aromatase deficiency in men: a clinical perspective. ( 19707181 )
2009
23
Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence. ( 19844120 )
2009
24
Metformin, estrogen replacement therapy and gonadotropin inhibition fail to improve insulin sensitivity in a girl with aromatase deficiency. ( 19844126 )
2009
25
Testosterone action on erythropoiesis does not require its aromatization to estrogen: Insights from the testosterone and estrogen treatment of two aromatase-deficient men. ( 19159688 )
2009
26
The effects of long-term raloxifene and estradiol treatments on bone in a patient with congenital aromatase deficiency. ( 19345749 )
2009
27
Human models of aromatase deficiency. ( 18448329 )
2008
28
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
29
Aromatase deficiency causes altered expression of molecules critical for calcium reabsorption in the kidneys of female mice *. ( 17708714 )
2007
30
Estrogen and adiposity--utilizing models of aromatase deficiency to explore the relationship. ( 17643292 )
2007
31
Skeletal effects of long-term estrogen and testosterone replacement treatment in a man with congenital aromatase deficiency: evidences of a priming effect of estrogen for sex steroids action on bone. ( 17400043 )
2007
32
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
33
Recognizing rare disorders: aromatase deficiency. ( 17452968 )
2007
34
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
35
Of mice and men: the evolving phenotype of aromatase deficiency. ( 16480891 )
2006
36
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
37
Oestrogen modulation of the effect of 8-OH-DPAT on prepulse inhibition: effects of aromatase deficiency and castration in mice. ( 16896955 )
2006
38
Effects of estrogen replacement therapy on bone and glucose metabolism in a male with congenital aromatase deficiency. ( 15824973 )
2005
39
Human gene mutations. Gene symbol: CYP19. Disease: Aromatase deficiency. ( 15046111 )
2004
40
[Aromatase deficiency]. ( 14968547 )
2004
41
Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene. ( 14602738 )
2003
42
Neurological effects of aromatase deficiency in the mouse. ( 14623532 )
2003
43
Pituitary function in a man with congenital aromatase deficiency: effect of different doses of transdermal E2 on basal and stimulated pituitary hormones. ( 12050263 )
2002
44
[Estrogen resistance and aromatase deficiency in humans]. ( 12462077 )
2002
45
Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene. ( 12466340 )
2002
46
Sex- and age-related response to aromatase deficiency in bone. ( 11162635 )
2001
47
Aromatase deficiency and estrogen resistance: from molecular genetics to clinic. ( 11305285 )
2000
48
Estrogen replacement therapy in a man with congenital aromatase deficiency: effects of different doses of transdermal estradiol on bone mineral density and hormonal parameters. ( 10843162 )
2000
49
Bone has a sexually dimorphic response to aromatase deficiency. ( 10750565 )
2000
50
Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. ( 10566648 )
1999

Variations for Aromatase Deficiency

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

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 CYP19A1 NM_031226.2(CYP19A1): c.1303C> T (p.Arg435Cys) single nucleotide variant Pathogenic rs121434534 GRCh37 Chromosome 15, 51503214: 51503214
2 CYP19A1 NM_031226.2(CYP19A1): c.1310G> A (p.Cys437Tyr) single nucleotide variant Pathogenic rs78310315 GRCh37 Chromosome 15, 51503207: 51503207
3 CYP19A1 NM_031226.2(CYP19A1): c.743+2T> C single nucleotide variant Pathogenic rs786205107 GRCh38 Chromosome 15, 51218539: 51218539
4 CYP19A1 NM_031226.2(CYP19A1): c.1123C> T (p.Arg375Cys) single nucleotide variant Pathogenic rs121434536 GRCh37 Chromosome 15, 51504657: 51504657
5 CYP19A1 NM_031226.2(CYP19A1): c.1224delC (p.Lys409Asnfs) deletion Pathogenic rs786205108 GRCh38 Chromosome 15, 51212359: 51212359
6 CYP19A1 NM_031226.2(CYP19A1): c.296+1G> A single nucleotide variant Pathogenic rs786205109 GRCh38 Chromosome 15, 51236858: 51236858
7 CYP19A1 NM_031226.2(CYP19A1): c.1094G> A (p.Arg365Gln) single nucleotide variant Pathogenic rs80051519 GRCh37 Chromosome 15, 51504686: 51504686
8 CYP19A1 CYP19A1, 1-BP DEL, C, CODON 156 deletion Pathogenic
9 CYP19A1 NM_031226.2(CYP19A1): c.629-3C> A single nucleotide variant Pathogenic rs786205110 GRCh38 Chromosome 15, 51218658: 51218658
10 CYP19A1 NM_031226.2(CYP19A1): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic rs121434538 GRCh37 Chromosome 15, 51514546: 51514546

Expression for Aromatase Deficiency

Search GEO for disease gene expression data for Aromatase Deficiency.

Pathways for Aromatase Deficiency

GO Terms for Aromatase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 8.62 GH1 INS

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

(show all 12)
id 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 9.63 SLC8A1 TRPV5 TRPV6
3 glucose transport GO:0015758 9.51 GH1 INS
4 response to testosterone GO:0033574 9.49 BGLAP GNRH1
5 androgen metabolic process GO:0008209 9.43 CYP19A1 ESR1
6 uterus development GO:0060065 9.4 CYP19A1 ESR1
7 positive regulation of glycolytic process GO:0045821 9.37 INS PRKAA2
8 calcium ion transport into cytosol GO:0060402 9.32 SLC8A1 TRPV5
9 fatty acid homeostasis GO:0055089 9.26 INS PRKAA2
10 calcium ion import across plasma membrane GO:0098703 9.16 TRPV5 TRPV6
11 calcium ion import into cell GO:1990035 8.96 TRPV5 TRPV6
12 calcium ion homeostasis GO:0055074 8.8 SLC8A1 TRPV5 TRPV6

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

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

Sources for Aromatase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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44 MGI
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48 NDF-RT
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52 Novoseek
54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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