Aliases & Classifications for Gynecomastia

MalaCards integrated aliases for Gynecomastia:

Name: Gynecomastia 12 74 29 54 6 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:12698
MeSH 43 D006177
NCIt 49 C3073
SNOMED-CT 67 4754008
ICD10 32 N62
UMLS 71 C0018418

Summaries for Gynecomastia

Disease Ontology : 12 A sex development disorder that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels.

MalaCards based summary : Gynecomastia is related to aromatase excess syndrome and androgen insensitivity, partial. An important gene associated with Gynecomastia is HSD17B3 (Hydroxysteroid 17-Beta Dehydrogenase 3), and among its related pathways/superpathways are Prolactin Signaling Pathway and Translation Non-genomic (rapid) action of Androgen Receptor. The drugs Eplerenone and Aripiprazole have been mentioned in the context of this disorder. Affiliated tissues include breast, prostate and liver, and related phenotypes are endocrine/exocrine gland and liver/biliary system

Wikipedia : 74 Gynecomastia (also spelled Gynaecomastia) is an endocrine system disorder in which a noncancerous... more...

Related Diseases for Gynecomastia

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

(show top 50) (show all 512)
# Related Disease Score Top Affiliating Genes
1 aromatase excess syndrome 33.5 SHBG POMC ESR2 ESR1 CYP19A1 CGB5
2 androgen insensitivity, partial 32.9 SRD5A1 SHBG CYP19A1 AR
3 hypogonadotropic hypogonadism 32.2 SHBG PRL GNRH1 CYP19A1 AR
4 androgen insensitivity syndrome 31.1 SRY SRD5A2 SRD5A1 SHBG HSD17B3 CGA
5 in situ carcinoma 31.1 PGR ESR1 CYP19A1
6 hyperthyroidism 30.9 SHBG PRL POMC CGA
7 testicular cancer 30.8 SHBG CGB5 CGA AR
8 ductal carcinoma in situ 30.8 PGR ESR2 ESR1 CYP19A1 AR
9 sertoli cell tumor 30.8 PGR INHA CYP19A1 AR
10 breast fibroadenoma 30.7 PGR ESR1 CYP19A1 AR
11 hypogonadism 30.7 SHBG PRL GNRH1 CYP19A1 AR
12 leydig cell tumor 30.6 INHA GNRH1 ESR1 CYP19A1
13 choriocarcinoma 30.5 INHA CYP19A1 CGB5 CGA
14 sweat gland cancer 30.3 PGR ESR1 AR
15 breast cyst 30.3 PRL KLK3 CYP19A1
16 seminoma 30.3 INHA ESR2 CGB5 CGA
17 testicular germ cell cancer 30.3 ESR2 ESR1 AR
18 breast carcinoma in situ 30.2 PGR ESR1 CYP19A1
19 hyperprolactinemia 30.2 SHBG PRL POMC GNRH1 CGA
20 neurofibromatosis, type ii 30.2 SRD5A1 SHBG PGR
21 lobular neoplasia 30.1 PGR ESR2 ESR1 CYP19A1
22 gonadal dysgenesis 30.1 SRY SHBG CGB5
23 anxiety 30.0 PRL POMC ESR1 CYP3A4
24 female breast cancer 29.9 PGR KLK3 ESR1 CYP19A1 AR
25 breast disease 29.9 SHBG PRL POMC PGR KLK3 ESR2
26 obsessive-compulsive disorder 29.9 PRL POMC ESR2 ESR1
27 oligospermia 29.8 SRD5A2 PRL AR
28 varicocele 29.8 SHBG PRL GNRH1 CGA AR
29 estrogen excess 29.7 SHBG PRL PGR GNRH1 ESR2 ESR1
30 pituitary adenoma, prolactin-secreting 29.7 PRL POMC GNRH1 ESR2 ESR1
31 testicular disease 29.6 GNRH1 CGA AR
32 germ cell cancer 29.6 ESR2 ESR1 CYP3A4 CGA AR
33 alopecia 29.6 SRD5A2 SRD5A1 SHBG PRL AR
34 acromegaly 29.5 SHBG PRL POMC GNRH1
35 transsexualism 29.4 SRD5A2 ESR2 CYP19A1 AR
36 pituitary gland disease 29.4 PRL POMC GNRH1 CGA
37 hypospadias 29.4 SRY SRD5A2 SRD5A1 HSD17B3 ESR2 ESR1
38 leiomyoma 29.4 PGR GNRH1 ESR2 ESR1 CYP19A1
39 pseudohermaphroditism 29.3 SRY SRD5A2 SRD5A1 POMC HSD17B3 CYP19A1
40 ovarian cyst 29.3 PRL GNRH1 ESR2 CYP19A1 CGA
41 hermaphroditism 29.3 SRY SRD5A2 SHBG CGA AR
42 amenorrhea 29.3 SHBG PRL POMC GNRH1 CYP19A1
43 impotence 29.2 SRD5A1 SHBG PRL POMC KLK3 GNRH1
44 hypothyroidism 29.2 SHBG PRL POMC GNRH1 CYP3A4 CGA
45 alopecia, androgenetic, 1 29.1 SRD5A2 SRD5A1 SHBG CYP19A1 AR
46 prostate disease 29.1 SRD5A2 SRD5A1 KLK3 CYP19A1 AR
47 bladder urothelial carcinoma 29.1 SRD5A2 SRD5A1 KLK3 AR
48 sexual disorder 29.1 SHBG PRL POMC KLK3 GNRH1 CYP3A4
49 prostatic hyperplasia, benign 29.1 SRD5A2 SRD5A1 SHBG KLK3 ESR2 AR
50 conn's syndrome 29.1 PRL POMC NR3C2 GNRH1

Graphical network of the top 20 diseases related to Gynecomastia:



Diseases related to Gynecomastia

Symptoms & Phenotypes for Gynecomastia

MGI Mouse Phenotypes related to Gynecomastia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.1 AR CGA CYP19A1 ESR1 ESR2 GNRH1
2 liver/biliary system MP:0005370 9.86 AR CYP19A1 ESR1 ESR2 GNRH1 INHA
3 neoplasm MP:0002006 9.76 AR ESR1 ESR2 GNRH1 INHA PGR
4 renal/urinary system MP:0005367 9.5 AR CYP19A1 ESR1 ESR2 GNRH1 NR3C2
5 reproductive system MP:0005389 9.36 AR CGA CYP19A1 ESR1 ESR2 GNRH1

Drugs & Therapeutics for Gynecomastia

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

(show top 50) (show all 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 150310 443872
2
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
5
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
6
Methyltestosterone Approved Phase 4 58-18-4 6010
7
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
8
Testosterone enanthate Approved Phase 4 315-37-7 9416
9
Amiloride Approved Phase 4 2016-88-8, 2609-46-3 16231
10
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
11 Antihypertensive Agents Phase 4
12 Antipsychotic Agents Phase 4
13 Dopamine Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 Dopamine agonists Phase 4
16 Dopamine Antagonists Phase 4
17 Antidepressive Agents Phase 4
18 Serotonin 5-HT1 Receptor Agonists Phase 4
19 Serotonin Receptor Agonists Phase 4
20 Psychotropic Drugs Phase 4
21 Quetiapine Fumarate Phase 4 111974-72-2
22 Liver Extracts Phase 4
23 Antioxidants Phase 4
24 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
25 Protective Agents Phase 4
26 Anesthetics Phase 4
27 Anesthetics, Local Phase 4
28 Antineoplastic Agents, Hormonal Phase 4
29 Mineralocorticoids Phase 4
30 Mineralocorticoid Receptor Antagonists Phase 4
31 diuretics Phase 4
32 Diuretics, Potassium Sparing Phase 4
33 Testosterone 17 beta-cypionate Phase 4
34 Anabolic Agents Phase 4
35 Sodium Channel Blockers Phase 4
36
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
37
Anastrozole Approved, Investigational Phase 3 120511-73-1 2187
38
Tamoxifen Approved Phase 3 10540-29-1 2733526
39
Testosterone Approved, Experimental, Investigational Phase 3 58-22-0, 481-30-1 10204 6013
40
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
41
Dutasteride Approved, Investigational Phase 3 164656-23-9 152945 6918296
42
Bicalutamide Approved Phase 3 90357-06-5 2375 56069
43
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
44
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
45
Polyestradiol phosphate Approved Phase 3 28014-46-2
46
Flutamide Approved, Investigational Phase 3 13311-84-7 3397
47
Goserelin Approved Phase 3 65807-02-5 5311128 47725
48
Dihydrotestosterone Illicit, Investigational Phase 3 521-18-6 10635
49 Estrogen Antagonists Phase 3
50 Estrogen Receptor Antagonists Phase 3

Interventional clinical trials:

(show all 37)
# Name Status NCT ID Phase Drugs
1 Changes of Heart Rate Variability in Schizophrenic and Bipolar Patients Under the Medication of Aripiprazole and Quetiapine Unknown status NCT01047215 Phase 4 Aripiprazole; Quetiapine
2 Does Aldosterone Cause Hypertension by a Non-Renal Mechanism? Unknown status NCT00553722 Phase 4 Eplerenone;Placebo
3 The Effects of Melatonin on Elevated Liver Enzymes During Statins Treatment Completed NCT03121521 Phase 4 Melatonin 10 mg;Placebo
4 EFFICACY EVALUATION OF PRUNUS DOMESTICA EXTRACT ON BENIGN PROSTATE HYPERPLASIA (BPH): An Add on Study Completed NCT02702947 Phase 4
5 Does Stellate Ganglion Blockade (SGB) in Men Treated for Prostate Cancer Improve Hot Flashes? A Pilot Prospective Cohort Study Recruiting NCT03796195 Phase 4 .5% Bupivacaine
6 A Comparison of Side Effects in Hypogonadal Men Treated With Natesto Versus Testosterone Injections: A Phase IV, Prospective, Randomized, Non-Blinded, Multi-Institutional Study Not yet recruiting NCT04439799 Phase 4 Testosterone Cypionate 200 MG/ML;Intranasal Testosterone
7 SPironolactone Versus Amiloride for Treatment of REsistant Hypertension (SPARE Trial): A Comparison of Home Blood Pressure Not yet recruiting NCT04331691 Phase 4 Spironolactone;Amiloride
8 Usefulness of Spironolactone for the Prevention of Acute Kidney Injury in Critically Ill Patients With Invasive Mechanical Ventilation Unknown status NCT03206658 Phase 3 Spironolactone 25 mg;Placebo oral capsule
9 An OptioExtension of Trial 1033US/0006 to Assess Safety, Tolerability, Efficacy of Anastrozole (ZD1033, Arimidex™) in Treatment of Gynecomastia in Pubertal Boys Given Placebo and to Conduct a Long-Term Safety Follow-Up of Non-Responding Subjects Given Anastrozole in the Previous Trial Completed NCT00637182 Phase 3 Anastrozole
10 A Comparative Trial of the Efficacy of Two Different Nolvadex (NDX) Dosing and Scheduling Regimens in Preventing Gynecomastia Induced by Casodex (CDX) 150 Monotherapy in Prostate Cancer Patients. An Open, Multicenter, Phase III Trial. Completed NCT00233610 Phase 3 Bicalutamide;Tamoxifen
11 Role of Testosterone and Its Metabolites Regarding Different Physiological Functions in Subjects Affected by Gender Identity Disorder (FtM Transsexuals) Completed NCT00146146 Phase 3 testosterone undecanoate alone;testosterone undecanoate plus letrozole;testosterone undecanoate plus dutasteride
12 Topical Nitroglycerin as a Mechanism for Cutaneous Vaso-modulation and Improved Wound Healing After Breast Reduction Recruiting NCT04321967 Phase 3 Nitroglycerin Paste;Dermabond
13 A Randomized-Controlled Trial of Transcutaneous Oestrogen Patches Versus LHRH Agonists in Prostate Cancer Recruiting NCT00303784 Phase 3 Goserelin;Estradiol
14 An Open-Label Pharmacokinetic and Pharmacodynamic Study of Anastrozole (Arimidex™) Used to Treat Pubertal Boys With Gynecomastia of Recent Onset Completed NCT00241436 Phase 2 Anastrozole (ARIMIDEX™)
15 Randomised, Double-blind, Placebo Controlled, Parallel-group, Multicentre Phase II Study to Assess Dose Response Relationship of Nolvadex (Oral Tablet) in Prophylactic Treatment of Gynaecomastia and Breast Pain Associated With CASODEX 150 mg (Oral Tablet), and to Assess the Tumour Control….. Completed NCT00637871 Phase 2 Casodex;Tamoxifen
16 Spironolactone and Testolactone Treatment of Boys With Familial Isosexual Precocious Puberty Completed NCT00001202 Phase 2 Spironolactone;Testolactone;Deslorelin
17 5-Alpha Reductase and Anabolic Effects of Testosterone Completed NCT00475501 Phase 2 Testosterone Enanthate;Finasteride
18 Open-label Study on Treatment of Primary Aldosteronism With Everolimus Completed NCT03174171 Phase 2 Everolimus 0.75 mg
19 Phase II, Open Label, Dose Finding Study of the Effect of GTx-758 on Total and Free Testosterone Levels in Men With Prostate Cancer Compared to a Luteinizing Hormone Releasing Hormone Agonist Terminated NCT01326312 Phase 2 GTx-758;Lupron Depot;GTx-758
20 A Randomized, Double-Blind, Placebo-Controlled, Dose-Finding Study of BHR-200 (0.36% Transdermal Estradiol Gel) for the Maintenance of Testosterone Suppression in Men With Advanced Androgen-Sensitive Prostate Cancer Terminated NCT02349386 Phase 2 BHR-200 (0.36% transdermal 17β-estradiol gel);Placebo
21 Transplantation of Expanded and Unexpanded Umbilical Cord Blood Units Following Myeloablative Chemotherapy for Hematologic Malignancies Terminated NCT00539656 Phase 1, Phase 2
22 A Randomized, Double-Blind Placebo-Controlled Study of 3,5-diiodothyropropionic Acid (DITPA) in Combination With Standard Therapy to Attain NCEP ATP III Goal for LDL Cholesterol in Hypercholesterolemic Patients Terminated NCT00311987 Phase 1, Phase 2 3,5-Diiodothyropropionic acid (DITPA) therapy
23 Swedish, Multicentered, Randomized Study of Eplerenone Versus Spironolactone as Treatment of Ascites Due to Liver Cirrhosis Regarding Efficacy and Side Effects Withdrawn NCT01801228 Phase 2 Eplerenone
24 A Randomized Open Label Trial of Spironolactone Versus Prednisolone in Corticosteroid-naïve Boys With DMD Recruiting NCT03777319 Phase 1 Spironolactone;Prednisolone
25 Targeted Fat Reduction of Pseudogynecomastia in the Male Breast Using the ZELTIQ Coolsculpting System Unknown status NCT01791660
26 Effect of Type and Severity of Liver Cirrhosis on Semen Parameters and Reproductive Hormones Unknown status NCT03167749
27 Post-massive Weight Loss Chest Contouring: Inferior Pedicle Technique in Pseudo-gynecomastia Correction Completed NCT03319862
28 A Randomized Controlled Trial Modified Benelli Procedure For Subcutaneous Mastectomy In Gynecomastia Completed NCT04063722
29 Changes in Hyperprolactinemia Secondary to Antipsychotics After Switching to Quetiapine: a Naturalistic, Prospective, Multicentric Observational Study of 6 Months Follow-up Completed NCT00952757
30 Adaptation Among Adolescents and Adults With Klinefelter Syndrome Completed NCT00896272
31 Management of Azoospermic Patients With Kleinfelter Syndrome Patients With Mesenchymal Stem Cell Injection Completed NCT02414295 Mesenchymal stem cell injection
32 Delayed Puberty in Boys; Clinical and Biochemical Characteristics and Effect of Testosterone Treatment - Retrospective Experience From a Single Tertiary Referral Centre 1990-2013 Completed NCT02034487
33 Spironolactone for Reducing Proteinuria in Diabetic Nephropathy Completed NCT00498537 spironolactone
34 Thoracic Interfascial Plane Block Versus Thoracic Paravertebral Block for Anesthesia in Gynecomastia Surgery: A Randomized Controlled Trial Recruiting NCT04425447 Tumescent local anesthesia;Thoracic paravertebral block;Thoracic interfascial plane block
35 Ultrasound Guided Modified Pectoral Plane (PECS II )Block Versus Erector Spinae Plane (ESP) Block for Perioperative Analgesia of Surgical Treatment of Gynecomastia Not yet recruiting NCT04221074
36 Impact of Strength Training With Vascular Occlusion on the Syndrome Lipodystrophy in Patients Harboring With HIV/Aids Terminated NCT02783417
37 Clinical Evaluation of the UltraShape Device for Non-Invasive Fat Reduction in the Male Breast (Pseudogynecomastia) Withdrawn NCT02711605

Search NIH Clinical Center for Gynecomastia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Tamoxifen
Tamoxifen Citrate

Genetic Tests for Gynecomastia

Genetic tests related to Gynecomastia:

# Genetic test Affiliating Genes
1 Gynecomastia 29

Anatomical Context for Gynecomastia

MalaCards organs/tissues related to Gynecomastia:

40
Breast, Prostate, Liver, Testis, Heart, Lung, Pituitary

Publications for Gynecomastia

Articles related to Gynecomastia:

(show top 50) (show all 3130)
# Title Authors PMID Year
1
[The use of aromatase inhibitors in children]. 61 54
20088436 2009
2
Venlafaxine-induced gynecomastia in a young patient: a case report. 54 61
18978497 2009
3
Mineralocorticoid receptor antagonists and endothelial function. 61 54
18729003 2008
4
Effect of hyperprolactinemia during development in children and adolescents. 54 61
18816151 2008
5
Gynecomastia in prepubertal and pubertal men. 61 54
18622206 2008
6
An open label, dose response study to determine the effect of a dietary supplement on dihydrotestosterone, testosterone and estradiol levels in healthy males. 61 54
18700016 2008
7
Association between gynecomastia and aromatase (CYP19) polymorphisms. 61 54
18426832 2008
8
[Phenotype of patients with gynecomastia]. 54 61
18465688 2008
9
Growth hormone producing prolactinoma in juvenile cystinosis: a simple coincidence? 61 54
17638022 2008
10
Clinical implications of antipsychotic-induced hyperprolactinemia in patients with schizophrenia spectrum or bipolar spectrum disorders: recent developments and current perspectives. 54 61
18004132 2007
11
Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene. 61 54
17584767 2007
12
Effect of hyperprolactinemia in male patients consulting for sexual dysfunction. 54 61
17655655 2007
13
Gynecomastia: review. 61 54
17925790 2007
14
Gynecomastia. 61 54
17543732 2007
15
Open-label, prospective trial of olanzapine in adolescents with subaverage intelligence and disruptive behavioral disorders. 54 61
16865035 2006
16
Risperidone-induced symptomatic hyperprolactinaemia in adolescents. 61 54
16633146 2006
17
Prepubertal gynecomastia in Peutz-Jeghers syndrome: incomplete penetrance in a familial case and management with an aromatase inhibitor. 54 61
16452534 2006
18
Gynecomastia and breast pain induced by adjuvant therapy with bicalutamide after radical prostatectomy in patients with prostate cancer: the role of tamoxifen and radiotherapy. 61 54
16280763 2005
19
Leptin levels in boys with pubertal gynecomastia. 61 54
16355805 2005
20
[Aromatase-dependent gynecomastia in a patient with adenocarcinoma of the lung]. 54 61
16238933 2005
21
Evaluation of tamoxifen and anastrozole in the prevention of gynecomastia and breast pain induced by bicalutamide monotherapy of prostate cancer. 54 61
15681525 2005
22
Sertoli cell tumor causing prepubertal gynecomastia in a boy with peutz-jeghers syndrome: the outcome of 1-year treatment with the aromatase inhibitor testolactone. 54 61
15947469 2005
23
Dominant transmission of prepubertal gynecomastia due to serum estrone excess: hormonal, biochemical, and genetic analysis in a large kindred. 61 54
15483104 2005
24
Possible involvement of aromatase overexpression induced by cyclo-oxygenase-2 in the pathogenesis of idiopathic gynecomastia. 61 54
16392624 2005
25
The effect of tamoxifen on sex hormone binding globulin in adolescents with pubertal gynecomastia. 54 61
15379424 2004
26
Beneficial effects of raloxifene and tamoxifen in the treatment of pubertal gynecomastia. 61 54
15238910 2004
27
Gynecomastia due to hormone therapy for advanced prostate cancer: a report of ten surgically treated cases and a review of treatment options. 54 61
15510985 2004
28
[Sexual dysfunction among 78 Moroccan male hemodialysis patients: clinical and endocrine study]. 61 54
15277975 2004
29
Multiple structural and functional abnormalities in the p450 aromatase expressing transgenic male mice are ameliorated by a p450 aromatase inhibitor. 54 61
14982857 2004
30
Treatment of testosterone-induced gynecomastia with the aromatase inhibitor, anastrozole. 54 61
14963480 2004
31
Differential expressions of BRCA1 and BRCA2 in infantile gynecomastia. 61 54
15015615 2004
32
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding. 61 54
14504283 2003
33
Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene. 61 54
12736278 2003
34
Gynecomastia attributable to human chorionic gonadotropin-secreting giant cell carcinoma of lung. 54 61
12917067 2003
35
Switch to quetiapine in antipsychotic agent-related hyperprolactinemia. 61 54
12522680 2002
36
On the inhibitory action of 29 drugs having side effect gynecomastia on estrogen production. 54 61
12477487 2002
37
[An elderly case of advanced gastric cancer with gynecomastia and high serum levels of hCG]. 54 61
12404754 2002
38
Gynecomastia with sulpiride. 54 61
11846864 2002
39
Effects of risperidone on gonadal axis hormones in schizophrenia. 54 61
11793612 2001
40
Sertoli cell proliferations of the infantile testis: an intratubular form of Sertoli cell tumor? 61 54
11688457 2001
41
Measurement of androgen and estrogen receptors in breast tissue from subjects with anabolic steroid-dependent gynecomastia. 61 54
11554608 2001
42
Occult Leydig cell tumor in a patient with gynecomastia. 54 61
11497478 2001
43
Pituitary prolactin-secreting macroadenoma combined with bilateral breast cancer in a 45-year-old male. 61 54
11434671 2001
44
Aromatase expression in the human male. 54 61
11403890 2001
45
Overexpression of aromatase in transgenic male mice results in the induction of gynecomastia and other biochemical changes in mammary glands. 61 54
11358670 2001
46
[De La Chapelle syndrome]. 61 54
11268892 2001
47
Estrogen and progesterone receptors in gynecomastia. 61 54
11039372 2000
48
Immunohistochemical localization of prostate-specific antigen in ductal epithelium of male breast. Potential diagnostic pitfall in patients with gynecomastia. 61 54
10937064 2000
49
Serum inhibin B concentration in a prepubertal boy with gynecomastia and Peutz-Jeghers syndrome. 54 61
10689645 2000
50
Aromatase and gynecomastia. 61 54
10731125 1999

Variations for Gynecomastia

ClinVar genetic disease variations for Gynecomastia:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF4A NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro)SNV Uncertain significance 523498 rs766819113 X:69573536-69573536 X:70353686-70353686
2 46;Y;inv(X)(q27q28)inversion Uncertain significance 267831
3 46;XY;t(1;6)(q23;q13)dnTranslocation Uncertain significance 267836

Expression for Gynecomastia

Search GEO for disease gene expression data for Gynecomastia.

Pathways for Gynecomastia

Pathways related to Gynecomastia according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 PRL ESR2 ESR1 CGA
2
Show member pathways
12.16 SRD5A2 SRD5A1 KLK3 AR
3
Show member pathways
12.07 POMC INHA CGB5 CGA
4
Show member pathways
11.8 PRL PGR ESR1
5 11.73 ESR2 ESR1 AR
6
Show member pathways
11.71 ESR1 CGB5 CGA
7 11.64 PRL POMC CGA
8
Show member pathways
11.61 PGR NR3C2 ESR2 ESR1 AR
9 11.51 GNRH1 ESR2 CGA
10
Show member pathways
11.4 HSD17B3 CYP3A4 CYP19A1
11 11.35 SRY KLK3 AR
12 11.32 CYP3A4 CYP19A1 CGA AR
13
Show member pathways
11.3 KLK3 ESR1 AR
14
Show member pathways
11.18 SRD5A2 SRD5A1 HSD17B3 CYP3A4 CYP19A1
15 11.13 PGR INHA ESR2 CYP19A1
16
Show member pathways
11.04 SRD5A2 SRD5A1 POMC HSD17B3 CYP19A1 CGA
17
Show member pathways
10.95 SRD5A2 SRD5A1 HSD17B3
18 10.84 SHBG GNRH1 AR
19 10.67 GNRH1 CGA
20 9.93 ESR2 ESR1 CYP19A1

GO Terms for Gynecomastia

Cellular components related to Gynecomastia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.63 SRY PGR NR3C2 ESR2 ESR1 AR
2 organelle membrane GO:0031090 9.26 SRD5A2 SRD5A1 CYP3A4 CYP19A1
3 host cell nucleus GO:0042025 9.02 PGR NR3C2 ESR2 ESR1 AR

Biological processes related to Gynecomastia according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.14 PRL POMC PGR NR3C2 INHA GNRH1
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.85 PGR NR3C2 ESR2 ESR1 AR
3 steroid hormone mediated signaling pathway GO:0043401 9.73 PGR NR3C2 ESR1 AR
4 male gonad development GO:0008584 9.72 SRD5A2 SRD5A1 INHA ESR1 AR
5 mammary gland development GO:0030879 9.69 PRL PGR CYP19A1
6 sex differentiation GO:0007548 9.67 SRY SRD5A2 SRD5A1
7 male genitalia development GO:0030539 9.65 SRD5A2 SRD5A1 HSD17B3
8 regulation of systemic arterial blood pressure GO:0003073 9.58 KLK3 AR
9 male sex determination GO:0030238 9.58 SRY GNRH1
10 cellular response to testosterone stimulus GO:0071394 9.57 SRD5A1 AR
11 prostate gland growth GO:0060736 9.56 CYP19A1 AR
12 cell-cell signaling GO:0007267 9.56 SRD5A2 POMC PGR INHA GNRH1 ESR2
13 female genitalia development GO:0030540 9.55 SRD5A1 CYP19A1
14 steroid biosynthetic process GO:0006694 9.55 SRD5A2 SRD5A1 HSD17B3 CYP3A4 CYP19A1
15 androgen catabolic process GO:0006710 9.54 SRD5A1 CYP19A1
16 androgen biosynthetic process GO:0006702 9.54 SRD5A2 SRD5A1 HSD17B3
17 tertiary branching involved in mammary gland duct morphogenesis GO:0060748 9.52 PGR AR
18 testosterone biosynthetic process GO:0061370 9.43 SRD5A2 HSD17B3 CYP19A1
19 androgen metabolic process GO:0008209 9.02 SRD5A2 SRD5A1 ESR1 CYP3A4 CYP19A1

Molecular functions related to Gynecomastia according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 10.03 SRY PGR NR3C2 ESR2 ESR1 AR
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.01 SRY PGR NR3C2 ESR2 ESR1 AR
3 sequence-specific DNA binding GO:0043565 10 PHF6 PGR NR3C2 ESR2 ESR1 AR
4 enzyme binding GO:0019899 9.88 PHF6 PGR ESR2 ESR1 CYP3A4 AR
5 lipid binding GO:0008289 9.85 SHBG PGR NR3C2 ESR2 ESR1 AR
6 ATPase binding GO:0051117 9.72 PGR ESR1 AR
7 steroid hormone receptor activity GO:0003707 9.65 PGR NR3C2 ESR2 ESR1 AR
8 nuclear receptor activity GO:0004879 9.62 PGR ESR2 ESR1 AR
9 repressing transcription factor binding GO:0070491 9.55 PGR NR3C2 ESR2 ESR1 AR
10 estrogen receptor activity GO:0030284 9.51 ESR2 ESR1
11 estrogen response element binding GO:0034056 9.49 ESR2 ESR1
12 androgen binding GO:0005497 9.48 SHBG AR
13 cholestenone 5-alpha-reductase activity GO:0047751 9.46 SRD5A2 SRD5A1
14 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 9.43 SRD5A2 SRD5A1
15 hormone activity GO:0005179 9.43 PRL POMC INHA GNRH1 CGB5 CGA
16 steroid binding GO:0005496 9.17 SHBG PGR NR3C2 ESR2 ESR1 CYP3A4

Sources for Gynecomastia

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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