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 44 D006177
NCIt 50 C3073
SNOMED-CT 67 155963008
ICD10 32 N62
UMLS 71 C0018418

Summaries for Gynecomastia

Disease Ontology : 12 A disorder of sexual development 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 androgen insensitivity, partial and aromatase excess syndrome. 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 Anastrozole and Tamoxifen have been mentioned in the context of this disorder. Affiliated tissues include breast, prostate and testis, and related phenotypes are endocrine/exocrine gland and integument

Wikipedia : 74 Gynecomastia (also spelled Gynaecomastia),[a] is the abnormal non-cancerous enlargement of one or both... more...

Related Diseases for Gynecomastia

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

(show top 50) (show all 511)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity, partial 31.9 SRD5A1 SHBG CYP19A1 AR
2 aromatase excess syndrome 31.6 SHBG POMC PGR GNRH1 ESR2 ESR1
3 hypogonadotropic hypogonadism 31.5 SHBG PRL GNRH1 CYP19A1 AR
4 in situ carcinoma 30.9 PGR ESR1 CYP19A1
5 androgen insensitivity syndrome 30.8 SRY SRD5A2 SRD5A1 SHBG HSD17B3 CGA
6 hypogonadism 30.8 SHBG PRL GNRH1 AR
7 hyperthyroidism 30.7 SHBG PRL POMC CGA
8 ductal carcinoma in situ 30.6 PGR ESR2 ESR1 CYP19A1 AR
9 sertoli cell tumor 30.6 PGR INHA CYP19A1 AR
10 leydig cell tumor 30.6 PRL INHA GNRH1 CYP19A1
11 breast fibroadenoma 30.4 PGR ESR1 CYP19A1 AR
12 hyperprolactinemia 30.4 SHBG PRL POMC GNRH1
13 mammary paget's disease 30.2 PGR ESR1 AR
14 adrenal cortical carcinoma 30.2 POMC INHA CYP19A1
15 nipple carcinoma 30.2 PGR ESR1
16 seminoma 30.1 INHA ESR2 CGB5 CGA
17 intracystic papillary adenoma 30.0 PRL PGR ESR1
18 sweat gland cancer 30.0 PGR ESR1 AR
19 breast cyst 30.0 PRL KLK3 CYP19A1
20 teratoma 30.0 ESR1 CGB5 CGA
21 breast carcinoma in situ 30.0 PGR ESR1 CYP19A1
22 lobular neoplasia 30.0 PGR ESR2 ESR1
23 acne 29.9 SRD5A1 SHBG PRL POMC AR
24 prostatic adenoma 29.9 SRD5A1 SHBG PRL KLK3 AR
25 female breast cancer 29.9 PGR KLK3 ESR1 AR
26 alopecia 29.9 SRD5A2 SRD5A1 SHBG PRL AR
27 testicular cancer 29.9 SHBG GNRH1 CYP3A4 CGB5 CGA AR
28 breast disease 29.9 SHBG PRL POMC PGR KLK3 ESR2
29 gonadal dysgenesis 29.9 SRY SHBG CGB5
30 estrogen excess 29.8 SHBG PRL PGR GNRH1 ESR2 ESR1
31 prostatic hyperplasia, benign 29.8 SRD5A2 SRD5A1 KLK3 AR
32 hypospadias 29.8 SRY SRD5A2 SRD5A1 HSD17B3 ESR2 ESR1
33 anxiety 29.8 PRL POMC ESR1 CYP3A4
34 pseudohermaphroditism 29.8 SRY SRD5A2 SRD5A1 POMC HSD17B3 CYP19A1
35 testicular germ cell cancer 29.7 ESR2 ESR1 CYP3A4 AR
36 varicocele 29.7 SHBG PRL GNRH1 CGA AR
37 ovarian cyst 29.7 PRL GNRH1 CYP19A1
38 pituitary adenoma, prolactin-secreting 29.6 PRL POMC GNRH1 ESR2 ESR1
39 transsexualism 29.6 SRD5A2 ESR2 CYP19A1 AR
40 hermaphroditism 29.6 SRY SRD5A2 SHBG CGA AR
41 hypothyroidism 29.6 SHBG PRL POMC GNRH1 CGA
42 impotence 29.5 SRD5A1 SHBG PRL POMC KLK3 GNRH1
43 oligospermia 29.5 SRD5A2 PRL GNRH1 AR
44 germ cell cancer 29.5 ESR2 ESR1 CYP3A4 CGA AR
45 lipoid congenital adrenal hyperplasia 29.4 SRD5A1 POMC GNRH1 CYP19A1
46 alopecia, androgenetic, 1 29.4 SRD5A2 SRD5A1 SHBG CYP19A1 AR
47 prostate disease 29.4 SRD5A2 SRD5A1 KLK3 CYP19A1 AR
48 acromegaly 29.4 SHBG PRL POMC GNRH1
49 leiomyoma 29.4 PGR GNRH1 ESR2 ESR1 CYP19A1
50 pituitary gland disease 29.4 PRL POMC GNRH1 CGA

Graphical network of the top 20 diseases related to Gynecomastia:



Diseases related to Gynecomastia

Symptoms & Phenotypes for Gynecomastia

MGI Mouse Phenotypes related to Gynecomastia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.1 AR CGA CYP19A1 ESR1 ESR2 GNRH1
2 integument MP:0010771 9.91 AR CYP19A1 ESR1 ESR2 GNRH1 PGR
3 liver/biliary system MP:0005370 9.76 AR CYP19A1 ESR1 ESR2 GNRH1 INHA
4 neoplasm MP:0002006 9.56 AR ESR1 ESR2 GNRH1 INHA PGR
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 all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational Phase 3 120511-73-1 2187
2
Tamoxifen Approved Phase 3 10540-29-1 2733526
3
Bicalutamide Approved Phase 3 90357-06-5 56069 2375
4
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
5 Hormone Antagonists Phase 3
6 Estrogens Phase 3
7 Aromatase Inhibitors Phase 3
8 Hormones Phase 3
9 Estrogen Antagonists Phase 3
10 Estrogen Receptor Antagonists Phase 3
11 Antineoplastic Agents, Hormonal Phase 3
12 Estrogen Receptor Modulators Phase 3
13 Androgen Antagonists Phase 3
14 Androgens Phase 3
15 Vasodilator Agents Phase 3
16
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
17
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
18
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474
19
Racepinephrine Approved 329-65-7 838
20
Lidocaine Approved, Vet_approved 137-58-6 3676
21
Epinephrine Approved, Vet_approved 51-43-4 5816
22
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
23 Hemostatics
24 Anesthetics, Local
25 Anesthetics
26 Epinephryl borate
27 Retinol palmitate
28 retinol

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Topical Nitroglycerin as a Mechanism for Cutaneous Vaso-modulation and Improved Wound Healing After Breast Reduction Recruiting NCT04321967 Phase 3 Nitroglycerin Paste;Dermabond
4 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™)
5 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
6 Targeted Fat Reduction of Pseudogynecomastia in the Male Breast Using the ZELTIQ Coolsculpting System Unknown status NCT01791660
7 A Randomized Controlled Trial Modified Benelli Procedure For Subcutaneous Mastectomy In Gynecomastia Completed NCT04063722
8 Ultrasound Guided Modified Pectoral Plane (PECS II )Block Versus Erector Spinae Plane (ESP) Block for Perioperative Analgesia of Surgical Treatment of Gynecomastia Completed NCT04221074
9 Post-massive Weight Loss Chest Contouring: Inferior Pedicle Technique in Pseudo-gynecomastia Correction Completed NCT03319862
10 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
11 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 51 :


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, Testis, Pituitary, Skin, Spinal Cord, Heart

Publications for Gynecomastia

Articles related to Gynecomastia:

(show top 50) (show all 3209)
# Title Authors PMID Year
1
[The use of aromatase inhibitors in children]. 54 61
20088436 2009
2
Venlafaxine-induced gynecomastia in a young patient: a case report. 61 54
18978497 2009
3
Mineralocorticoid receptor antagonists and endothelial function. 54 61
18729003 2008
4
Effect of hyperprolactinemia during development in children and adolescents. 61 54
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]. 61 54
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. 61 54
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. 54 61
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. 54 61
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. 54 61
16280763 2005
19
[Aromatase-dependent gynecomastia in a patient with adenocarcinoma of the lung]. 54 61
16238933 2005
20
Leptin levels in boys with pubertal gynecomastia. 61 54
16355805 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. 61 54
15947469 2005
23
Dominant transmission of prepubertal gynecomastia due to serum estrone excess: hormonal, biochemical, and genetic analysis in a large kindred. 54 61
15483104 2005
24
Possible involvement of aromatase overexpression induced by cyclo-oxygenase-2 in the pathogenesis of idiopathic gynecomastia. 54 61
16392624 2005
25
The effect of tamoxifen on sex hormone binding globulin in adolescents with pubertal gynecomastia. 54 61
15379424 2004
26
Gynecomastia due to hormone therapy for advanced prostate cancer: a report of ten surgically treated cases and a review of treatment options. 61 54
15510985 2004
27
Beneficial effects of raloxifene and tamoxifen in the treatment of pubertal gynecomastia. 61 54
15238910 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. 61 54
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. 61 54
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. 61 54
12477487 2002
37
[An elderly case of advanced gastric cancer with gynecomastia and high serum levels of hCG]. 61 54
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? 54 61
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. 61 54
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

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 SRD5A2 SRD5A1 POMC HSD17B3 CYP19A1 CGA
17
Show member pathways
10.93 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 organelle membrane GO:0031090 8.92 SRD5A2 SRD5A1 CYP3A4 CYP19A1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.18 PHF6 PGR NR3C2 ESR2 ESR1 CGB5
2 signal transduction GO:0007165 10.14 PRL POMC PGR NR3C2 INHA GNRH1
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 SRY POMC PGR ESR2 ESR1 CGA
4 transcription initiation from RNA polymerase II promoter GO:0006367 9.83 PGR NR3C2 ESR2 ESR1 AR
5 male gonad development GO:0008584 9.72 SRD5A2 SRD5A1 INHA ESR1 AR
6 cellular response to estradiol stimulus GO:0071392 9.7 SRD5A1 ESR2 ESR1
7 sex differentiation GO:0007548 9.67 SRY SRD5A2 SRD5A1
8 intracellular estrogen receptor signaling pathway GO:0030520 9.65 ESR2 ESR1 AR
9 steroid biosynthetic process GO:0006694 9.65 SRD5A2 SRD5A1 HSD17B3 CYP3A4 CYP19A1
10 male genitalia development GO:0030539 9.63 SRD5A2 SRD5A1 HSD17B3
11 cellular response to estrogen stimulus GO:0071391 9.61 ESR1 AR
12 mammary gland alveolus development GO:0060749 9.6 ESR1 AR
13 regulation of systemic arterial blood pressure GO:0003073 9.59 KLK3 AR
14 male sex determination GO:0030238 9.58 SRY GNRH1
15 cellular response to testosterone stimulus GO:0071394 9.57 SRD5A1 AR
16 cell-cell signaling GO:0007267 9.56 SRD5A2 POMC PGR INHA GNRH1 ESR2
17 testosterone biosynthetic process GO:0061370 9.55 SRD5A2 HSD17B3
18 androgen catabolic process GO:0006710 9.54 SRD5A1 CYP19A1
19 androgen biosynthetic process GO:0006702 9.54 SRD5A2 SRD5A1 HSD17B3
20 tertiary branching involved in mammary gland duct morphogenesis GO:0060748 9.51 PGR AR
21 androgen metabolic process GO:0008209 9.46 SRD5A2 SRD5A1 ESR1 CYP3A4
22 intracellular steroid hormone receptor signaling pathway GO:0030518 9.02 PGR NR3C2 ESR2 ESR1 AR

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 9.99 SRY PGR NR3C2 ESR2 ESR1 AR
2 oxidoreductase activity GO:0016491 9.96 SRD5A2 SRD5A1 HSD17B3 CYP3A4 CYP19A1
3 sequence-specific DNA binding GO:0043565 9.93 PGR NR3C2 ESR2 ESR1 AR
4 enzyme binding GO:0019899 9.85 PHF6 PGR ESR2 ESR1 CYP3A4 AR
5 lipid binding GO:0008289 9.8 SHBG PGR NR3C2 ESR2 ESR1 AR
6 ATPase binding GO:0051117 9.72 PGR ESR1 AR
7 steroid hormone receptor activity GO:0003707 9.56 PGR NR3C2 ESR2 ESR1
8 nuclear receptor activity GO:0004879 9.55 PGR NR3C2 ESR2 ESR1 AR
9 RNA polymerase II transcription coactivator binding GO:0001225 9.52 PGR AR
10 estrogen receptor activity GO:0030284 9.49 ESR2 ESR1
11 androgen binding GO:0005497 9.48 SHBG AR
12 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 9.46 SRD5A2 SRD5A1
13 cholestenone 5-alpha-reductase activity GO:0047751 9.43 SRD5A2 SRD5A1
14 hormone activity GO:0005179 9.43 PRL POMC INHA GNRH1 CGB5 CGA
15 estrogen response element binding GO:0034056 9.4 ESR2 ESR1
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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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