Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the breast (HP:0000769)help
Parent Node:
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Abnormal breast morphology (HP:0031093)help
..Starting node
..expand
Gynecomastia (HP:0000771)help
Term ID: 771
Name: Gynecomastia
Synonym: Enlarged male breast; Gynaecomastia
Definition: Abnormal development of large mammary glands in males resulting in breast enlargement.
Comments:
Reference: HP:0000771
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal nipple morphology (HP:0004404) help
..expandAplasia/Hypoplasia of the breasts (HP:0010311) help
..expandAsymmetry of the breasts (HP:0010312) help
..expandBreast hypertrophy (HP:0010313) help
..expandHypoplastic areola (HP:0100853) help
..expandNeoplasm of the breast (HP:0100013) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000771HP:0000771Gynecomastia0AIP CL E G H90492965ORPHA1112273358605555
HP:0000771HP:0000771Gynecomastia0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM112269391164730
HP:0000771HP:0000771Gynecomastia0AKT2 CL E G H208293964ORPHA1746392164731
HP:0000771HP:0000771Gynecomastia0AKT2 CL E G H208240900Hypoglycemia, neonatal, simulating foetopathia diabetica240900C1855860OMIM1746392164731
HP:0000771HP:0000771Gynecomastia0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0000771HP:0000771Gynecomastia0ANOS1 CL E G H3730432ArbovirosisORPHA11913466211300836
HP:0000771HP:0000771Gynecomastia0ANOS1 CL E G H3730308700Kallmann syndrome 1308700C1563719OMIM11913466211300836
HP:0000771HP:0000771Gynecomastia0AR CL E G H367481ORPHA1627400644313700
HP:0000771HP:0000771Gynecomastia0AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1627400644313700
HP:0000771HP:0000771Gynecomastia0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1627400644313700
HP:0000771HP:0000771Gynecomastia0AR CL E G H367312300Partial androgen insensitivity syndrome312300C0268301OMIM1627400644313700
HP:0000771HP:0000771Gynecomastia0AXL CL E G H558146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1942905109135
HP:0000771HP:0000771Gynecomastia0CCDC141 CL E G H285025146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM116626821616031
HP:0000771HP:0000771Gynecomastia0CDH23 CL E G H640722965ORPHA1361143713733605516
HP:0000771HP:0000771Gynecomastia0CDH23 CL E G H6407291347ORPHA1361143713733605516
HP:0000771HP:0000771Gynecomastia0CHD7 CL E G H55636432ArbovirosisORPHA1884126620626608892
HP:0000771HP:0000771Gynecomastia0CYP11A1 CL E G H1583289548ORPHA130922590118485
HP:0000771HP:0000771Gynecomastia0CYP11A1 CL E G H1583168558ORPHA130922590118485
HP:0000771HP:0000771Gynecomastia0CYP17A1 CL E G H1586202110Deficiency of steroid 17-alpha-monooxygenase202110C0268285OMIM11301272593609300
HP:0000771HP:0000771Gynecomastia0CYP19A1 CL E G H1588139300Familial gynecomastia, due to increased aromatase activity139300C1970109OMIM1731512594107910
HP:0000771HP:0000771Gynecomastia0CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM13031982600613815
HP:0000771HP:0000771Gynecomastia0DMRT3 CL E G H58524251510ORPHA1119313909614754
HP:0000771HP:0000771Gynecomastia0DUSP6 CL E G H1848432ArbovirosisORPHA15243072602748
HP:0000771HP:0000771Gynecomastia0DUSP6 CL E G H1848146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM15243072602748
HP:0000771HP:0000771Gynecomastia0FEZF1 CL E G H389549146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM134122788613301
HP:0000771HP:0000771Gynecomastia0FGF17 CL E G H8822432ArbovirosisORPHA15823673603725
HP:0000771HP:0000771Gynecomastia0FGF17 CL E G H8822146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM15823673603725
HP:0000771HP:0000771Gynecomastia0FGF8 CL E G H2253432ArbovirosisORPHA141543686600483
HP:0000771HP:0000771Gynecomastia0FGFR1 CL E G H2260432ArbovirosisORPHA12653883688136350
HP:0000771HP:0000771Gynecomastia0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM12653883688136350
HP:0000771HP:0000771Gynecomastia0FLRT3 CL E G H23767146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM17413762604808
HP:0000771HP:0000771Gynecomastia0FMR1 CL E G H2332261483ORPHA1812813775309550
HP:0000771HP:0000771Gynecomastia0GATA4 CL E G H2626251510ORPHA11713414173600576
HP:0000771HP:0000771Gynecomastia0GNRH1 CL E G H2796432ArbovirosisORPHA112974419152760
HP:0000771HP:0000771Gynecomastia0GNRH1 CL E G H2796146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM112974419152760
HP:0000771HP:0000771Gynecomastia0GNRHR CL E G H2798432ArbovirosisORPHA1591584421138850
HP:0000771HP:0000771Gynecomastia0GNRHR CL E G H2798146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1591584421138850
HP:0000771HP:0000771Gynecomastia0HDAC8 CL E G H558693459ORPHA15622713315300269
HP:0000771HP:0000771Gynecomastia0HFE CL E G H3077465508ORPHA1611034886613609
HP:0000771HP:0000771Gynecomastia0HS6ST1 CL E G H9394432ArbovirosisORPHA18335201604846
HP:0000771HP:0000771Gynecomastia0HSD17B3 CL E G H3293752ORPHA164965212605573
HP:0000771HP:0000771Gynecomastia0HSD17B3 CL E G H3293264300Testosterone 17-beta-dehydrogenase deficiency264300C0268296OMIM164965212605573
HP:0000771HP:0000771Gynecomastia0HSD3B2 CL E G H328490791ORPHA163925218613890
HP:0000771HP:0000771Gynecomastia0IL17RD CL E G H54756146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1144917616606807
HP:0000771HP:0000771Gynecomastia0INSR CL E G H3643508Acroosteolysis dominant typeORPHA11964076091147670
HP:0000771HP:0000771Gynecomastia0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM111606139605025
HP:0000771HP:0000771Gynecomastia0KISS1 CL E G H3814432ArbovirosisORPHA115256341603286
HP:0000771HP:0000771Gynecomastia0KISS1R CL E G H84634432ArbovirosisORPHA139784510604161
HP:0000771HP:0000771Gynecomastia0KISS1R CL E G H84634614837Hypogonadotropic hypogonadism 8 with or without anosmia614837C3553841OMIM139784510604161
HP:0000771HP:0000771Gynecomastia0LAS1L CL E G H818873459ORPHA1417225726300964
HP:0000771HP:0000771Gynecomastia0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0000771HP:0000771Gynecomastia0LEP CL E G H395266628ORPHA1271056553164160
HP:0000771HP:0000771Gynecomastia0LEP CL E G H3952614962Leptin deficiency or dysfunction614962C3554224OMIM1271056553164160
HP:0000771HP:0000771Gynecomastia0LEPR CL E G H3953179494ORPHA1441446554601007
HP:0000771HP:0000771Gynecomastia0LHB CL E G H3972228300Isolated lutropin deficiency228300C0271582OMIM114366584152780
HP:0000771HP:0000771Gynecomastia0MAP3K1 CL E G H4214251510ORPHA1331076848600982
HP:0000771HP:0000771Gynecomastia0MEN1 CL E G H42212965ORPHA174811317010613733
HP:0000771HP:0000771Gynecomastia0NR0B1 CL E G H190251510ORPHA12552707960300473
HP:0000771HP:0000771Gynecomastia0NR5A1 CL E G H2516251510ORPHA11891057983184757
HP:0000771HP:0000771Gynecomastia0NSMF CL E G H26012432ArbovirosisORPHA1910429843608137
HP:0000771HP:0000771Gynecomastia0NSMF CL E G H26012614838Hypogonadotropic hypogonadism 9 with or without anosmia614838C3553842OMIM1910429843608137
HP:0000771HP:0000771Gynecomastia0PHF6 CL E G H84295127ORPHA12923518145300414
HP:0000771HP:0000771Gynecomastia0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0000771HP:0000771Gynecomastia0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM1573798975171834
HP:0000771HP:0000771Gynecomastia0PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA16137916268603197
HP:0000771HP:0000771Gynecomastia0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19230630074614258
HP:0000771HP:0000771Gynecomastia0POLR3B CL E G H55703146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM15812730348614366
HP:0000771HP:0000771Gynecomastia0PROK2 CL E G H60675432ArbovirosisORPHA1213418455607002
HP:0000771HP:0000771Gynecomastia0PROKR2 CL E G H128674432ArbovirosisORPHA1839815836607123
HP:0000771HP:0000771Gynecomastia0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM165820199588601728
HP:0000771HP:0000771Gynecomastia0RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM115021863612074
HP:0000771HP:0000771Gynecomastia0RNF216 CL E G H544761173CDG syndrome type 3ORPHA11412421698609948
HP:0000771HP:0000771Gynecomastia0RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM161721679609595
HP:0000771HP:0000771Gynecomastia0SEMA3E CL E G H9723146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1416010727608166
HP:0000771HP:0000771Gynecomastia0SMCHD1 CL E G H233472250Familial band heterotopiaORPHA112550029090614982
HP:0000771HP:0000771Gynecomastia0SOX9 CL E G H6662251510ORPHA114915511204608160
HP:0000771HP:0000771Gynecomastia0SPRY4 CL E G H81848432ArbovirosisORPHA1113315533607984
HP:0000771HP:0000771Gynecomastia0SPRY4 CL E G H81848146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1113315533607984
HP:0000771HP:0000771Gynecomastia0SRA1 CL E G H10011146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM162811281603819
HP:0000771HP:0000771Gynecomastia0SRY CL E G H6736251510ORPHA11099611311480000
HP:0000771HP:0000771Gynecomastia0STK11 CL E G H6794175200Peutz-Jeghers syndrome175200C0031269OMIM1466164311389602216
HP:0000771HP:0000771Gynecomastia0TAC3 CL E G H6866432ArbovirosisORPHA1101911521162330
HP:0000771HP:0000771Gynecomastia0TACR3 CL E G H6870432ArbovirosisORPHA1377911528162332
HP:0000771HP:0000771Gynecomastia0VAMP7 CL E G H6845251510ORPHA1212411486300053
HP:0000771HP:0000771Gynecomastia0WDR11 CL E G H55717432ArbovirosisORPHA1189113831606417
HP:0000771HP:0000771Gynecomastia0WDR11 CL E G H55717146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1189113831606417
HP:0000771HP:0000771Gynecomastia0WT1 CL E G H7490251510ORPHA118463512796607102
HP:0000771HP:0000771Gynecomastia0WWOX CL E G H51741251510ORPHA15059612799605131
HP:0000771HP:0000771Gynecomastia0ZBTB20 CL E G H261373042ORPHA12510913503606025
HP:0000771HP:0000771Gynecomastia0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM12510913503606025
HP:0000771HP:0000771Gynecomastia0ZFPM2 CL E G H23414251510ORPHA15214216700603693
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000771HP:0000771Gynecomastia0AKT1 CL E G H207201ORPHA012269391164730
HP:0000771HP:0000771Gynecomastia0ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA01913466211300836
HP:0000771HP:0000771Gynecomastia0AR CL E G H36799429ORPHA0627400644313700
HP:0000771HP:0000771Gynecomastia0AR CL E G H36790797ORPHA0627400644313700
HP:0000771HP:0000771Gynecomastia0CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA016626821616031
HP:0000771HP:0000771Gynecomastia0CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0884126620626608892
HP:0000771HP:0000771Gynecomastia0COQ8A CL E G H56997139485ORPHA04330616812606980
HP:0000771HP:0000771Gynecomastia0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0000771HP:0000771Gynecomastia0CYB5A CL E G H152890796ORPHA071422570613218
HP:0000771HP:0000771Gynecomastia0CYP11B1 CL E G H158490795ORPHA01613222591610613
HP:0000771HP:0000771Gynecomastia0CYP17A1 CL E G H158690796ORPHA01301272593609300
HP:0000771HP:0000771Gynecomastia0CYP17A1 CL E G H158690793ORPHA01301272593609300
HP:0000771HP:0000771Gynecomastia0DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA0411232701120470
HP:0000771HP:0000771Gynecomastia0DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA05243072602748
HP:0000771HP:0000771Gynecomastia0ERMARD CL E G H5578075857ORPHA0214521056615532
HP:0000771HP:0000771Gynecomastia0FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA034122788613301
HP:0000771HP:0000771Gynecomastia0FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA05823673603725
HP:0000771HP:0000771Gynecomastia0FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA041543686600483
HP:0000771HP:0000771Gynecomastia0FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA02653883688136350
HP:0000771HP:0000771Gynecomastia0FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA07413762604808
HP:0000771HP:0000771Gynecomastia0HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA027464877601802
HP:0000771HP:0000771Gynecomastia0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA0181455154601688
HP:0000771HP:0000771Gynecomastia0HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA08335201604846
HP:0000771HP:0000771Gynecomastia0IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA0144917616606807
HP:0000771HP:0000771Gynecomastia0KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA039784510604161
HP:0000771HP:0000771Gynecomastia0KLLN CL E G H100144748201ORPHA0823837212612105
HP:0000771HP:0000771Gynecomastia0NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA0910429843608137
HP:0000771HP:0000771Gynecomastia0PIK3CA CL E G H5290201ORPHA0573798975171834
HP:0000771HP:0000771Gynecomastia0PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA0213418455607002
HP:0000771HP:0000771Gynecomastia0PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA0839815836607123
HP:0000771HP:0000771Gynecomastia0PTEN CL E G H5728201ORPHA065820199588601728
HP:0000771HP:0000771Gynecomastia0SDHB CL E G H6390201ORPHA027966710681185470
HP:0000771HP:0000771Gynecomastia0SDHC CL E G H6391201ORPHA06241510682602413
HP:0000771HP:0000771Gynecomastia0SDHD CL E G H6392201ORPHA017436110683602690
HP:0000771HP:0000771Gynecomastia0SEC23B CL E G H10483201ORPHA012614310702610512
HP:0000771HP:0000771Gynecomastia0SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA0318210723603961
HP:0000771HP:0000771Gynecomastia0SH3PXD2B CL E G H285590137834ORPHA02026629242613293
HP:0000771HP:0000771Gynecomastia0SLC29A3 CL E G H55315168569ORPHA02619023096612373
HP:0000771HP:0000771Gynecomastia0SLC52A2 CL E G H7958197229ORPHA02726030224607882
HP:0000771HP:0000771Gynecomastia0SLC52A3 CL E G H11327897229ORPHA04424316187613350
HP:0000771HP:0000771Gynecomastia0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA0766510955601460
HP:0000771HP:0000771Gynecomastia0SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA015119211190602229
HP:0000771HP:0000771Gynecomastia0SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA0113315533607984
HP:0000771HP:0000771Gynecomastia0SRY CL E G H67361772ORPHA01099611311480000
HP:0000771HP:0000771Gynecomastia0TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA0377911528162332
HP:0000771HP:0000771Gynecomastia0WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA0189113831606417


Genes (90) :AIP AKT1 AKT2 ALMS1 ANOS1 AR AXL CCDC141 CDH23 CHD7 COQ8A CUL4B CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 DCC DMRT3 DUSP6 ERMARD FEZF1 FGF17 FGF8 FGFR1 FLRT3 FMR1 GATA4 GNRH1 GNRHR HDAC8 HESX1 HFE HPGD HS6ST1 HSD17B3 HSD3B2 IL17RD INSR ITGA3 KISS1 KISS1R KLLN LAS1L LEP LEPR LHB MAP3K1 MEN1 NR0B1 NR5A1 NSMF PHF6 PIK3CA PNPLA6 POLR3A POLR3B PROK2 PROKR2 PTEN RBM28 RNF216 RSPO1 SDHB SDHC SDHD SEC23B SEMA3A SEMA3E SH3PXD2B SLC29A3 SLC52A2 SLC52A3 SLCO2A1 SMCHD1 SOX10 SOX9 SPRY4 SRA1 SRY STK11 TAC3 TACR3 VAMP7 WDR11 WT1 WWOX ZBTB20 ZFPM2

Diseases (62) :2965 201 615109 293964 240900 203800 478 432 308700 481 90797 99429 300068 313200 312300 146110 91347 139485 300354 90796 289548 168558 90795 90793 202110 139300 201910 251510 75857 147950 261483 3459 465508 2796 752 264300 90791 508 614748 614837 309585 66628 614962 179494 228300 614838 127 301900 615108 1173 264090 158350 612079 610644 137834 168569 97229 2250 1772 175200 3042 259050
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.