Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the genital system (HP:0000078)help
Grandparent Node:
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Neoplasm of the genitourinary tract (HP:0007379)help
Parent Node:
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Abnormality of male external genitalia (HP:0000032)help
Parent Node:
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Genital neoplasm (HP:0010787)help
..Starting node
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Neoplasm of the male external genitalia (HP:0100848)help
Term ID: 100848
Name: Neoplasm of the male external genitalia
Synonym: Neoplasia of the male external genitalia
Definition: A tumor (abnormal growth of tissue) of the male external genitalia.
Comments:
Reference: HP:0100848
Genes and Diseases:
 
       Child Nodes:
........expandTesticular neoplasm (HP:0010788) help
................... HP:0000030 Testicular gonadoblastoma
................... HP:0025451 Testicular adrenal rest tumor
................... HP:0100005 Testicular mesothelioma
................... HP:0100616 Testicular teratoma
................... HP:0100617 Testicular seminoma
................... HP:0100618 Leydig cell neoplasia
................... HP:0100619 Sertoli cell neoplasm
........expandNeoplasm of the scrotum (HP:0100849) help
........expandNeoplasm of the penis (HP:0100850) help

 Sister Nodes: 
..expandFallopian tube carcinoma (HP:0030394) help
..expandGonadal neoplasm (HP:0010785) help
..expandUterine neoplasm (HP:0010784) help
..expandVaginal neoplasm (HP:0100650) help
..expandVulvar neoplasm (HP:0030416) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100848HP:0100848Neoplasm of the male external genitalia0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0100848HP:0100848Neoplasm of the male external genitalia0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndrome125
HP:0100848HP:0100848Neoplasm of the male external genitalia0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0100848HP:0100848Neoplasm of the male external genitalia0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0100848HP:0100848Neoplasm of the male external genitalia0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0100848HP:0100848Neoplasm of the male external genitalia0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0100848HP:0100848Neoplasm of the male external genitalia0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0100848HP:0100848Neoplasm of the male external genitalia0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0100848HP:0100848Neoplasm of the male external genitalia0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0100848HP:0100848Neoplasm of the male external genitalia0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0100848HP:0100848Neoplasm of the male external genitalia0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0100848HP:0100848Neoplasm of the male external genitalia0EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumor
HP:0100848HP:0100848Neoplasm of the male external genitalia0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumor8
HP:0100848HP:0100848Neoplasm of the male external genitalia0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesis87
HP:0100848HP:0100848Neoplasm of the male external genitalia0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0100848HP:0100848Neoplasm of the male external genitalia0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0100848HP:0100848Neoplasm of the male external genitalia0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0100848HP:0100848Neoplasm of the male external genitalia0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0100848HP:0100848Neoplasm of the male external genitalia0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0100848HP:0100848Neoplasm of the male external genitalia0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesis13
HP:0100848HP:0100848Neoplasm of the male external genitalia0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiency94
HP:0100848HP:0100848Neoplasm of the male external genitalia0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndrome1
HP:0100848HP:0100848Neoplasm of the male external genitalia0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiency26
HP:0100848HP:0100848Neoplasm of the male external genitalia0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiency13
HP:0100848HP:0100848Neoplasm of the male external genitalia0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesis48
HP:0100848HP:0100848Neoplasm of the male external genitalia0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesis38
HP:0100848HP:0100848Neoplasm of the male external genitalia0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100848HP:0100848Neoplasm of the male external genitalia0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0100848HP:0100848Neoplasm of the male external genitalia0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0100848HP:0100848Neoplasm of the male external genitalia0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0100848HP:0100848Neoplasm of the male external genitalia0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100848HP:0100848Neoplasm of the male external genitalia0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0100848HP:0100848Neoplasm of the male external genitalia0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0100848HP:0100848Neoplasm of the male external genitalia0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesis109
HP:0100848HP:0100848Neoplasm of the male external genitalia0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesis23
HP:0100848HP:0100848Neoplasm of the male external genitalia0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiency45
HP:0100848HP:0100848Neoplasm of the male external genitalia0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0100848HP:0100848Neoplasm of the male external genitalia0STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0100848HP:0100848Neoplasm of the male external genitalia0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0100848HP:0100848Neoplasm of the male external genitalia0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndrome911
HP:0100848HP:0100848Neoplasm of the male external genitalia0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiency85
HP:0100848HP:0100848Neoplasm of the male external genitalia0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0100848HP:0100848Neoplasm of the male external genitalia0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesis177
HP:0100848HP:0100848Neoplasm of the male external genitalia0WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumor177
HP:0100848HP:0100848Neoplasm of the male external genitalia0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesis149
HP:0100848HP:0100848Neoplasm of the male external genitalia0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesis31
HP:0100848HP:0100850Neoplasm of the penis1 CL E G H
HP:0100848HP:0010788Testicular neoplasm1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0100848HP:0010788Testicular neoplasm1AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040283 - Occasional125
HP:0100848HP:0010788Testicular neoplasm1CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040284 - Very rare169
HP:0100848HP:0010788Testicular neoplasm1CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040284 - Very rare169
HP:0100848HP:0010788Testicular neoplasm1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040283 - Occasional102
HP:0100848HP:0010788Testicular neoplasm1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0100848HP:0010788Testicular neoplasm1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0100848HP:0010788Testicular neoplasm1CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0100848HP:0010788Testicular neoplasm1DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0100848HP:0010788Testicular neoplasm1DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0100848HP:0010788Testicular neoplasm1DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0100848HP:0010788Testicular neoplasm1EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumorHP:0040283 - Occasional
HP:0100848HP:0100849Neoplasm of the scrotum1FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumorHP:0040284 - Very rare8
HP:0100848HP:0010788Testicular neoplasm1GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesis87
HP:0100848HP:0010788Testicular neoplasm1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0100848HP:0010788Testicular neoplasm1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0100848HP:0010788Testicular neoplasm1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040284 - Very rare283
HP:0100848HP:0010788Testicular neoplasm1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040284 - Very rare283
HP:0100848HP:0010788Testicular neoplasm1KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0100848HP:0010788Testicular neoplasm1MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesis13
HP:0100848HP:0010788Testicular neoplasm1MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiency94
HP:0100848HP:0010788Testicular neoplasm1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0100848HP:0010788Testicular neoplasm1MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiency26
HP:0100848HP:0010788Testicular neoplasm1NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiency13
HP:0100848HP:0010788Testicular neoplasm1NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesis48
HP:0100848HP:0010788Testicular neoplasm1NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesis38
HP:0100848HP:0010788Testicular neoplasm1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100848HP:0010788Testicular neoplasm1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0100848HP:0010788Testicular neoplasm1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0100848HP:0010788Testicular neoplasm1PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0100848HP:0010788Testicular neoplasm1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100848HP:0010788Testicular neoplasm1PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0100848HP:0010788Testicular neoplasm1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0100848HP:0010788Testicular neoplasm1SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesis109
HP:0100848HP:0010788Testicular neoplasm1SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesis23
HP:0100848HP:0010788Testicular neoplasm1STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiency45
HP:0100848HP:0010788Testicular neoplasm1STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0100848HP:0010788Testicular neoplasm1STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0100848HP:0010788Testicular neoplasm1STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0100848HP:0010788Testicular neoplasm1TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911
HP:0100848HP:0010788Testicular neoplasm1TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiency85
HP:0100848HP:0010788Testicular neoplasm1VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0100848HP:0010788Testicular neoplasm1WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesis177
HP:0100848HP:0010788Testicular neoplasm1WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumorHP:0040283 - Occasional177
HP:0100848HP:0010788Testicular neoplasm1WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesis149
HP:0100848HP:0010788Testicular neoplasm1ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesis31
HP:0100848HP:0100616Testicular teratoma2 CL E G H
HP:0100848HP:0100005Testicular mesothelioma2 CL E G H
HP:0100848HP:0034380Juvenile type testicular granulosa cell tumor2 CL E G H
HP:0100848HP:0025451Testicular adrenal rest tumor2CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyHP:0040283 - Occasional112
HP:0100848HP:0000030Testicular gonadoblastoma2DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional2
HP:0100848HP:0100617Testicular seminoma2DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent670
HP:0100848HP:0100619Sertoli cell neoplasm2DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent670
HP:0100848HP:0000030Testicular gonadoblastoma2DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional1
HP:0100848HP:0000030Testicular gonadoblastoma2GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional87
HP:0100848HP:0100617Testicular seminoma2H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0100848HP:0100617Testicular seminoma2IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0100848HP:0100619Sertoli cell neoplasm2KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent
HP:0100848HP:0100617Testicular seminoma2KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent
HP:0100848HP:0000030Testicular gonadoblastoma2MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional13
HP:0100848HP:0100618Leydig cell neoplasia2MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare94
HP:0100848HP:0025451Testicular adrenal rest tumor2MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional94
HP:0100848HP:0100618Leydig cell neoplasia2MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare26
HP:0100848HP:0025451Testicular adrenal rest tumor2MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional26
HP:0100848HP:0100618Leydig cell neoplasia2NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare13
HP:0100848HP:0025451Testicular adrenal rest tumor2NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional13
HP:0100848HP:0000030Testicular gonadoblastoma2NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional48
HP:0100848HP:0000030Testicular gonadoblastoma2NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional38
HP:0100848HP:0025451Testicular adrenal rest tumor2PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100848HP:0100618Leydig cell neoplasia2PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100848HP:0100619Sertoli cell neoplasm2PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040284 - Very rare13
HP:0100848HP:0100619Sertoli cell neoplasm2PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040284 - Very rare134
HP:0100848HP:0025451Testicular adrenal rest tumor2PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100848HP:0100618Leydig cell neoplasia2PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100848HP:0000030Testicular gonadoblastoma2SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional109
HP:0100848HP:0000030Testicular gonadoblastoma2SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional23
HP:0100848HP:0025451Testicular adrenal rest tumor2STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional45
HP:0100848HP:0100618Leydig cell neoplasia2STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare45
HP:0100848HP:0100619Sertoli cell neoplasm2STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0100848HP:0100617Testicular seminoma2STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040283 - Occasional19
HP:0100848HP:0100618Leydig cell neoplasia2TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare85
HP:0100848HP:0025451Testicular adrenal rest tumor2TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional85
HP:0100848HP:0000030Testicular gonadoblastoma2VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional2
HP:0100848HP:0000030Testicular gonadoblastoma2WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional177
HP:0100848HP:0000030Testicular gonadoblastoma2WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional149
HP:0100848HP:0000030Testicular gonadoblastoma2ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional31
HP:0100848HP:0008204Precocious puberty with Sertoli cell tumor3STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740


Genes (40) :AKT1 AR CDC73 CDKN1B CDKN2A CHEK2 CYP11B1 DHX37 DICER1 DMRT3 EWSR1 FLI1 GATA4 H19-ICR IGF2 KANSL1 KEAP1 MAP3K1 MC2R MDM2 MRAP NNT NR0B1 NR5A1 PDE11A PDE8B PRKACA PRKAR1A PTEN SOX9 SRY STAR STK11 STS TP53 TXNRD2 VAMP7 WT1 WWOX ZFPM2

Diseases (20) :ORPHA:744 ORPHA:99429 ORPHA:99880 ORPHA:143 ORPHA:276152 ORPHA:524 ORPHA:90795 ORPHA:251510 ORPHA:276399 ORPHA:83469 ORPHA:370348 OMIM:180860 ORPHA:363958 ORPHA:363965 ORPHA:361 ORPHA:1359 ORPHA:189439 OMIM:175200 OMIM:308100 ORPHA:281090
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.