Human Phenotype Ontology 
Grandparent Node:
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Abnormality of male external genitalia (HP:0000032)help
Grandparent Node:
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Genital neoplasm (HP:0010787)help
Parent Node:
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Abnormal testis morphology (HP:0000035)help
Parent Node:
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Gonadal neoplasm (HP:0010785)help
Parent Node:
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Neoplasm of the male external genitalia (HP:0100848)help
..Starting node
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Testicular neoplasm (HP:0010788)help
Term ID: 10788
Name: Testicular neoplasm
Synonym: Testicular cancer; Testicular neoplasia; Testicular tumor; Testicular tumour
Definition: The presence of a neoplasm of the testis.
Comments:
Reference: HP:0010788
Genes and Diseases:
 
       Child Nodes:
........expandTesticular gonadoblastoma (HP:0000030) help
........expandTesticular adrenal rest tumor (HP:0025451) help
........expandTesticular mesothelioma (HP:0100005) help
........expandTesticular teratoma (HP:0100616) help
........expandTesticular seminoma (HP:0100617) help
........expandLeydig cell neoplasia (HP:0100618) help
........expandSertoli cell neoplasm (HP:0100619) help
................... HP:0008204 Precocious puberty with Sertoli cell tumor

 Sister Nodes: 
..expandNeoplasm of the penis (HP:0100850) help
..expandNeoplasm of the scrotum (HP:0100849) 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:0010788HP:0010788Testicular neoplasm0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0010788HP:0010788Testicular neoplasm0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040283 - Occasional125
HP:0010788HP:0010788Testicular neoplasm0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040284 - Very rare169
HP:0010788HP:0010788Testicular neoplasm0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040284 - Very rare169
HP:0010788HP:0010788Testicular neoplasm0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040283 - Occasional102
HP:0010788HP:0010788Testicular neoplasm0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0010788HP:0010788Testicular neoplasm0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0010788HP:0010788Testicular neoplasm0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0010788HP:0010788Testicular neoplasm0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0010788HP:0010788Testicular neoplasm0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0010788HP:0010788Testicular neoplasm0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0010788HP:0010788Testicular neoplasm0EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumorHP:0040283 - Occasional
HP:0010788HP:0010788Testicular neoplasm0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesis87
HP:0010788HP:0010788Testicular neoplasm0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0010788HP:0010788Testicular neoplasm0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0010788HP:0010788Testicular neoplasm0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040284 - Very rare283
HP:0010788HP:0010788Testicular neoplasm0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040284 - Very rare283
HP:0010788HP:0010788Testicular neoplasm0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0010788HP:0010788Testicular neoplasm0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesis13
HP:0010788HP:0010788Testicular neoplasm0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiency94
HP:0010788HP:0010788Testicular neoplasm0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0010788HP:0010788Testicular neoplasm0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiency26
HP:0010788HP:0010788Testicular neoplasm0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiency13
HP:0010788HP:0010788Testicular neoplasm0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesis48
HP:0010788HP:0010788Testicular neoplasm0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesis38
HP:0010788HP:0010788Testicular neoplasm0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0010788HP:0010788Testicular neoplasm0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0010788HP:0010788Testicular neoplasm0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0010788HP:0010788Testicular neoplasm0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0010788HP:0010788Testicular neoplasm0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0010788HP:0010788Testicular neoplasm0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0010788HP:0010788Testicular neoplasm0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0010788HP:0010788Testicular neoplasm0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesis109
HP:0010788HP:0010788Testicular neoplasm0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesis23
HP:0010788HP:0010788Testicular neoplasm0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiency45
HP:0010788HP:0010788Testicular neoplasm0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0010788HP:0010788Testicular neoplasm0STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0010788HP:0010788Testicular neoplasm0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0010788HP:0010788Testicular neoplasm0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911
HP:0010788HP:0010788Testicular neoplasm0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiency85
HP:0010788HP:0010788Testicular neoplasm0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0010788HP:0010788Testicular neoplasm0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesis177
HP:0010788HP:0010788Testicular neoplasm0WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumorHP:0040283 - Occasional177
HP:0010788HP:0010788Testicular neoplasm0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesis149
HP:0010788HP:0010788Testicular neoplasm0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesis31
HP:0010788HP:0100616Testicular teratoma1 CL E G H
HP:0010788HP:0100005Testicular mesothelioma1 CL E G H
HP:0010788HP:0034380Juvenile type testicular granulosa cell tumor1 CL E G H
HP:0010788HP:0025451Testicular adrenal rest tumor1CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyHP:0040283 - Occasional112
HP:0010788HP:0000030Testicular gonadoblastoma1DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional2
HP:0010788HP:0100619Sertoli cell neoplasm1DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent670
HP:0010788HP:0100617Testicular seminoma1DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent670
HP:0010788HP:0000030Testicular gonadoblastoma1DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional1
HP:0010788HP:0000030Testicular gonadoblastoma1GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional87
HP:0010788HP:0100617Testicular seminoma1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0010788HP:0100617Testicular seminoma1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0010788HP:0100617Testicular seminoma1KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent
HP:0010788HP:0100619Sertoli cell neoplasm1KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent
HP:0010788HP:0000030Testicular gonadoblastoma1MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional13
HP:0010788HP:0100618Leydig cell neoplasia1MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare94
HP:0010788HP:0025451Testicular adrenal rest tumor1MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional94
HP:0010788HP:0100618Leydig cell neoplasia1MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare26
HP:0010788HP:0025451Testicular adrenal rest tumor1MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional26
HP:0010788HP:0025451Testicular adrenal rest tumor1NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional13
HP:0010788HP:0100618Leydig cell neoplasia1NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare13
HP:0010788HP:0000030Testicular gonadoblastoma1NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional48
HP:0010788HP:0000030Testicular gonadoblastoma1NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional38
HP:0010788HP:0025451Testicular adrenal rest tumor1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0010788HP:0100618Leydig cell neoplasia1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0010788HP:0100619Sertoli cell neoplasm1PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040284 - Very rare13
HP:0010788HP:0025451Testicular adrenal rest tumor1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0010788HP:0100618Leydig cell neoplasia1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0010788HP:0100619Sertoli cell neoplasm1PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040284 - Very rare134
HP:0010788HP:0000030Testicular gonadoblastoma1SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional109
HP:0010788HP:0000030Testicular gonadoblastoma1SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional23
HP:0010788HP:0025451Testicular adrenal rest tumor1STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional45
HP:0010788HP:0100618Leydig cell neoplasia1STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare45
HP:0010788HP:0100619Sertoli cell neoplasm1STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0010788HP:0100617Testicular seminoma1STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040283 - Occasional19
HP:0010788HP:0025451Testicular adrenal rest tumor1TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional85
HP:0010788HP:0100618Leydig cell neoplasia1TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare85
HP:0010788HP:0000030Testicular gonadoblastoma1VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional2
HP:0010788HP:0000030Testicular gonadoblastoma1WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional177
HP:0010788HP:0000030Testicular gonadoblastoma1WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional149
HP:0010788HP:0000030Testicular gonadoblastoma1ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional31
HP:0010788HP:0008204Precocious puberty with Sertoli cell tumor2STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740


Genes (39) :AKT1 AR CDC73 CDKN1B CDKN2A CHEK2 CYP11B1 DHX37 DICER1 DMRT3 EWSR1 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 (19) :ORPHA:744 ORPHA:99429 ORPHA:99880 ORPHA:143 ORPHA:276152 ORPHA:524 ORPHA:90795 ORPHA:251510 ORPHA:276399 ORPHA:83469 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.