Details of Disease

General Information of Disease (ID: DISK4XHT)

• Disease Name: Neoplasm of testis
• Synonyms: testis tumor; tumour of testis; testicular tumour; testis tumour; tumor of the testis; tumour of the testis; testis neoplasm; neoplasm of the testis; testicular neoplasm; neoplasm of testis; testis neoplasm (disease); tumor of testis; testicular tumor
• Definition: A neoplasm (disease) that involves the testis.
• Disease Hierarchy:
  DISTBY9Z: Tumour
  DISJZN92: Male reproductive system neoplasm
  :
  DISK4XHT: Neoplasm of testis
• Disease Identifiers:
  MONDO ID: MONDO_0021348
  MESH ID: D013736
  UMLS CUI: C0039590
  MedGen ID: 52675
  HPO ID: HP:0010788
  SNOMED CT ID: 126900000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 13 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BAP1	TT47RXJ	moderate	Biomarker	[1]
BAK1	TTFM7V0	Strong	Genetic Variation	[2]
CENPE	TTZD5QR	Strong	Genetic Variation	[3]
CGB3	TTUH273	Strong	Biomarker	[4]
HPGDS	TTCYE56	Strong	Genetic Variation	[5]
KITLG	TTDJ51N	Strong	Genetic Variation	[3]
KLK14	TTDA81R	Strong	Altered Expression	[6]
LCT	TTA0OSE	Strong	Biomarker	[7]
MAD1L1	TTNE9U7	Strong	Genetic Variation	[5]
MAPK8IP1	TTXKZ8Q	Strong	Altered Expression	[8]
MLANA	TT362RB	Strong	Biomarker	[9]
PDE11A	TTTWC79	Strong	Biomarker	[10]
TDGF1	TTN7HMG	Strong	Biomarker	[11]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UCK2	DETN1O0	Strong	Genetic Variation	[3]

This Disease Is Related to 24 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SERINC1	OTF3UASX	Limited	Biomarker	[12]
SERINC2	OTZ039U0	Limited	Biomarker	[12]
SERINC3	OTQ1LAJ1	Limited	Altered Expression	[12]
STK11	OT1YZSP3	Limited	Posttranslational Modification	[13]
ASCC3	OTF6DCYB	Strong	Biomarker	[14]
ATF7IP	OTU6ZA7F	Strong	Genetic Variation	[3]
CCDC54	OTW5WCX9	Strong	Biomarker	[15]
DDX1	OT3U8FD0	Strong	Biomarker	[14]
DDX56	OTGURA53	Strong	Biomarker	[14]
DMRT1	OT5PU9U1	Strong	Genetic Variation	[3]
ENTPD5	OTFH05B9	Strong	Biomarker	[16]
ERCC1	OTNPYQHI	Strong	Biomarker	[17]
ERCC4	OTFIOPG1	Strong	Biomarker	[17]
FXYD5	OT81DIOD	Strong	Altered Expression	[18]
GTF2H2	OTK72L9I	Strong	Altered Expression	[19]
IFI44	OTOKSZVA	Strong	Altered Expression	[19]
INHA	OT7HWCO3	Strong	Biomarker	[20]
KLK13	OT8LOD2U	Strong	Altered Expression	[21]
MCM3AP	OT895FEC	Strong	Genetic Variation	[3]
PATZ1	OT0X9WGR	Strong	Biomarker	[22]
PITX1	OTA0UN4C	Strong	Genetic Variation	[3]
PRDM14	OTWZKY4L	Strong	Genetic Variation	[3]
RFWD3	OTDUULBQ	Strong	Genetic Variation	[5]
SLC25A44	OTHHPC3C	Strong	Genetic Variation	[3]

References

• [1] Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area.Genes Chromosomes Cancer. 2015 Jan;54(1):51-62. doi: 10.1002/gcc.22218. Epub 2014 Sep 18.
• [2] Variants in BAK1, SPRY4, and GAB2 are associated with pediatric germ cell tumors: A report from the children's oncology group.Genes Chromosomes Cancer. 2017 Jul;56(7):548-558. doi: 10.1002/gcc.22457. Epub 2017 Apr 4.
• [3] Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.Nat Genet. 2013 Jun;45(6):686-9. doi: 10.1038/ng.2635. Epub 2013 May 12.
• [4] Low-grade Endometrioid Stromal Sarcoma of the Paratestis: A Novel Report With Molecular Confirmation of JAZF1/SUZ12 Translocation.Am J Surg Pathol. 2018 May;42(5):695-700. doi: 10.1097/PAS.0000000000001030.
• [5] Meta-analysis identifies four new loci associated with testicular germ cell tumor.Nat Genet. 2013 Jun;45(6):680-5. doi: 10.1038/ng.2634. Epub 2013 May 12.
• [6] Quantitative analysis of human kallikrein gene 14 expression in breast tumours indicates association with poor prognosis.Br J Cancer. 2002 Nov 18;87(11):1287-93. doi: 10.1038/sj.bjc.6600623.
• [7] Characteristics of Patients With Sertoli and Leydig Cell Testis Neoplasms From a National Population-Based Registry.Clin Genitourin Cancer. 2017 Apr;15(2):e263-e266. doi: 10.1016/j.clgc.2016.08.001. Epub 2016 Aug 12.
• [8] The JNK interacting protein JIP-1 and insulin like growth factor II genes are co-expressed in human embryonic tumours.Anticancer Res. 2005 Mar-Apr;25(2A):1075-8.
• [9] Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year.Forensic Sci Int. 2011 Mar 20;206(1-3):e71-5. doi: 10.1016/j.forsciint.2010.09.017. Epub 2010 Oct 15.
• [10] Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.J Clin Endocrinol Metab. 2011 Jan;96(1):E208-14. doi: 10.1210/jc.2010-1704. Epub 2010 Nov 3.
• [11] Expression of teratocarcinoma-derived growth factor-1 (TDGF-1) in testis germ cell tumors and its effects on growth and differentiation of embryonal carcinoma cell line NTERA2/D1.Oncogene. 1997 Aug 18;15(8):927-36. doi: 10.1038/sj.onc.1201260.
• [12] Identification of TDE2 gene and its expression in non-small cell lung cancer.Int J Cancer. 2003 Nov 1;107(2):238-43. doi: 10.1002/ijc.11391.
• [13] Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome.Oncogene. 2000 Jan 6;19(1):164-8. doi: 10.1038/sj.onc.1203227.
• [14] DEAD box protein DDX1 promotes colorectal tumorigenesis through transcriptional activation of the LGR5 gene.Cancer Sci. 2018 Aug;109(8):2479-2489. doi: 10.1111/cas.13661. Epub 2018 Jul 17.
• [15] Cancer immunotherapy targeting Sp17: when should the laboratory findings be translated to the clinics?.Am J Hematol. 2005 Sep;80(1):6-11. doi: 10.1002/ajh.20415.
• [16] PCPH expression is an early event in the development of testicular germ cell tumors.Int J Oncol. 2006 Mar;28(3):595-604.
• [17] ERCC1 and XPF expression in human testicular germ cell tumors.Oncol Rep. 2010 Jan;23(1):223-7.
• [18] Involvement of dysadherin and E-cadherin in the development of testicular tumours.Br J Cancer. 2005 Dec 12;93(12):1382-7. doi: 10.1038/sj.bjc.6602880.
• [19] The expression and function of androgen receptor coactivator p44 and protein arginine methyltransferase 5 in the developing testis and testicular tumors.J Urol. 2007 May;177(5):1918-22. doi: 10.1016/j.juro.2007.01.017.
• [20] Inhibin-, E-cadherin, calretinin and Ki-67 antigen in the immunohistochemical evaluation of canine and human testicular neoplasms.Folia Histochem Cytobiol. 2014;52(4):326-34. doi: 10.5603/FHC.a2014.0036. Epub 2014 Dec 16.
• [21] Identification and molecular characterization of five novel kallikrein gene 13 (KLK13; KLK-L4) splice variants: differential expression in the human testis and testicular cancer.Anticancer Res. 2001 Sep-Oct;21(5):3147-52.
• [22] PATZ1 gene has a critical role in the spermatogenesis and testicular tumours.J Pathol. 2008 May;215(1):39-47. doi: 10.1002/path.2323.