Details of Disease

General Information of Disease (ID: DISYBXFF)

• Disease Name: Hereditary Wilms tumor
• Synonyms: WT1; hereditary renal adenosarcoma; hereditary nephroblastoma; hereditary kidney adenosarcoma; hereditary Wilms' tumour; hereditary Wilms' tumor; hereditary Wilms tumor; familial Wilms' tumour; familial Wilms' tumor; familial Wilms tumour; familial Wilms tumor
• Definition: Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)
• Disease Hierarchy:
  DISB6T16: Wilms tumor
  DIS7WJYB: Kidney Wilms tumor
  DISNCQLA: Inherited kidney disorder
  DISYBXFF: Hereditary Wilms tumor
• Disease Identifiers:
  MONDO ID: MONDO_0003321
  UMLS CUI: C0677779
  MedGen ID: 146190

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CTR9	OTP151PZ	Limited	Biomarker	[1]
PPP2R1A	OTYA3GB4	Limited	Biomarker	[2]
PHOX2B	OT3SFR2O	Strong	Biomarker	[3]

References

• [1] Identification of a novel CTR9 germline mutation in a family with Wilms tumor.Eur J Med Genet. 2018 May;61(5):294-299. doi: 10.1016/j.ejmg.2017.12.010. Epub 2017 Dec 29.
• [2] Absence of PPP2R1A mutations in Wilms tumor.Oncogene. 2001 Apr 12;20(16):2050-4. doi: 10.1038/sj.onc.1204301.
• [3] A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma.Fam Cancer. 2010 Sep;9(3):425-30. doi: 10.1007/s10689-009-9319-8.