Details of Disease

General Information of Disease (ID: DISP7DUI)

• Disease Name: Hereditary papillary renal cell carcinoma
• Synonyms: renal cell carcinoma, papillary, 1, familial and somatic; renal cell carcinoma, papillary; hereditary papillary renal cell carcinoma; hereditary papillary renal cell cancer; hereditary papillary renal carcinoma; hereditary papillary carcinoma of the kidney; hereditary papillary carcinoma of kidney; hereditary kidney papillary carcinoma; familial renal papillary carcinoma
• Definition: A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene.
• Disease Hierarchy:
  DISTN8X8: Hereditary renal cell carcinoma
  DIS25HBV: Papillary renal cell carcinoma
  DISP7DUI: Hereditary papillary renal cell carcinoma
• Disease Identifiers:
  MONDO ID: MONDO_0003789
  UMLS CUI: C0879257
  MedGen ID: 163907
  Orphanet ID: 47044
  SNOMED CT ID: 715561008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MET	TTNDSF4	moderate	Genetic Variation	[1]
MET	TTNDSF4	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MET	OT7K55MU	Definitive	Autosomal dominant	[2]

References

• [1] Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma.Fam Cancer. 2012 Sep;11(3):535-7. doi: 10.1007/s10689-012-9542-6.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.