Details of Disease

General Information of Disease (ID: DISKFFSW)

• Disease Name: Muir-Torre syndrome
• Synonyms: cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas; cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas; MUIR-Torre syndrome; MRTES; Muir-Torre syndrome; multiple keratoacanthoma, Muir-Torre type
• Definition: Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.
• Disease Hierarchy:
  DISPA49R: Hereditary nonpolyposis colon cancer
  DIS3HIWD: Autosomal dominant disease
  DISKFFSW: Muir-Torre syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008018
  UMLS CUI: C1321489
  OMIM ID: 158320
  MedGen ID: 231157
  Orphanet ID: 587
  SNOMED CT ID: 403824007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MRC1	TTKV8W5	Limited	Genetic Variation	[1]
MUTYH	TTNB0ZK	Limited	Genetic Variation	[2]
FHIT	TTMS54D	Strong	Biomarker	[3]
MLH1	TTISG27	Definitive	Autosomal dominant	[4]
MSH2	TTCAWRT	Definitive	Autosomal dominant	[5]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH1	OT8YBDOT	Limited	Genetic Variation	[6]
MSH6	OT46FP09	Moderate	Autosomal dominant	[7]
PMS2	OTNLWTMI	Moderate	Autosomal recessive	[7]
MLH1	OTG5XDD8	Definitive	Autosomal dominant	[4]
MSH2	OT10H1AB	Definitive	Autosomal dominant	[5]

References

• [1] Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome.Mol Genet Genomic Med. 2019 Jul;7(7):e00781. doi: 10.1002/mgg3.781. Epub 2019 Jun 4.
• [2] Biallelic MYH germline mutations as cause of Muir-Torre syndrome.Fam Cancer. 2010 Jun;9(2):151-4. doi: 10.1007/s10689-009-9309-x.
• [3] Influence of FHIT on benzo[a]pyrene-induced tumors and alopecia in mice: chemoprevention by budesonide and N-acetylcysteine.Proc Natl Acad Sci U S A. 2006 May 16;103(20):7823-8. doi: 10.1073/pnas.0601412103. Epub 2006 May 3.
• [4] Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred. Clin Genet. 2003 Sep;64(3):220-7. doi: 10.1034/j.1399-0004.2003.t01-1-00110.x.
• [5] A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening. J Med Genet. 1999 Oct;36(10):790-3. doi: 10.1136/jmg.36.10.792.
• [6] An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation.Fam Cancer. 2007;6(3):317-21. doi: 10.1007/s10689-007-9119-y. Epub 2007 Feb 24.
• [7] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.