Muir-torre Syndrome

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Muir-torre Syndrome

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Nevus
  • Lymphoma
  • Vasculitis
  • Hyperlipidemia
  • Neoplasm of the skin
  • Breast carcinoma
  • Basal cell carcinoma

And another 21 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Muir-torre Syndrome Is also known as cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and other carcinomas, multiple keratoacanthoma, muir-torre type.

Researches and researchers

Doctors, researchs, and experts related to Muir-torre Syndrome extracted from public data.

Muir-torre Syndrome Experts map



Current Researchs and researchers

  • HALLE (SAALE) — Pr Wolfgang G. BALLHAUSEN

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Medizinische Fakultät der Martin-Luther-Universität Halle-Wittenberg
    • Research area/topic::

      The function of fragile histidine triad gene (FHIT) gene in Muir-Torre syndrome and other tumors



Mendelian

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Muir-torre Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HNPCC MSI & IHC Screening.

By Baylor Miraca Genetics Laboratories (United States).

EPCAM, MLH1, MSH2, MSH6, PMS2
Specificity
60 %
Genes
100 %
MSH6 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MSH6
Specificity
100 %
Genes
34 %
MSH6 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MSH6
Specificity
100 %
Genes
34 %
MSH6 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MSH6
Specificity
100 %
Genes
34 %
MSH6 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

MSH6
Specificity
100 %
Genes
34 %
Mismatch Repair Proteins Immunohistochemistry.

By Baylor Miraca Genetics Laboratories (United States).

MLH1, MSH2, MSH6, PMS2
Specificity
75 %
Genes
100 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
18 %
Genes
100 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
18 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Search Engine

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