Muir-torre syndrome

Preferred Label : Muir-torre syndrome;

Symbol : MRTES;

CISMeF acronym : MRTES;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and other carcinomas;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mutS homolog 2 gene (MSH2, 120435.0006); Caused by mutation in the DNA mismatch repair protein MLH1 gene (MLH1, 120436.0006);

Neoplasia : Sebaceous carcinoma; Sebaceous epitheliomas; Sebaceous adenomas; Basal cell carcinoma; Colon cancer; Duodenal carcinoma; Laryngeal carcinoma; Benign gastrointestinal tract tumors; Benign genitourinary tract tumors; Malignant gastrointestinal tract tumors; Malignant genitourinary tract tumors; Breast cancer;

Prefixed ID : #158320;

Details

Origin ID

158320;

UMLS CUI

C1321489;

Currated CISMeF NLP mapping
- Muir Torre syndrome [Disease (Nov.)]
- Muir-Torre Syndrome [NCIt concept]
- Muir-Torre syndrome [PASCAL descriptor]
- Muir-Torre syndrome [DO Concept]
- Muir-Torre syndrome [ICD-11 More detail]
- Muir-Torre syndrome [MedDRA Preferred Term]
- Muir-Torre syndrome [MeSH Descriptor]
- Muir-Torre syndrome [MeSH concept]
- Muir-Torre syndrome [ORDO Disease]
- Torré-Muir syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Muir-Torre syndrome [DO Concept]
Genes related to phenotype
- Dna mismatch repair protein mlh1 [OMIM gene]
- Muts homolog 2 [OMIM gene]
HPO term(s)
- Adenoma sebaceum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basal cell carcinoma [HPO term]
- Benign gastrointestinal tract tumors [HPO term]
- Benign genitourinary tract neoplasm [HPO term]
- Breast carcinoma [HPO term]
- Carcinoma [HPO term]
- Colon cancer [HPO term]
- Colonic diverticula [HPO term]
- Duodenal adenocarcinoma [HPO term]
- Laryngeal carcinoma [HPO term]
- Malignant genitourinary tract tumor [HPO term]
- Sebaceous gland carcinoma [HPO term]
ORDO concept(s)
- Muir-Torre syndrome [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Muir Torre syndrome [Disease (Nov.)]
- Muir-Torre Syndrome [NCIt concept]
- Muir-Torre syndrome [MedDRA Preferred Term]
- Muir-Torre syndrome [ORDO Disease]
- Muir-Torre syndrome [MeSH Descriptor]
- Muir-Torre syndrome [MeSH concept]
- Muir-Torre syndrome [DO Concept]
- Muir-Torre syndrome [PASCAL descriptor]
- Muir-Torre syndrome [ICD-11 More detail]
- Torré-Muir syndrome (disorder) [SNOMED CT concept]

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