Muir-Torre syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS
MRTES
Multiple keratoacanthoma, Muir-Torre type
Number of Symptoms 29
OrphanetNr: 587
OMIM Id: 158320
ICD-10: C44
D23
UMLs: C1321489
MeSH: D055653
MedDRA: 10063042
Snomed: 403824007

Prevalence, inheritance and age of onset:

Prevalence: > 205 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Benign tumor of palpebral epidermis
 -Rare eye disease
 -Rare genetic disease
Genetic skin tumor
 -Rare genetic disease
Hereditary nonpolyposis colon cancer
 -Rare gastroenterologic disease
 -Rare genetic disease
 -Rare oncologic disease
Inherited cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease
Palpebral sebaceus gland tumor
 -Rare eye disease
 -Rare genetic disease
Rare skin tumor or hamartoma
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0006778) Benign genitourinary tract neoplasm 1 / 7739
2
(HPO:0006758) Malignant genitourinary tract tumor 1 / 7739
3
(HPO:0100615) Ovarian neoplasm Occasional [Orphanet] 25 / 7739
4
(HPO:0009726) Renal neoplasm Occasional [Orphanet] 20 / 7739
5
(HPO:0010786) Urinary tract neoplasm Occasional [Orphanet] 7 / 7739
6
(HPO:0010784) Uterine neoplasm Occasional [Orphanet] 13 / 7739
7
(HPO:0100684) Salivary gland neoplasm Occasional [Orphanet] 4 / 7739
8
(HPO:0009720) Adenoma sebaceum Very frequent [Orphanet] 12 / 7739
9
(HPO:0100013) Neoplasm of the breast Occasional [Orphanet] 18 / 7739
10
(HPO:0003002) Breast carcinoma 23 / 7739
11
(HPO:0002253) Colonic diverticula 12 / 7739
12
(HPO:0006749) Malignant gastrointestinal tract tumors 1 / 7739
13
(HPO:0002896) Neoplasm of the liver Occasional [Orphanet] 17 / 7739
14
(HPO:0006753) Neoplasm of the stomach Frequent [Orphanet] 13 / 7739
15
(HPO:0006771) Duodenal adenocarcinoma 3 / 7739
16
(HPO:0006719) Benign gastrointestinal tract tumors 1 / 7739
17
(HPO:0003003) Colon cancer 20 / 7739
18
(HPO:0100273) Neoplasm of the colon Frequent [Orphanet] 18 / 7739
19
(HPO:0002671) Basal cell carcinoma 18 / 7739
20
(HPO:0008069) Neoplasm of the skin Very frequent [Orphanet] 84 / 7739
21
(HPO:0004377) Hematological neoplasm Occasional [Orphanet] 12 / 7739
22
(HPO:0012118) Laryngeal carcinoma Occasional [Orphanet] 1 / 7739
23
(OMIM) Sebaceous epitheliomas 1 / 7739
24
(MedDRA:10068784) Sebaceous carcinoma 1 / 7739
25
(OMIM) Sebaceous gland tumors 1 / 7739
26
(HPO:0030410) Sebaceous gland carcinoma 1 / 7739
27
(MedDRA:10062919) Sebaceous adenoma 1 / 7739
28
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
29
(MedDRA:10023347) Keratoacanthoma 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM Ponti et al. (2005) concluded that the clinical, biomolecular, and immunohistochemical characteristics of sebaceous skin lesions and keratoacanthomas can be used in screening for families at risk of Muir-Torre syndrome. Through pathology records, they collected 120 patients with ...
Clinical Description OMIM Muir-Torre syndrome represents the association of sebaceous skin tumors with internal malignancy. The Gardner and Peutz-Jeghers syndromes are examples of skin-polyposis syndromes. Polyps of the stomach have been reported with the basal cell nevus syndrome (109400). Muir et ...
Molecular genetics OMIM Kruse et al. (1996) identified germline mutations in the MSH2 DNA mismatch repair gene in 2 unrelated Muir-Torre syndrome patients ascertained because of their skin tumors. They suggested that the results, together with published cases of Muir-Torre syndrome, ...