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Muir-Torre syndrome
1 OMIM reference -
3 associated genes
114 connected diseases
14 signs/symptoms
Disease Type of connection
Hereditary nonpolyposis colon cancer
Constitutional mismatch repair deficiency syndrome
Non-polyposis Turcot syndrome
Hereditary breast and ovarian cancer syndrome
Familial prostate cancer
Fanconi anemia
Familial pancreatic carcinoma
B-cell chronic lymphocytic leukemia
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Cornelia de Lange syndrome
Bloom syndrome
Seckel syndrome
Li-Fraumeni syndrome
Giant cell glioblastoma
Gliosarcoma
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Ataxia-telangiectasia-like disorder
Combined cervical dystonia
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Mantle cell lymphoma
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
Estrogen resistance syndrome
Familial gastric cancer
MUTYH-related attenuated familial adenomatous polyposis
Adrenocortical carcinoma
Essential thrombocythemia
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Severe combined immunodeficiency due to DNA-PKcs deficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Amyotrophic lateral sclerosis
Autoimmune polyendocrinopathy type 1
Familial congenital mirror movements
Isolated adermatoglyphia
Aicardi-Goutières syndrome
Chilblain lupus
Osteosarcoma
Hereditary pheochromocytoma-paraganglioma
Severe X-linked mitochondrial encephalomyopathy
X-linked Charcot-Marie-Tooth disease type 4
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Baraitser-Winter syndrome
Desminopathy
Familial isolated dilated cardiomyopathy
Scapuloperoneal amyotrophy
Xeroderma pigmentosum variant
Late-onset autosomal recessive medullary cystic kidney disease
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Isolated ATP synthase deficiency
Spinocerebellar ataxia type 12
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Ear-patella-short stature syndrome
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Acute neonatal citrullinemia type I
Adenine phosphoribosyltransferase deficiency
Adult-onset citrullinemia type I
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant hyper-IgE syndrome
Autosomal dominant neovascular inflammatory vitreoretinopathy
Boomerang dysplasia
COFS syndrome
Charcot-Marie-Tooth disease type 4D
Chronic granulomatous disease
Cockayne syndrome type 1
Cockayne syndrome type 2
Craniolenticulosutural dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial visceral myopathy
Glycogen storage disease due to aldolase A deficiency
Infantile cerebellar-retinal degeneration
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Lethal acantholytic epidermolysis bullosa
Multiple endocrine neoplasia type 1
Muscle filaminopathy
Naxos disease
Osteogenesis imperfecta type 3
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pseudohypoaldosteronism type 2E
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Spinocerebellar ataxia type 26
Spondylocarpotarsal synostosis
Translocation renal cell carcinoma
Xeroderma pigmentosum complementation group F
Young adult-onset Parkinsonism
Cerebroretinal vasculopathy
HERNS syndrome
Hereditary vascular retinopathy
Xeroderma pigmentosum complementation group A
Blackfan-Diamond anemia
Extraskeletal Ewing sarcoma
Neuralgic amyotrophy
Synonym(s):
- Multiple keratoacanthoma, Muir-Torre type
Classification (Orphanet):
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D055653
Gene symbol UniProt reference OMIM reference
MLH1 P40692120436
MSH2 P43246609309
MSH6 P52701600678
Very frequent
- Adenoma sebaceum
- Autosomal dominant inheritance
- Skin tumors / lumps / epidermal cysts

Frequent
- Colon neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer

Occasional
- Breast neoplasm / tumor / carcinoma / cancer
- Hematologic / blood / lymphatic cancer
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Laryngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Salivary gland neoplasm / tumor / carcinoma / cancer
- Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer