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Muir-Torre syndrome

1 OMIM reference -
3 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Lethal acantholytic epidermolysis bullosa

1 OMIM reference -
2 associated genes
10 signs/symptoms

Muir-Torre syndrome

Lethal acantholytic epidermolysis bullosa

MLH1	(UniProt - OMIM)		DSP	(UniProt - OMIM)
MSH2	(UniProt - OMIM)		JUP	(UniProt - OMIM)
MSH6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MSH2	(0.63)	JUP

Citations in the biomedical literature:

Muir-Torre syndrome		Lethal acantholytic epidermolysis bullosa
	Synonym(s): - Multiple keratoacanthoma, Muir-Torre type		Synonym(s): - LAEB

	Classification (Orphanet): - Rare eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D055653		External references: 1 OMIM reference - 1 MeSH reference: C535493

Muir-Torre syndrome		Lethal acantholytic epidermolysis bullosa
	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		Very frequent - Absent / small fingernails / anonychia of hands - Alopecia - Autosomal recessive inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Premature eruption of teeth / natal teeth - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Cardiomyopathy / hypertrophic / dilated - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis