ODCs

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1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Muir-Torre syndrome

1 OMIM reference -
3 associated genes
14 signs/symptoms

Naxos disease

Muir-Torre syndrome

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


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

Citations in the biomedical literature:

Naxos disease		Muir-Torre syndrome
	Synonym(s): - Keratosis palmoplantaris with arrythmogenic cardiomyopathy - Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy - Palmoplantar keratoderma with arrythmogenic cardiomyopathy		Synonym(s): - Multiple keratoacanthoma, Muir-Torre type

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive		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: C538346		External references: 1 OMIM reference - 1 MeSH reference: D055653

Naxos disease		Muir-Torre syndrome
	Very frequent - Abnormal hair texture / hair dysplasia - Autosomal recessive inheritance - Cardiac rhythm disorder / arrhythmia - Cardiomyopathy / hypertrophic / dilated - Dizziness - Palmoplantar hyperkeratosis / keratoderma - Woolly / frizzy hair Frequent - Brittle hair / distrix / trichorrhexis - Cleft lip - Heart / cardiac failure - Hyperhidrosis / increased sweating - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest		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