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Muir-Torre syndrome

1 OMIM reference -
3 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Adenine phosphoribosyltransferase deficiency

1 OMIM reference -
1 associated gene
7 signs/symptoms

Muir-Torre syndrome

Adenine phosphoribosyltransferase deficiency

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MLH1	(0.63)	APRT

Citations in the biomedical literature:

Muir-Torre syndrome		Adenine phosphoribosyltransferase deficiency
	Synonym(s): - Multiple keratoacanthoma, Muir-Torre type		Synonym(s): - 2,8-dihydroxyadenine urolithiasis - APRT deficiency

	Classification (Orphanet): - Rare eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D055653		External references: 1 OMIM reference - No MeSH references

Muir-Torre syndrome		Adenine phosphoribosyltransferase deficiency
	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 - Autosomal recessive inheritance - Urinary / renal lithiasis / kidney stones / nephritic colic Frequent - Hematuria / microhematuria - Renal disease / nephropathy Occasional - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Recurrent urinary infections - Renal failure