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Atelosteogenesis type I

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Muir-Torre syndrome

1 OMIM reference -
3 associated genes
14 signs/symptoms

Atelosteogenesis type I

Muir-Torre syndrome

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


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

Citations in the biomedical literature:

Atelosteogenesis type I		Muir-Torre syndrome
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - Multiple keratoacanthoma, Muir-Torre type

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant		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: C535396		External references: 1 OMIM reference - 1 MeSH reference: D055653

Muir-Torre syndrome
	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
Atelosteogenesis type I
(no data available)