ODCs

Click node...

Muir-Torre syndrome

1 OMIM reference -
3 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Autosomal dominant Larsen syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

Muir-Torre syndrome

Autosomal dominant Larsen syndrome

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


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

Citations in the biomedical literature:

Muir-Torre syndrome		Autosomal dominant Larsen syndrome
	Synonym(s): - Multiple keratoacanthoma, Muir-Torre type		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance

Muir-Torre syndrome		Autosomal dominant Larsen syndrome
	Very frequent - Adenoma sebaceum - 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 - Autosomal recessive inheritance - Broad / bifid thumb - Depressed nasal bridge - Depressed premaxillary region / midface - Flat face - Frontal bossing / prominent forehead - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Joint dislocation / subluxation - Long hand / arachnodactyly - Short hand / brachydactyly Frequent - Wrist / carpal anomalies Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Craniostenosis / craniosynostosis / sutural synostosis - Epiphyseal anomaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Short stature / dwarfism / nanism - Structural anomalies of the cardio-circulatory system - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes - Vertebral segmentation anomaly / hemivertebrae