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Autosomal dominant Larsen syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1

Well-differentiated liposarcoma

3 associated genes
4 signs/symptoms

Autosomal dominant Larsen syndrome

Well-differentiated liposarcoma

FLNB	(UniProt - OMIM)		CDK4	(UniProt - OMIM)
			HMGA2	(UniProt - OMIM)
			MDM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	MDM2

Citations in the biomedical literature:

Autosomal dominant Larsen syndrome		Well-differentiated liposarcoma
	Synonym(s): (no synonyms)		Synonym(s): - ALT - Atypical lipoma - Atypical lipomatous tumor - WDLS

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare oncologic disease

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

	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		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

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

Autosomal dominant Larsen syndrome		Well-differentiated liposarcoma
	Very frequent - Absent / small fingernails / anonychia of hands - Autosomal dominant inheritance - 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		Very frequent - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - Functional anomalies of the kidney and the urinary tract - Intestinal transit disorder