ODCs

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1 OMIM reference -
2 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
25 signs/symptoms

Desmoid tumor

Monosomy 5p

APC	(UniProt - OMIM)		CTNND2	(UniProt - OMIM)
CTNNB1	(UniProt - OMIM)		SEMA5A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTNNB1	(0.59)	CTNND2

Citations in the biomedical literature:

Desmoid tumor		Monosomy 5p
	Synonym(s): - Aggressive fibromatosis - Desmoid type fibromatosis		Synonym(s): - Cri du chat syndrome - Deletion 5p

	Classification (Orphanet): - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: sporadic		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C538482 / D003410

Desmoid tumor		Monosomy 5p
	Very frequent - Anomalies of the abdominal wall - Fibromatosis / bone fibroma - Muscle anomalies - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Acute abdominal pain / colic - Myalgia / muscular pain - Polyposis of the bowel / colon / intestine Occasional - Articular / joint pain / arthralgia - Bladder and ureter anomalies - Early death / lethality - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Intestinal obstruction / ileus - Malabsorption / chronic diarrhea / steatorrhea - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Osteolysis / osteoclasia / bone destruction / erosions - Restricted joint mobility / joint stiffness / ankylosis - Retinitis pigmentosa / retinal pigmentary changes - Sepsis severe / septicemia - Skin tumors / lumps / epidermal cysts - Thoracic / chest pain		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Broad nasal root - Epicanthic folds - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Round face - Total / partial trisomy / duplication Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - High vaulted / narrow palate - Hypertelorism - Intrauterine growth retardation - Scoliosis - Short neck - Short stature / dwarfism / nanism - Small hand / acromicria Occasional - Abnormal / absent ossification - Congenital cardiac anomaly / malformation / cardiopathy - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Mutiple fractures / bone fragility - Preauricular / branchial tags / appendages - Syndactyly of fingers / interdigital palm