ODCs

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1 OMIM reference -
2 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Spondylocarpotarsal synostosis

1 OMIM reference -
1 associated gene
12 signs/symptoms

Desmoid tumor

Spondylocarpotarsal synostosis

APC	(UniProt - OMIM)		FLNB	(UniProt - OMIM)
CTNNB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTNNB1	(0.63)	FLNB

Citations in the biomedical literature:

Desmoid tumor		Spondylocarpotarsal synostosis
	Synonym(s): - Aggressive fibromatosis - Desmoid type fibromatosis		Synonym(s): - Synspondylism

	Classification (Orphanet): - Rare oncologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Restricted joint mobility / joint stiffness / ankylosis

Desmoid tumor		Spondylocarpotarsal synostosis
	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 - Retinitis pigmentosa / retinal pigmentary changes - Sepsis severe / septicemia - Skin tumors / lumps / epidermal cysts - Thoracic / chest pain		Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Carpal bones fusion / synostosis - Lordosis - Short rib cage / thorax - Vertebral segmentation anomaly / hemivertebrae Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Pectus excavatum - Polycystic kidneys - Sensorineural deafness / hearing loss