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Otopalatodigital syndrome type 1

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
2 associated genes
21 signs/symptoms

Otopalatodigital syndrome type 1

Desmoid tumor

FLNA	(UniProt - OMIM)		APC	(UniProt - OMIM)
			CTNNB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.63)	APC

Citations in the biomedical literature:

Otopalatodigital syndrome type 1		Desmoid tumor
	Synonym(s): (no synonyms)		Synonym(s): - Aggressive fibromatosis - Desmoid type fibromatosis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic 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: - Average age onset: - Average age of death: - Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: sporadic

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


COMMON SIGNS	- Restricted joint mobility / joint stiffness / ankylosis

Otopalatodigital syndrome type 1		Desmoid tumor
	Very frequent - Anodontia / oligodontia / hypodontia - Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hearing loss / hypoacusia / deafness - Hypertelorism - Prominent supraorbital ridge - Short big toe - Wide space between 1st-2nd toes - X-linked recessive inheritance Frequent - Bowed diaphysis / diaphyses / long bones - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Elbow dislocation - Frontal sinus agenesis / anomaly - Metacarpal anomalies / Archibald's sign - Osteosclerosis / osteopetrosis / bone condensation - Proximally set thumb - Short hand / brachydactyly - Terminal / third phalangeal bone of fingers hypoplasia - Thumb hypoplasia / aplasia / absence Occasional - Anomalies of spine, vertebrae and pelvis - Carpal bones fusion / synostosis - Tarsal anomaly / fusion / 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