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Otopalatodigital syndrome type 1

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1

Bernard-Soulier syndrome

2 OMIM references -
3 associated genes
No signs/symptoms info

Otopalatodigital syndrome type 1

Bernard-Soulier syndrome

FLNA	(UniProt - OMIM)		GP1BA	(UniProt - OMIM)
			GP1BB	(UniProt - OMIM)
			GP9	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.73)	GP1BA

Citations in the biomedical literature:

Otopalatodigital syndrome type 1		Bernard-Soulier syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Giant platelet syndrome - Hemorrhagiparous thrombocytic dystrophy

	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 genetic disease - Rare hematologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D001606

Otopalatodigital syndrome type 1
	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 - Restricted joint mobility / joint stiffness / ankylosis - 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
Bernard-Soulier syndrome
(no data available)