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Bernard-Soulier syndrome

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

PROTEIN INTERACTIONS: 1

Spondylocarpotarsal synostosis

1 OMIM reference -
1 associated gene
12 signs/symptoms

Bernard-Soulier syndrome

Spondylocarpotarsal synostosis

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GP1BA	(0.78)	FLNB

Citations in the biomedical literature:

Bernard-Soulier syndrome		Spondylocarpotarsal synostosis
	Synonym(s): - Giant platelet syndrome - Hemorrhagiparous thrombocytic dystrophy		Synonym(s): - Synspondylism

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		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: 2 OMIM references - 1 MeSH reference: D001606		External references: 1 OMIM reference - No MeSH references

Spondylocarpotarsal synostosis
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Carpal bones fusion / synostosis - Lordosis - Restricted joint mobility / joint stiffness / ankylosis - 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
Bernard-Soulier syndrome
(no data available)