ODCs

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
1 associated gene
22 signs/symptoms

Autosomal dominant macrothrombocytopenia

Stickler syndrome type 1


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ITGA2B	(0.85)	COL2A1

Citations in the biomedical literature:

Autosomal dominant macrothrombocytopenia		Stickler syndrome type 1

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references

Stickler syndrome type 1
	Very frequent - Autosomal dominant inheritance - Cataract / lens opacification - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Long philtrum - Myopia - Retinal detachment - Short / small nose - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Frequent - Articular / joint pain / arthralgia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal anomaly - Epiphyseal vertebral anomaly - Hyperextensible joints / articular hyperlaxity - Marfanoid morphotype - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Osteoarthritis - Platyspondyly - Proptosis / exophthalmos - Sensorineural deafness / hearing loss Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia
Autosomal dominant macrothrombocytopenia
(no data available)