ODCs

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2 OMIM references -
1 associated gene
22 signs/symptoms

PROTEIN INTERACTIONS: 4
COMMON SIGNS: 9

2 OMIM references -
4 associated genes
17 signs/symptoms

Stickler syndrome type 1

Autosomal recessive Stickler syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1 COL2A1 COL2A1 COL2A1	(0.75) (0.62) (0.52) (0.52)	COL9A1 COL9A3 COL11A1 COL9A2

Citations in the biomedical literature:

Stickler syndrome type 1		Autosomal recessive Stickler syndrome

	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 (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): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Hyperextensible joints / articular hyperlaxity - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Myopia - Platyspondyly - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia - Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Stickler syndrome type 1		Autosomal recessive Stickler syndrome
	Very frequent - Autosomal dominant inheritance - Cataract / lens opacification - Long philtrum - Retinal detachment - Short / small nose Frequent - Articular / joint pain / arthralgia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal vertebral anomaly - Marfanoid morphotype - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Osteoarthritis - Proptosis / exophthalmos Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability		Very frequent - Autosomal recessive inheritance - Flat face - Genu valgum - Short stature / dwarfism / nanism Frequent - Abnormal vertebral size / shape - Astigmatism - Retinitis pigmentosa / retinal pigmentary changes - Retinopathy