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Stickler syndrome type 3

1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Stickler syndrome type 1

2 OMIM references -
1 associated gene
22 signs/symptoms

Stickler syndrome type 3

Stickler syndrome type 1

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A2	(0.52)	COL2A1

Citations in the biomedical literature:

Stickler syndrome type 3		Stickler syndrome type 1
	Synonym(s): - Stickler syndrome, nonocular type		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537494		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Articular / joint pain / arthralgia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Long philtrum - Osteoarthritis - Sensorineural deafness / hearing loss

Stickler syndrome type 3		Stickler syndrome type 1
	Very frequent - Flat cheek bones / malar hypoplasia - Mid-facial hypoplasia / short / small midface Frequent - Glossoptosis - Micrognathia / retrognathia / micrognathism / retrognathism Occasional - Exostoses - Metacarpal anomalies / Archibald's sign - Pectus carinatum - Pectus excavatum		Very frequent - Autosomal dominant inheritance - Cataract / lens opacification - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Myopia - Retinal detachment - Short / small nose - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Frequent - Epiphyseal anomaly - Epiphyseal vertebral anomaly - Hyperextensible joints / articular hyperlaxity - Marfanoid morphotype - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Platyspondyly - Proptosis / exophthalmos Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia