ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
2 associated genes
19 signs/symptoms

Stickler syndrome type 3

Otospondylomegaepiphyseal dysplasia

COL11A2	(UniProt - OMIM)		COL11A2	(UniProt - OMIM)
			COL2A1	(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		Otospondylomegaepiphyseal dysplasia
	Synonym(s): - Stickler syndrome, nonocular type		Synonym(s): - OSMED

	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 genetic 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: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Sensorineural deafness / hearing loss

Stickler syndrome type 3		Otospondylomegaepiphyseal dysplasia
	Very frequent - Articular / joint pain / arthralgia - Long philtrum - Mid-facial hypoplasia / short / small midface Frequent - Glossoptosis - Micrognathia / retrognathia / micrognathism / retrognathism - Osteoarthritis Occasional - Exostoses - Metacarpal anomalies / Archibald's sign - Pectus carinatum - Pectus excavatum		Very frequent - Abnormal vertebral size / shape - Anteverted nares / nostrils - Autosomal recessive inheritance - Flattened nose - Mesomelic micromelia - Metaphyseal anomaly - Restricted joint mobility / joint stiffness / ankylosis Frequent - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Failure to thrive / difficulties for feeding in infancy / growth delay - Immunodeficiency / increased susceptibility to infections / recurrent infections - Kyphosis - Lordosis Occasional - Carpal bones fusion / synostosis - Defect / anomaly of lacrimal system - Strabismus / squint - Ventricular septal defect / interventricular communication