ODCs

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Otospondylomegaepiphyseal dysplasia

1 OMIM reference -
2 associated genes
19 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Stickler syndrome type 1

2 OMIM references -
1 associated gene
22 signs/symptoms

Otospondylomegaepiphyseal dysplasia

Stickler syndrome type 1

COL11A2	(UniProt - OMIM)		COL2A1	(UniProt - OMIM)
COL2A1	(UniProt - OMIM)


COMMON GENES	COL2A1


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

Citations in the biomedical literature:

Otospondylomegaepiphyseal dysplasia		Stickler syndrome type 1
	Synonym(s): - OSMED		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Sensorineural deafness / hearing loss

Otospondylomegaepiphyseal dysplasia		Stickler syndrome type 1
	Very frequent - Abnormal vertebral size / shape - Anteverted nares / nostrils - Autosomal recessive inheritance - Flat cheek bones / malar hypoplasia - 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		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 - Epiphyseal anomaly - Epiphyseal vertebral anomaly - Hyperextensible joints / articular hyperlaxity - Marfanoid morphotype - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Osteoarthritis - Platyspondyly - Proptosis / exophthalmos Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia