ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
26 signs/symptoms

Stickler syndrome type 2

Spondyloepiphyseal dysplasia congenita


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A1	(0.52)	COL2A1

Citations in the biomedical literature:

Stickler syndrome type 2		Spondyloepiphyseal dysplasia congenita
	Synonym(s): (no synonyms)		Synonym(s): - Congenital spondyloepiphyseal dysplasia - SEDC - Spranger-Wiedemann 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 (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: unknown Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537493		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Myopia - Retinal detachment

Stickler syndrome type 2		Spondyloepiphyseal dysplasia congenita
	Very frequent - Corneal clouding / opacity / vascularisation - Sensorineural deafness / hearing loss - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Frequent - Retinopathy		Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax - Short stature / dwarfism / nanism Frequent - Broad forehead - Flat face - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Lordosis - Osteoarthritis - Restricted joint mobility / joint stiffness / ankylosis - Talipes-varus / metatarsal varus Occasional - Glaucoma - Hearing loss / hypoacusia / deafness - Kyphosis - Nystagmus - Scoliosis