ODCs

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3 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 3
COMMON SIGNS: 4

2 OMIM references -
1 associated gene
22 signs/symptoms

Multiple epiphyseal dysplasia due to collagen 9 anomaly

Stickler syndrome type 1


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

Citations in the biomedical literature:

Multiple epiphyseal dysplasia due to collagen 9 anomaly		Stickler syndrome type 1

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


COMMON SIGNS	- Articular / joint pain / arthralgia - Autosomal dominant inheritance - Epiphyseal anomaly - Osteoarthritis

Multiple epiphyseal dysplasia due to collagen 9 anomaly		Stickler syndrome type 1
	Frequent - Abnormal gait - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Joint / articular deformation - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Occasional - Genu valgum - Genu varum		Very frequent - 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 - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal vertebral anomaly - Hyperextensible joints / articular hyperlaxity - Marfanoid morphotype - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Platyspondyly - Proptosis / exophthalmos - Sensorineural deafness / hearing loss Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia