ODCs

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3 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 3
COMMON SIGNS: 7

1 OMIM reference -
1 associated gene
38 signs/symptoms

Multiple epiphyseal dysplasia due to collagen 9 anomaly

Kniest dysplasia


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		Kniest dysplasia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537207


COMMON SIGNS	- Autosomal dominant inheritance - Epiphyseal anomaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Joint / articular deformation - Osteoarthritis - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism

Multiple epiphyseal dysplasia due to collagen 9 anomaly		Kniest dysplasia
	Frequent - Abnormal gait - Articular / joint pain / arthralgia - Short limbs / micromelia / brachymelia Occasional - Genu valgum - Genu varum		Very frequent - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Kyphosis - Lordosis - Mesomelic micromelia - Metaphyseal anomaly - Mid-facial hypoplasia / short / small midface - Myopia - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Retinopathy - Rhizomelic micromelia - Scoliosis - Short rib cage / thorax - Vitreous anomalies / hyalitis / persistent vitreous vascularisation - Wide rib cage / thorax Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hearing loss / hypoacusia / deafness - Proptosis / exophthalmos - Retinal detachment - Round face Occasional - Cataract / lens opacification - Glaucoma - Glossoptosis - Lens dislocation / luxation / subluxation / ectopia lentis - Micrognathia / retrognathia / micrognathism / retrognathism - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Tracheal atresia / stenosis - Tracheomalacia / tracheobronchomalacia