ODCs

Cytoscape Web

Click node...

Dysspondyloenchondromatosis

1 associated gene
22 signs/symptoms

PROTEIN INTERACTIONS: 4
COMMON SIGNS: 5

Autosomal recessive Stickler syndrome

2 OMIM references -
4 associated genes
17 signs/symptoms

Dysspondyloenchondromatosis

Autosomal recessive Stickler syndrome

COL2A1	(UniProt - OMIM)		COL11A1	(UniProt - OMIM)
			COL9A1	(UniProt - OMIM)
			COL9A2	(UniProt - OMIM)
			COL9A3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1 COL2A1 COL2A1 COL2A1	(0.75) (0.62) (0.52) (0.52)	COL9A1 COL9A3 COL11A1 COL9A2

Citations in the biomedical literature:

Dysspondyloenchondromatosis		Autosomal recessive Stickler syndrome

	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): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Genu valgum - Platyspondyly - Short stature / dwarfism / nanism

Dysspondyloenchondromatosis		Autosomal recessive Stickler syndrome
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Anomalies of spine, vertebrae and pelvis - Exostoses - Joint / articular deformation - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Scoliosis - Vascular anomalies of skin / mucosae - Vertebral segmentation anomaly / hemivertebrae Frequent - Delayed bone age - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Osteoarthritis - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Autosomal dominant inheritance - Bone / osseous neoplasm / tumor / carcinoma / cancer - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral calcifications		Very frequent - Flat face - Sensorineural deafness / hearing loss Frequent - Abnormal vertebral size / shape - Astigmatism - Epiphyseal anomaly - Hyperextensible joints / articular hyperlaxity - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Myopia - Retinitis pigmentosa / retinal pigmentary changes - Retinopathy - Visual loss / blindness / amblyopia - Vitreous anomalies / hyalitis / persistent vitreous vascularisation