ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2

2 OMIM references -
2 associated genes
22 signs/symptoms

Spondyloepiphyseal dysplasia, Kimberley type

Torg-Winchester syndrome

ACAN	(UniProt - OMIM)		MMP14	(UniProt - OMIM)
			MMP2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACAN ACAN	(0.65) (0.52)	MMP14 MMP2

Citations in the biomedical literature:

Spondyloepiphyseal dysplasia, Kimberley type		Torg-Winchester syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Winchester 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 genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy 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: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C536051


COMMON SIGNS	- Epiphyseal anomaly - Short stature / dwarfism / nanism

Spondyloepiphyseal dysplasia, Kimberley type		Torg-Winchester syndrome
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Osteoarthritis - Short limbs / micromelia / brachymelia - Short rib cage / thorax		Very frequent - Arthritis / synovitis / synovial proliferation - Autosomal recessive inheritance - Claw hand / retracted fingers - Metaphyseal anomaly - Osteolysis / osteoclasia / bone destruction / erosions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Restricted joint mobility / joint stiffness / ankylosis - Tarsal anomaly / fusion / synostosis - Wrist / carpal anomalies Frequent - Coarse face - Corneal clouding / opacity / vascularisation - Frontal bossing / prominent forehead - Hirsutism / hypertrichosis / Increased body hair - Irregular / in bands / reticular skin hyperpigmentation - Long / large / bulbous nose - Thick lips - Thick skin / pachydermia / orange skin - Thickened / hypertrophic / fibromatous gingivae Occasional - Atrial septal defect / interauricular communication - Subcutaneous nodules / lipomas / tumefaction / swelling