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Multiple epiphyseal dysplasia type 1
1 OMIM reference -
1 associated gene
24 connected diseases
13 signs/symptoms
Disease Type of connection
Pseudoachondroplasia
Multiple epiphyseal dysplasia type 5
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Autosomal recessive Stickler syndrome
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Familial avascular necrosis of femoral head
Fibronectin glomerulopathy
Hypochondrogenesis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Synonym(s):
- EDM1
- MED1
- Polyepiphyseal dysplasia type 1

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

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
External references:
1 OMIM reference -
1 MeSH reference: C535501

Gene symbol UniProt reference OMIM reference
COMP P49747600310
Very frequent
- Autosomal dominant inheritance
- Epiphyseal anomaly
- Osteoarthritis

Frequent
- Abnormal gait
- Articular / joint pain / arthralgia
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Joint / articular deformation
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Occasional
- Genu valgum
- Genu varum