Details of Disease

General Information of Disease (ID: DISOJ4JU)

• Disease Name: Multiple epiphyseal dysplasia type 1
• Synonyms: multiple epiphyseal dysplasia 1; epiphyseal dysplasia, ribbing type; multiple epiphyseal dysplasia COMP-related; epiphyseal dysplasia multiple 1; epiphyseal dysplasia, Fairbank type; multiple epiphyseal dysplasia, Comp-related; epiphyseal dysplasia, multiple, 1; multiple epiphyseal dysplasia (disease) caused by mutation in COMP; epiphyseal dysplasia, multiple, type 1; COMP multiple epiphyseal dysplasia (disease); MED1; Polyepiphyseal dysplasia type 1; EDM1
• Definition: Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.
• Disease Hierarchy:
  DIS5FZLR: Multiple epiphyseal dysplasia
  DISOJ4JU: Multiple epiphyseal dysplasia type 1
• Disease Identifiers:
  MONDO ID: MONDO_0007561
  MESH ID: C535501
  UMLS CUI: C1838280
  OMIM ID: 132400
  MedGen ID: 325376
  Orphanet ID: 93308
  SNOMED CT ID: 715673002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COMP	OTS2FPMI	Strong	Autosomal dominant	[1]

References

• [1] Cartilage oligomeric matrix protein-deficient mice have normal skeletal development. Mol Cell Biol. 2002 Jun;22(12):4366-71. doi: 10.1128/MCB.22.12.4366-4371.2002.