Details of Disease

General Information of Disease (ID: DIS8ZB2N)

• Disease Name: Multiple epiphyseal dysplasia type 5
• Synonyms: Microepiphyseal dysplasia, bilateral hereditary; multiple epiphyseal dysplasia, MATN3 related; epiphyseal dysplasia multiple 5; multiple epiphyseal dysplasia, MATN3-related; multiple epiphyseal dysplasia 5; epiphyseal dysplasia, multiple, 5; bilateral hereditary micro-epiphyseal dysplasia; MATN3 multiple epiphyseal dysplasia (disease); Polyepiphyseal dysplasia type 5; MED5; EDM5; epiphyseal dysplasia, multiple, type 5; multiple epiphyseal dysplasia (disease) caused by mutation in MATN3; BHMED
• Definition: Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.
• Disease Hierarchy:
  DIS5FZLR: Multiple epiphyseal dysplasia
  DIS8ZB2N: Multiple epiphyseal dysplasia type 5
• Disease Identifiers:
  MONDO ID: MONDO_0011765
  MESH ID: C535505
  UMLS CUI: C1846843
  OMIM ID: 607078
  MedGen ID: 335542
  Orphanet ID: 93311
  SNOMED CT ID: 715674008

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
MATN3	OTH9H74J	Definitive	Autosomal dominant	[1]

References

• [1] Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. J Med Genet. 2004 Jan;41(1):52-9. doi: 10.1136/jmg.2003.011429.