KEGG   DISEASE: Multiple epiphyseal dysplasia (MED)Help
Entry
H00476                      Disease                                

Name
Multiple epiphyseal dysplasia (MED)
Description
Multiple epiphyseal dysplasia (MED) is a genetically heterogeneous condition where ossification of epiphyses is delayed. Mutations causing MED have been identified in COMP, DTDST, MATN3, COL9A1, COL9A2, and COL9A3.
Category
Skeletal dysplasia
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H00476  Multiple epiphyseal dysplasia (MED)
BRITE hierarchy
Gene
(EDM1) COMP [HSA:1311] [KO:K04659]
(EDM2) COL9A2 [HSA:1298] [KO:K08131]
(EDM3) COL9A3 [HSA:1299] [KO:K08131]
(EDM4) DTDST [HSA:1836] [KO:K14701]
(EDM5) MATN3 [HSA:4148] [KO:K19467]
(EDM6) COL9A1 [HSA:1297] [KO:K08131]
Other DBs
Reference
PMID:18328978 (description, gene)
  Authors
Unger S, Bonafe L, Superti-Furga A
  Title
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.
  Journal
Best Pract Res Clin Rheumatol 22:19-32 (2008)
DOI:10.1016/j.berh.2007.11.009
Reference
PMID:12687890 (description, gene)
  Authors
Chapman KL, Briggs MD, Mortier GR
  Title
Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.
  Journal
Pediatr Pathol Mol Med 22:53-75 (2003)
Reference
PMID:11891674 (description, gene)
  Authors
Unger S, Hecht JT
  Title
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
  Journal
Am J Med Genet 106:244-50 (2001)
DOI:10.1002/ajmg.10234
Reference
PMID:11565064 (gene)
  Authors
Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perala M, Carter L, Spector TD, Kolodziej L, Seppanen U, Glazar R, Krolewski J, Latos-Bielenska A, Ala-Kokko L
  Title
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
  Journal
Am J Hum Genet 69:969-80 (2001)
DOI:10.1086/324023

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