KEGG   DISEASE: H00476Help
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 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]
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)
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)

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