Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 27/06/2006
Symbol EDM1
Location 19p13.11
Name epiphyseal dysplasia multiple 1
Other name(s)
  • epiphyseal dysplasia, Fairbank type 1
  • multiple epiphyseal dysplasia, COMP-related
    • Corresponding gene COMP
    Other symbol(s) EPD1, MEDF
    Main clinical features
  • allelic to PSACH
  • characterized by pain and stiffness of multiple joints during childhood and adolescence and development of osteoarthritis in early adulthood, associated with short stature, stubby fingers and irregular and flattened epiphyses with delayed ossification and in any cases mild myopathy
    • Genetic determination autosomal dominant
    Related entries including milder Ribbing type
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name cartilage oligomeric protein (COMP), many non recurrent mutations
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     majority in exon 11
    Remark(s)