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GENATLAS PHENOTYPE
last update : 26/06/2006
Symbol DPD1
Location 19q13.2
Name Camurati-Engelmann disease
Other name(s) progressive diaphyseal dysplasia
Corresponding gene TGFB1
Other symbol(s) CED, PDD
Main clinical features
  • characterized by a onset before 30 years, severe pain in the legs, muscle weakness, a waddling gait associated with diaphyseal cortical thickening, periosteal and endosteal sclerosis of the long bones and basal skull sclerosis
    • Genetic determination autosomal dominant
    Prevalence 1/100000
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name TGFB1 transforming growth factor beta
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mostly mutations in exon 4, disrupting the cysteine bonds betwween LAP homodimers