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GENATLAS PHENOTYPE
last update : 27-03-2013
Symbol MAND2
Location 11q22.2
Name metaphyseal anadysplasia 2
Other name(s)
  • spondyloepimetaphyseal dysplasia, Missouri type
    • Corresponding gene MMP13
    Other symbol(s) MANDP1
    Main clinical features
  • skeletal dysplasia characterized by severe skeletal changes that, in contrast with the progressive course of most other skeletal dysplasias, resolve spontaneously with age
  • radiographic examination demonstrated extensive metaphyseal widening and fraying in all cases
  • a normal stature in adolescence and improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia
    • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function in recessive forms
    Remark(s) . heterozygosity for critical MMP13 mutations is enough to induce the premature activation of proMMP13 and prematurely activated MMP13 in the endoplasmic reticulum degrades both itself (autocatalytic degradation) and the structurally normal MMP9 (transcatalytic degradation) (Lausch 2009)