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GENATLAS PHENOTYPE
last update : 16-09-2016
Symbol FMTD2
Location 6q15
Name frontometaphyseal dysplasia 2
Corresponding gene MAP3K7
Other symbol(s) FMD2
Main clinical features
  • progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the long bones, small and large joint contractures,
  • other extraskeletal developmental abnormalities, hearing loss, facial dysmorphism hypertelorism, keloid
    • Genetic determination not applicable
    Function/system disorder ear
    osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function  
    Remark(s)
  • mutations result in enhanced MAP3K7 autophosphorylation and alteration of MAPK and NFKB1 signal transduction emanating from this protein complex (PMID: 27426733))