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GENATLAS PHENOTYPE
last update : 23-04-2009
Symbol OPTB2
Location 13q14.11
Name osteopetrosis type B2
Corresponding gene TNFSF11
Main clinical features
  • severe, early onset
  • characterized by the development of abnormally dense bones due to a failure of osteoclasts to resorb bone, severe anemia, hepatosplenomegaly, progressive deafness and blindness and a slow progression
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    ear
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function lead to an osteoclast-poor form of osteopetrosis
    Remark(s)