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last update : 23-04-2009
Symbol OPTA2
Location 16p13.3
Name osteopetrosis, type II
Other name(s)
  • Albers-Schonberg disease
  • marble bones, autosomal dominant
  • osteosclerosis fragilis generalisata
  • Corresponding gene CLCN7
    Other symbol(s) OPTR2 , ADO2
    Main clinical features
  • or severe infantile autosomal recessive (OMIM 259700 )
  • 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 fatal outcome
  • Genetic determination autosomal dominant
    Related entries . including intermediate forms (IARO) with prognathism, genu valgum, hepatosplenomegaly and tendency to fractures
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name chloride channel 7 dominant negative mutations in heterozygotes, loss of function in affected homozygotes
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function