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GENATLAS PHENOTYPE
last update : 23-04-2009
Symbol OPTB1
Location 11q13.2
Name osteopetrosis, lethal B1
Corresponding gene TCIRG1
Main clinical features
  • characterized by the development of abnormally dense bones due to a failure of osteoclasts to resorb bone, acrocephaly, severe pancytopenia, hepatosplenomegaly, progressive deafness and blindness, and a fatal outcome around 20 years inabsence of bone marrow transplantation, murine osteosclerosis (oc) homolog
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    ear
    eye
    Type disease
    Gene product
    Name T cell immune regulator 1
    Remark(s)