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GENATLAS PHENOTYPE
last update : 08-09-2017
Symbol AFHR
Location 15q21.1
Name amyloidosis familial, hemodialysis-related (B2M deposit)
Corresponding gene B2M
Other symbol(s) B2M
Main clinical features
  • systemic amyloidosis with a predilection for the synovium and bone that occurs with a disturbingly high frequency among patients on long-term hemodialysis. The clinical features include carpal tunnel syndrome, erosive arthropathy, spondyloarthropathy, lytic bone lesions, and pathologic fractures
  • slowly progressive gastrointestinal symptoms and autonomic neuropathy
  • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name microglobulin, beta-2
    Remark(s)