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GENATLAS PHENOTYPE
last update : 19/11/2008
Symbol PHA
Location 1q41-q43
Name Pelger-Huet anomaly
Corresponding gene LBR
Main clinical features
  • characterized by hypolobulated neutrophil nuclei with coarse, skeletal abnormalities (chondrodystrophy) and altered chromatin structure, but major changes in nuclear morphology may not be essential to granulocyte functionality
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    hematology
    Type disease
    Gene product
    Name lamin B receptor
    Remark(s)