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GENATLAS PHENOTYPE
last update : 09-06-2017
Symbol CDAN4
Location 19p13.13
Name congenital dyserythropoietic anemia, 4
Corresponding gene KLF1
Main clinical features
  • inherited red blood cell disorders whose hallmarks are ineffective erythropoiesis, hemolysis, and morphological abnormalities of erythroblasts in bone marrow
  • Genetic determination autosomal dominant
    Function/system disorder hematology
    Type disease
    Remark(s) . mutation having a dominant-negative effect on KLF1 transcriptional activity and unexpectedly abolishes the expression of the water channel AQP1 and the adhesion molecule CD44 (PMID: 21055715))