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GENATLAS PHENOTYPE
last update : 03-05-2010
Symbol CDAN1
Location 15q15.2
Name congenital dyserythropoietic anemia, type I
Corresponding gene CDAN1
Other symbol(s) DAC1, CDA1
Main clinical features
  • life long anemia splenomegaly, jaundice and secondary cirrhosis, hemochromatosis and normocytic binuclear or multinuclear erythroblast
  • erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus
  • may be associated to skeletal dysplasia, and to deterioration of the vision as a result of retinal angioid streaks and macular abnormalities (PMID: 18081704))
  • macrocytic anemia associated with ineffective erythropoiesis and the development of secondary hemochromatosis (PMID: 19336738))
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Gene product
    Name codanin 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function homozygosity for a G-to-A transition at the +5 consensus site position in intron 12 (IVS12+5G-A)
    various types     17 different mutations, all but 1 of the mutations were located in exons 12 to 28
    Remark(s)