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GENATLAS PHENOTYPE
last update : 13/06/2006
Symbol AK1
Location 9q34.11
Name hemolytic anemia
Other name(s) adenylate kinase deficiency
Corresponding gene AK1
Main clinical features chronic nonspherocytic hemolytic anemia
Genetic determination autosomal recessive
autosomal dominant
Function/system disorder hematology
Type disease
Gene product
Name adenylate kinase 1 (AK1)
Remark(s)
Genotype/Phenotype correlations
  • neonatal icterus, splenomegaly and anemia in patient in homozygous or compound heterozygous mutations