Phenotypes associated with the disease non-spherocytic hemolytic anemia due to hexokinase deficiency (OMIM:235700):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:7655856)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. (OMIM:235700)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: IEA. (OMIM:235700)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:7655856)
- Cholecystitis (HP:0001082): The presence of inflammatory changes in the gallbladder. Evidence: IEA. (OMIM:235700)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: TAS. (OMIM:235700)
- Normochromic anemia (HP:0001895). Evidence: IEA. (OMIM:235700)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: PCS. Frequency: 1/1. (PMID:7655856)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: IEA. (OMIM:235700)
- Reduced erythrocyte hexokinase activity (HP:6000559): Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle. Evidence: PCS. Frequency: 1/1. (PMID:7234862)
- Normocytic anemia (HP:0001897): A kind of anemia in which the volume of the red blood cells is normal. Evidence: IEA. (OMIM:235700)
- Nonspherocytic hemolytic anemia (HP:0001930). Evidence: PCS. Frequency: 1/1. (PMID:7655856)