HK DEFICIENCY
MCID: HML052
MIFTS: 23

Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency (HK DEFICIENCY)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

MalaCards integrated aliases for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency:

Name: Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency 58
Hemolytic Anemia Due to Hexokinase Deficiency 58 30 13 6
Hexokinase Deficiency Hemolytic Anemia 54 74
Non-Spherocytic Hemolytic Anemia Due to Hexokinase Deficiency 60
Nonspherocytic Hemolytic Anemia Due to Hexokinase Deficiency 54
Anemia, Hemolytic, Due to Hexokinase Deficiency 41
Deficiency of Hexokinase 74
Hexokinase Deficiency 76
Hk Deficiency 76

Characteristics:

Orphanet epidemiological data:

60
non-spherocytic hemolytic anemia due to hexokinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

33
hemolytic anemia, nonspherocytic, due to hexokinase deficiency:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 235700
ICD10 via Orphanet 35 D55.2
Orphanet 60 ORPHA90031

Summaries for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

NIH Rare Diseases : 54 Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes. It can be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.

MalaCards based summary : Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency, also known as hemolytic anemia due to hexokinase deficiency, is related to hemolytic anemia and congenital hemolytic anemia. An important gene associated with Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency is HK1 (Hexokinase 1). Related phenotypes are splenomegaly and abnormality of metabolism/homeostasis

OMIM : 58 Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary by van Wijk et al., 2003). (235700)

UniProtKB/Swiss-Prot : 76 Hexokinase deficiency: Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature.

Related Diseases for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

Diseases related to Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hemolytic anemia 10.1
2 congenital hemolytic anemia 10.1
3 deficiency anemia 9.8

Symptoms & Phenotypes for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

Human phenotypes related to Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 cholelithiasis 33 HP:0001081
4 jaundice 33 HP:0000952
5 reticulocytosis 33 HP:0001923
6 hyperbilirubinemia 33 HP:0002904
7 cholecystitis 33 HP:0001082
8 normocytic anemia 33 HP:0001897
9 normochromic anemia 33 HP:0001895
10 nonspherocytic hemolytic anemia 33 HP:0001930

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
jaundice

Hematology:
hemolytic anemia
increased reticulocytes
decreased hemoglobin
increased fetal hemoglobin

Laboratory Abnormalities:
hyperbilirubinemia
decreased hexokinase activity in red blood cells

Clinical features from OMIM:

235700

Drugs & Therapeutics for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

Search Clinical Trials , NIH Clinical Center for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

Genetic Tests for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

Genetic tests related to Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency:

# Genetic test Affiliating Genes
1 Hemolytic Anemia Due to Hexokinase Deficiency 30 HK1

Anatomical Context for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

Publications for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

Articles related to Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency:

# Title Authors Year
1
HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia. ( 12393545 )
2003
2
Hexokinase mutations that produce nonspherocytic hemolytic anemia. ( 7655856 )
1995
3
Generalized hexokinase deficiency in the blood cells of a patient with nonspherocytic hemolytic anemia. ( 6848140 )
1983
4
Congenital hemolytic anemia due to hexokinase deficiency. ( 655151 )
1978

Variations for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 HK1 p.Leu529Ser VAR_009878 rs137853249
2 HK1 p.Thr680Ser VAR_023780 rs398122379

ClinVar genetic disease variations for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HK1 HK1, 96-BP DEL deletion Pathogenic
2 HK1 NM_033500.2(HK1): c.1550T> C (p.Leu517Ser) single nucleotide variant Pathogenic rs137853249 GRCh37 Chromosome 10, 71144104: 71144104
3 HK1 NM_033500.2(HK1): c.1550T> C (p.Leu517Ser) single nucleotide variant Pathogenic rs137853249 GRCh38 Chromosome 10, 69384348: 69384348
4 HK1 NM_033500.2(HK1): c.2003C> G (p.Thr668Ser) single nucleotide variant Pathogenic rs398122379 GRCh37 Chromosome 10, 71151884: 71151884
5 HK1 NM_033500.2(HK1): c.2003C> G (p.Thr668Ser) single nucleotide variant Pathogenic rs398122379 GRCh38 Chromosome 10, 69392128: 69392128
6 HK1 NM_000188.2(HK1): c.1370C> T (p.Thr457Met) single nucleotide variant Likely pathogenic rs1057517928 GRCh37 Chromosome 10, 71142347: 71142347
7 HK1 NM_000188.2(HK1): c.1370C> T (p.Thr457Met) single nucleotide variant Likely pathogenic rs1057517928 GRCh38 Chromosome 10, 69382591: 69382591

Expression for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

Search GEO for disease gene expression data for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency.

Pathways for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

GO Terms for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

Sources for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

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