HK DEFICIENCY
MCID: HML052
MIFTS: 26

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 56
Hemolytic Anemia Due to Hexokinase Deficiency 56 29 13 6
Hexokinase Deficiency Hemolytic Anemia 52 71
Non-Spherocytic Hemolytic Anemia Due to Hexokinase Deficiency 58
Nonspherocytic Hemolytic Anemia Due to Hexokinase Deficiency 52
Anemia, Hemolytic, Due to Hexokinase Deficiency 39
Deficiency of Hexokinase 71
Hexokinase Deficiency 73
Hk Deficiency 73

Characteristics:

Orphanet epidemiological data:

58
non-spherocytic hemolytic anemia due to hexokinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

31
hemolytic anemia, nonspherocytic, due to hexokinase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM 56 235700
ICD10 via Orphanet 33 D55.2
Orphanet 58 ORPHA90031
UMLS 71 C0398563 C3502059

Summaries for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

NIH Rare Diseases : 52 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 anemia, x-linked, with or without neutropenia and/or platelet abnormalities and deficiency 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 : 56 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 : 73 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 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.2
2 deficiency anemia 10.2
3 hemolytic anemia 10.2
4 congenital hemolytic anemia 10.2
5 erythroleukemia, familial 9.9
6 autosomal recessive disease 9.9

Graphical network of the top 20 diseases related to Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency:



Diseases related to Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

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

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 cholelithiasis 31 HP:0001081
4 jaundice 31 HP:0000952
5 cholecystitis 31 HP:0001082
6 reticulocytosis 31 HP:0001923
7 hyperbilirubinemia 31 HP:0002904
8 normocytic anemia 31 HP:0001897
9 normochromic anemia 31 HP:0001895
10 nonspherocytic hemolytic anemia 31 HP:0001930

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Hematology:
hemolytic anemia
increased reticulocytes
decreased hemoglobin
increased fetal hemoglobin

Skin Nails Hair Skin:
jaundice

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 29 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:

(show all 14)
# Title Authors PMID Year
1
Hexokinase mutations that produce nonspherocytic hemolytic anemia. 6 56 61
7655856 1995
2
HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia. 6 56
12393545 2003
3
Generalized hexokinase deficiency in the blood cells of a patient with nonspherocytic hemolytic anemia. 56 6
6848140 1983
4
Hereditary nonspherocytic hemolytic anemia due to a new hexokinase variant with reduced stability. 56
4027385 1985
5
Human erythrocyte hexokinase deficiency: a new variant with abnormal kinetic properties. 56
4052330 1985
6
Hexokinase "New Hyde Park": a low activity erythrocyte isozyme in a Chinese kindred. 56
7234862 1981
7
Hexokinase deficiency in erythrocytes: a new variant in 5 members of a Finnish family. 56
451452 1979
8
Human erythrocyte hexokinase deficiency. Characterization of a mutant enzyme with abnormal regulatory properties. 56
27532 1978
9
Congenital nonspherocytic hemolytic anemia with an unstable hexokinase variant. 56
618553 1978
10
Congenital nonspherocytic hemolytic anemia associated with an unusual erythrocyte hexokinase abnormality. 56
5458022 1970
11
Normal and variant isoenzymes of human blood cell hexokinase and the isoenzyme patterns in hemolytic anemia. 56
5427456 1970
12
Hemolytic anemia with impaired hexokinase activity. 56
4980929 1969
13
Hereditary hemolytic anemia with hexokinase deficiency. Role of hexokinase in erythrocyte aging. 56
6015552 1967
14
Congenital hemolytic anemia due to hexokinase deficiency. 61
655151 1978

Variations for Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HK1 HK1, 96-BP DELdeletion Pathogenic 14915
2 HK1 NM_033500.2(HK1):c.1550T>C (p.Leu517Ser)SNV Pathogenic 14916 rs137853249 10:71144104-71144104 10:69384348-69384348
3 HK1 NM_033500.2(HK1):c.2003C>G (p.Thr668Ser)SNV Pathogenic 55851 rs398122379 10:71151884-71151884 10:69392128-69392128
4 HK1 NM_033500.2(HK1):c.1334C>T (p.Thr445Met)SNV Pathogenic/Likely pathogenic 372693 rs1057517928 10:71142347-71142347 10:69382591-69382591

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

73
# Symbol AA change Variation ID SNP ID
1 HK1 p.Leu529Ser VAR_009878 rs137853249
2 HK1 p.Thr680Ser VAR_023780 rs398122379

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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