HK DEFICIENCY
MCID: HML012
MIFTS: 23

Hemolytic Anemia Due to Hexokinase Deficiency (HK DEFICIENCY) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Hemolytic Anemia Due to Hexokinase Deficiency

Aliases & Descriptions for Hemolytic Anemia Due to Hexokinase Deficiency:

Name: Hemolytic Anemia Due to Hexokinase Deficiency 54 24 29 13
Hexokinase Deficiency Hemolytic Anemia 50 69
Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency 54
Non-Spherocytic Hemolytic Anemia Due to Hexokinase Deficiency 56
Nonspherocytic Hemolytic Anemia Due to Hexokinase Deficiency 50
Deficiency of Hexokinase 69
Hexokinase Deficiency 66
Hk Deficiency 66

Characteristics:

Orphanet epidemiological data:

56
non-spherocytic hemolytic anemia due to hexokinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

HPO:

32
hemolytic anemia due to hexokinase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 235700
Orphanet 56 ORPHA90031
ICD10 via Orphanet 34 D55.2

Summaries for Hemolytic Anemia Due to Hexokinase Deficiency

NIH Rare Diseases : 50 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. last updated: 2/1/2013

MalaCards based summary : Hemolytic Anemia Due to Hexokinase Deficiency, also known as hexokinase deficiency hemolytic anemia, is related to hemolytic anemia and congenital hemolytic anemia, and has symptoms including splenomegaly, cholelithiasis and jaundice. An important gene associated with Hemolytic Anemia Due to Hexokinase Deficiency is HK1 (Hexokinase 1).

OMIM : 54 Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary... (235700) more...

UniProtKB/Swiss-Prot : 66 Hexokinase deficiency: Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature.

Related Diseases for Hemolytic Anemia Due to Hexokinase Deficiency

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

id Related Disease Score Top Affiliating Genes
1 hemolytic anemia 10.0
2 congenital hemolytic anemia 10.0

Symptoms & Phenotypes for Hemolytic Anemia Due to Hexokinase Deficiency

Symptoms by clinical synopsis from OMIM:

235700

Clinical features from OMIM:

235700

Human phenotypes related to Hemolytic Anemia Due to Hexokinase Deficiency:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 cholelithiasis 32 HP:0001081
3 jaundice 32 HP:0000952
4 reticulocytosis 32 HP:0001923
5 hyperbilirubinemia 32 HP:0002904
6 cholecystitis 32 HP:0001082
7 normocytic anemia 32 HP:0001897
8 normochromic anemia 32 HP:0001895
9 nonspherocytic hemolytic anemia 32 HP:0001930

Drugs & Therapeutics for Hemolytic Anemia Due to Hexokinase Deficiency

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

Genetic Tests for Hemolytic Anemia Due to Hexokinase Deficiency

Genetic tests related to Hemolytic Anemia Due to Hexokinase Deficiency:

id Genetic test Affiliating Genes
1 Hemolytic Anemia Due to Hexokinase Deficiency 29 24 HK1

Anatomical Context for Hemolytic Anemia Due to Hexokinase Deficiency

Publications for Hemolytic Anemia Due to Hexokinase Deficiency

Articles related to Hemolytic Anemia Due to Hexokinase Deficiency:

id Title Authors Year
1
Congenital hemolytic anemia due to hexokinase deficiency. ( 655151 )
1978

Variations for Hemolytic Anemia Due to Hexokinase Deficiency

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

66
id 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 Due to Hexokinase Deficiency:

6
id 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.2003C> G (p.Thr668Ser) single nucleotide variant Pathogenic rs398122379 GRCh37 Chromosome 10, 71151884: 71151884

Expression for Hemolytic Anemia Due to Hexokinase Deficiency

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

Pathways for Hemolytic Anemia Due to Hexokinase Deficiency

GO Terms for Hemolytic Anemia Due to Hexokinase Deficiency

Sources for Hemolytic Anemia Due to Hexokinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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