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

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Aliases & Descriptions for Hemolytic Anemia Due to Hexokinase Deficiency:

Name: Hemolytic Anemia Due to Hexokinase Deficiency 52 24 27 12
Hexokinase Deficiency Hemolytic Anemia 48 68
Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency 52
Non-Spherocytic Hemolytic Anemia Due to Hexokinase Deficiency 54
 
Nonspherocytic Hemolytic Anemia Due to Hexokinase Deficiency 48
Deficiency of Hexokinase 68
Hexokinase Deficiency 70
Hk Deficiency 70

Characteristics:

Orphanet epidemiological data:

54
non-spherocytic hemolytic anemia due to hexokinase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

HPO:

64
hemolytic anemia due to hexokinase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 235700
Orphanet54 ORPHA90031
ICD10 via Orphanet31 D55.2

Summaries for Hemolytic Anemia Due to Hexokinase Deficiency

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NIH Rare Diseases:48 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 jaundice, cholelithiasis and cholecystitis. An important gene associated with Hemolytic Anemia Due to Hexokinase Deficiency is HK1 (Hexokinase 1).

OMIM:52 Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary... (235700) more...

UniProtKB/Swiss-Prot:70 Hexokinase deficiency: Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature.

Related Diseases for Hemolytic Anemia Due to Hexokinase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1hemolytic anemia10.0
2congenital hemolytic anemia10.0

Symptoms & Phenotypes for Hemolytic Anemia Due to Hexokinase Deficiency

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Symptoms by clinical synopsis from OMIM:

235700

Clinical features from OMIM:

235700

Human phenotypes related to Hemolytic Anemia Due to Hexokinase Deficiency:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 jaundice64 HP:0000952
2 cholelithiasis64 HP:0001081
3 cholecystitis64 HP:0001082
4 splenomegaly64 HP:0001744
5 normochromic anemia64 HP:0001895
6 normocytic anemia64 HP:0001897
7 reticulocytosis64 HP:0001923
8 nonspherocytic hemolytic anemia64 HP:0001930
9 hyperbilirubinemia64 HP:0002904

Drugs & Therapeutics for Hemolytic Anemia Due to Hexokinase Deficiency

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Interventional clinical trials:

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

Genetic Tests for Hemolytic Anemia Due to Hexokinase Deficiency

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Genetic tests related to Hemolytic Anemia Due to Hexokinase Deficiency:

id Genetic test Affiliating Genes
1 Hemolytic Anemia Due to Hexokinase Deficiency27 24 HK1

Anatomical Context for Hemolytic Anemia Due to Hexokinase Deficiency

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Publications for Hemolytic Anemia Due to Hexokinase Deficiency

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Articles related to Hemolytic Anemia Due to Hexokinase Deficiency:

idTitleAuthorsYear
1
Congenital hemolytic anemia due to hexokinase deficiency. (655151)
1978

Variations for Hemolytic Anemia Due to Hexokinase Deficiency

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

70
id Symbol AA change Variation ID SNP ID
1HK1p.Leu529SerVAR_009878rs137853249
2HK1p.Thr680SerVAR_023780rs398122379

Clinvar genetic disease variations for Hemolytic Anemia Due to Hexokinase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HK1HK1, 96-BP DELdeletionPathogenic
2HK1NM_ 033500.2(HK1): c.1550T> C (p.Leu517Ser)SNVPathogenicrs137853249GRCh37Chr 10, 71144104: 71144104
3HK1NM_ 033500.2(HK1): c.2003C> G (p.Thr668Ser)SNVPathogenicrs398122379GRCh37Chr 10, 71151884: 71151884

Expression for genes affiliated with Hemolytic Anemia Due to Hexokinase Deficiency

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

Pathways for genes affiliated with Hemolytic Anemia Due to Hexokinase Deficiency

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GO Terms for genes affiliated with Hemolytic Anemia Due to Hexokinase Deficiency

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Sources for Hemolytic Anemia Due to Hexokinase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet