MCID: HML012
MIFTS: 16

Hemolytic Anemia Due to Hexokinase Deficiency malady

Genetic diseases, Blood diseases, Rare diseases categories
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Summaries for Hemolytic Anemia Due to Hexokinase Deficiency

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47OMIM, 33MalaCards
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MalaCards: Hemolytic Anemia Due to Hexokinase Deficiency, also known as non-spherocytic hemolytic anemia due to hexokinase deficiency, is related to nonspherocytic hemolytic anemia due to hexokinase deficiency and congenital hemolytic anemia. An important gene associated with Hemolytic Anemia Due to Hexokinase Deficiency is HK1 (hexokinase 1).

Description from OMIM:47 235700

Aliases & Classifications for Hemolytic Anemia Due to Hexokinase Deficiency

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47OMIM, 49Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49
non-spherocytic hemolytic anemia due to hexokinase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

hemolytic anemia due to hexokinase deficiency 47
non-spherocytic hemolytic anemia due to hexokinase deficiency 49


External Ids:

OMIM47 235700
ICD10 via Orphanet26 D55.2
SNOMED-CT via Orphanet59 191177007

Related Diseases for Hemolytic Anemia Due to Hexokinase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Hemolytic Anemia Due to Hexokinase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1nonspherocytic hemolytic anemia due to hexokinase deficiency10.8
2congenital hemolytic anemia10.4
3hemolytic anemia10.4

Symptoms for Hemolytic Anemia Due to Hexokinase Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

235700

Clinical features from OMIM:

235700

Drugs & Therapeutics for Hemolytic Anemia Due to Hexokinase Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Hemolytic Anemia Due to Hexokinase Deficiency

Genetic Tests for Hemolytic Anemia Due to Hexokinase Deficiency

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Anatomical Context for Hemolytic Anemia Due to Hexokinase Deficiency

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Animal Models for Hemolytic Anemia Due to Hexokinase Deficiency or affiliated genes

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Publications for Hemolytic Anemia Due to Hexokinase Deficiency

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52PubMed
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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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Anemia Due to Hexokinase Deficiency:

64
id Symbol AA change Variation ID SNP ID
1HK1p.Leu529SerVAR_009878
2HK1p.Thr680SerVAR_023780

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

1
id Gene Name Type Significance SNP ID Assembly Location
1HK1HK1, 96-BP DELdeletionPathogenic
2HK1NM_033500.2(HK1): c.1550T> C (p.Leu517Ser)single nucleotide variantPathogenicrs137853249GRCh37Chr 10, 71144104: 71144104
3HK1NM_033500.2(HK1): c.2003C> G (p.Thr668Ser)single nucleotide variantPathogenicrs398122379GRCh37Chr 10, 71151884: 71151884

Expression for genes affiliated with Hemolytic Anemia Due to Hexokinase Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemolytic Anemia Due to Hexokinase Deficiency

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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Compounds 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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Products for genes affiliated with Hemolytic Anemia Due to Hexokinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemolytic Anemia Due to Hexokinase Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet