MCID: HML012
MIFTS: 17

Hemolytic Anemia Due to Hexokinase Deficiency malady

Blood diseases category

Summaries for Hemolytic Anemia Due to Hexokinase Deficiency

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46OMIM, 32MalaCards
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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 deficiency anemia. An important gene associated with Hemolytic Anemia Due to Hexokinase Deficiency is HK1 (hexokinase 1).

Description from OMIM:46 235700

Aliases & Classifications for Hemolytic Anemia Due to Hexokinase Deficiency

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
non-spherocytic hemolytic anemia due to hexokinase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

hemolytic anemia due to hexokinase deficiency 46
non-spherocytic hemolytic anemia due to hexokinase deficiency 48


External Ids:

OMIM46 235700
ICD10 via Orphanet26 D55.2
SNOMED-CT via Orphanet57 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
2deficiency anemia10.4
3congenital hemolytic anemia10.4
4hemolytic anemia10.4

Clinical Features for Hemolytic Anemia Due to Hexokinase Deficiency

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46OMIM
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Clinical features from OMIM:

235700

Clinical synopsis from OMIM:

235700

Drugs & Therapeutics for Hemolytic Anemia Due to Hexokinase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Hemolytic Anemia Due to Hexokinase Deficiency

Search CenterWatch 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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Genetic Variations for Hemolytic Anemia Due to Hexokinase Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hemolytic Anemia Due to Hexokinase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1HK1p.Leu529SerVAR_009878
2HK1p.Thr680SerVAR_023780

Expression for genes affiliated with Hemolytic Anemia Due to Hexokinase Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemolytic Anemia Due to Hexokinase Deficiency

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet