MCID: HML012
MIFTS: 10

Hemolytic Anemia Due to Hexokinase Deficiency malady

Blood category

Summaries for Hemolytic Anemia Due to Hexokinase Deficiency

Sources:
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 deficiency 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

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


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

Related Diseases for Hemolytic Anemia Due to Hexokinase Deficiency

Sources:
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

Clinical Features for Hemolytic Anemia Due to Hexokinase Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

235700

Clinical synopsis from OMIM:

235700

Drugs & Therapeutics for Hemolytic Anemia Due to Hexokinase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hemolytic Anemia Due to Hexokinase Deficiency

Drug clinical trials:

Search ClinicalTrials for Hemolytic Anemia Due to Hexokinase Deficiency

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

Anatomical Context for Hemolytic Anemia Due to Hexokinase Deficiency

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

Sources:
28inGenious Targeting Laboratory
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Publications for Hemolytic Anemia Due to Hexokinase Deficiency

Genetic Variations for Hemolytic Anemia Due to Hexokinase Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hemolytic Anemia Due to Hexokinase Deficiency:

63
id Symbol AA change Variation SNP ID
1HK1p.Leu529SerVAR_009878
2HK1p.Thr680SerVAR_023780

Expression for genes affiliated with Hemolytic Anemia Due to Hexokinase Deficiency

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

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

Compounds for genes affiliated with Hemolytic Anemia Due to Hexokinase Deficiency

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

Products for genes affiliated with Hemolytic Anemia Due to Hexokinase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemolytic Anemia Due to Hexokinase Deficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet