MCID: HML012
MIFTS: 17

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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MalaCards based summary: 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 hemolytic anemia, and has symptoms including 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, 62UMLS, 26ICD10 via Orphanet
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Hemolytic Anemia Due to Hexokinase Deficiency, Aliases & Descriptions:

Name: Hemolytic Anemia Due to Hexokinase Deficiency 46
Non-Spherocytic Hemolytic Anemia Due to Hexokinase Deficiency 48
 
Haemolytic Anaemia Due to Hexokinase Deficiency 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 235700
ICD10 via Orphanet26 D55.2

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1nonspherocytic hemolytic anemia due to hexokinase deficiency10.8
2hemolytic anemia10.5
3congenital hemolytic anemia10.5

Symptoms for Hemolytic Anemia Due to Hexokinase Deficiency

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Symptoms by clinical synopsis from OMIM:

235700

Clinical features from OMIM:

235700

HPO human phenotypes related to Hemolytic Anemia Due to Hexokinase Deficiency:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 jaundice HP:0000952
3 cholelithiasis HP:0001081
4 cholecystitis HP:0001082
5 splenomegaly HP:0001744
6 normochromic anemia HP:0001895
7 normocytic anemia HP:0001897
8 reticulocytosis HP:0001923
9 nonspherocytic hemolytic anemia HP:0001930
10 hyperbilirubinemia HP:0002904
11 congenital onset HP:0003577

Drugs & Therapeutics for Hemolytic Anemia Due to Hexokinase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Hemolytic Anemia Due to Hexokinase Deficiency

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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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:

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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet