MCID: HML012
MIFTS: 22

Hemolytic Anemia Due to Hexokinase Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Hemolytic Anemia Due to Hexokinase Deficiency

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NIH Rare Diseases:41 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 non-spherocytic hemolytic anemia due to hexokinase deficiency, is related to hemolytic anemia and congenital hemolytic anemia, and has symptoms including autosomal recessive inheritance, jaundice and cholelithiasis. An important gene associated with Hemolytic Anemia Due to Hexokinase Deficiency is HK1 (hexokinase 1).

OMIM:45 Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary... (235700) more...

Aliases & Classifications for Hemolytic Anemia Due to Hexokinase Deficiency

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Sources:
45OMIM, 10diseasecard, 22GTR, 60UMLS, 41NIH Rare Diseases, 47Orphanet, 26ICD10 via Orphanet
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Hemolytic Anemia Due to Hexokinase Deficiency, Aliases & Descriptions:

Name: Hemolytic Anemia Due to Hexokinase Deficiency 45 10 22 60
Non-Spherocytic Hemolytic Anemia Due to Hexokinase Deficiency 41 47
Hexokinase Deficiency Hemolytic Anemia 41 60
 
Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency 45
Nonspherocytic Hemolytic Anemia Due to Hexokinase Deficiency 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
non-spherocytic hemolytic anemia due to hexokinase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM45 235700
Orphanet47 90031
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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hemolytic anemia10.4
2congenital hemolytic anemia10.4

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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Genetic tests related to Hemolytic Anemia Due to Hexokinase Deficiency:

id Genetic test Affiliating Genes
1 Hemolytic Anemia Due to Hexokinase Deficiency22

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:

62
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 Variation 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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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
  • Proteins
  • Kits and Assays

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet