MCID: HML012
MIFTS: 24

Hemolytic Anemia Due to Hexokinase Deficiency malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Hemolytic Anemia Due to Hexokinase Deficiency

About this section

Aliases & Descriptions for Hemolytic Anemia Due to Hexokinase Deficiency:

Name: Hemolytic Anemia Due to Hexokinase Deficiency 49 11 22 24
Hexokinase Deficiency Hemolytic Anemia 45 65
Non-Spherocytic Hemolytic Anemia Due to Hexokinase Deficiency 51
Nonspherocytic Hemolytic Anemia Due to Hexokinase Deficiency 45
 
Deficiency of Hexokinase 65
Hexokinase Deficiency 67
Hk Deficiency 67

Characteristics:

Orphanet epidemiological data:

51
non-spherocytic hemolytic anemia due to hexokinase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

HPO:

61
hemolytic anemia due to hexokinase deficiency:
Onset and clinical course: congenital onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 235700
Orphanet51 90031
ICD10 via Orphanet28 D55.2
UMLS65 C3502059, C0398563

Summaries for Hemolytic Anemia Due to Hexokinase Deficiency

About this section
NIH Rare Diseases:45 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 hexokinase deficiency hemolytic anemia, is related to hepatitis and plexiform neurofibroma, and has symptoms including hyperbilirubinemia, nonspherocytic hemolytic anemia and reticulocytosis. An important gene associated with Hemolytic Anemia Due to Hexokinase Deficiency is HK1 (Hexokinase 1).

OMIM:49 Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary... (235700) more...

UniProtKB/Swiss-Prot:67 Hexokinase deficiency: Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature.

Related Diseases for Hemolytic Anemia Due to Hexokinase Deficiency

About this section

Diseases related to Hemolytic Anemia Due to Hexokinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hepatitis10.3
2plexiform neurofibroma10.3
3neurofibroma10.3
4schizophrenia10.0

Symptoms for Hemolytic Anemia Due to Hexokinase Deficiency

About this section

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 9)
id Description Frequency HPO Source Accession
1 hyperbilirubinemia HP:0002904
2 nonspherocytic hemolytic anemia HP:0001930
3 reticulocytosis HP:0001923
4 normocytic anemia HP:0001897
5 normochromic anemia HP:0001895
6 splenomegaly HP:0001744
7 cholecystitis HP:0001082
8 cholelithiasis HP:0001081
9 jaundice HP:0000952

Drugs & Therapeutics for Hemolytic Anemia Due to Hexokinase Deficiency

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hemolytic Anemia Due to Hexokinase Deficiency

Genetic Tests for Hemolytic Anemia Due to Hexokinase Deficiency

About this section

Genetic tests related to Hemolytic Anemia Due to Hexokinase Deficiency:

id Genetic test Affiliating Genes
1 Hemolytic Anemia Due to Hexokinase Deficiency22 HK1

Anatomical Context for Hemolytic Anemia Due to Hexokinase Deficiency

About this section

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

About this section

Publications for Hemolytic Anemia Due to Hexokinase Deficiency

About this section

Articles related to Hemolytic Anemia Due to Hexokinase Deficiency:

idTitleAuthorsYear
1
Thoracic meningocele in neurofibromatosis: CT and MR findings. (1939761)
1991

Variations for Hemolytic Anemia Due to Hexokinase Deficiency

About this section

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

67
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:

5
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

About this section
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

About this section

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

About this section

Sources for Hemolytic Anemia Due to Hexokinase Deficiency

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet