HAGRD
MCID: HML010
MIFTS: 21

Hemolytic Anemia Due to Glutathione Reductase Deficiency (HAGRD)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hemolytic Anemia Due to Glutathione Reductase Deficiency

MalaCards integrated aliases for Hemolytic Anemia Due to Glutathione Reductase Deficiency:

Name: Hemolytic Anemia Due to Glutathione Reductase Deficiency 57 58 72 29 6
Hagrd 72

Characteristics:

Orphanet epidemiological data:

58
hemolytic anemia due to glutathione reductase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable manifestations
patients experience hemolytic anemia in response to oxidative stress or ingestion of fava beans


HPO:

31
hemolytic anemia due to glutathione reductase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 618660
MeSH 44 D000745
ICD10 via Orphanet 33 D55.1
Orphanet 58 ORPHA90030

Summaries for Hemolytic Anemia Due to Glutathione Reductase Deficiency

UniProtKB/Swiss-Prot : 72 Hemolytic anemia due to glutathione reductase deficiency: An autosomal recessive disease characterized by hemolytic anemia and impaired activity of glutathione reductase. Patients experience hemolytic anemia in response to oxidative stress or ingestion of fava beans.

MalaCards based summary : Hemolytic Anemia Due to Glutathione Reductase Deficiency, is also known as hagrd. An important gene associated with Hemolytic Anemia Due to Glutathione Reductase Deficiency is GSR (Glutathione-Disulfide Reductase). Related phenotypes are cataract and hyperbilirubinemia

More information from OMIM: 618660

Related Diseases for Hemolytic Anemia Due to Glutathione Reductase Deficiency

Symptoms & Phenotypes for Hemolytic Anemia Due to Glutathione Reductase Deficiency

Human phenotypes related to Hemolytic Anemia Due to Glutathione Reductase Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 cataract 31 very rare (1%) HP:0000518
2 hyperbilirubinemia 31 HP:0002904
3 fava bean-induced hemolytic anemia 31 HP:0004814

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
jaundice

Laboratory Abnormalities:
hyperbilirubinemia
impaired activity of glutathione reductase

Hematology:
hemolytic anemia

Head And Neck Eyes:
cataracts

Clinical features from OMIM®:

618660 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hemolytic Anemia Due to Glutathione Reductase Deficiency

Search Clinical Trials , NIH Clinical Center for Hemolytic Anemia Due to Glutathione Reductase Deficiency

Genetic Tests for Hemolytic Anemia Due to Glutathione Reductase Deficiency

Genetic tests related to Hemolytic Anemia Due to Glutathione Reductase Deficiency:

# Genetic test Affiliating Genes
1 Hemolytic Anemia Due to Glutathione Reductase Deficiency 29 GSR

Anatomical Context for Hemolytic Anemia Due to Glutathione Reductase Deficiency

Publications for Hemolytic Anemia Due to Glutathione Reductase Deficiency

Articles related to Hemolytic Anemia Due to Glutathione Reductase Deficiency:

# Title Authors PMID Year
1
Molecular basis of glutathione reductase deficiency in human blood cells. 6 57
17185460 2007
2
Protection of phagocytic leukocytes by endogenous glutathione: studies in a family with glutathione reductase deficiency. 6 57
435643 1979
3
Familial deficiency of glutathione reductase in human blood cells. 57 6
947404 1976
4
Population study of erythrocyte glutathione reductase activity. I. Stimulation of the enzyme by flavin adenine dinucleotide and by riboflavin supplementation. 57
5550591 1971
5
Population study of erythrocyte glutathione reductase activity. II. Hematological data of subjects with low enzyme activity and stimulation characteristics in their families. 57
5550592 1971
6
Effect of flavin compounds on glutathione reductase activity: in vivo and in vitro studies. 57
5822598 1969
7
Purification and properties of an abnormal glutathione reductase from human erythrocytes. 57
5796112 1969
8
[Family studies on glutathione reductase deficiency in human erythrocytes]. 57
5704435 1968
9
Glutathione reductase in red blood cells: variant associated with gout. 57
6017801 1967
10
Hereditary absence of reduced glutathione in the erythrocytes - a new clinical and biochemical entity? (Preliminary communication). 57
13731008 1961

Variations for Hemolytic Anemia Due to Glutathione Reductase Deficiency

ClinVar genetic disease variations for Hemolytic Anemia Due to Glutathione Reductase Deficiency:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GSR GSR, 2.246-KB DEL Deletion Pathogenic 694660 GRCh37:
GRCh38:
2 GSR NM_000637.5(GSR):c.993G>A (p.Trp331Ter) SNV Pathogenic 694661 rs1345036090 GRCh37: 8:30546726-30546726
GRCh38: 8:30689209-30689209
3 GSR NM_000637.5(GSR):c.1121G>C (p.Gly374Ala) SNV Pathogenic 694662 rs1586033745 GRCh37: 8:30541637-30541637
GRCh38: 8:30684120-30684120
4 GSR NM_000637.5(GSR):c.512G>T (p.Arg171Leu) SNV Uncertain significance 993852 GRCh37: 8:30560738-30560738
GRCh38: 8:30703221-30703221
5 GSR NM_000637.5(GSR):c.698G>A (p.Arg233His) SNV Uncertain significance 993877 GRCh37: 8:30553994-30553994
GRCh38: 8:30696477-30696477
6 GSR NM_000637.5(GSR):c.1334C>T (p.Thr445Met) SNV Uncertain significance 994024 GRCh37: 8:30538506-30538506
GRCh38: 8:30680989-30680989
7 GSR NM_000637.5(GSR):c.696-10C>T SNV Benign 439766 rs8190996 GRCh37: 8:30554006-30554006
GRCh38: 8:30696489-30696489
8 GSR NM_000637.5(GSR):c.43A>G (p.Ser15Gly) SNV Benign 775262 rs144194626 GRCh37: 8:30585310-30585310
GRCh38: 8:30727793-30727793
9 GSR NM_000637.5(GSR):c.457C>T (p.Arg153Cys) SNV Benign 810945 rs8190955 GRCh37: 8:30565624-30565624
GRCh38: 8:30708107-30708107
10 GSR NM_000637.5(GSR):c.261T>C (p.Gly87=) SNV Benign 811569 rs2280855 GRCh37: 8:30585092-30585092
GRCh38: 8:30727575-30727575
11 GSR NM_000637.5(GSR):c.189C>T (p.Ala63=) SNV Benign 811570 rs2280854 GRCh37: 8:30585164-30585164
GRCh38: 8:30727647-30727647
12 GSR NM_000637.5(GSR):c.41C>A (p.Pro14Gln) SNV Benign 618147 rs192256606 GRCh37: 8:30585312-30585312
GRCh38: 8:30727795-30727795
13 GSR NM_000637.5(GSR):c.334-4dup Duplication Benign 993762 GRCh37: 8:30567422-30567423
GRCh38: 8:30709905-30709906

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

72
# Symbol AA change Variation ID SNP ID
1 GSR p.Gly374Ala VAR_083445

Expression for Hemolytic Anemia Due to Glutathione Reductase Deficiency

Search GEO for disease gene expression data for Hemolytic Anemia Due to Glutathione Reductase Deficiency.

Pathways for Hemolytic Anemia Due to Glutathione Reductase Deficiency

GO Terms for Hemolytic Anemia Due to Glutathione Reductase Deficiency

Sources for Hemolytic Anemia Due to Glutathione Reductase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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