GSSDE
MCID: GLT036
MIFTS: 19

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to (GSSDE)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic...

MalaCards integrated aliases for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to:

Name: Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 57 29 6 39 70
Hemolytic Anemia Due to Glutathione Synthetase Deficiency 57 12 13
Glutathione Synthetase Deficiency Without 5-Oxoprolinuria 12 58
Glutathione Synthetase Deficiency of Erythrocytes 72
Glusynde 72
Gssde 57

Characteristics:

OMIM®:

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


HPO:

31
glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0112252
OMIM® 57 231900
ICD10 via Orphanet 33 D55.1
UMLS via Orphanet 71 C1856399
Orphanet 58 ORPHA289849
MedGen 41 C1856399
UMLS 70 C1856399

Summaries for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic...

Disease Ontology : 12 A glutathione synthetase deficiency characterized by hemolitic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has material basis in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22.

MalaCards based summary : Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to, is also known as hemolytic anemia due to glutathione synthetase deficiency. An important gene associated with Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to is GSS (Glutathione Synthetase). Related phenotypes are hemolytic anemia and glyoxalase deficiency

OMIM® : 57 Two forms of glutathione synthetase deficiency have been described; a mild form, referred to as glutathione synthetase deficiency of erythrocytes, causing hemolytic anemia, and a more severe form causing 5-oxoprolinuria with secondary neurologic involvement (266130). (231900) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Glutathione synthetase deficiency of erythrocytes: Mild form causing hemolytic anemia.

Related Diseases for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic...

Symptoms & Phenotypes for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic...

Human phenotypes related to Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to:

31
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 31 HP:0001878
2 glyoxalase deficiency 31 HP:0003258
3 reduced glutathione synthetase level 31 HP:0003343

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Heme:
hemolytic anemia

Lab:
glutathione synthetase deficiency
glyoxalase deficiency
glutathione low

Clinical features from OMIM®:

231900 (Updated 05-Apr-2021)

Drugs & Therapeutics for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic...

Search Clinical Trials , NIH Clinical Center for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to

Genetic Tests for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic...

Genetic tests related to Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to:

# Genetic test Affiliating Genes
1 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 29 GSS

Anatomical Context for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic...

Publications for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic...

Articles related to Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to:

# Title Authors PMID Year
1
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. 57 6
8896573 1996
2
Glutathione synthetase deficiency as a cause of hereditary hemolytic disease. 57 6
5476481 1970
3
Long-term clinical outcome in patients with glutathione synthetase deficiency. 57
11445798 2001
4
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies. 6
11167850 2001
5
The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2. 57
8825653 1995
6
Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency. 57
3944259 1986
7
Biochemical heterogeneity in glutathione synthetase deficiency. 57
659603 1978
8
Congenital nonspherocytic hemolytic anemia, associated with glutathione deficiency of the erythrocytes. Hematologic, biochemical and genetic studies. 57
5901982 1966
9
Hereditary absence of reduced glutathione in the erythrocytes - a new clinical and biochemical entity? (Preliminary communication). 57
13731008 1961

Variations for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic...

ClinVar genetic disease variations for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GSS NM_000178.4(GSS):c.656A>G (p.Asp219Gly) SNV Pathogenic 8531 rs28938472 GRCh37: 20:33524779-33524779
GRCh38: 20:34936976-34936976

Expression for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic...

Search GEO for disease gene expression data for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to.

Pathways for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic...

GO Terms for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic...

Sources for Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic...

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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