MCID: GLT036
MIFTS: 16

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to

Categories: Genetic diseases, Metabolic diseases, Blood 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 40 73
Hemolytic Anemia Due to Glutathione Synthetase Deficiency 57 13
Glutathione Synthetase Deficiency Without 5-Oxoprolinuria 59
Glutathione Synthetase Deficiency of Erythrocytes 75
Glusynde 75
Gssde 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 231900
Orphanet 59 ORPHA289849
ICD10 via Orphanet 34 D55.1
UMLS via Orphanet 74 C1856399
MedGen 42 C1856399
UMLS 73 C1856399

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

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)

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

UniProtKB/Swiss-Prot : 75 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...

Symptoms via clinical synopsis from OMIM:

57
Heme:
hemolytic anemia

Lab:
glutathione synthetase deficiency
glyoxalase deficiency
glutathione low


Clinical features from OMIM:

231900

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

32
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 32 HP:0001878
2 glyoxalase deficiency 32 HP:0003258
3 glutathione synthetase deficiency 32 HP:0003343

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...

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GSS NM_000178.3(GSS): c.656A> G (p.Asp219Gly) single nucleotide variant Pathogenic rs28938472 GRCh37 Chromosome 20, 33524779: 33524779
2 GSS NM_000178.3(GSS): c.656A> G (p.Asp219Gly) single nucleotide variant Pathogenic rs28938472 GRCh38 Chromosome 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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