MCID: HML011
MIFTS: 18

Hemolytic Anemia Due to Glutathione Synthetase Deficiency

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

Aliases & Classifications for Hemolytic Anemia Due to Glutathione Synthetase Deficiency

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

Name: Hemolytic Anemia Due to Glutathione Synthetase Deficiency 54 13
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 29
Glutathione Synthetase Deficiency Without 5-Oxoprolinuria 56
Glutathione Synthetase Deficiency of Erythrocytes 71
Glusynde 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 54 231900
Orphanet 56 ORPHA289849
UMLS via Orphanet 70 C1856399
ICD10 via Orphanet 34 D55.1
MedGen 40 C1856399

Summaries for Hemolytic Anemia Due to Glutathione Synthetase Deficiency

OMIM : 54
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 : Hemolytic Anemia Due to Glutathione Synthetase Deficiency, is also known as glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to, and has symptoms including hemolytic anemia, glutathione synthetase deficiency and glyoxalase deficiency. An important gene associated with Hemolytic Anemia Due to Glutathione Synthetase Deficiency is GSS (Glutathione Synthetase).

UniProtKB/Swiss-Prot : 71 Glutathione synthetase deficiency of erythrocytes: Mild form causing hemolytic anemia.

Related Diseases for Hemolytic Anemia Due to Glutathione Synthetase Deficiency

Symptoms & Phenotypes for Hemolytic Anemia Due to Glutathione Synthetase Deficiency

Symptoms via clinical synopsis from OMIM:

54

Heme:
hemolytic anemia

Lab:
glutathione synthetase deficiency
glyoxalase deficiency
glutathione low


Clinical features from OMIM:

231900

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

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

Drugs & Therapeutics for Hemolytic Anemia Due to Glutathione Synthetase Deficiency

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

Genetic Tests for Hemolytic Anemia Due to Glutathione Synthetase Deficiency

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

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

Anatomical Context for Hemolytic Anemia Due to Glutathione Synthetase Deficiency

Publications for Hemolytic Anemia Due to Glutathione Synthetase Deficiency

Variations for Hemolytic Anemia Due to Glutathione Synthetase Deficiency

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

6
id 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

Expression for Hemolytic Anemia Due to Glutathione Synthetase Deficiency

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

Pathways for Hemolytic Anemia Due to Glutathione Synthetase Deficiency

GO Terms for Hemolytic Anemia Due to Glutathione Synthetase Deficiency

Sources for Hemolytic Anemia Due to Glutathione Synthetase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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