MCID: GMM011
MIFTS: 21

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to

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

Aliases & Classifications for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia...

MalaCards integrated aliases for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to:

Name: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 57 29 6 40
Hemolytic Anemia Due to Gamma-Glutamylcysteine Synthetase Deficiency 57 75 13
Glutamate-Cysteine Ligase Deficiency 59 73
Gamma-Glutamylcysteine Synthetase Deficiency 59
Haggsd 75

Characteristics:

Orphanet epidemiological data:

59
glutamate-cysteine ligase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 230450
Orphanet 59 ORPHA33574
UMLS via Orphanet 74 C1856603
ICD10 via Orphanet 34 D55.1
MedGen 42 C1856603
MeSH 44 D000743
UMLS 73 C0268523

Summaries for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia...

OMIM : 57 Gamma-glutamylcysteine synthetase deficiency is 1 of 4 diseases involving enzymes in the gamma-glutamyl cycle (Meister, 1974). The other 3 disorders are glutathione synthetase deficiency (231900), 5-oxoprolinuria, which is a severe or generalized form of glutathione synthetase deficiency (266130), and gamma-glutamyl transpeptidase deficiency (231950). All except gamma-glutamyl transpeptidase deficiency are accompanied by hemolytic anemia (Larsson and Anderson, 2001). (230450)

MalaCards based summary : Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to, also known as hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, is related to hemolytic anemia. An important gene associated with Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to is GCLC (Glutamate-Cysteine Ligase Catalytic Subunit). Related phenotypes are anemia and polyneuropathy

UniProtKB/Swiss-Prot : 75 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency: A disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy.

Related Diseases for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia...

Diseases related to Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hemolytic anemia 10.2

Symptoms & Phenotypes for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia...

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
myopathy

Neurologic Peripheral Nervous System:
peripheral neuropathy

Laboratory Abnormalities:
glutathione deficiency
gamma-glutamylcysteine deficiency
gamma-glutamylcysteine synthetase (glutamate-cysteine ligase) deficiency

Neurologic Central Nervous System:
late-onset spinocerebellar degeneration

Hematology:
hemolytic anemia


Clinical features from OMIM:

230450

Human phenotypes related to Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
2 polyneuropathy 32 HP:0001271
3 hemolytic anemia 32 HP:0001878
4 abnormality of metabolism/homeostasis 32 HP:0001939
5 myopathy 32 HP:0003198
6 late-onset spinocerebellar degeneration 32 HP:0006904

Drugs & Therapeutics for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia...

Search Clinical Trials , NIH Clinical Center for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to

Genetic Tests for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia...

Genetic tests related to Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to:

# Genetic test Affiliating Genes
1 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 29 GCLC

Anatomical Context for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia...

Publications for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia...

Articles related to Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to:

# Title Authors Year
1
Enzymatic defects underlying hereditary glutamate cysteine ligase deficiency are mitigated by association of the catalytic and regulatory subunits. ( 21657237 )
2011

Variations for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia...

UniProtKB/Swiss-Prot genetic disease variations for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to:

75
# Symbol AA change Variation ID SNP ID
1 GCLC p.His370Leu VAR_013514 rs121907946
2 GCLC p.Pro158Leu VAR_015403
3 GCLC p.Arg127Cys VAR_021110 rs760031222

ClinVar genetic disease variations for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GCLC NM_001498.3(GCLC): c.1109A> T (p.His370Leu) single nucleotide variant Pathogenic rs121907946 GRCh37 Chromosome 6, 53371799: 53371799
2 GCLC NM_001498.3(GCLC): c.1109A> T (p.His370Leu) single nucleotide variant Pathogenic rs121907946 GRCh38 Chromosome 6, 53507001: 53507001

Expression for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia...

Search GEO for disease gene expression data for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to.

Pathways for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia...

GO Terms for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia...

Sources for Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia...

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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