MCID: GLT040
MIFTS: 29

Glutamate-Cysteine Ligase Deficiency

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Glutamate-Cysteine Ligase Deficiency

MalaCards integrated aliases for Glutamate-Cysteine Ligase Deficiency:

Name: Glutamate-Cysteine Ligase Deficiency 12 15
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 43
Hemolytic Anemia Due to Gamma-Glutamylcysteine Synthetase Deficiency 12
Gamma-Glutamylcysteine Synthetase Deficiency 12

Classifications:



Summaries for Glutamate-Cysteine Ligase Deficiency

Disease Ontology : 12 An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in GCLC on chromosome 6p12.1.

MalaCards based summary : Glutamate-Cysteine Ligase Deficiency, also known as gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to, is related to hemolytic anemia and gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to. An important gene associated with Glutamate-Cysteine Ligase Deficiency is GCLC (Glutamate-Cysteine Ligase Catalytic Subunit), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and L1CAM interactions. Related phenotypes are hemolytic anemia and myopathy

Wikipedia : 74 Glutamate Cysteine Ligase (GCL) (EC 6.3.2.2), previously known as gamma-glutamylcysteine synthetase... more...

Related Diseases for Glutamate-Cysteine Ligase Deficiency

Graphical network of the top 20 diseases related to Glutamate-Cysteine Ligase Deficiency:



Diseases related to Glutamate-Cysteine Ligase Deficiency

Symptoms & Phenotypes for Glutamate-Cysteine Ligase Deficiency

Human phenotypes related to Glutamate-Cysteine Ligase Deficiency:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 31 obligate (100%) HP:0001878
2 myopathy 31 hallmark (90%) HP:0003198
3 aminoaciduria 31 hallmark (90%) HP:0003355
4 peripheral neuropathy 31 hallmark (90%) HP:0009830
5 spinocerebellar tract degeneration 31 hallmark (90%) HP:0002503
6 intellectual disability 31 occasional (7.5%) HP:0001249
7 global developmental delay 31 occasional (7.5%) HP:0001263
8 ataxia 31 occasional (7.5%) HP:0001251
9 hyperreflexia 31 occasional (7.5%) HP:0001347
10 jaundice 31 occasional (7.5%) HP:0000952
11 dysarthria 31 occasional (7.5%) HP:0001260
12 dyslexia 31 occasional (7.5%) HP:0010522
13 psychosis 31 occasional (7.5%) HP:0000709
14 reticulocytosis 31 occasional (7.5%) HP:0001923
15 hepatosplenomegaly 31 occasional (7.5%) HP:0001433

MGI Mouse Phenotypes related to Glutamate-Cysteine Ligase Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.88 ANK1 GCLC PIEZO1 SLC4A1 SPTA1 SPTB
2 cardiovascular system MP:0005385 9.83 ANK1 PIEZO1 SLC4A1 SPTA1 SPTB
3 homeostasis/metabolism MP:0005376 9.8 ANK1 GCLC PIEZO1 SLC4A1 SPTA1 SPTB
4 hematopoietic system MP:0005397 9.77 ANK1 PIEZO1 SLC4A1 SPTA1 SPTB
5 immune system MP:0005387 9.65 ANK1 PIEZO1 SLC4A1 SPTA1 SPTB
6 liver/biliary system MP:0005370 9.46 ANK1 GCLC SPTA1 SPTB
7 mortality/aging MP:0010768 9.43 ANK1 GCLC PIEZO1 SLC4A1 SPTA1 SPTB
8 renal/urinary system MP:0005367 9.02 ANK1 PIEZO1 SLC4A1 SPTA1 SPTB

Drugs & Therapeutics for Glutamate-Cysteine Ligase Deficiency

Search Clinical Trials , NIH Clinical Center for Glutamate-Cysteine Ligase Deficiency

Cochrane evidence based reviews: gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to

Genetic Tests for Glutamate-Cysteine Ligase Deficiency

Anatomical Context for Glutamate-Cysteine Ligase Deficiency

Publications for Glutamate-Cysteine Ligase Deficiency

Articles related to Glutamate-Cysteine Ligase Deficiency:

# Title Authors PMID Year
1
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias. 61
31040790 2019
2
Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia. 61
28571779 2017
3
Enzymatic defects underlying hereditary glutamate cysteine ligase deficiency are mitigated by association of the catalytic and regulatory subunits. 61
21657237 2011

Variations for Glutamate-Cysteine Ligase Deficiency

Expression for Glutamate-Cysteine Ligase Deficiency

Search GEO for disease gene expression data for Glutamate-Cysteine Ligase Deficiency.

Pathways for Glutamate-Cysteine Ligase Deficiency

GO Terms for Glutamate-Cysteine Ligase Deficiency

Cellular components related to Glutamate-Cysteine Ligase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.37 SLC4A1 ANK1
2 cortical cytoskeleton GO:0030863 9.32 SPTA1 SLC4A1
3 spectrin GO:0008091 9.26 SPTB SPTA1
4 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.16 SPTB SPTA1
5 cytoplasmic side of plasma membrane GO:0009898 9.13 SPTA1 SLC4A1 ANK1
6 spectrin-associated cytoskeleton GO:0014731 8.8 SPTB SPTA1 ANK1

Biological processes related to Glutamate-Cysteine Ligase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein localization to plasma membrane GO:0072659 9.26 SLC4A1 ANK1
2 cellular response to mechanical stimulus GO:0071260 9.16 PIEZO1 GCLC
3 ER to Golgi vesicle-mediated transport GO:0006888 9.13 SPTB SPTA1 ANK1
4 actin filament capping GO:0051693 8.62 SPTB SPTA1

Molecular functions related to Glutamate-Cysteine Ligase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ankyrin binding GO:0030506 8.96 SPTB SLC4A1
2 structural constituent of cytoskeleton GO:0005200 8.8 SPTB SPTA1 ANK1

Sources for Glutamate-Cysteine Ligase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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