HAGGSD
MCID: GMM011
MIFTS: 25

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to (HAGGSD)

Categories: Blood diseases, Genetic diseases, Metabolic 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 39
Hemolytic Anemia Due to Gamma-Glutamylcysteine Synthetase Deficiency 57 72 13
Glutamate-Cysteine Ligase Deficiency 58 70
Gamma-Glutamylcysteine Synthetase Deficiency 58
Haggsd 72

Characteristics:

Orphanet epidemiological data:

58
glutamate-cysteine ligase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

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


HPO:

31
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

OMIM® 57 230450
MeSH 44 D000743
ICD10 via Orphanet 33 D55.1
UMLS via Orphanet 71 C1856603
Orphanet 58 ORPHA33574
MedGen 41 C1856603
UMLS 70 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) (Updated 05-Apr-2021)

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 glutamate-cysteine ligase deficiency and 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 myopathy and hemolytic anemia

UniProtKB/Swiss-Prot : 72 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 glutamate-cysteine ligase deficiency 11.7
2 hemolytic anemia 10.3
3 autosomal recessive disease 10.2
4 spinocerebellar degeneration 10.2
5 ataxia and polyneuropathy, adult-onset 10.1
6 deficiency anemia 10.1
7 myopathy 10.1

Graphical network of the top 20 diseases related to Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to:



Diseases related to Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to

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

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

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopathy 58 31 Very frequent (99-80%) HP:0003198
2 hemolytic anemia 58 31 Obligate (100%) HP:0001878
3 intellectual disability 58 Occasional (29-5%)
4 hyperreflexia 58 Occasional (29-5%)
5 ataxia 58 Occasional (29-5%)
6 dysarthria 58 Occasional (29-5%)
7 global developmental delay 58 Occasional (29-5%)
8 aminoaciduria 58 Very frequent (99-80%)
9 jaundice 58 Occasional (29-5%)
10 peripheral neuropathy 58 Very frequent (99-80%)
11 dyslexia 58 Occasional (29-5%)
12 psychosis 58 Occasional (29-5%)
13 abnormality of metabolism/homeostasis 31 HP:0001939
14 reticulocytosis 58 Occasional (29-5%)
15 polyneuropathy 31 HP:0001271
16 hepatosplenomegaly 58 Occasional (29-5%)
17 spinocerebellar tract degeneration 58 Very frequent (99-80%)
18 late-onset spinocerebellar degeneration 31 HP:0006904

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
myopathy

Neurologic Peripheral Nervous System:
peripheral neuropathy

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

Hematology:
hemolytic anemia

Neurologic Central Nervous System:
late-onset spinocerebellar degeneration

Clinical features from OMIM®:

230450 (Updated 05-Apr-2021)

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 PMID Year
1
The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. 57 6
10515893 1999
2
Knockout of the mouse glutamate cysteine ligase catalytic subunit (Gclc) gene: embryonic lethal when homozygous, and proposed model for moderate glutathione deficiency when heterozygous. 57
11118286 2000
3
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency. 57
8634459 1996
4
Gamma-glutamylcysteine synthetase deficiency and hemolytic anemia. 57
2294991 1990
5
Familial spinocerebellar degeneration, hemolytic anemia, and glutathione deficiency. 57
4852017 1974
6
The gamma-glutamyl cycle. Diseases associated with specific enzyme deficiencies. 57
4152527 1974
7
-Glutamyl-cysteine synthetase deficiency. A cause of hereditary hemolytic anemia. 57
5058793 1972
8
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias. 61
31040790 2019
9
Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia. 61
28571779 2017
10
Enzymatic defects underlying hereditary glutamate cysteine ligase deficiency are mitigated by association of the catalytic and regulatory subunits. 61
21657237 2011

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GCLC NM_001498.4(GCLC):c.1109A>T (p.His370Leu) SNV Pathogenic 3958 rs121907946 GRCh37: 6:53371799-53371799
GRCh38: 6:53507001-53507001
2 GCLC NM_001498.4(GCLC):c.482A>G (p.Lys161Arg) SNV Uncertain significance 930219 GRCh37: 6:53380985-53380985
GRCh38: 6:53516187-53516187

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

72
# 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

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 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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