GSSD
MCID: GLT007
MIFTS: 45

Glutathione Synthetase Deficiency (GSSD)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glutathione Synthetase Deficiency

MalaCards integrated aliases for Glutathione Synthetase Deficiency:

Name: Glutathione Synthetase Deficiency 58 77 54 26 60 76 38 13 56
Pyroglutamic Aciduria 58 54 26 76
5-Oxoprolinuria 58 54 26 76
Pyroglutamicaciduria 54 60
Glutathione Synthetase Deficiency with 5-Oxoprolinuria 60
Deficiency of Glutathione Synthetase 26
Deficiency of Glutathione Synthase 26
Gluthathione Synthetase Deficiency 74
5-Oxoprolinase Deficiency 74
Oxoprolinase Deficiency 54
Glutathione Synthetase 13
Pyroglutamic Acidemia 26
5-Oxoprolinemia 26
Gss Deficiency 76
Gssd 58

Characteristics:

Orphanet epidemiological data:

60
glutathione synthetase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
glutathione synthetase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 266130
KEGG 38 H02312
MESH via Orphanet 46 C536835
ICD10 via Orphanet 35 D55.1
UMLS via Orphanet 75 C0398746 C1291643
MedGen 43 C0398746

Summaries for Glutathione Synthetase Deficiency

NIH Rare Diseases : 54 Glutathione synthetase deficiency is a genetic metabolic disorder that affects the body�??s ability to produce an important substance called glutathione. People with glutathione synthetase deficiency do not have enough of the molecule called glutathione synthetase, which helps the body produce glutathione. People with glutathione synthetase deficiency can have mild, moderate, or severe disease. The signs and symptoms of the deficiency may include anemia, the buildup of too much acid in the body (metabolic acidosis), frequent infections, and symptoms caused by problems in the brain including seizures, intellectual disability, and loss of coordination (ataxia).   Glutathione synthetase deficiency is caused by genetic changes (pathogenic variants or mutations) in the GSS gene. The deficiency is inherited in an autosomal recessive manner. Diagnosis of a metabolic disorder such as glutathione synthetase deficiency may be suspected when a doctor observes signs of the deficiency including metabolic acidosis. A doctor may order tests to confirm the diagnosis including enzyme assays, urine analysis, and genetic testing. Treatment for glutathione synthetase deficiency may include sodium bicarbonate to treat metabolic acidosis and taking vitamin supplements.

MalaCards based summary : Glutathione Synthetase Deficiency, also known as pyroglutamic aciduria, is related to hemolytic anemia and glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to, and has symptoms including vomiting, abdominal pain and diarrhea. An important gene associated with Glutathione Synthetase Deficiency is GSS (Glutathione Synthetase), and among its related pathways/superpathways are Glutathione metabolism and Ferroptosis. Affiliated tissues include testes, brain and liver, and related phenotypes are hemolytic anemia and abnormality of immune system physiology

Genetics Home Reference : 26 Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components.

OMIM : 58 Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001). (266130)

UniProtKB/Swiss-Prot : 76 Glutathione synthetase deficiency: Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system.

Wikipedia : 77 Glutathione synthetase deficiency (GSD) is a rare autosomal recessivemetabolic disorder that prevents... more...

Related Diseases for Glutathione Synthetase Deficiency

Graphical network of the top 20 diseases related to Glutathione Synthetase Deficiency:



Diseases related to Glutathione Synthetase Deficiency

Symptoms & Phenotypes for Glutathione Synthetase Deficiency

Human phenotypes related to Glutathione Synthetase Deficiency:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hemolytic anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001878
2 abnormality of immune system physiology 60 33 hallmark (90%) Very frequent (99-80%) HP:0010978
3 abnormality of the nervous system 60 33 hallmark (90%) Very frequent (99-80%) HP:0000707
4 chronic metabolic acidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001996
5 reduced glutathione synthetase activity 33 hallmark (90%) HP:0003343
6 intellectual disability 33 HP:0001249
7 seizures 33 HP:0001250
8 ataxia 33 HP:0001251
9 dysarthria 33 HP:0001260
10 intention tremor 33 HP:0002080
11 neutropenia 33 HP:0001875
12 spastic tetraparesis 33 HP:0001285
13 glutathione synthetase deficiency 60 Very frequent (99-80%)
14 pigmentary retinopathy 33 HP:0000580
15 psychotic mentation 33 HP:0001345
16 increased level of l-pyroglutamic acid in urine 33 HP:0410132

Symptoms via clinical synopsis from OMIM:

58
Neuro:
seizures
ataxia
dysarthria
intention tremor
spastic tetraparesis
more
Lab:
glutathione synthetase deficiency
pyroglutamic acidemia
pyroglutamic aciduria
decreased erythrocyte glutathione
increased gamma-glutamyl-cysteine synthetase
more
Heme:
increased hemolysis
mild hemolytic anemia
episodic neutropenia

Metabolic:
chronic metabolic acidosis

Eyes:
peripheral retinal pigmentation abnormalities

Clinical features from OMIM:

266130

UMLS symptoms related to Glutathione Synthetase Deficiency:


vomiting, abdominal pain, diarrhea

Drugs & Therapeutics for Glutathione Synthetase Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Review of French Cases of Glutathione Synthetase Deficiency Unknown status NCT02830867

Search NIH Clinical Center for Glutathione Synthetase Deficiency

Genetic Tests for Glutathione Synthetase Deficiency

Anatomical Context for Glutathione Synthetase Deficiency

MalaCards organs/tissues related to Glutathione Synthetase Deficiency:

42
Testes, Brain, Liver, Neutrophil

Publications for Glutathione Synthetase Deficiency

Articles related to Glutathione Synthetase Deficiency:

(show top 50) (show all 72)
# Title Authors Year
1
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency. ( 28267090 )
2018
2
A case of severe glutathione synthetase deficiency with novel GSS mutations. ( 29340523 )
2018
3
Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy. ( 29395598 )
2018
4
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency. ( 26669244 )
2016
5
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency. ( 26984560 )
2016
6
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. ( 27581854 )
2016
7
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. ( 27477828 )
2016
8
Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency. ( 25166299 )
2015
9
Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency. ( 25727596 )
2015
10
Pyroglutamic aciduria: a cause of high anion-gap metabolic acidosis associated with common drugs. ( 22256446 )
2011
11
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study. ( 19111905 )
2009
12
Diagnosis of glutathione synthetase deficiency in newborn screening. ( 19728142 )
2009
13
High anion gap metabolic acidosis secondary to pyroglutamic aciduria (5-oxoprolinuria): association with prescription drugs and malnutrition. ( 17594793 )
2007
14
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. ( 15717202 )
2005
15
Glutathione synthetase deficiency. ( 15990954 )
2005
16
Oxidative DNA damage in cultured fibroblasts from patients with hereditary glutathione synthetase deficiency. ( 16036337 )
2005
17
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency. ( 16435214 )
2005
18
Acetaminophen-induced anion gap metabolic acidosis and 5-oxoprolinuria (pyroglutamic aciduria) acquired in hospital. ( 15983968 )
2005
19
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes. ( 15056072 )
2004
20
A newborn infant with generalized glutathione synthetase deficiency. ( 15074378 )
2004
21
Glutathione synthetase deficiency associated with antenatal cerebral bleeding. ( 15243982 )
2004
22
Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased levels of leukotriene C4 in a patient with glutathione synthetase deficiency. ( 15243994 )
2004
23
S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency. ( 15617191 )
2004
24
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene. ( 14635114 )
2003
25
Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione? ( 12638941 )
2002
26
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies. ( 11167850 )
2001
27
Long-term clinical outcome in patients with glutathione synthetase deficiency. ( 11445798 )
2001
28
Kinetic properties of missense mutations in patients with glutathione synthetase deficiency. ( 10861239 )
2000
29
Pyroglutamic aciduria and nephropathic cystinosis. ( 10384373 )
1999
30
Molecular basis of glutathione synthetase deficiency and a rare gene permutation event. ( 10369661 )
1999
31
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency. ( 10450861 )
1999
32
Generalized glutathione synthetase deficiency and pregnancy. ( 10472538 )
1999
33
Transient 5-oxoprolinuria (pyroglutamic aciduria) with systemic acidosis in an adult receiving antibiotic therapy. ( 9474033 )
1998
34
[Biochemical and molecular bases of glutathione synthetase deficiency]. ( 9590072 )
1998
35
Effect of decreased glutathione levels in hereditary glutathione synthetase deficiency on dibromoethane-induced genotoxicity in human fibroblasts. ( 9093395 )
1997
36
[Glutathione synthetase deficiency]. ( 8847804 )
1996
37
Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency. ( 7623442 )
1995
38
High-dose vitamin E therapy in glutathione synthetase deficiency. ( 7707700 )
1994
39
Glutathione synthetase deficiency: a family report. ( 8158601 )
1994
40
Impaired synthesis of lipoxygenase products in glutathione synthetase deficiency. ( 8190517 )
1994
41
Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency. ( 8301428 )
1994
42
Deficient synthesis of cysteinyl leukotrienes in glutathione synthetase deficiency. ( 8088946 )
1993
43
Prenatal analysis in two suspected cases of glutathione synthetase deficiency. ( 8295398 )
1993
44
5-Oxoprolinuria due to glutathione synthetase deficiency. ( 1293394 )
1992
45
5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome. ( 1770788 )
1991
46
Atypical pyroglutamic aciduria: possible role of paracetamol. ( 2246862 )
1990
47
Association between paracetamol and pyroglutamic aciduria. ( 2297927 )
1990
48
A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria). ( 2502672 )
1989
49
Urinary excretion of 5-oxoproline (pyroglutamic aciduria) as an index of glycine insufficiency in normal man. ( 3676243 )
1987
50
Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency. ( 3944259 )
1986

Variations for Glutathione Synthetase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Glutathione Synthetase Deficiency:

76 (show all 14)
# Symbol AA change Variation ID SNP ID
1 GSS p.Ala26Asp VAR_003602 rs759253242
2 GSS p.Leu188Pro VAR_003603
3 GSS p.Asp219Ala VAR_003604 rs28938472
4 GSS p.Asp219Gly VAR_003605 rs28938472
5 GSS p.Leu254Arg VAR_003606
6 GSS p.Arg267Trp VAR_003607 rs121909308
7 GSS p.Tyr270Cys VAR_003608 rs132598656
8 GSS p.Tyr270His VAR_003609
9 GSS p.Arg283Cys VAR_003610 rs121909309
10 GSS p.Leu286Gln VAR_003611 rs129600009
11 GSS p.Arg330Cys VAR_003612 rs148640446
12 GSS p.Gly464Val VAR_003613
13 GSS p.Asp469Glu VAR_003614 rs141970442
14 GSS p.Leu301Pro VAR_078567

ClinVar genetic disease variations for Glutathione Synthetase Deficiency:

6 (show top 50) (show all 59)
# Gene Variation Type Significance SNP ID Assembly Location
1 GSS NM_000178.4(GSS): c.491G> A (p.Arg164Gln) single nucleotide variant Pathogenic rs121909307 GRCh37 Chromosome 20, 33530291: 33530291
2 GSS NM_000178.4(GSS): c.491G> A (p.Arg164Gln) single nucleotide variant Pathogenic rs121909307 GRCh38 Chromosome 20, 34942488: 34942488
3 GSS GSS, 1-BP DEL, NT3/4G deletion Pathogenic
4 GSS NM_000178.4(GSS): c.799C> T (p.Arg267Trp) single nucleotide variant Pathogenic rs121909308 GRCh37 Chromosome 20, 33523414: 33523414
5 GSS NM_000178.4(GSS): c.799C> T (p.Arg267Trp) single nucleotide variant Pathogenic rs121909308 GRCh38 Chromosome 20, 34935611: 34935611
6 GSS NM_000178.4(GSS): c.847C> T (p.Arg283Cys) single nucleotide variant Pathogenic rs121909309 GRCh37 Chromosome 20, 33519924: 33519924
7 GSS NM_000178.4(GSS): c.847C> T (p.Arg283Cys) single nucleotide variant Pathogenic rs121909309 GRCh38 Chromosome 20, 34932121: 34932121
8 GSS NM_000178.4(GSS): c.373C> T (p.Arg125Cys) single nucleotide variant Pathogenic rs28936396 GRCh37 Chromosome 20, 33530409: 33530409
9 GSS NM_000178.4(GSS): c.373C> T (p.Arg125Cys) single nucleotide variant Pathogenic rs28936396 GRCh38 Chromosome 20, 34942606: 34942606
10 GSS NM_000178.4(GSS): c.941C> T (p.Pro314Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs75863437 GRCh37 Chromosome 20, 33519830: 33519830
11 GSS NM_000178.4(GSS): c.941C> T (p.Pro314Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs75863437 GRCh38 Chromosome 20, 34932027: 34932027
12 GSS NM_000178.4(GSS): c.1260C> G (p.Val420=) single nucleotide variant Uncertain significance rs369657861 GRCh38 Chromosome 20, 34929442: 34929442
13 GSS NM_000178.4(GSS): c.1260C> G (p.Val420=) single nucleotide variant Uncertain significance rs369657861 GRCh37 Chromosome 20, 33517245: 33517245
14 GSS NM_000178.4(GSS): c.1253G> A (p.Arg418Gln) single nucleotide variant Uncertain significance rs150141794 GRCh38 Chromosome 20, 34929449: 34929449
15 GSS NM_000178.4(GSS): c.1253G> A (p.Arg418Gln) single nucleotide variant Uncertain significance rs150141794 GRCh37 Chromosome 20, 33517252: 33517252
16 GSS NM_000178.4(GSS): c.1158G> A (p.Leu386=) single nucleotide variant Uncertain significance rs141866304 GRCh37 Chromosome 20, 33517347: 33517347
17 GSS NM_000178.4(GSS): c.1158G> A (p.Leu386=) single nucleotide variant Uncertain significance rs141866304 GRCh38 Chromosome 20, 34929544: 34929544
18 GSS NM_000178.4(GSS): c.768-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs184506175 GRCh37 Chromosome 20, 33523448: 33523448
19 GSS NM_000178.4(GSS): c.768-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs184506175 GRCh38 Chromosome 20, 34935645: 34935645
20 GSS NM_000178.4(GSS): c.-16G> A single nucleotide variant Conflicting interpretations of pathogenicity rs575728230 GRCh37 Chromosome 20, 33543537: 33543537
21 GSS NM_000178.4(GSS): c.-16G> A single nucleotide variant Conflicting interpretations of pathogenicity rs575728230 GRCh38 Chromosome 20, 34955734: 34955734
22 GSS NM_000178.4(GSS): c.-18A> G single nucleotide variant Uncertain significance rs886056640 GRCh37 Chromosome 20, 33543539: 33543539
23 GSS NM_000178.4(GSS): c.-18A> G single nucleotide variant Uncertain significance rs886056640 GRCh38 Chromosome 20, 34955736: 34955736
24 GSS NM_000178.4(GSS): c.-29T> A single nucleotide variant Uncertain significance rs886056641 GRCh37 Chromosome 20, 33543550: 33543550
25 GSS NM_000178.4(GSS): c.-29T> A single nucleotide variant Uncertain significance rs886056641 GRCh38 Chromosome 20, 34955747: 34955747
26 GSS NM_000178.4(GSS): c.*391A> T single nucleotide variant Uncertain significance rs886056638 GRCh38 Chromosome 20, 34928437: 34928437
27 GSS NM_000178.4(GSS): c.*391A> T single nucleotide variant Uncertain significance rs886056638 GRCh37 Chromosome 20, 33516240: 33516240
28 GSS NM_000178.4(GSS): c.1186A> G (p.Ile396Val) single nucleotide variant Uncertain significance rs771438550 GRCh38 Chromosome 20, 34929516: 34929516
29 GSS NM_000178.4(GSS): c.1186A> G (p.Ile396Val) single nucleotide variant Uncertain significance rs771438550 GRCh37 Chromosome 20, 33517319: 33517319
30 GSS NM_000178.4(GSS): c.*90A> G single nucleotide variant Uncertain significance rs35747685 GRCh38 Chromosome 20, 34928738: 34928738
31 GSS NM_000178.4(GSS): c.*90A> G single nucleotide variant Uncertain significance rs35747685 GRCh37 Chromosome 20, 33516541: 33516541
32 GSS NM_000178.4(GSS): c.*69G> T single nucleotide variant Uncertain significance rs200882573 GRCh38 Chromosome 20, 34928759: 34928759
33 GSS NM_000178.4(GSS): c.*69G> T single nucleotide variant Uncertain significance rs200882573 GRCh37 Chromosome 20, 33516562: 33516562
34 GSS NM_000178.4(GSS): c.957G> A (p.Met319Ile) single nucleotide variant Uncertain significance rs202181009 GRCh37 Chromosome 20, 33519814: 33519814
35 GSS NM_000178.4(GSS): c.957G> A (p.Met319Ile) single nucleotide variant Uncertain significance rs202181009 GRCh38 Chromosome 20, 34932011: 34932011
36 GSS NM_000178.4(GSS): c.448G> A (p.Ala150Thr) single nucleotide variant Uncertain significance rs549377370 GRCh37 Chromosome 20, 33530334: 33530334
37 GSS NM_000178.4(GSS): c.448G> A (p.Ala150Thr) single nucleotide variant Uncertain significance rs549377370 GRCh38 Chromosome 20, 34942531: 34942531
38 GSS NM_000178.4(GSS): c.-46A> G single nucleotide variant Conflicting interpretations of pathogenicity rs886056642 GRCh37 Chromosome 20, 33543567: 33543567
39 GSS NM_000178.4(GSS): c.-46A> G single nucleotide variant Conflicting interpretations of pathogenicity rs886056642 GRCh38 Chromosome 20, 34955764: 34955764
40 GSS NM_000178.4(GSS): c.-63G> C single nucleotide variant Uncertain significance rs192442930 GRCh37 Chromosome 20, 33543584: 33543584
41 GSS NM_000178.4(GSS): c.-63G> C single nucleotide variant Uncertain significance rs192442930 GRCh38 Chromosome 20, 34955781: 34955781
42 GSS NM_000178.4(GSS): c.-80G> C single nucleotide variant Uncertain significance rs570588543 GRCh37 Chromosome 20, 33543601: 33543601
43 GSS NM_000178.4(GSS): c.-80G> C single nucleotide variant Uncertain significance rs570588543 GRCh38 Chromosome 20, 34955798: 34955798
44 GSS NM_000178.4(GSS): c.*390G> T single nucleotide variant Uncertain significance rs886056639 GRCh38 Chromosome 20, 34928438: 34928438
45 GSS NM_000178.4(GSS): c.*390G> T single nucleotide variant Uncertain significance rs886056639 GRCh37 Chromosome 20, 33516241: 33516241
46 GSS NM_000178.4(GSS): c.*2G> A single nucleotide variant Uncertain significance rs36000727 GRCh38 Chromosome 20, 34928826: 34928826
47 GSS NM_000178.4(GSS): c.*2G> A single nucleotide variant Uncertain significance rs36000727 GRCh37 Chromosome 20, 33516629: 33516629
48 GSS NM_000178.4(GSS): c.834+4G> C single nucleotide variant Conflicting interpretations of pathogenicity rs201359061 GRCh37 Chromosome 20, 33523375: 33523375
49 GSS NM_000178.4(GSS): c.834+4G> C single nucleotide variant Conflicting interpretations of pathogenicity rs201359061 GRCh38 Chromosome 20, 34935572: 34935572
50 GSS NM_000178.4(GSS): c.*181C> T single nucleotide variant Uncertain significance rs773689812 GRCh38 Chromosome 20, 34928647: 34928647

Expression for Glutathione Synthetase Deficiency

Search GEO for disease gene expression data for Glutathione Synthetase Deficiency.

Pathways for Glutathione Synthetase Deficiency

Pathways related to Glutathione Synthetase Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 Glutathione metabolism hsa00480
2 Ferroptosis hsa04216

Pathways related to Glutathione Synthetase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 ALOX5 G6PD GGT1 GLUL GSS OPLAH
2
Show member pathways
11.65 ALOX5 GGT1
3 11.57 G6PD GGT1
4
Show member pathways
11.44 ALOX5 GGT1
5 11.28 GLUL GSS
6
Show member pathways
11.23 G6PD GGT1 GSS OPLAH
7 10.54 ALOX5 GGT1
8 9.86 ALOX5 GGT1

GO Terms for Glutathione Synthetase Deficiency

Cellular components related to Glutathione Synthetase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 8.92 G6PD GGT1 GLUL GSS

Biological processes related to Glutathione Synthetase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid metabolic process GO:0006520 9.37 GGT1 GSS
2 response to tumor necrosis factor GO:0034612 9.32 GGT1 GSS
3 glutamate metabolic process GO:0006536 9.26 GGT1 GLUL
4 leukotriene metabolic process GO:0006691 9.16 ALOX5 GGT1
5 glutathione metabolic process GO:0006749 9.13 G6PD GGT1 OPLAH
6 glutathione biosynthetic process GO:0006750 8.8 GGT1 GSS OPLAH

Molecular functions related to Glutathione Synthetase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 8.62 GLUL GSS

Sources for Glutathione Synthetase Deficiency

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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46 MESH via Orphanet
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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