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GSS DEFICIENCY
MCID: GLT007
MIFTS: 45

Glutathione Synthetase Deficiency (GSS DEFICIENCY)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Glutathione Synthetase Deficiency

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MalaCards integrated aliases for Glutathione Synthetase Deficiency:

Name: Glutathione Synthetase Deficiency 57 76 53 25 59 75 13 55
Pyroglutamic Aciduria 57 53 25 75
5-Oxoprolinuria 57 53 25 75
Pyroglutamicaciduria 53 59
Glutathione Synthetase Deficiency with 5-Oxoprolinuria 59
Deficiency of Glutathione Synthetase 25
Deficiency of Glutathione Synthase 25
Gluthathione Synthetase Deficiency 73
5-Oxoprolinase Deficiency 73
Oxoprolinase Deficiency 53
Glutathione Synthetase 13
Pyroglutamic Acidemia 25
5-Oxoprolinemia 25
Gss Deficiency 75
Gssd 57

Characteristics:

Orphanet epidemiological data:

59
glutathione synthetase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
glutathione synthetase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Cancer diseases
Anatomical: Blood diseases Neuronal diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

OMIM 57 266130
UMLS via Orphanet 74 C1291643 C0398746
MESH via Orphanet 45 C536835
ICD10 via Orphanet 34 D55.1
MedGen 42 C0398746
Sources

Summaries for Glutathione Synthetase Deficiency

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NIH Rare Diseases : 53 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 Metabolism and Arachidonic acid metabolism. Affiliated tissues include testes, brain and neutrophil, and related phenotypes are hemolytic anemia and abnormality of immune system physiology

Genetics Home Reference : 25 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 : 57 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 : 75 Glutathione synthetase deficiency: Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system.

Wikipedia : 76 Glutathione synthetase deficiency is a rare autosomal recessivemetabolic disorder that prevents the... more...

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Related Diseases for Glutathione Synthetase Deficiency

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Diseases related to Glutathione Synthetase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 hemolytic anemia 30.0 G6PD GSS
2 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to 12.8
3 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to 11.5
4 5-oxoprolinase deficiency 11.3
5 gerstmann-straussler disease 11.1
6 phenylketonuria 10.2
7 homocystinuria 10.2
8 cystinosis, nephropathic 10.1
9 propionic acidemia 10.1
10 metabolic acidosis 10.1
11 cystinosis 10.0
12 macular dystrophy, dominant cystoid 9.9
13 cone dystrophy 9.9
14 macular retinal edema 9.9
15 fundus dystrophy 9.9
16 albinism 9.9
17 tuberculous meningitis 9.9 ALOX5 GGT1
18 bilirubin metabolic disorder 9.8 G6PD GGT1

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



Diseases related to Glutathione Synthetase Deficiency
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Symptoms & Phenotypes for Glutathione Synthetase Deficiency

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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Glutathione Synthetase Deficiency:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hemolytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001878
2 abnormality of immune system physiology 59 32 hallmark (90%) Very frequent (99-80%) HP:0010978
3 abnormality of the nervous system 59 32 hallmark (90%) Very frequent (99-80%) HP:0000707
4 chronic metabolic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001996
5 glutathione synthetase deficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0003343
6 intellectual disability 32 HP:0001249
7 seizures 32 HP:0001250
8 ataxia 32 HP:0001251
9 dysarthria 32 HP:0001260
10 intention tremor 32 HP:0002080
11 neutropenia 32 HP:0001875
12 spastic tetraparesis 32 HP:0001285
13 pigmentary retinopathy 32 HP:0000580
14 psychotic mentation 32 HP:0001345
15 increased level of l-pyroglutamic acid in urine 32 HP:0410132

UMLS symptoms related to Glutathione Synthetase Deficiency:


vomiting, abdominal pain, diarrhea
Sources

Drugs & Therapeutics for Glutathione Synthetase Deficiency

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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

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Genetic Tests for Glutathione Synthetase Deficiency

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Anatomical Context for Glutathione Synthetase Deficiency

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MalaCards organs/tissues related to Glutathione Synthetase Deficiency:

41
Testes, Brain, Neutrophil, Liver
Sources

Publications for Glutathione Synthetase Deficiency

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Articles related to Glutathione Synthetase Deficiency:

(show top 50) (show all 66)
# Title Authors Year
1
Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy. ( 29395598 )
2018
2
A case of severe glutathione synthetase deficiency with novel GSS mutations. ( 29340523 )
2018
3
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency. ( 28267090 )
2017
4
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. ( 27581854 )
2016
5
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency. ( 26669244 )
2016
6
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency. ( 26984560 )
2016
7
Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency. ( 25727596 )
2015
8
Hemolytic Anemia and Metabolic Acidosis: Think about Glutathione Synthetase Deficiency. ( 25166299 )
2014
9
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study. ( 19111905 )
2009
10
Diagnosis of glutathione synthetase deficiency in newborn screening. ( 19728142 )
2009
11
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency. ( 16435214 )
2005
12
Oxidative DNA damage in cultured fibroblasts from patients with hereditary glutathione synthetase deficiency. ( 16036337 )
2005
13
Glutathione synthetase deficiency. ( 15990954 )
2005
14
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. ( 15717202 )
2005
15
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
16
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes. ( 15056072 )
2004
17
A newborn infant with generalized glutathione synthetase deficiency. ( 15074378 )
2004
18
Glutathione synthetase deficiency associated with antenatal cerebral bleeding. ( 15243982 )
2004
19
S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency. ( 15617191 )
2004
20
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene. ( 14635114 )
2003
21
Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione? ( 12638941 )
2002
22
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
23
Long-term clinical outcome in patients with glutathione synthetase deficiency. ( 11445798 )
2001
24
Kinetic properties of missense mutations in patients with glutathione synthetase deficiency. ( 10861239 )
2000
25
Generalized glutathione synthetase deficiency and pregnancy. ( 10472538 )
1999
26
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency. ( 10450861 )
1999
27
Molecular basis of glutathione synthetase deficiency and a rare gene permutation event. ( 10369661 )
1999
28
[Biochemical and molecular bases of glutathione synthetase deficiency]. ( 9590072 )
1998
29
Effect of decreased glutathione levels in hereditary glutathione synthetase deficiency on dibromoethane-induced genotoxicity in human fibroblasts. ( 9093395 )
1997
30
[Glutathione synthetase deficiency]. ( 8847804 )
1996
31
Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency. ( 7623442 )
1995
32
Impaired synthesis of lipoxygenase products in glutathione synthetase deficiency. ( 8190517 )
1994
33
Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency. ( 8301428 )
1994
34
High-dose vitamin E therapy in glutathione synthetase deficiency. ( 7707700 )
1994
35
Glutathione synthetase deficiency: a family report. ( 8158601 )
1994
36
Deficient synthesis of cysteinyl leukotrienes in glutathione synthetase deficiency. ( 8088946 )
1993
37
Prenatal analysis in two suspected cases of glutathione synthetase deficiency. ( 8295398 )
1993
38
5-Oxoprolinuria due to glutathione synthetase deficiency. ( 1293394 )
1992
39
5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome. ( 1770788 )
1991
40
Atypical pyroglutamic aciduria: possible role of paracetamol. ( 2246862 )
1990
41
Association between paracetamol and pyroglutamic aciduria. ( 2297927 )
1990
42
A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria). ( 2502672 )
1989
43
Urinary excretion of 5-oxoproline (pyroglutamic aciduria) as an index of glycine insufficiency in normal man. ( 3676243 )
1987
44
Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency. ( 3944259 )
1986
45
Acetaminophen toxicity in lymphocytes heterozygous for glutathione synthetase deficiency. ( 4041989 )
1985
46
Sulphur amino-acid degradation in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria). ( 3938407 )
1985
47
Ophthalmological, psychometric and therapeutic investigation in two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria). ( 4047346 )
1985
48
Pyroglutamic aciduria in propionyl CoA carboxylase deficiency. ( 6438400 )
1984
49
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency. ( 6882923 )
1983
50
Chronic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency or glutathione synthetase deficiency: the role of vitamin E in its treatment. ( 6959562 )
1982
Sources

Variations for Glutathione Synthetase Deficiency

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

75 (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
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
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_000178.3(GSS): c.491G> A (p.Arg164Gln) single nucleotide variant Pathogenic rs121909307 GRCh37 Chromosome 20, 33530291: 33530291
2 GSS NM_000178.3(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_000178.3(GSS): c.799C> T (p.Arg267Trp) single nucleotide variant Pathogenic rs121909308 GRCh37 Chromosome 20, 33523414: 33523414
5 GSS NM_000178.3(GSS): c.799C> T (p.Arg267Trp) single nucleotide variant Pathogenic rs121909308 GRCh38 Chromosome 20, 34935611: 34935611
6 GSS NM_000178.3(GSS): c.847C> T (p.Arg283Cys) single nucleotide variant Pathogenic rs121909309 GRCh37 Chromosome 20, 33519924: 33519924
7 GSS NM_000178.3(GSS): c.847C> T (p.Arg283Cys) single nucleotide variant Pathogenic rs121909309 GRCh38 Chromosome 20, 34932121: 34932121
8 GSS NM_000178.3(GSS): c.373C> T (p.Arg125Cys) single nucleotide variant Pathogenic rs28936396 GRCh37 Chromosome 20, 33530409: 33530409
9 GSS NM_000178.3(GSS): c.373C> T (p.Arg125Cys) single nucleotide variant Pathogenic rs28936396 GRCh38 Chromosome 20, 34942606: 34942606
10 GSS NM_000178.3(GSS): c.941C> T (p.Pro314Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs75863437 GRCh37 Chromosome 20, 33519830: 33519830
11 GSS NM_000178.3(GSS): c.941C> T (p.Pro314Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs75863437 GRCh38 Chromosome 20, 34932027: 34932027
12 GSS NM_000178.3(GSS): c.1260C> G (p.Val420=) single nucleotide variant Uncertain significance rs369657861 GRCh38 Chromosome 20, 34929442: 34929442
13 GSS NM_000178.3(GSS): c.1260C> G (p.Val420=) single nucleotide variant Uncertain significance rs369657861 GRCh37 Chromosome 20, 33517245: 33517245
14 GSS NM_000178.3(GSS): c.1253G> A (p.Arg418Gln) single nucleotide variant Uncertain significance rs150141794 GRCh38 Chromosome 20, 34929449: 34929449
15 GSS NM_000178.3(GSS): c.1253G> A (p.Arg418Gln) single nucleotide variant Uncertain significance rs150141794 GRCh37 Chromosome 20, 33517252: 33517252
16 GSS NM_000178.3(GSS): c.1158G> A (p.Leu386=) single nucleotide variant Uncertain significance rs141866304 GRCh37 Chromosome 20, 33517347: 33517347
17 GSS NM_000178.3(GSS): c.1158G> A (p.Leu386=) single nucleotide variant Uncertain significance rs141866304 GRCh38 Chromosome 20, 34929544: 34929544
18 GSS NM_000178.3(GSS): c.768-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs184506175 GRCh37 Chromosome 20, 33523448: 33523448
19 GSS NM_000178.3(GSS): c.768-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs184506175 GRCh38 Chromosome 20, 34935645: 34935645
20 GSS NM_000178.3(GSS): c.-16G> A single nucleotide variant Conflicting interpretations of pathogenicity rs575728230 GRCh37 Chromosome 20, 33543537: 33543537
21 GSS NM_000178.3(GSS): c.-16G> A single nucleotide variant Conflicting interpretations of pathogenicity rs575728230 GRCh38 Chromosome 20, 34955734: 34955734
22 GSS NM_000178.3(GSS): c.-18A> G single nucleotide variant Uncertain significance rs886056640 GRCh37 Chromosome 20, 33543539: 33543539
23 GSS NM_000178.3(GSS): c.-18A> G single nucleotide variant Uncertain significance rs886056640 GRCh38 Chromosome 20, 34955736: 34955736
24 GSS NM_000178.3(GSS): c.-29T> A single nucleotide variant Uncertain significance rs886056641 GRCh37 Chromosome 20, 33543550: 33543550
25 GSS NM_000178.3(GSS): c.-29T> A single nucleotide variant Uncertain significance rs886056641 GRCh38 Chromosome 20, 34955747: 34955747
26 GSS NM_000178.3(GSS): c.*391A> T single nucleotide variant Uncertain significance rs886056638 GRCh38 Chromosome 20, 34928437: 34928437
27 GSS NM_000178.3(GSS): c.*391A> T single nucleotide variant Uncertain significance rs886056638 GRCh37 Chromosome 20, 33516240: 33516240
28 GSS NM_000178.3(GSS): c.*90A> G single nucleotide variant Uncertain significance rs35747685 GRCh38 Chromosome 20, 34928738: 34928738
29 GSS NM_000178.3(GSS): c.*90A> G single nucleotide variant Uncertain significance rs35747685 GRCh37 Chromosome 20, 33516541: 33516541
30 GSS NM_000178.3(GSS): c.*69G> T single nucleotide variant Uncertain significance rs200882573 GRCh38 Chromosome 20, 34928759: 34928759
31 GSS NM_000178.3(GSS): c.*69G> T single nucleotide variant Uncertain significance rs200882573 GRCh37 Chromosome 20, 33516562: 33516562
32 GSS NM_000178.3(GSS): c.1186A> G (p.Ile396Val) single nucleotide variant Uncertain significance rs771438550 GRCh38 Chromosome 20, 34929516: 34929516
33 GSS NM_000178.3(GSS): c.1186A> G (p.Ile396Val) single nucleotide variant Uncertain significance rs771438550 GRCh37 Chromosome 20, 33517319: 33517319
34 GSS NM_000178.3(GSS): c.957G> A (p.Met319Ile) single nucleotide variant Uncertain significance rs202181009 GRCh37 Chromosome 20, 33519814: 33519814
35 GSS NM_000178.3(GSS): c.957G> A (p.Met319Ile) single nucleotide variant Uncertain significance rs202181009 GRCh38 Chromosome 20, 34932011: 34932011
36 GSS NM_000178.3(GSS): c.448G> A (p.Ala150Thr) single nucleotide variant Uncertain significance rs549377370 GRCh37 Chromosome 20, 33530334: 33530334
37 GSS NM_000178.3(GSS): c.448G> A (p.Ala150Thr) single nucleotide variant Uncertain significance rs549377370 GRCh38 Chromosome 20, 34942531: 34942531
38 GSS NM_000178.3(GSS): c.-46A> G single nucleotide variant Conflicting interpretations of pathogenicity rs886056642 GRCh37 Chromosome 20, 33543567: 33543567
39 GSS NM_000178.3(GSS): c.-46A> G single nucleotide variant Conflicting interpretations of pathogenicity rs886056642 GRCh38 Chromosome 20, 34955764: 34955764
40 GSS NM_000178.3(GSS): c.-63G> C single nucleotide variant Uncertain significance rs192442930 GRCh37 Chromosome 20, 33543584: 33543584
41 GSS NM_000178.3(GSS): c.-63G> C single nucleotide variant Uncertain significance rs192442930 GRCh38 Chromosome 20, 34955781: 34955781
42 GSS NM_000178.3(GSS): c.-80G> C single nucleotide variant Uncertain significance rs570588543 GRCh37 Chromosome 20, 33543601: 33543601
43 GSS NM_000178.3(GSS): c.-80G> C single nucleotide variant Uncertain significance rs570588543 GRCh38 Chromosome 20, 34955798: 34955798
44 GSS NM_000178.3(GSS): c.*390G> T single nucleotide variant Uncertain significance rs886056639 GRCh38 Chromosome 20, 34928438: 34928438
45 GSS NM_000178.3(GSS): c.*390G> T single nucleotide variant Uncertain significance rs886056639 GRCh37 Chromosome 20, 33516241: 33516241
46 GSS NM_000178.3(GSS): c.*2G> A single nucleotide variant Uncertain significance rs36000727 GRCh38 Chromosome 20, 34928826: 34928826
47 GSS NM_000178.3(GSS): c.*2G> A single nucleotide variant Uncertain significance rs36000727 GRCh37 Chromosome 20, 33516629: 33516629
48 GSS NM_000178.3(GSS): c.834+4G> C single nucleotide variant Conflicting interpretations of pathogenicity rs201359061 GRCh37 Chromosome 20, 33523375: 33523375
49 GSS NM_000178.3(GSS): c.834+4G> C single nucleotide variant Conflicting interpretations of pathogenicity rs201359061 GRCh38 Chromosome 20, 34935572: 34935572
50 GSS NM_000178.3(GSS): c.*181C> T single nucleotide variant Uncertain significance rs773689812 GRCh38 Chromosome 20, 34928647: 34928647
Sources

Expression for Glutathione Synthetase Deficiency

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

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

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.37 ALOX5 G6PD GGT1 GLUL GSS OPLAH
2
Arachidonic acid metabolism 66
Show member pathways
 11.65 ALOX5 GGT1
3
NRF2 pathway 1
11.57 G6PD GGT1
4
Linoleic acid metabolism 37
Show member pathways
 11.44 ALOX5 GGT1
5
Amino Acid metabolism 1
11.28 GLUL GSS
6
Glutathione metabolism 22 1 37
Show member pathways
 11.23 G6PD GGT1 GSS OPLAH
7
Eicosanoid Synthesis 1
10.54 ALOX5 GGT1
8
Leukotriene modifiers pathway, Pharmacodynamics 61
9.86 ALOX5 GGT1
Sources

GO Terms for Glutathione Synthetase Deficiency

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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

Sources for Glutathione Synthetase Deficiency

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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