GSSD
MCID: GLT007
MIFTS: 47

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 56 74 52 25 58 73 36 13 54
Pyroglutamic Aciduria 56 52 25 73
5-Oxoprolinuria 56 52 25 73
Pyroglutamicaciduria 52 58
Glutathione Synthetase Deficiency with 5-Oxoprolinuria 58
Deficiency of Glutathione Synthetase 25
Deficiency of Glutathione Synthase 25
Gluthathione Synthetase Deficiency 71
5-Oxoprolinase Deficiency 71
Oxoprolinase Deficiency 52
Pyroglutamic Acidemia 25
5-Oxoprolinemia 25
Gss Deficiency 73
Gssd 56

Characteristics:

Orphanet epidemiological data:

58
glutathione synthetase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
glutathione synthetase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

OMIM 56 266130
KEGG 36 H02312
MESH via Orphanet 44 C536835
ICD10 via Orphanet 33 D55.1
UMLS via Orphanet 72 C0398746 C1291643
MedGen 41 C0398746
UMLS 71 C0268525 C0398746

Summaries for Glutathione Synthetase Deficiency

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. Glutathione synthetase deficiency can be classified into three types: mild, moderate, and severe. Mild glutathione synthetase deficiency usually results in the destruction of red blood cells (hemolytic anemia). In addition, affected individuals may release large amounts of a compound called 5-oxoproline in their urine (5-oxoprolinuria). This compound builds up when glutathione is not processed correctly in cells. Individuals with moderate glutathione synthetase deficiency may experience symptoms beginning shortly after birth including hemolytic anemia, 5-oxoprolinuria, and elevated acidity in the blood and tissues (metabolic acidosis). In addition to the features present in moderate glutathione synthetase deficiency, individuals affected by the severe form of this disorder may experience neurological symptoms. These problems may include seizures; a generalized slowing down of physical reactions, movements, and speech (psychomotor retardation); intellectual disability; and a loss of coordination (ataxia). Some people with severe glutathione synthetase deficiency also develop recurrent bacterial infections.

MalaCards based summary : Glutathione Synthetase Deficiency, also known as pyroglutamic aciduria, is related to metabolic acidosis and hemolytic anemia, 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 brain, testes and neutrophil, and related phenotypes are hemolytic anemia and abnormality of immune system physiology

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Glutathione synthetase deficiency is a rare autosomal recessive disorder. The clinical phenotype varies widely, and nearly 30 different mutations in the GSS gene have been identified. In severe form, it is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, haemolytic anaemia and central nervous system damage. A milder form, which is only associated with haemolytic anaemia, has also been reported.

UniProtKB/Swiss-Prot : 73 Glutathione synthetase deficiency: Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system.

Wikipedia : 74 Glutathione synthetase deficiency (GSD) is a rare autosomal recessive metabolic disorder that prevents... more...

Related Diseases for Glutathione Synthetase Deficiency

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 metabolic acidosis 30.4 OPLAH GSS
2 hemolytic anemia 29.7 OPLAH GSS G6PD
3 bilirubin metabolic disorder 29.6 GGT1 G6PD
4 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to 13.1
5 5-oxoprolinase deficiency 11.8
6 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to 11.6
7 gerstmann-straussler disease 11.3
8 autosomal recessive disease 10.3
9 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.2
10 deficiency anemia 10.2
11 ataxia and polyneuropathy, adult-onset 10.2
12 bacterial infectious disease 10.2
13 phenylketonuria 10.2
14 diabetes mellitus, ketosis-prone 10.2
15 hemolytic-uremic syndrome 10.2
16 uremia 10.2
17 macular retinal edema 10.1
18 fundus dystrophy 10.1
19 encephalopathy 10.1
20 inherited retinal disorder 10.1
21 nephrolithiasis, calcium oxalate 10.0
22 enterocolitis 10.0
23 severe cutaneous adverse reaction 10.0
24 erythema multiforme 10.0
25 urolithiasis 10.0
26 cystinosis 10.0
27 diarrhea 10.0
28 toxic shock syndrome 10.0
29 renal tubular acidosis 10.0
30 gm2 gangliosidosis 10.0
31 lactic acidosis 10.0
32 hyperglycemia 10.0
33 nephrolithiasis 10.0
34 homocystinuria 10.0
35 gangliosidosis 10.0
36 hypersomnia 10.0
37 tremor 10.0
38 erythema multiforme major 10.0
39 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.0
40 retinitis pigmentosa 9.9
41 alacrima, achalasia, and mental retardation syndrome 9.9
42 joint laxity, short stature, and myopia 9.9
43 cone dystrophy 9.9
44 myopia 9.9
45 neutropenia 9.9
46 gastroenteritis 9.9
47 chronic granulomatous disease 9.9
48 congenital hemolytic anemia 9.9
49 inherited metabolic disorder 9.9
50 albinism 9.9

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:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hemolytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001878
2 abnormality of immune system physiology 58 31 hallmark (90%) Very frequent (99-80%) HP:0010978
3 abnormality of the nervous system 58 31 hallmark (90%) Very frequent (99-80%) HP:0000707
4 chronic metabolic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001996
5 reduced glutathione synthetase level 31 hallmark (90%) HP:0003343
6 intellectual disability 31 HP:0001249
7 ataxia 31 HP:0001251
8 dysarthria 31 HP:0001260
9 neutropenia 31 HP:0001875
10 spastic tetraparesis 31 HP:0001285
11 pigmentary retinopathy 31 HP:0000580
12 glutathione synthetase deficiency 58 Very frequent (99-80%)
13 intention tremor 31 HP:0002080
14 psychotic mentation 31 HP:0001345
15 seizure 31 HP:0001250
16 increased level of l-pyroglutamic acid in urine 31 HP:0410132

Symptoms via clinical synopsis from OMIM:

56
Neuro:
seizures
ataxia
dysarthria
spastic tetraparesis
intention tremor
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:

40
Brain, Testes, Neutrophil, Cortex, Cerebellum, Liver, Monocytes

Publications for Glutathione Synthetase Deficiency

Articles related to Glutathione Synthetase Deficiency:

(show top 50) (show all 114)
# Title Authors PMID Year
1
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. 61 56 6
8896573 1996
2
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. 54 56 61
15717202 2005
3
Long-term clinical outcome in patients with glutathione synthetase deficiency. 61 54 56
11445798 2001
4
Prenatal analysis in two suspected cases of glutathione synthetase deficiency. 61 54 56
8295398 1993
5
5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome. 56 54 61
1770788 1991
6
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies. 61 6
11167850 2001
7
A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria). 61 56
2502672 1989
8
Protection of granulocytes by vitamin E in glutathione synthetase deficiency. 61 56
481537 1979
9
Oxidative damage to neutrophils in glutathione synthetase deficiency. 61 56
465367 1979
10
[A family with pyroglutamic aciduria (author's transl)]. 61 56
657978 1978
11
Pyroglutamic aciduria (5-oxoprolinuria), an inborn error in glutathione metabolism. 56 61
4415411 1974
12
Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria). 56 61
4152248 1974
13
Pyroglutamic aciduria--a new inborn error of metabolism. 61 56
5486400 1970
14
Glutathione synthetase deficiency as a cause of hereditary hemolytic disease. 61 6
5476481 1970
15
Prenatal diagnosis of glutathione synthase deficiency. 56
7937585 1994
16
5-Oxoprolinuria in an adolescent with chronic metabolic acidosis, mental retardation, and psychosis. 56
1986110 1991
17
5-oxoprolinuria: biochemical observations and case report. 56
874680 1977
18
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study. 61 54
19111905 2009
19
Inborn errors in the metabolism of glutathione. 61 54
17397529 2007
20
Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency. 61 54
17206463 2007
21
Glutathione synthetase deficiency. 61 54
15990954 2005
22
Physiological and pathological aspects of GSH metabolism. 61 54
15981742 2005
23
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency. 61 54
16435214 2005
24
[Gluthathion synthetase deficit in a newborn infant]. 54 61
15519833 2004
25
S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency. 54 61
15617191 2004
26
Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased levels of leukotriene C4 in a patient with glutathione synthetase deficiency. 61 54
15243994 2004
27
Glutathione synthetase deficiency associated with antenatal cerebral bleeding. 61 54
15243982 2004
28
A newborn infant with generalized glutathione synthetase deficiency. 54 61
15074378 2004
29
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene. 61 54
14635114 2003
30
Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione? 61 54
12638941 2002
31
Kinetic properties of missense mutations in patients with glutathione synthetase deficiency. 54 61
10861239 2000
32
Analysis of leukotrienes in cerebrospinal fluid of a reference population and patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC(4)-synthesis deficiency. 61 54
10686285 2000
33
Generalized glutathione synthetase deficiency and pregnancy. 61 54
10472538 1999
34
Molecular basis of glutathione synthetase deficiency and a rare gene permutation event. 61 54
10369661 1999
35
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency. 61 54
10450861 1999
36
5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle. 61 54
10094443 1999
37
Patients with genetic defects in the gamma-glutamyl cycle. 61 54
9679548 1998
38
[Biochemical and molecular bases of glutathione synthetase deficiency]. 61 54
9590072 1998
39
Effect of decreased glutathione levels in hereditary glutathione synthetase deficiency on dibromoethane-induced genotoxicity in human fibroblasts. 61 54
9093395 1997
40
[Glutathione synthetase deficiency]. 61 54
8847804 1996
41
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency. 61 54
8634459 1996
42
The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2. 61 54
8825653 1995
43
Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency. 54 61
7623442 1995
44
Glutathione synthetase deficiency: a family report. 54 61
8158601 1994
45
Impaired synthesis of lipoxygenase products in glutathione synthetase deficiency. 61 54
8190517 1994
46
High-dose vitamin E therapy in glutathione synthetase deficiency. 61 54
7707700 1994
47
Deficient synthesis of cysteinyl leukotrienes in glutathione synthetase deficiency. 61 54
8088946 1993
48
5-Oxoprolinuria due to glutathione synthetase deficiency. 54 61
1293394 1992
49
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders. 54 61
1761630 1991
50
Cholesterol synthesis in patients with glutathione deficiency. 54 61
2121508 1990

Variations for Glutathione Synthetase Deficiency

ClinVar genetic disease variations for Glutathione Synthetase Deficiency:

6 (show top 50) (show all 52) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GSS NM_000178.4(GSS):c.709C>T (p.Arg237Ter)SNV Pathogenic 840715 20:33524624-33524624 20:34936821-34936821
2 GSS NM_000178.4(GSS):c.-9+5G>ASNV Pathogenic 495702 rs1555889738 20:33543525-33543525 20:34955722-34955722
3 GSS NM_000178.4(GSS):c.491G>A (p.Arg164Gln)SNV Pathogenic 8525 rs121909307 20:33530291-33530291 20:34942488-34942488
4 GSS GSS, 1-BP DEL, NT3/4Gdeletion Pathogenic 8526
5 GSS NM_000178.4(GSS):c.799C>T (p.Arg267Trp)SNV Pathogenic 8527 rs121909308 20:33523414-33523414 20:34935611-34935611
6 GSS NM_000178.4(GSS):c.847C>T (p.Arg283Cys)SNV Pathogenic 8528 rs121909309 20:33519924-33519924 20:34932121-34932121
7 GSS NM_000178.4(GSS):c.373C>T (p.Arg125Cys)SNV Pathogenic 8529 rs28936396 20:33530409-33530409 20:34942606-34942606
8 GSS NM_000178.4(GSS):c.656A>G (p.Asp219Gly)SNV Pathogenic 8531 rs28938472 20:33524779-33524779 20:34936976-34936976
9 GSS NM_000178.4(GSS):c.1030-1G>CSNV Likely pathogenic 863066 20:33519221-33519221 20:34931418-34931418
10 GSS NM_000178.4(GSS):c.941C>T (p.Pro314Leu)SNV Conflicting interpretations of pathogenicity 8530 rs75863437 20:33519830-33519830 20:34932027-34932027
11 GSS NM_000178.4(GSS):c.816T>G (p.Pro272=)SNV Conflicting interpretations of pathogenicity 514272 rs35051256 20:33523397-33523397 20:34935594-34935594
12 GSS NM_000178.4(GSS):c.-16G>ASNV Conflicting interpretations of pathogenicity 338303 rs575728230 20:33543537-33543537 20:34955734-34955734
13 GSS NM_000178.4(GSS):c.1253G>A (p.Arg418Gln)SNV Conflicting interpretations of pathogenicity 338294 rs150141794 20:33517252-33517252 20:34929449-34929449
14 GSS NM_000178.4(GSS):c.-46A>GSNV Conflicting interpretations of pathogenicity 338306 rs886056642 20:33543567-33543567 20:34955764-34955764
15 GSS NM_000178.4(GSS):c.834+4G>CSNV Conflicting interpretations of pathogenicity 338299 rs201359061 20:33523375-33523375 20:34935572-34935572
16 GSS NM_000178.4(GSS):c.4del (p.Ala2fs)deletion Conflicting interpretations of pathogenicity 338302 rs752560204 20:33539652-33539652 20:34951849-34951849
17 GSS NM_000178.4(GSS):c.*181C>TSNV Uncertain significance 338289 rs773689812 20:33516450-33516450 20:34928647-34928647
18 GSS NM_000178.4(GSS):c.1203C>T (p.Ile401=)SNV Uncertain significance 338295 rs138574949 20:33517302-33517302 20:34929499-34929499
19 GSS NM_000178.4(GSS):c.-80G>CSNV Uncertain significance 338308 rs570588543 20:33543601-33543601 20:34955798-34955798
20 GSS NM_000178.4(GSS):c.*390G>TSNV Uncertain significance 338288 rs886056639 20:33516241-33516241 20:34928438-34928438
21 GSS NM_000178.4(GSS):c.1186A>G (p.Ile396Val)SNV Uncertain significance 338296 rs771438550 20:33517319-33517319 20:34929516-34929516
22 GSS NM_000178.4(GSS):c.957G>A (p.Met319Ile)SNV Uncertain significance 338298 rs202181009 20:33519814-33519814 20:34932011-34932011
23 GSS NM_000178.4(GSS):c.448G>A (p.Ala150Thr)SNV Uncertain significance 338301 rs549377370 20:33530334-33530334 20:34942531-34942531
24 GSS NM_000178.4(GSS):c.1158G>A (p.Leu386=)SNV Uncertain significance 338297 rs141866304 20:33517347-33517347 20:34929544-34929544
25 GSS NM_000178.4(GSS):c.73C>G (p.Arg25Gly)SNV Uncertain significance 461479 rs930264754 20:33539583-33539583 20:34951780-34951780
26 GSS NM_000178.4(GSS):c.-18A>GSNV Uncertain significance 338304 rs886056640 20:33543539-33543539 20:34955736-34955736
27 GSS NM_000178.4(GSS):c.-29T>ASNV Uncertain significance 338305 rs886056641 20:33543550-33543550 20:34955747-34955747
28 GSS NM_000178.4(GSS):c.*391A>TSNV Uncertain significance 338287 rs886056638 20:33516240-33516240 20:34928437-34928437
29 GSS NM_000178.4(GSS):c.1260C>G (p.Val420=)SNV Uncertain significance 338293 rs369657861 20:33517245-33517245 20:34929442-34929442
30 GSS NM_000178.4(GSS):c.787G>A (p.Val263Met)SNV Uncertain significance 897216 20:33523426-33523426 20:34935623-34935623
31 GSS NM_000178.4(GSS):c.602C>T (p.Ser201Leu)SNV Uncertain significance 898389 20:33529522-33529522 20:34941719-34941719
32 GSS NM_000178.4(GSS):c.-45G>CSNV Uncertain significance 898390 20:33543566-33543566 20:34955763-34955763
33 GSS NM_000178.4(GSS):c.754C>T (p.Arg252Ter)SNV Uncertain significance 631873 rs749741013 20:33524579-33524579 20:34936776-34936776
34 GSS NM_000178.4(GSS):c.1054G>A (p.Ala352Thr)SNV Uncertain significance 650657 20:33519196-33519196 20:34931393-34931393
35 GSS NM_000178.4(GSS):c.631C>G (p.Gln211Glu)SNV Uncertain significance 653428 20:33524804-33524804 20:34937001-34937001
36 GSS NM_000178.4(GSS):c.*323G>ASNV Uncertain significance 895319 20:33516308-33516308 20:34928505-34928505
37 GSS NM_000178.4(GSS):c.*185C>TSNV Uncertain significance 895320 20:33516446-33516446 20:34928643-34928643
38 GSS NM_000178.4(GSS):c.*183C>TSNV Uncertain significance 895321 20:33516448-33516448 20:34928645-34928645
39 GSS NM_000178.4(GSS):c.*68G>TSNV Uncertain significance 895322 20:33516563-33516563 20:34928760-34928760
40 GSS NM_000178.4(GSS):c.*31C>TSNV Uncertain significance 895323 20:33516600-33516600 20:34928797-34928797
41 GSS NM_000178.4(GSS):c.*20G>CSNV Uncertain significance 896741 20:33516611-33516611 20:34928808-34928808
42 GSS NM_000178.4(GSS):c.1126G>A (p.Gly376Arg)SNV Uncertain significance 896742 20:33517379-33517379 20:34929576-34929576
43 GSS NM_000178.4(GSS):c.1121T>G (p.Leu374Arg)SNV Uncertain significance 897214 20:33517384-33517384 20:34929581-34929581
44 GSS NM_000178.4(GSS):c.988C>T (p.Arg330Cys)SNV Likely benign 897215 20:33519783-33519783 20:34931980-34931980
45 GSS NM_000178.4(GSS):c.973C>T (p.Pro325Ser)SNV Likely benign 698137 20:33519798-33519798 20:34931995-34931995
46 GSS NM_000178.4(GSS):c.707G>A (p.Arg236Gln)SNV Likely benign 798240 20:33524626-33524626 20:34936823-34936823
47 GSS NM_000178.4(GSS):c.*69G>TSNV Likely benign 338291 rs200882573 20:33516562-33516562 20:34928759-34928759
48 GSS NM_000178.4(GSS):c.768-3C>TSNV Likely benign 338300 rs184506175 20:33523448-33523448 20:34935645-34935645
49 GSS NM_000178.4(GSS):c.-63G>CSNV Likely benign 338307 rs192442930 20:33543584-33543584 20:34955781-34955781
50 GSS NM_000178.4(GSS):c.468C>T (p.Ala156=)SNV Likely benign 382364 rs79420079 20:33530314-33530314 20:34942511-34942511

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

73 (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

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:

36
# 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
13.39 OPLAH GSS GLUL GGT1 G6PD ALOX5
2
Show member pathways
11.65 GGT1 ALOX5
3 11.57 GGT1 G6PD
4
Show member pathways
11.44 GGT1 ALOX5
5 11.28 GSS GLUL
6
Show member pathways
11.23 OPLAH GSS GGT1 G6PD
7 10.54 GGT1 ALOX5
8 9.86 GGT1 ALOX5

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 9.26 GSS GLUL GGT1 G6PD
2 cytosol GO:0005829 9.1 OPLAH GSS GLUL GGT1 G6PD ALOX5

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

# Name GO ID Score Top Affiliating Genes
1 regulation of inflammatory response GO:0050727 9.4 GGT1 ALOX5
2 response to tumor necrosis factor GO:0034612 9.37 GSS GGT1
3 cellular amino acid metabolic process GO:0006520 9.32 GSS GGT1
4 leukotriene metabolic process GO:0006691 9.26 GGT1 ALOX5
5 glutamate metabolic process GO:0006536 9.16 GLUL GGT1
6 glutathione metabolic process GO:0006749 9.13 OPLAH GGT1 G6PD
7 glutathione biosynthetic process GO:0006750 8.8 OPLAH GSS GGT1

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 GSS GLUL

Sources for Glutathione Synthetase 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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