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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
..Starting node ..Glutathione synthetase deficiency (C536835)
Child Nodes:
Sister Nodes:
..2-Methylacetoacetyl CoA thiolase deficiency (C535307)
..2-Methylbutyryl-CoA Dehydrogenase Deficiency (C566487)
..3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
..3-Hydroxyisobutyric aciduria (C535312)
..5-oxoprolinase deficiency (C535322)
..Acidemia, isovaleric (C538167)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Adams Nance syndrome (C538224)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Albinism (D000417) 30
..Alkaptonuria (D000474)
..Alpha-ketoglutarate dehydrogenase deficiency (C536582)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Aminoacylase 1 deficiency (C538246)
..Arakawa syndrome 2 (C537426)
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Aromatic amino acid decarboxylase deficiency (C537437)
..Beta ketothiolase deficiency (C535434)
..Beta-Aminoisobutyric Acid, Urinary Excretion of (C565904)
..Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
..Blue diaper syndrome (C536239)
..Camptodactyly taurinuria (C537972)
..Carboxypeptidase N Deficiency (C562876)
..Cystathionase Deficiency (C562680)
..Cysteine Peptiduria (C565659)
..Diaminopentanuria (C565630)
..Dibasic Amino Aciduria I (C567132)
..Dimethylglycine Dehydrogenase Deficiency (C565278)
..Gamma aminobutyric acid transaminase deficiency (C535407)
..Glucoglycinuria (C562670)
..Glutamate Monosodium Sensitivity (C562377)
..Glutamine deficiency, congenital (C536832)
..Glutaric aciduria 1 (C536833)
..Glutaric Aciduria III (C562818)
..Glutathione synthetase deficiency (C536835)
..Glutathionuria (C536836)
..Glycine N-Methyltransferase Deficiency (C564683)
..Glycinuria with or without Oxalate Urolithiasis (C563009)
..Histidinemia (C538320)
..Homocarnosinosis (C535328)
..Hydroxykynureninuria (C536081)
..Hydroxyprolinemia (C562669)
..Hyperglycinemia, Nonketotic (D020158) 1
..HYPERGLYCINURIA (OMIM:138500)
..Hyperhomocysteinemia (D020138) 8
..Hyperleucine-Isoleucinemia (C562674)
..Hyperlysinemias (D020167) 3
..Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase (C566700)
..Hyperprolinemia (C538384)
..Hyperprolinemia type 2 (C538385)
..Hypertaurinuric Cardiomyopathy (C564157)
..Hypertryptophanemia (C538393)
..Hypertryptophanemia, Familial (C563467)
..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
..Indolylacroyl Glycinuria with Mental Retardation (C565466)
..Isobutyryl-CoA dehydrogenase deficiency (C535541)
..Ketoadipicaciduria (C565453)
..Lysine Malabsorption Syndrome (C563080)
..Lysinuric Protein Intolerance (C562687)
..Maple Syrup Urine Disease (D008375) 5
..Mercaptolactate-Cysteine Disulfiduria (C563085)
..Methionine Adenosyltransferase Deficiency (C562681)
..Methionine Malabsorption Syndrome (C562682)
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Methylmalonic acidemia (C537358) 1
..Methylmalonic acidemia with homocystinuria (C537359)
..Methylmalonic Aciduria and Homocystinuria, CblD Type (C564743)
..Methylmalonic Aciduria and Homocystinuria, CblF Type (C564747)
..Methylmalonic aciduria cblA type (C537360)
..Methylmalonic aciduria cblB type (C537361)
..Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency (C565390)
..Methylmalonyl-CoA Epimerase Deficiency (C565386)
..Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency (C565387)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Carboxylase Deficiency (D009100) 4
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Phenylketonurias (D010661) 8
..Prolidase Deficiency (D056732)
..Propionic Acidemia (D056693) 1
..Richards-Rundle syndrome (C535674)
..Sarcosinemia (C537236)
..succinic semialdehyde dehydrogenase deficiency (C535803)
..Sulfite oxidase deficiency (C538141)
..Tiglic acidemia (C536921)
..Tryptophanuria With Dwarfism (C562658)
..Tyrosinemias (D020176) 1
..Tyrosinosis (C562659)
..Urea Cycle Disorders, Inborn (D056806) 16
..Urocanase deficiency (C536479)
..Valinemia (C536524)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4697

Name:

Glutathione synthetase deficiency

Definition:

Alternative IDs:

OMIM:266130

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100/C536835 |C18.452.648.100/C536835

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C536835
MeSH: C536835
OMIM: 266130;

Genes: GSS;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001251	Ataxia
3	HP:0001996	Chronic metabolic acidosis
4	HP:0001260	Dysarthria
5	HP:0001878	Hemolytic anemia
6	HP:0410132	Increased level of L-pyroglutamic acid in urine
7	HP:0001249	Intellectual disability
8	HP:0002080	Intention tremor
9	HP:0001875	Neutropenia
10	HP:0000580	Pigmentary retinopathy
11	HP:0001345	Psychotic mentation
12	HP:0003343	Reduced glutathione synthetase level
13	HP:0001250	Seizure
14	HP:0001285	Spastic tetraparesis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000178.3(GSS):c.941C>T (p.Pro314Leu)	2937	GSS	Pathogenic	75863437	RCV000009056;	N	MedGen:C0398746,OMIM:266130,ORPHA:289846,SNOMED CT:234589002	20	33519830	33519830	NM_000178.3:c.941C>T	NP_000169.1:p.Pro314Leu	NC_000020.10:g.33519830G>A	OMIM Allelic Variant:601002.0006	C0398746 266130 Gluthathione synthetase deficiency
NM_000178.3(GSS):c.847C>T (p.Arg283Cys)	2937	GSS	Pathogenic	121909309	RCV000009054;	N	MedGen:C0398746,OMIM:266130,ORPHA:289846,SNOMED CT:234589002	20	33519924	33519924	NM_000178.3:c.847C>T	NP_000169.1:p.Arg283Cys	NC_000020.10:g.33519924G>A	OMIM Allelic Variant:601002.0004	C0398746 266130 Gluthathione synthetase deficiency
NM_000178.3(GSS):c.799C>T (p.Arg267Trp)	2937	GSS	Pathogenic	121909308	RCV000009053;	N	MedGen:C0398746,OMIM:266130,ORPHA:289846,SNOMED CT:234589002	20	33523414	33523414	NM_000178.3:c.799C>T	NP_000169.1:p.Arg267Trp	NC_000020.10:g.33523414G>A	OMIM Allelic Variant:601002.0003	C0398746 266130 Gluthathione synthetase deficiency
NM_000178.3(GSS):c.491G>A (p.Arg164Gln)	2937	GSS	Pathogenic	121909307	RCV000009051;	N	MedGen:C0398746,OMIM:266130,ORPHA:289846,SNOMED CT:234589002	20	33530291	33530291	NM_000178.3:c.491G>A	NP_000169.1:p.Arg164Gln	NC_000020.10:g.33530291C>T	OMIM Allelic Variant:601002.0001	C0398746 266130 Gluthathione synthetase deficiency
NM_000178.3(GSS):c.373C>T (p.Arg125Cys)	2937	GSS	Pathogenic	28936396	RCV000009055;	N	MedGen:C0398746,OMIM:266130,ORPHA:289846,SNOMED CT:234589002	20	33530409	33530409	NM_000178.3:c.373C>T	NP_000169.1:p.Arg125Cys	NC_000020.10:g.33530409G>A	OMIM Allelic Variant:601002.0005	C0398746 266130 Gluthathione synthetase deficiency