Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (4.0%) |
29395598 |
Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy. Fakhoury O, Conrath J, Donnadieu B, Warrak R, Matonti F. J Fr Ophtalmol. 2018;41(2):116-121. |
Cystoid macular edema | ||
Administration, Oral Amino Acid Metabolism, Inborn Errors Child Combination Drug Therapy Combined Modality Therapy Diseases in Twins Homo sapiens Male Ophthalmic Solution Retinal Dystrophies Sulfonamides Thiophenes | ||
1 (4.0%) |
29340523 (5769757) |
A case of severe glutathione synthetase deficiency with novel GSS mutations. Xia H, Ye J, Wang L, Zhu J, He Z. Braz J Med Biol Res. 2018;51(3):e6853. |
Hemolytic anemia | ||
GSS | ||
c|DUP|738|G| p|FS|S|247|| | ||
Acidosis Amino Acid Metabolism, Inborn Errors Homo sapiens Infant, Newborn Male Mutation Pyroglutamate Hydrolase Sequence Analysis, DNA | ||
1 (4.0%) |
28267090 |
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency. Soylu Ustkoyuncu P, Mutlu FT, Kiraz A, Tag Balkis Z, Yel S. J Pediatr Hematol Oncol. 2018;40(1):e45-e49. |
Hemolytic anemia | ||
GSS | ||
c|SUB|G|374|A;RS#:748780943 p|SUB|R|125|H;RS#:748780943 | ||
Amino Acid Metabolism, Inborn Errors Anemia, Hemolytic Anemia, Hemolytic, Congenital Differential Diagnosis Females Homo sapiens Infant, Newborn Mutation | ||
1 (4.0%) |
27581854 |
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. Signolet I, Chenouard R, Oca F, Barth M, Reynier P, Denis MC, Simard G. Pediatrics. 2016;138(3):. |
Hemolytic anemia | ||
GSS | ||
c|SUB|A|656|G;RS#:28938472 c|SUB|T|902|C p|SUB|D|219|G;RS#:28938472 p|SUB|L|301|P | ||
Amino Acid Metabolism, Inborn Errors Anemia, Hemolytic Homo sapiens Infant, Newborn Male | ||
1 (4.0%) |
26984560 (4961564) |
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency. Atwal PS, Medina CR, Burrage LC, Sutton VR. J Hum Genet. 2016;61(7):669-72. |
Hemolytic anemia | ||
GSS | ||
Acidosis Amino Acid Metabolism, Inborn Errors Child Child Development Child, Preschool Enzyme Activation Females Follow-Up Studies Homo sapiens Infant Phenotype Severity of Illness Index Young Adult | ||
1 (4.0%) |
26669244 |
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency. Gunduz M, Unal O, Kavurt S, Turk E, Mungan NO. J Pediatr Endocrinol Metab. 2016;29(4):481-5. |
Intellectual disability | ||
GSS | ||
Acidosis Amino Acid Metabolism, Inborn Errors Females Gas Chromatography-Mass Spectrometry Homo sapiens Infant, Newborn Male Mutation | ||
1 (4.0%) |
25166299 |
Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency. Ben Ameur S, Aloulou H, Nasrallah F, Kamoun T, Kaabachi N, Hachicha M. Fetal Pediatr Pathol. 2015;34(1):18-20. |
Hemolytic anemia | ||
GSS | ||
Acidosis Amino Acid Metabolism, Inborn Errors Anemia, Hemolytic Antioxidants Erythrocytes Fatal Outcome Fever Fibroblasts Homo sapiens Infant Klebsiella Infections Male Sepsis Skin Tunisia | ||
1 (4.0%) |
19728142 |
Diagnosis of glutathione synthetase deficiency in newborn screening. Simon E, Vogel M, Fingerhut R, Ristoff E, Mayatepek E, Spiekerkotter U. J Inherit Metab Dis. 2009;32 Suppl 1:S269-72. |
Acidosis | ||
GSS | ||
Amino Acid Metabolism, Inborn Errors DNA Mutational Analysis Homo sapiens Infant Infant, Newborn Male Mutation Neonatal Screening Tandem Mass Spectrometry | ||
1 (4.0%) |
17206463 |
Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency. Ristoff E, Burstedt M, Larsson A, Wachtmeister L. J Inherit Metab Dis. 2007;30(1):102. |
Blindness | ||
GSS | ||
Antioxidants Electroretinography Females Free Radical Scavengers Homo sapiens Inborn Errors of Metabolism Oxidation-Reduction Reactive Oxygen Species Retinal Diseases | ||
1 (4.0%) |
15519833 |
[Gluthathion synthetase deficit in a newborn infant]. Fily A, Vaillant C, Truffert P, Rouland V, Dobbelaere D, Kacet N. Arch Pediatr. 2004;11(11):1339-41. |
Metabolic acidosis | ||
GSS | ||
Females Homo sapiens Infant, Newborn |
Total: 5
HPO ID | Term | Frequency |
---|---|---|
HP:0000707 | Abnormality of the nervous system | Very frequent (99-80%) |
HP:0001878 | Hemolytic anemia | Very frequent (99-80%) |
HP:0001996 | Chronic metabolic acidosis | Very frequent (99-80%) |
HP:0003343 | Reduced glutathione synthetase activity | Very frequent (99-80%) |
HP:0010978 | Abnormality of immune system physiology | Very frequent (99-80%) |
Total: 5
HPO ID | Term | # of case reports |
---|---|---|
HP:0001878 | Hemolytic anemia | 5 |
HP:0001942 | Metabolic acidosis | 4 |
HP:0001022 | Albinism | 1 |
HP:0003128 | Lactic acidosis | 1 |
HP:0012072 | Aciduria | 1 |
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|