Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (4.0%) |
15074378 |
A newborn infant with generalized glutathione synthetase deficiency. Yapicioglu H, Satar M, Tutak E, Narli N, Topaloglu AK. Turk J Pediatr. 2004;46(1):72-5. |
Hemolytic anemia | ||
GSS | ||
Acidosis Fatal Outcome Females Homo sapiens Inborn Errors of Metabolism Infant, Newborn | ||
1 (4.0%) |
11167850 |
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies. Corrons JL, Alvarez R, Pujades A, Zarza R, Oliva E, Lasheras G, Callis M, Ribes A, Gelbart T, Beutler E. Br J Haematol. 2001;112(2):475-82. |
Splenomegaly | ||
G6PD GSS HK1 | ||
c|SUB|A|656|G;RS#:28938472 c|SUB|T|808|C rs28938472 | ||
Adult Anemia, Hemolytic, Congenital Erythrocytes Females Homo sapiens Infant Male Middle Aged Point Mutation Reverse Transcriptase Polymerase Chain Reaction Single-Stranded Conformational Polymorphism Spain | ||
1 (4.0%) |
8847804 |
[Glutathione synthetase deficiency]. Iyori H, Hirono A, Kobayashi N, Ishitoya N, Akatsuka J, Kanno H, Fujii H, Miwa S. Rinsho Ketsueki. 1996;37(4):329-34. |
Nonspherocytic hemolytic anemia | ||
GSS GSTK1 | ||
Child Females Glutathione S-Transferase Homo sapiens Japan Male | ||
1 (4.0%) |
8634459 |
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency. Hirono A, Iyori H, Sekine I, Ueyama J, Chiba H, Kanno H, Fujii H, Miwa S. Blood. 1996;87(5):2071-4. |
Hemolytic anemia | ||
GSS | ||
Adult Anemia, Hemolytic, Congenital Nonspherocytic Child Child, Preschool Erythrocytes Females Glutamate-Cysteine Ligase Glutathione Reductase Homo sapiens Male Oxidation-Reduction | ||
1 (4.0%) |
8301428 |
Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency. Jain A, Buist NR, Kennaway NG, Powell BR, Auld PA, Martensson J. J Pediatr. 1994;124(2):229-33. |
Aciduria | ||
GSS | ||
Child, Preschool Females Homo sapiens Inborn Errors of Metabolism Lymphocyte | ||
1 (4.0%) |
6882923 |
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency. Prchal JT, Crist WM, Roper M, Wellner VP. Blood. 1983;62(4):754-7. |
Albinism | ||
GSS | ||
Acidosis Albinism Anemia, Hemolytic Cultured Cells Erythrocytes Fibroblasts Glucosephosphate Dehydrogenase Homo sapiens Infant Male | ||
1 (4.0%) |
4047346 |
Ophthalmological, psychometric and therapeutic investigation in two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria). Larsson A, Wachtmeister L, von Wendt L, Andersson R, Hagenfeldt L, Herrin KM. Neuropediatrics. 1985;16(3):131-6. |
Acidosis | ||
Child Electroretinography Females Homo sapiens Psychometrics Pyrrolidinones Retinal Diseases | ||
1 (4.0%) |
3944259 |
Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency. Beutler E, Gelbart T, Pegelow C. J Clin Invest. 1986;77(1):38-41. |
Hemolytic anemia | ||
GSS GSTK1 | ||
Anemia, Hemolytic Child Dithionitrobenzoic Acid Erythrocytes Glutathione S-Transferase Homo sapiens Leukocytes Male Reticulocytes | ||
1 (4.0%) |
2702756 |
Pyroglutamic acidemia in an adult patient. Creer MH, Lau BW, Jones JD, Chan KM. Clin Chem. 1989;35(4):684-6. |
Ataxia | ||
GSS | ||
Acidosis Amino Acid Metabolism, Inborn Errors Females Gas Chromatography-Mass Spectrometry Homo sapiens Middle Aged Pyrrolidinones |
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 |
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