eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| 5-oxoprolinuria | ||||
| Disease ID | 1337 |
|---|---|
| Disease | 5-oxoprolinuria |
| Definition | An autosomal recessive genetic disorder caused by mutation(s) in the GSS gene, encoding glutathione synthetase. Mutation(s) in the same gene is causative in hemolytic anemia due to glutathione synthetase deficiency, with the more severe condition causing elevated urinary concentrations of 5-oxoproline and central nervous system damage in addition to hemolytic anemia. |
| Synonym | 5 oxoprolinuria 5-oxoprolinemia deficiency of glutathione synthase deficiency of glutathione synthase (disorder) deficiency of glutathione synthetase glutathione synthase deficiency with 5-oxoprolinuria glutathione synthase deficiency with 5-oxoprolinuria (disorder) glutathione synthetase deficiency glutathione synthetase deficiency (disorder) gluthathione synthetase deficiency gluthathione synthetase deficiency (disorder) gssd pyroglutamic acidaemia pyroglutamic acidemia pyroglutamic aciduria |
| Orphanet | |
| OMIM | |
| UMLS | C0398746 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1337 |
|---|---|
| Disease | 5-oxoprolinuria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0001250 | Seizures HP:0001251 | Ataxia HP:0002080 | Intention tremor HP:0001878 | Haemolytic anaemia HP:0000580 | Pigmentary retinopathy HP:0001345 | Psychotic mentation HP:0001996 | Chronic metabolic acidosis HP:0001875 | Neutropenia HP:0001260 | Dysarthric speech HP:0001285 | Spastic tetraparesis HP:0001249 | Mental retardation HP:0003343 | Glutathione synthetase deficiency |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1337 |
|---|---|
| Disease | 5-oxoprolinuria |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| GSS | c.4delG | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909307 | NA | 2937 | GSS | umls:C0398746 | CLINVAR | NA | 0.480271442 | NA | GSS | 20 | 34942488 | C | T |
| rs121909308 | NA | 2937 | GSS | umls:C0398746 | CLINVAR | NA | 0.480271442 | NA | GSS | 20 | 34935611 | G | A |
| rs121909309 | NA | 2937 | GSS | umls:C0398746 | CLINVAR | NA | 0.480271442 | NA | GSS | 20 | 34932121 | G | A |
| rs148640446 | NA | 2937 | GSS | umls:C0398746 | UNIPROT | NA | 0.480271442 | NA | GSS | 20 | 34931980 | G | A |
| rs28936396 | NA | 2937 | GSS | umls:C0398746 | CLINVAR | NA | 0.480271442 | NA | GSS | 20 | 34942606 | G | A |
| rs28938472 | 8896573 | 2937 | GSS | umls:C0398746 | UNIPROT | Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. | 0.480271442 | 1996 | GSS | 20 | 34936976 | T | C |
| rs75863437 | NA | 2937 | GSS | umls:C0398746 | CLINVAR | NA | 0.480271442 | NA | GSS | 20 | 34932027 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001878 | Hemolytic anemia | MP:0008388 | hypochromic microcytic anemia | hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001996 | Chronic metabolic acidosis | MP:0011092 | embryonic lethality, complete penetrance | death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14) |
| HP:0001345 | Psychotic mentation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001285 | Spastic tetraparesis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003343 | Glutathione synthetase deficiency | MP:0011092 | embryonic lethality, complete penetrance | death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14) |
| HP:0001878 | Hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001875 | Neutropenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002080 | Intention tremor | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000580 | Pigmentary retinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1337 |
|---|---|
| Disease | 5-oxoprolinuria |
| Case | (Waiting for update.) |