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Mutations in brief no. 156. 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Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans." }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "Class I G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "class I glucose-6-phosphate dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anaemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anemia, G6PD deficient (favism), X-linked dominant", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "severe hemolytic anaemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "severe hemolytic anemia due to G6PD deficiency", "description": "" }, { "id": "MIM:300908", "resource": "MIM", "url": "https://www.omim.org/entry/300908", "name": "Anemia, congenital, non-spherocytic hemolytic, 1", "description": "Anemia, congenital, non-spherocytic hemolytic, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "2861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2861" } ] }, { "disease_id": "DOID:0051003", "recommended_name": { "id": "DOID:0051003", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0051003", "name": "congenital nonspherocytic hemolytic anemia 1", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia." }, "synonyms": [ { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency", "description": "Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. 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"url": "https://www.omim.org/entry/300908", "name": "Anemia, congenital, non-spherocytic hemolytic, 1", "description": "Anemia, congenital, non-spherocytic hemolytic, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0051003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051003" }, { "id": "0051003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051003" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11413-1" } ], "record_id": "pubmed.11499668", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", 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Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans." }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "Class I G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "class I glucose-6-phosphate dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anaemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anemia, G6PD deficient (favism), X-linked dominant", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "severe hemolytic anaemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "severe hemolytic anemia due to G6PD deficiency", "description": "" }, { "id": "MIM:300908", "resource": "MIM", "url": "https://www.omim.org/entry/300908", "name": "Anemia, congenital, non-spherocytic hemolytic, 1", "description": "Anemia, congenital, non-spherocytic hemolytic, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "2861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2861" } ] }, { "disease_id": "DOID:0051003", "recommended_name": { "id": "DOID:0051003", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0051003", "name": "congenital nonspherocytic hemolytic anemia 1", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia." }, "synonyms": [ { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency", "description": "Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. 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Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans." }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "Class I G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "class I glucose-6-phosphate dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anaemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anemia, G6PD deficient (favism), X-linked dominant", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "severe hemolytic anaemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "severe hemolytic anemia due to G6PD deficiency", "description": "" }, { "id": "MIM:300908", "resource": "MIM", "url": "https://www.omim.org/entry/300908", "name": "Anemia, congenital, non-spherocytic hemolytic, 1", "description": "Anemia, congenital, non-spherocytic hemolytic, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "2861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2861" } ] }, { "disease_id": "DOID:0051003", "recommended_name": { "id": "DOID:0051003", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0051003", "name": "congenital nonspherocytic hemolytic anemia 1", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia." }, "synonyms": [ { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency", "description": "Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. 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Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans." }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "Class I G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "class I glucose-6-phosphate dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anaemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "hemolytic anemia, G6PD deficient (favism), X-linked dominant", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "severe hemolytic anaemia due to G6PD deficiency", "description": "" }, { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "severe hemolytic anemia due to G6PD deficiency", "description": "" }, { "id": "MIM:300908", "resource": "MIM", "url": "https://www.omim.org/entry/300908", "name": "Anemia, congenital, non-spherocytic hemolytic, 1", "description": "Anemia, congenital, non-spherocytic hemolytic, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "2861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2861" } ] }, { "disease_id": "DOID:0051003", "recommended_name": { "id": "DOID:0051003", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0051003", "name": "congenital nonspherocytic hemolytic anemia 1", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia." }, "synonyms": [ { "id": "MONDO:0010480", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010480", "name": "anemia, nonspherocytic hemolytic, due to G6PD deficiency", "description": "Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. 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