{"Name":"Anemia, nonspherocytic hemolytic, due to G6PD deficiency","DiseaseID__c":"GARD:0006520","id":6520,"encodedName":"anemia-nonspherocytic-hemolytic-due-to-g6pd-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Anemia, nonspherocytic hemolytic, due to G6PD deficiency","Xref_IDs__c":"C2720289; C567533; DOID:0051003; MEDGEN:403555; MONDO:0010480; OMIM:300908; ORPHA:466026","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010480","Disease_Description__c":"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 G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.","GARD_Name__c":"Anemia, nonspherocytic hemolytic, due to G6PD deficiency","GARD_Synonym__c":"anemia, congenital, nonspherocytic hemolytic, 1; anemia, congenital, nonspherocytic hemolytic, 1, g6pd deficient; class i g6pd deficiency; class i glucose-6-phosphate dehydrogenase deficiency; cnsha1; favism, susceptibility to; hemolytic anaemia due to g6pd deficiency; hemolytic anemia due to g6pd deficiency; hemolytic anemia, g6pd deficient (favism), x-linked dominant; severe hemolytic anaemia due to g6pd deficiency; severe hemolytic anemia due to g6pd deficiency","Curated_Disease_Description_Source__c":"GARD:0006520","Curated_Disease_Description__c":"Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that  affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. This destruction of red blood cells is called hemolysis. The most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, and a rapid heart rate. In people with glucose-6-phosphate dehydrogenase deficiency, hemolytic anemia is most often triggered by bacterial or viral infections or by certain drugs (such as some antibiotics and medications used to treat malaria). Hemolytic anemia can also occur after eating fava beans or inhaling pollen from fava plants (a reaction called favism). Glucose-6-phosphate dehydrogenase deficiency is also a significant cause of mild to severe jaundice in newborns. Many people with this disorder, however, never experience any signs or symptoms and are unaware that they have the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:466026","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010480","ORPHANET_ID__c":"ORPHA:466026","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de glucosa-6-fosfato deshidrogenasa clase i","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de glucosa-6-fosfato deshidrogenasa clase i","Spanish_GARD_Synonym__c":"anemia hemolítica grave por deficiencia de g6pd; deficiencia de g6pd clase i","Category_Linearization__c":"ORPHA:97992","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that  affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. This destruction of red blood cells is called hemolysis. The most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, and a rapid heart rate. In people with glucose-6-phosphate dehydrogenase deficiency, hemolytic anemia is most often triggered by bacterial or viral infections or by certain drugs (such as some antibiotics and medications used to treat malaria). Hemolytic anemia can also occur after eating fava beans or inhaling pollen from fava plants (a reaction called favism). Glucose-6-phosphate dehydrogenase deficiency is also a significant cause of mild to severe jaundice in newborns. Many people with this disorder, however, never experience any signs or symptoms and are unaware that they have the condition.","Curated_Disease_Description_Source__c":"GARD:0006520","GARD_Synonym__c":"anemia, congenital, nonspherocytic hemolytic, 1; anemia, congenital, nonspherocytic hemolytic, 1, g6pd deficient; class i g6pd deficiency; class i glucose-6-phosphate dehydrogenase deficiency; cnsha1; favism, susceptibility to; hemolytic anaemia due to g6pd deficiency; hemolytic anemia due to g6pd deficiency; hemolytic anemia, g6pd deficient (favism), x-linked dominant; severe hemolytic anaemia due to g6pd deficiency; severe hemolytic anemia due to g6pd deficiency","Name":"Anemia, nonspherocytic hemolytic, due to G6PD deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"g6pd Deficiency Foundation","Website__c":"https://g6pddf.org/"},{"Account_Name__c":"The G6PD Favism Association","Website__c":"https://www.g6pd.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:466026"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006520","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2720289","Source__c":"C2720289","Xref__c":"C2720289"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567533","Source__c":"MONDO:0010480","Xref__c":"C567533"},{"URL__c":"https://www.orpha.net/en/disease/detail/466026","Source__c":"C2720289; MONDO:0010480","Xref__c":"ORPHA:466026"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=403555","Source__c":"C2720289","Xref__c":"MEDGEN:403555"},{"URL__c":"https://www.omim.org/entry/300908","Source__c":"C2720289; MONDO:0010480","Xref__c":"OMIM:300908"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010480","Source__c":"GARD:0006520","Xref__c":"MONDO:0010480"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0051003","Source__c":"MONDO:0010480","Xref__c":"DOID:0051003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"G6PD","GHR_URL__c":"https://medlineplus.gov/genetics/gene/g6pd","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300908","Feature__r":{"HPO_Description__c":"The presence of abnormally shaped erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004447","HPO_Name__c":"Poikilocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300908","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300908","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300908","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of hemolytic anemia that is induced by the ingestion of fava beans.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004814","HPO_Synonym__c":"Hemolytic anemia following ingestion of fava beans","HPO_Name__c":"Fava bean-induced hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300908","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006579","HPO_Synonym__c":"Neonatal jaundice; Prolonged yellowing of skin in newborn","HPO_Name__c":"Prolonged neonatal jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300908","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300908","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300908","Feature__r":{"HPO_Description__c":"The presence of free hemoglobin in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003641","HPO_Synonym__c":"Hemoglobin in urine","HPO_Name__c":"Hemoglobinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:300908","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decrease in the level of glucose-6-phosphate dehydrogenase in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410179","HPO_Synonym__c":"Decreased G6PD level in blood","HPO_Name__c":"Decreased glucose-6-phosphate dehydrogenase level in blood","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:300908","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300908","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300908","Feature__r":{"HPO_Description__c":"Abnormally increased variability in the size of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011273","HPO_Synonym__c":"Unequal size of red blood cells","HPO_Name__c":"Anisocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300908","Feature__r":{"HPO_Description__c":"A type of erythrocyte inclusion composed of denatured hemoglobin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020082","HPO_Name__c":"Heinz bodies","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300908","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300908","Feature__r":{"HPO_Description__c":"An increased amount of unconjugated (indirect) bilurubin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008282","HPO_Name__c":"Unconjugated hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["anemia, congenital, nonspherocytic hemolytic, 1"," anemia, congenital, nonspherocytic hemolytic, 1, g6pd deficient"," class i g6pd deficiency"," class i glucose-6-phosphate dehydrogenase deficiency"," cnsha1"," favism, susceptibility to"," hemolytic anaemia due to g6pd deficiency"," hemolytic anemia due to g6pd deficiency"," hemolytic anemia, g6pd deficient (favism), x-linked dominant"," severe hemolytic anaemia due to g6pd deficiency"," severe hemolytic anemia due to g6pd deficiency"]}