{"Name":"Pyruvate kinase deficiency of red cells","DiseaseID__c":"GARD:0007514","id":7514,"encodedName":"pyruvate-kinase-deficiency-of-red-cells","IsDeleted":false,"Disease_Name_Full__c":"Pyruvate kinase deficiency of red cells","Xref_IDs__c":"124331002; C0340968; C564858; C99037; DOID:0111077; MEDGEN:473069; MONDO:0009950; OMIM:266200; ORPHA:766","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009950","Disease_Description__c":"A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.","GARD_Name__c":"Pyruvate kinase deficiency of red cells","GARD_Synonym__c":"anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient; cnsha2; deficiency of phosphoenol transphosphorylase; deficiency of phosphoenolpyruvate kinase; deficiency of pyruvate kinase; hemolytic anaemia due to pyruvate kinase deficiency; hemolytic anaemia due to red cell pyruvate kinase deficiency; hemolytic anemia due to pyruvate kinase deficiency; hemolytic anemia due to red cell pyruvate kinase deficiency; pk - pyruvate kinase deficiency; pk deficiency; pyruvate kinase deficiency; pyruvate kinase deficiency of erythrocyte; pyruvate kinase deficiency of erythrocytes; pyruvate kinase deficiency, amish type","Curated_Disease_Description_Source__c":"GARD:0007514","Curated_Disease_Description__c":"Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Specifically, pyruvate kinase deficiency is a common cause of a type of inherited hemolytic anemia called hereditary nonspherocytic hemolytic anemia. In hereditary nonspherocytic hemolytic anemia, the red blood cells do not assume a spherical shape as they do in some other forms of hemolytic anemia. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) are also common in this disorder. In people with pyruvate kinase deficiency, hemolytic anemia and associated complications may range from mild to severe. Some affected individuals have few or no symptoms. Severe cases can be life-threatening in infancy, and such affected individuals may require regular blood transfusions to survive. The symptoms of this disorder may get worse during an infection or pregnancy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:766","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009950","ORPHANET_ID__c":"ORPHA:766","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia hemolítica por deficiencia de piruvato quinasa de los glóbulos rojos","Spanish_Description_Source__c":"ORPHA:766","Spanish_Description__c":"Es un trastorno hereditario poco frecuente del metabolismo eritrocitario que obedece a una deficiencia de la enzima piruvatocinasa (PK). Se caracteriza por anemia hemolítica no esferocítica crónica y de intensidad variable que puede ir desde una hemólisis totalmente compensada y sin anemia aparente, hasta una anemia muy grave, de inicio neonatal, que puede comportar la muerte.","Spanish_Disease_Name__c":"anemia hemolítica por deficiencia de piruvato quinasa de los glóbulos rojos","Spanish_GARD_Synonym__c":null,"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":"Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Specifically, pyruvate kinase deficiency is a common cause of a type of inherited hemolytic anemia called hereditary nonspherocytic hemolytic anemia. In hereditary nonspherocytic hemolytic anemia, the red blood cells do not assume a spherical shape as they do in some other forms of hemolytic anemia. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) are also common in this disorder. In people with pyruvate kinase deficiency, hemolytic anemia and associated complications may range from mild to severe. Some affected individuals have few or no symptoms. Severe cases can be life-threatening in infancy, and such affected individuals may require regular blood transfusions to survive. The symptoms of this disorder may get worse during an infection or pregnancy.","Curated_Disease_Description_Source__c":"GARD:0007514","GARD_Synonym__c":"anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient; cnsha2; deficiency of phosphoenol transphosphorylase; deficiency of phosphoenolpyruvate kinase; deficiency of pyruvate kinase; hemolytic anaemia due to pyruvate kinase deficiency; hemolytic anaemia due to red cell pyruvate kinase deficiency; hemolytic anemia due to pyruvate kinase deficiency; hemolytic anemia due to red cell pyruvate kinase deficiency; pk - pyruvate kinase deficiency; pk deficiency; pyruvate kinase deficiency; pyruvate kinase deficiency of erythrocyte; pyruvate kinase deficiency of erythrocytes; pyruvate kinase deficiency, amish type","Name":"Pyruvate kinase deficiency of red cells","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pyruvate Kinase Deficiency International Alliance","Website__c":"https://pkdia.org/"},{"Account_Name__c":"Pyruvate Kinase Deficiency: Understanding and living with PKD","Website__c":"https://pyruvatekinasedeficiency.com/"}],"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:766"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:766"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0340968"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007514","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99037","Source__c":"C0340968; MONDO:0009950","Xref__c":"C99037"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564858","Source__c":"MONDO:0009950","Xref__c":"C564858"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111077","Source__c":"MONDO:0009950","Xref__c":"DOID:0111077"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0340968","Source__c":"C0340968","Xref__c":"C0340968"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124331002","Source__c":"C0340968; MONDO:0009950","Xref__c":"124331002"},{"URL__c":"https://www.orpha.net/en/disease/detail/766","Source__c":"C0340968; MONDO:0009950; ORPHA:766","Xref__c":"ORPHA:766"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=473069","Source__c":"C0340968","Xref__c":"MEDGEN:473069"},{"URL__c":"https://www.omim.org/entry/266200","Source__c":"C0340968; MONDO:0009950; ORPHA:766","Xref__c":"OMIM:266200"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009950","Source__c":"GARD:0007514","Xref__c":"MONDO:0009950"},{"URL__c":"https://medlineplus.gov/genetics/condition/pyruvate-kinase-deficiency","Source__c":"GARD:0007514","Xref__c":"https://medlineplus.gov/genetics/condition/pyruvate-kinase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PKLR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pklr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:766","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:766","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:766","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:766","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An chronic form of hemolytic anemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004870","HPO_Synonym__c":"hemolytic anemia, chronic","HPO_Name__c":"Chronic hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:766","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025109","HPO_Synonym__c":"Reduced erythrocyte pyruvate kinase activity","HPO_Name__c":"Reduced red cell pyruvate kinase level","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:766","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased concentration of ferritin in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003281","HPO_Synonym__c":"Elevated serum ferritin; High ferritin level; Hyperferritinaemia; Hyperferritinemia; Increased ferritin; Increased plasma ferritin; Increased serum ferritin level","HPO_Name__c":"Increased circulating ferritin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:766","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:766","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:766","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of erythrocytes (red-blood cells).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001877","HPO_Synonym__c":"Abnormality of erythrocytes; Abnormality of red blood cells","HPO_Name__c":"Abnormal erythrocyte morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:766","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of hemolytic anemia with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004804","HPO_Synonym__c":"Congenital haemolytic anemia","HPO_Name__c":"Congenital hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:766","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:766","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001789","HPO_Name__c":"Hydrops fetalis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:766","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An above normal level of saturation of serum transferrin with iron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012463","HPO_Name__c":"Elevated transferrin saturation","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:766","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of iron in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003452","HPO_Synonym__c":"Increased serum iron","HPO_Name__c":"Increased circulating iron concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:766","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient"," cnsha2"," deficiency of phosphoenol transphosphorylase"," deficiency of phosphoenolpyruvate kinase"," deficiency of pyruvate kinase"," hemolytic anaemia due to pyruvate kinase deficiency"," hemolytic anaemia due to red cell pyruvate kinase deficiency"," hemolytic anemia due to pyruvate kinase deficiency"," hemolytic anemia due to red cell pyruvate kinase deficiency"," pk - pyruvate kinase deficiency"," pk deficiency"," pyruvate kinase deficiency"," pyruvate kinase deficiency of erythrocyte"," pyruvate kinase deficiency of erythrocytes"," pyruvate kinase deficiency, amish type"]}