eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pyruvate kinase deficiency | ||||
| Disease ID | 768 |
|---|---|
| Disease | pyruvate kinase deficiency |
| Definition | autosomal recessive deficiency of the erythrocytic isozyme of pyruvate kinase, the most common glycolytic enzyme defect in the Embden-Meyerhof pathway; deficient product (ATP) causes chronic hemolytic anemia of widely variable severity. |
| Synonym | anemia, hemolytic, dacie type ii anemia, hemolytic, pyruvate kinase deficiency deficiency kinase pyruvate deficiency of phosphoenol transphosphorylase deficiency of phosphoenolpyruvate kinase deficiency of pyruvate kinase deficiency of pyruvate kinase (disorder) pk - pyruvate kinase deficiency pk deficiency pyruvate kinase deficiency of erythrocyte pyruvate kinase deficiency of red cells |
| OMIM | |
| UMLS | C0340968 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| 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 | 768 |
|---|---|
| Disease | pyruvate kinase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0001744 | Splenomegaly HP:0000952 | Yellow skin HP:0001923 | Reticulocytosis HP:0004870 | hemolytic anemia, chronic HP:0001790 | Nonimmune hydrops fetalis HP:0001511 | Prenatal onset growth retardation HP:0001082 | Cholecystitis HP:0001560 | Abnormality of the amniotic fluid HP:0008282 | Unconjugated hyperbilirubinemia HP:0005502 | Increased red cell osmotic fragility HP:0001081 | Gallstones |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 768 |
|---|---|
| Disease | pyruvate kinase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:13) C2613439 | extramedullary hematopoiesis C2613439 | extramedullary haemopoiesis C1963148 | iron overload C1700942 | idiopathic pulmonary arterial hypertension C1000483 | anemia C0857007 | neonatal hyperbilirubinemia C0242183 | haemolytic jaundice C0205882 | parvovirus infection C0037889 | spherocytic hemolytic anemia C0023223 | leg ulcers C0002878 | hemolytic anemia C0002878 | haemolytic anaemia C0002871 | anaemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113403872 | 8180378 | 5313 | PKLR | umls:C0340968 | UNIPROT | Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia. | 0.442985861 | 1994 | PKLR | 1 | 155291845 | C | T |
| rs116100695 | 11960989 | 5313 | PKLR | umls:C0340968 | UNIPROT | Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. | 0.442985861 | 2002 | PKLR | 1 | 155291918 | G | A |
| rs185753709 | 11960989 | 5313 | PKLR | umls:C0340968 | UNIPROT | Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. | 0.442985861 | 2002 | PKLR | 1 | 155291863 | C | A |
| rs200133000 | NA | 5313 | PKLR | umls:C0340968 | UNIPROT | NA | 0.442985861 | NA | PKLR | 1 | 155291906 | G | A |
| rs61755431 | 21794208 | 5313 | PKLR | umls:C0340968 | UNIPROT | Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications. | 0.442985861 | 2011 | PKLR | 1 | 155290591 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005502 | Increased red cell osmotic fragility | MP:0009395 | increased nucleated erythrocyte cell number | presence of increased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells |
| HP:0001790 | Nonimmune hydrops fetalis | MP:0002192 | hydrops fetalis | an abnormal accumulation of serous fluid in fetal tissues |
| HP:0001511 | Intrauterine growth retardation | 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:0004870 | Chronic hemolytic anemia | MP:0001585 | hemolytic anemia | deficiency of red cells resulting from an increased rate of erythrocyte destruction |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001081 | Cholelithiasis | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0005502 | Increased red cell osmotic fragility | MP:0012106 | impaired exercise endurance | impaired performance during controlled physical activity |
| HP:0001923 | Reticulocytosis | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001560 | Abnormality of the amniotic fluid | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0001082 | Cholecystitis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0008282 | Unconjugated hyperbilirubinemia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0004870 | Chronic hemolytic anemia | MP:0011178 | increased erythroblast number | greater number of the nucleated precursor of erythrocytes |
| HP:0001790 | Nonimmune hydrops fetalis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 768 |
|---|---|
| Disease | pyruvate kinase deficiency |
| Case | (Waiting for update.) |