eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| paroxysmal nocturnal hemoglobinuria | ||||
| Disease ID | 479 |
|---|---|
| Disease | paroxysmal nocturnal hemoglobinuria |
| Definition | disorder characterized by intravascular hemolysis and hemoglobinuria; some cases occur on exposure to cold and are due to the presence of an autohemolysin in the serum; other cases are more marked during or immediately after sleep and are considered to be due to an acquired intracorpuscular defect. |
| Synonym | (haemoglobinuria: [march]) or (marchiafava-micheli syndrome) (haemoglobinuria: [march]) or (marchiafava-micheli syndrome) (disorder) (hemoglobinuria: [march]) or (marchiafava-micheli syndrome) hemoglobinuria, nocturnal paroxysmal hemoglobinuria, paroxysmal nocturnal hemoglobinuria, paroxysmal, nocturnal marchiafava - micheli syndrome marchiafava micheli disease marchiafava micheli syndrome marchiafava-micheli syndrome nocturnal paroxysmal hemoglobinuria parox. noct. haemoglobinuria parox. noct. hemoglobinuria paroxysmal hemoglobinuria, nocturnal paroxysmal noctural hemoglobinuria paroxysmal nocturnal haemoglobinuria paroxysmal nocturnal hemoglobinuria (disorder) paroxysmal nocturnal hemoglobinuria (pnh) pnh pnh - paroxysmal nocturnal haemoglobinuria pnh - paroxysmal nocturnal hemoglobinuria syndrome, marchiafava-micheli |
| Orphanet | |
| DOID | |
| UMLS | C0024790 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:40) C0040053 | thrombosis | 11 C0002871 | anemia | 7 C0002878 | hemolytic anemia | 4 C0002874 | aplastic anemia | 3 C0030312 | bone marrow failure | 3 C0002874 | aplastic anaemia | 2 C0002871 | anaemia | 2 C0022658 | kidney disease | 2 C0856761 | budd-chiari syndrome | 2 C0023418 | leukemia | 2 C0022661 | chronic kidney disease | 2 C0026986 | myelodysplastic syndrome | 1 C0020538 | hypertension | 1 C0022672 | acute tubular necrosis | 1 C0020542 | pulmonary hypertension | 1 C0022116 | ischemia | 1 C0042721 | hepatitis viral | 1 C0026764 | myeloma | 1 C0015645 | fasciitis | 1 C0282193 | iron overload | 1 C0023473 | chronic myeloid leukemia | 1 C0015624 | fanconi syndrome | 1 C0023470 | myeloid leukemia | 1 C0003507 | aortic stenosis | 1 C0034150 | purpura | 1 C0024141 | systemic lupus erythematosus | 1 C0023448 | lymphocytic leukemia | 1 C0024419 | waldenstrom macroglobulinemia | 1 C0026986 | myelodysplastic syndromes | 1 C0836924 | thrombocytosis | 1 C0002880 | autoimmune hemolytic anemia | 1 C0008350 | gallstones | 1 C0023434 | chronic lymphocytic leukemia | 1 C0024419 | macroglobulinemia | 1 C0040034 | thrombocytopenia | 1 C0029443 | osteomyelitis | 1 C0409974 | lupus erythematosus | 1 C0020532 | hypersplenism | 1 C0085650 | purpura fulminans | 1 C0026764 | multiple myeloma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:73) 310 | ANXA7 | 2.115 | DISEASES 716 | C1S | 1.96 | DISEASES 728 | C5AR1 | 1.479 | DISEASES 732 | C8B | 4.744 | DISEASES 914 | CD2 | 1.602 | DISEASES 959 | CD40LG | 1.102 | DISEASES 962 | CD48 | 4.581 | DISEASES 1043 | CD52 | 3.377 | DISEASES 965 | CD58 | 3.733 | DISEASES 966 | CD59 | 7.464 | DISEASES 1675 | CFD | 1.559 | DISEASES 1081 | CGA | 1.207 | DISEASES 1378 | CR1 | 3.435 | DISEASES 1379 | CR1L | 2.927 | DISEASES 1441 | CSF3R | 1.383 | DISEASES 51428 | DDX41 | 1.151 | DISEASES 10455 | ECI2 | 2.421 | DISEASES 2159 | F10 | 1.045 | DISEASES 2152 | F3 | 2.241 | DISEASES 2209 | FCGR1A | 3.266 | DISEASES 2214 | FCGR3A | 4.602 | DISEASES 2526 | FUT4 | 3.401 | DISEASES 2533 | FYB | 1.256 | DISEASES 2650 | GCNT1 | 1.383 | DISEASES 2811 | GP1BA | 1.123 | DISEASES 338328 | GPIHBP1 | 1.547 | DISEASES 2993 | GYPA | 3.295 | DISEASES 3105 | HLA-A | 1.233 | DISEASES 3112 | HLA-DOB | 1.014 | DISEASES 3123 | HLA-DRB1 | 1.389 | DISEASES 8091 | HMGA2 | 1.272 | DISEASES 3240 | HP | 3.139 | DISEASES 3683 | ITGAL | 1.759 | DISEASES 3717 | JAK2 | 1.77 | DISEASES 3718 | JAK3 | 1.006 | DISEASES 102723508 | KANTR | 1.163 | DISEASES 3804 | KIR2DL3 | 1.782 | DISEASES 3805 | KIR2DL4 | 1.683 | DISEASES 9365 | KL | 1.34 | DISEASES 3822 | KLRC2 | 1.287 | DISEASES 10288 | LILRB2 | 1.226 | DISEASES 4067 | LYN | 1.509 | DISEASES 4153 | MBL2 | 1.213 | DISEASES 8972 | MGAM | 1.037 | DISEASES 4478 | MSN | 1.294 | DISEASES 344022 | NOTO | 1.29 | DISEASES 51686 | OAZ3 | 2.409 | DISEASES 5277 | PIGA | 7.734 | DISEASES 93183 | PIGM | 3.209 | DISEASES 5328 | PLAU | 2.015 | DISEASES 5329 | PLAUR | 2.915 | DISEASES 5592 | PRKG1 | 1.55 | DISEASES 5688 | PSMA7 | 1.53 | DISEASES 5788 | PTPRC | 3.18 | DISEASES 399 | RHOH | 1.369 | DISEASES 80196 | RNF34 | 1.384 | DISEASES 6181 | RPLP2 | 1.26 | DISEASES 6288 | SAA1 | 2.47 | DISEASES 462 | SERPINC1 | 2.339 | DISEASES 6533 | SLC6A6 | 2.119 | DISEASES 10580 | SORBS1 | 1.43 | DISEASES 6693 | SPN | 1.371 | DISEASES 6776 | STAT5A | 1.012 | DISEASES 54790 | TET2 | 2.729 | DISEASES 7037 | TFRC | 2.035 | DISEASES 7056 | THBD | 1.311 | DISEASES 7124 | TNF | 1.169 | DISEASES 80128 | TRIM46 | 1.997 | DISEASES 7225 | TRPC6 | 1.265 | DISEASES 80328 | ULBP2 | 2.123 | DISEASES 11326 | VSIG4 | 1.87 | DISEASES 23038 | WDTC1 | 1.391 | DISEASES 7490 | WT1 | 1.948 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) PIGA | Xp22.2 |
| Disease ID | 479 |
|---|---|
| Disease | paroxysmal nocturnal hemoglobinuria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:55) C2707258 | infections C2700513 | aplastic anemia C1963220 | pulmonary hypertension C1963154 | renal failure C1963148 | iron overload C1883018 | severe aplastic anemia C1839611 | n syndrome C1660219 | analgesia C1516669 | clonal evolution C1000483 | anemia C0948008 | ischemic stroke C0856761 | budd-chiari syndrome C0795687 | cerebral thrombosis C0524702 | pulmonary thromboembolism C0517555 | venous thrombosis C0403447 | chronic kidney disease C0398623 | hypercoagulable state C0341697 | renal impairment C0338575 | superior sagittal sinus thrombosis C0272285 | heparin-induced thrombocytopenia C0272126 | evans' syndrome C0271001 | siderosis C0268067 | renal hemosiderosis C0265050 | vena cava thrombosis C0241950 | intestinal infarction C0235575 | hemolytic reaction C0235574 | intravascular hemolysis C0231243 | early complication C0155288 | papilledema C0151945 | cerebral venous thrombosis C0151942 | arterial thrombosis C0040053 | thrombosis C0040038 | thromboembolism C0040034 | thrombocytopenia C0037284 | skin lesions C0037198 | sinus thrombosis C0035012 | reiter's disease C0034150 | purpura C0033626 | protein deficiencies C0030312 | bone marrow failure C0027051 | myocardial infarction C0023501 | leukemoid reaction C0023467 | acute myeloblastic leukemia C0022660 | acute renal failure C0022658 | renal disorders C0021843 | intestinal obstruction C0021308 | infarction C0019158 | hepatitis C0019154 | hepatic vein thrombosis C0012739 | disseminated intravascular coagulation C0010072 | coronary artery thrombosis C0008350 | cholelithiasis C0008311 | cholangitis C0002874 | aplastic anaemia C0000737 | abdominal pain |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:16) C0040053 | thrombosis | 11 C0002871 | anemia | 7 C0002874 | aplastic anemia | 3 C0030312 | bone marrow failure | 3 C0042487 | venous thrombosis | 3 C0002871 | anaemia | 2 C0002874 | aplastic anaemia | 2 C0856761 | budd-chiari syndrome | 2 C0235574 | intravascular hemolysis | 2 C0022661 | chronic kidney disease | 2 C0272285 | heparin-induced thrombocytopenia | 1 C0085650 | purpura fulminans | 1 C0020542 | pulmonary hypertension | 1 C0040034 | thrombocytopenia | 1 C0151945 | cerebral venous thrombosis | 1 C0282193 | iron overload | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs397514767 | 25818314 | 5277 | PIGA | umls:C0024790 | BeFree | Paroxysmal nocturnal hemoglobinuria (PNH) and primary p.Cys89Tyr mutation in CD59: Differences and similarities. | 0.154201676 | 2015 | CD59 | 11 | 33710247 | C | T |
| rs397514767 | 25818314 | 966 | CD59 | umls:C0024790 | BeFree | Paroxysmal nocturnal hemoglobinuria (PNH) and primary p.Cys89Tyr mutation in CD59: Differences and similarities. | 0.007871814 | 2015 | CD59 | 11 | 33710247 | 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:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001915 | Aplastic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
| HP:0004808 | Acute myeloid leukemia | MP:0013663 | increased myeloid cell number | greater than the expected number of cells of the myeloid lineage |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0012211 | Abnormal renal physiology | MP:0011682 | renal glomerulus cysts | abnormal membranous sacs in any portion of the renal glomerulus |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0001892 | Abnormal bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| 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 |
| HP:0005528 | Bone marrow hypocellularity | MP:0013414 | decreased myeloid cell number in bone marrow | reduction in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow |
Mapped by homologous gene(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001907 | Thromboembolism | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0001876 | Pancytopenia | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0100724 | Hypercoagulability | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001977 | Abnormal thrombosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0004808 | Acute myeloid leukemia | MP:0014130 | thymus cysts | presence of fluid-filled spaces lined by epithelium within the thymus; thymic cysts are rare mediastinal lesions and are thought to result from the congenital persistence of thymopharyngeal tracts and acquired, progressive cystic degeneration of thymic (H |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001915 | Aplastic anemia | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0002326 | Transient ischemic attack | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0001892 | Abnormal bleeding | MP:0020138 | delayed bone mineralization | late onset of the process by which minerals are deposited into bone |
| HP:0002863 | Myelodysplasia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0005528 | Bone marrow hypocellularity | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0000980 | Pallor | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0002204 | Pulmonary embolism | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0001681 | Angina pectoris | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012211 | Abnormal renal physiology | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| Disease ID | 479 |
|---|---|
| Disease | paroxysmal nocturnal hemoglobinuria |
| Case | (Waiting for update.) |