PedAM

Pediatric Disease Annotations & Medicines


	paroxysmal nocturnal hemoglobinuria

Disease ID	288
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	ORPHANET:447
DOID	DOID:0060284
UMLS	C0024790
SNOMED-CT	SNOMEDCT_US_2016_09_01:1963002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:32) C0040053 \| thrombosis \| 8 C0002871 \| anemia \| 7 C0002878 \| hemolytic anemia \| 4 C0030312 \| bone marrow failure \| 3 C0002874 \| aplastic anemia \| 3 C0022658 \| kidney disease \| 2 C0856761 \| budd-chiari syndrome \| 2 C0023418 \| leukemia \| 2 C0022661 \| chronic kidney disease \| 2 C0022116 \| ischemia \| 1 C0023473 \| chronic myeloid leukemia \| 1 C0003507 \| aortic stenosis \| 1 C0026986 \| myelodysplastic syndromes \| 1 C0026764 \| myeloma \| 1 C0023434 \| chronic lymphocytic leukemia \| 1 C0040034 \| thrombocytopenia \| 1 C0026986 \| myelodysplastic syndrome \| 1 C0020532 \| hypersplenism \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0026764 \| multiple myeloma \| 1 C0002880 \| autoimmune hemolytic anemia \| 1 C0042721 \| hepatitis viral \| 1 C0008350 \| gallstones \| 1 C0282193 \| iron overload \| 1 C0015624 \| fanconi syndrome \| 1 C0022672 \| acute tubular necrosis \| 1 C0409974 \| lupus erythematosus \| 1 C0023448 \| lymphocytic leukemia \| 1 C0029443 \| osteomyelitis \| 1 C0836924 \| thrombocytosis \| 1 C0023470 \| myeloid leukemia \| 1 C0015645 \| fasciitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) PIGA \| 5277 \| ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:135) 6344 \| SCTR \| DISEASES 51564 \| HDAC7 \| DISEASES 9488 \| PIGB \| DISEASES 6128 \| RPL6 \| DISEASES 5283 \| PIGH \| DISEASES 63035 \| BCORL1 \| DISEASES 166 \| AES \| DISEASES 727 \| C5 \| DISEASES 1440 \| CSF3 \| DISEASES 7448 \| VTN \| DISEASES 952 \| CD38 \| DISEASES 173 \| AFM \| DISEASES 4254 \| KITLG \| DISEASES 420 \| ART4 \| DISEASES 3458 \| IFNG \| DISEASES 80329 \| ULBP1 \| DISEASES 11126 \| CD160 \| DISEASES 6402 \| SELL \| DISEASES 1088 \| CEACAM8 \| DISEASES 718 \| C3 \| DISEASES 5199 \| CFP \| DISEASES 9526 \| MPDU1 \| DISEASES 2056 \| EPO \| DISEASES 5279 \| PIGC \| DISEASES 3569 \| IL6 \| DISEASES 4836 \| NMT1 \| DISEASES 7450 \| VWF \| DISEASES 8482 \| SEMA7A \| DISEASES 5939 \| RBMS2 \| DISEASES 945 \| CD33 \| DISEASES 10483 \| SEC23B \| DISEASES 3249 \| HPN \| DISEASES 6403 \| SELP \| DISEASES 2651 \| GCNT2 \| DISEASES 683 \| BST1 \| DISEASES 10923 \| SUB1 \| DISEASES 3263 \| HPX \| DISEASES 2212 \| FCGR2A \| DISEASES 710 \| SERPING1 \| DISEASES 51604 \| PIGT \| DISEASES 5281 \| PIGF \| DISEASES 135228 \| CD109 \| DISEASES 114757 \| CYGB \| DISEASES 6777 \| STAT5B \| DISEASES 2215 \| FCGR3B \| DISEASES 308 \| ANXA5 \| DISEASES 3562 \| IL3 \| DISEASES 1437 \| CSF2 \| DISEASES 11318 \| GPR182 \| DISEASES 5724 \| PTAFR \| DISEASES 51523 \| CXXC5 \| DISEASES 43 \| ACHE \| DISEASES 929 \| CD14 \| DISEASES 29984 \| RHOD \| DISEASES 5340 \| PLG \| DISEASES 947 \| CD34 \| DISEASES 4179 \| CD46 \| DISEASES 5187 \| PER1 \| DISEASES 10859 \| LILRB1 \| DISEASES 1604 \| CD55 \| DISEASES 51301 \| GCNT4 \| DISEASES 4684 \| NCAM1 \| DISEASES 6181 \| RPLP2 \| DISEASES 716 \| C1S \| DISEASES 338328 \| GPIHBP1 \| DISEASES 2811 \| GP1BA \| DISEASES 7490 \| WT1 \| DISEASES 1675 \| CFD \| DISEASES 2152 \| F3 \| DISEASES 80128 \| TRIM46 \| DISEASES 5329 \| PLAUR \| DISEASES 3805 \| KIR2DL4 \| DISEASES 966 \| CD59 \| DISEASES 7225 \| TRPC6 \| DISEASES 6776 \| STAT5A \| DISEASES 3804 \| KIR2DL3 \| DISEASES 728 \| C5AR1 \| DISEASES 3240 \| HP \| DISEASES 6288 \| SAA1 \| DISEASES 3683 \| ITGAL \| DISEASES 2526 \| FUT4 \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 7037 \| TFRC \| DISEASES 6693 \| SPN \| DISEASES 4478 \| MSN \| DISEASES 2993 \| GYPA \| DISEASES 6533 \| SLC6A6 \| DISEASES 10580 \| SORBS1 \| DISEASES 23038 \| WDTC1 \| DISEASES 1378 \| CR1 \| DISEASES 80328 \| ULBP2 \| DISEASES 5788 \| PTPRC \| DISEASES 462 \| SERPINC1 \| DISEASES 2214 \| FCGR3A \| DISEASES 962 \| CD48 \| DISEASES 93183 \| PIGM \| DISEASES 2209 \| FCGR1A \| DISEASES 914 \| CD2 \| DISEASES 965 \| CD58 \| DISEASES 1081 \| CGA \| DISEASES 959 \| CD40LG \| DISEASES 5688 \| PSMA7 \| DISEASES 732 \| C8B \| DISEASES 5328 \| PLAU \| DISEASES 310 \| ANXA7 \| DISEASES 1441 \| CSF3R \| DISEASES 4153 \| MBL2 \| DISEASES 5592 \| PRKG1 \| DISEASES 1043 \| CD52 \| DISEASES 11326 \| VSIG4 \| DISEASES 2159 \| F10 \| DISEASES 2650 \| GCNT1 \| DISEASES 3105 \| HLA-A \| DISEASES 7056 \| THBD \| DISEASES 54790 \| TET2 \| DISEASES 9365 \| KL \| DISEASES 10455 \| ECI2 \| DISEASES 5277 \| PIGA \| DISEASES 3717 \| JAK2 \| DISEASES 399 \| RHOH \| DISEASES 3822 \| KLRC2 \| DISEASES 10288 \| LILRB2 \| DISEASES 80196 \| RNF34 \| DISEASES 344022 \| NOTO \| DISEASES 8091 \| HMGA2 \| DISEASES 3112 \| HLA-DOB \| DISEASES 3718 \| JAK3 \| DISEASES 7124 \| TNF \| DISEASES 51686 \| OAZ3 \| DISEASES 1379 \| CR1L \| DISEASES 51428 \| DDX41 \| DISEASES 2533 \| FYB \| DISEASES 4067 \| LYN \| DISEASES 8972 \| MGAM \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) PIGA \| Xp22.2

Disease ID	288
Disease	paroxysmal nocturnal hemoglobinuria
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:24) HP:0000980 \| Pallor HP:0001915 \| Aplastic anemia HP:0001324 \| Muscle weakness HP:0002015 \| Dysphagia HP:0002092 \| Pulmonary arterial hypertension HP:0005528 \| Bone marrow hypocellularity HP:0012211 \| Abnormal renal physiology HP:0001878 \| Hemolytic anemia HP:0003641 \| Hemoglobinuria HP:0100724 \| Hypercoagulability HP:0001907 \| Thromboembolism HP:0001892 \| Abnormal bleeding HP:0001876 \| Pancytopenia HP:0001977 \| Abnormal thrombosis HP:0001908 \| Hypoplastic anemia HP:0002204 \| Pulmonary embolism HP:0012378 \| Fatigue HP:0002863 \| Myelodysplasia HP:0004808 \| Acute myeloid leukemia HP:0002326 \| Transient ischemic attack HP:0012492 \| Cerebral artery stenosis HP:0001658 \| Myocardial infarction HP:0001681 \| Angina pectoris HP:0002027 \| Abdominal pain
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:30) HP:0001903 \| Anemia \| 7 HP:0001878 \| Haemolytic anaemia \| 4 HP:0001915 \| Aplastic anemia \| 3 HP:0005528 \| Bone marrow hypoplasia \| 3 HP:0004936 \| Blood clot in vein \| 3 HP:0012622 \| Chronic kidney disease \| 2 HP:0002639 \| Budd-Chiari syndrome \| 2 HP:0001909 \| Leukemia \| 2 HP:0005550 \| Chronic lymphatic leukemia \| 1 HP:0001894 \| Thrombocytosis \| 1 HP:0008682 \| Renal tubular necrosis \| 1 HP:0012393 \| Allergy \| 1 HP:0005506 \| Chronic myeloid leukemia \| 1 HP:0001081 \| Gallstones \| 1 HP:0005305 \| Cerebral vein thrombosis \| 1 HP:0030247 \| Blood clot in splanchnic vein \| 1 HP:0001890 \| Autoimmune hemolytic anemia \| 1 HP:0002754 \| Bone infection \| 1 HP:0004870 \| hemolytic anemia, chronic \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0001873 \| Low platelet count \| 1 HP:0002863 \| Myelodysplastic syndrome \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0001971 \| Hypersplenism \| 1 HP:0007626 \| Osteomyelitis, especially of the mandible \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0100537 \| Inflammation of the fascia \| 1 HP:0011874 \| Heparin-induced thrombocytopenia \| 1 HP:0045029 \| Eosinophilic fasciitis \| 1 HP:0001650 \| Valvular aortic stenosis \| 1

Disease ID	288
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:12) C0040053 \| thrombosis \| 8 C0002871 \| anemia \| 7 C0042487 \| venous thrombosis \| 3 C0002874 \| aplastic anemia \| 3 C0030312 \| bone marrow failure \| 3 C0856761 \| budd-chiari syndrome \| 2 C0022661 \| chronic kidney disease \| 2 C0235574 \| intravascular hemolysis \| 2 C0040034 \| thrombocytopenia \| 1 C0282193 \| iron overload \| 1 C0151945 \| cerebral venous thrombosis \| 1 C0272285 \| heparin-induced thrombocytopenia \| 1

Manually Genotype(Total Text Mining 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)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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