PNH
MCID: PRX003
MIFTS: 62

Paroxysmal Nocturnal Hemoglobinuria (PNH) malady

Categories: Rare diseases, Immune diseases, Blood diseases, Metabolic diseases, Nephrological diseases, Genetic diseases

Aliases & Classifications for Paroxysmal Nocturnal Hemoglobinuria

Aliases & Descriptions for Paroxysmal Nocturnal Hemoglobinuria:

Name: Paroxysmal Nocturnal Hemoglobinuria 38 12 50 25 56 29 14 69
Marchiafava-Micheli Disease 50 56
Hemoglobinuria, Paroxysmal 25 42
Pnh 50 56
Paroxysmal Hemoglobinuria Nocturnal 52
Marchiafava-Micheli Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
paroxysmal nocturnal hemoglobinuria
Prevalence: 1-9/1000000 (United Kingdom),1-9/100000 (United Kingdom); Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060284
MeSH 42 D006457
NCIt 47 C61233
Orphanet 56 ORPHA447
MESH via Orphanet 43 D006457
UMLS via Orphanet 70 C0024790
ICD10 via Orphanet 34 D59.5

Summaries for Paroxysmal Nocturnal Hemoglobinuria

NIH Rare Diseases : 50 paroxysmal nocturnal hemoglobinuria (pnh) is an acquired disorder that leads to the premature death and impaired production of blood cells. it can occur at any age, but is usually diagnosed in young adulthood. people with pnh have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. this results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. people with pnh may also be prone to infections and abnormal blood clotting (thrombosis) or hemorrhage, and are at increased risk of developing leukemia. it is caused by acquired, rather than inherited, mutations in the piga gene; the condition is not passed down to children of affected individuals. sometimes, people who have been treated for aplastic anemia may develop pnh. the treatment of pnh is largely based on symptoms; stem cell transplantation is typically reserved for severe cases of pnh with aplastic anemia or those whose develop leukemia. last updated: 1/15/2011

MalaCards based summary : Paroxysmal Nocturnal Hemoglobinuria, also known as marchiafava-micheli disease, is related to paroxysmal nocturnal hemoglobinuria, somatic and paroxysmal nocturnal hemoglobinuria 2, and has symptoms including fatigue, angina pectoris and abdominal pain. An important gene associated with Paroxysmal Nocturnal Hemoglobinuria is PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A), and among its related pathways/superpathways are Innate Immune System and Toxoplasmosis. The drugs Cyclophosphamide and Cyclosporine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, and related phenotypes are hematopoietic system and immune system

Genetics Home Reference : 25 Paroxysmal nocturnal hemoglobinuria is an acquired disorder that leads to the premature death and impaired production of blood cells. The disorder affects red blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), which protect the body from infection; and platelets (thrombocytes), which are involved in blood clotting. Paroxysmal nocturnal hemoglobinuria affects both sexes equally, and can occur at any age, although it is most often diagnosed in young adulthood.

Wikipedia : 71 Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, life-threatening disease of the blood... more...

Related Diseases for Paroxysmal Nocturnal Hemoglobinuria

Diseases in the Paroxysmal Nocturnal Hemoglobinuria family:

Paroxysmal Nocturnal Hemoglobinuria 2

Diseases related to Paroxysmal Nocturnal Hemoglobinuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
id Related Disease Score Top Affiliating Genes
1 paroxysmal nocturnal hemoglobinuria, somatic 12.6
2 paroxysmal nocturnal hemoglobinuria 2 12.5
3 paroxysmal cold hemoglobinuria 11.4
4 hemoglobinuria 11.3
5 aplastic anemia 10.7
6 thrombosis 10.6
7 budd-chiari syndrome 10.5
8 leukemia 10.5
9 myelodysplastic syndrome 10.4
10 thrombocytopenia 10.4
11 cerebritis 10.4
12 hematopoietic stem cell transplantation 10.2
13 heparin-induced thrombocytopenia 10.2
14 retinitis 10.2
15 hemolytic anemia 10.2
16 hepatitis 10.2
17 hemosiderosis 10.2
18 mental retardation, x-linked, snyder-robinson type 10.2 CD55 CD59 PIGA
19 periventricular heterotopia with microcephaly 10.1 CD55 CD59 PIGT
20 common cold 10.1 PLAU PLAUR
21 inherited bone marrow failure syndromes 10.1
22 myelofibrosis 10.1
23 neutropenia 10.1
24 pancytopenia 10.1
25 multiple myeloma 10.1
26 lymphoma 10.1
27 fasciitis 10.1
28 hepatorenal syndrome 10.1 PLAU PLAUR
29 lung combined large cell neuroendocrine carcinoma 10.1 CD55 CD59 HP
30 acro coxo mesomelic dysplasia 10.0 C3 HP
31 muscular dystrophy limb girdle type 2a, erb type 10.0 CD55 CD59 PIGA PIGT
32 acute leukemia 10.0
33 papilledema 10.0
34 sickle cell disease 10.0
35 chronic lymphocytic leukemia 10.0
36 lymphoblastic leukemia 10.0
37 fanconi syndrome 10.0
38 myeloproliferative neoplasm 10.0
39 systemic lupus erythematosus 10.0
40 autoimmune hemolytic anemia 10.0
41 splenic infarction 10.0
42 antiphospholipid syndrome 10.0
43 hodgkin lymphoma 10.0
44 ischemia 10.0
45 duodenitis 10.0
46 retinal vein occlusion 10.0
47 hemolytic-uremic syndrome 10.0
48 thymoma 10.0
49 myeloid leukemia 10.0
50 purpura 10.0

Graphical network of the top 20 diseases related to Paroxysmal Nocturnal Hemoglobinuria:



Diseases related to Paroxysmal Nocturnal Hemoglobinuria

Symptoms & Phenotypes for Paroxysmal Nocturnal Hemoglobinuria

Human phenotypes related to Paroxysmal Nocturnal Hemoglobinuria:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Occasional (29-5%) HP:0012378
2 angina pectoris 56 32 Occasional (29-5%) HP:0001681
3 abdominal pain 56 32 Occasional (29-5%) HP:0002027
4 muscle weakness 56 32 Occasional (29-5%) HP:0001324
5 dysphagia 56 32 Occasional (29-5%) HP:0002015
6 hemolytic anemia 56 32 Very frequent (99-80%) HP:0001878
7 thromboembolism 56 32 Frequent (79-30%) HP:0001907
8 bone marrow hypocellularity 56 32 Frequent (79-30%) HP:0005528
9 hypercoagulability 56 32 Frequent (79-30%) HP:0100724
10 pallor 56 32 Occasional (29-5%) HP:0000980
11 myocardial infarction 56 32 Occasional (29-5%) HP:0001658
12 abnormal bleeding 56 32 Occasional (29-5%) HP:0001892
13 hypoplastic anemia 56 32 Occasional (29-5%) HP:0001908
14 aplastic anemia 56 32 Occasional (29-5%) HP:0001915
15 pulmonary embolism 56 32 Occasional (29-5%) HP:0002204
16 transient ischemic attack 56 32 Occasional (29-5%) HP:0002326
17 myelodysplasia 56 32 Occasional (29-5%) HP:0002863
18 hemoglobinuria 56 32 Occasional (29-5%) HP:0003641
19 abnormal renal physiology 56 32 Occasional (29-5%) HP:0012211
20 cerebral artery stenosis 56 32 Occasional (29-5%) HP:0012492
21 acute myeloid leukemia 56 32 Very rare (<4-1%) HP:0004808
22 pancytopenia 56 Very frequent (99-80%)
23 abnormal thrombosis 56 Occasional (29-5%)
24 pulmonary hypertension 56 Occasional (29-5%)
25 pulmonary arterial hypertension 32 HP:0002092

MGI Mouse Phenotypes related to Paroxysmal Nocturnal Hemoglobinuria:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.81 C3 CD14 CD55 CD59 FCGR3B HP
2 immune system MP:0005387 9.56 C3 C5 CD14 FCGR3B GFRA1 HP
3 renal/urinary system MP:0005367 9.1 C3 C5 CD59 GFRA1 HP PLAUR

Drugs & Therapeutics for Paroxysmal Nocturnal Hemoglobinuria

Drugs for Paroxysmal Nocturnal Hemoglobinuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 103)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
2
Cyclosporine Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
3
Fludarabine Approved Phase 3,Phase 2,Phase 1,Early Phase 1 21679-14-1, 75607-67-9 30751
4
Methotrexate Approved Phase 3,Phase 2 1959-05-2, 59-05-2 126941
5
Thiotepa Approved Phase 3,Phase 2,Phase 1 52-24-4 5453
6
rituximab Approved Phase 3,Phase 2 174722-31-7 10201696
7 Alkylating Agents Phase 3,Phase 2,Phase 1,Early Phase 1
8 Antilymphocyte Serum Phase 3,Phase 2
9 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Early Phase 1
10 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
11 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1
12
Iodine Phase 3 7553-56-2 807
13 Antibodies Phase 3,Phase 2
14 Immunoglobulins Phase 3,Phase 2
15 Muromonab-CD3 Phase 3,Phase 2
16 Antimetabolites Phase 3,Phase 2,Phase 1,Early Phase 1
17 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Early Phase 1
18 Complement Inactivating Agents Phase 3,Phase 1,Phase 2
19 Complement System Proteins Phase 3,Phase 2,Phase 1
20
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
21
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
22
Melphalan Approved Phase 2,Phase 1 148-82-3 4053 460612
23
Lenograstim Approved Phase 2 135968-09-1
24
Busulfan Approved, Investigational Phase 2,Early Phase 1 55-98-1 2478
25
Mechlorethamine Approved Phase 2 51-75-2 4033
26
Basiliximab Approved, Investigational Phase 2 152923-56-3, 179045-86-4
27
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
28
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
29
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
30
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
31
Vidarabine Approved Phase 1, Phase 2, Early Phase 1 24356-66-9 32326 21704
32
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
33
Mesna Approved Phase 2 3375-50-6 598
34
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
35
Abatacept Approved Phase 1, Phase 2 332348-12-6 10237
36
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
37
Acetaminophen Approved Phase 2 103-90-2 1983
38
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
39
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
40
Promethazine Approved Phase 2 60-87-7 4927
41
Nandrolone Approved, Experimental, Illicit Phase 1, Phase 2 434-22-0, 62-90-8 9904 229455
42
Nandrolone decanoate Approved, Illicit Phase 1, Phase 2 360-70-3 9677
43
Everolimus Approved Phase 2 159351-69-6 6442177
44
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
45
Etoposide Approved Phase 2 33419-42-0 36462
46
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
47 tannic acid Approved, Nutraceutical Phase 2
48
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
49
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
50
decanoic acid Experimental Phase 1, Phase 2 334-48-5 2969

Interventional clinical trials:

(show top 50) (show all 94)
id Name Status NCT ID Phase
1 Eculizumab Pharmacokinetics/Pharmacodynamics Study in Pediatric/Adolescent PNH Subjects Completed NCT00867932 Phase 4
2 The Paroxysmal Nocturnal Hemoglobinuria Early Access Treatment Protocol Approved for marketing NCT00438789 Phase 3
3 Eculizumab to Treat Paroxysmal Nocturnal Hemoglobinuria Completed NCT00098280 Phase 3
4 Study Using Eculizumab in Transfusion Dependent Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients Completed NCT00122330 Phase 3
5 Study of Safety in Hemolytic Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients Treated With Eculizumab Completed NCT00122304 Phase 3
6 Eculizumab to Treat Paroxysmal Nocturnal Hemoglobinuria Completed NCT00130000 Phase 3
7 Extension Study of Eculizumab in Patients With Transfusion Dependent Paroxysmal Nocturnal Hemoglobinuria (PNH) Completed NCT00122317 Phase 3
8 Eculizumab in Treating Patients With Paroxysmal Nocturnal Hemoglobinuria Completed NCT00112983 Phase 3
9 Stem Cell Transplantation for Patients With Hematologic Malignancies Completed NCT00152139 Phase 3
10 Haploidentical Stem Cell Transplantation for Patients With Hematologic Malignancies Completed NCT00186823 Phase 3
11 Comparison of Cy-Atg Vs Cy-Flu-Atg for the Conditioning Therapy in Allo-HCT Completed NCT00774527 Phase 3
12 ALXN1210 Versus Eculizumab in Complement Inhibitor Treatment-Naïve Adult Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT02946463 Phase 3
13 The Impact of Red Cell Age on Product Utilization in the Chronically Transfused Outpatient Population Enrolling by invitation NCT02393508 Phase 3
14 ALXN1210 Versus Eculizumab in Adult Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Currently Treated With Eculizumab Not yet recruiting NCT03056040 Phase 3
15 Eltrombopag for Enhancing Platelet Engraftment in Adult Patients Undergoing Cord Blood Transplantation Unknown status NCT01757145 Phase 2
16 An Open Label Study of the Effects of Eculizumab in CD59 Deficiency Unknown status NCT01579838 Phase 1, Phase 2
17 Alemtuzumab and Low-Dose Cyclosporine in Treating Patients With Severe Aplastic Anemia or Acquired Marrow Failure Unknown status NCT00895739 Phase 2
18 Peripheral Blood Stem Cell Transplantation (PBSCT)From Haploidentical Related Donors Completed NCT00618969 Phase 2
19 E07-001: Safety and Efficacy Extension Study of Eculizumab in Paroxysmal Nocturnal Hemoglobinuria Patients Completed NCT01194804 Phase 2
20 C07-001: Safety and Efficacy Study of Eculizumab in Paroxysmal Nocturnal Hemoglobinuria Patients Completed NCT01192399 Phase 2
21 Reduced Intensity Allogeneic PBSCT to Treat Hematologic Malignancies and Hematopoietic Failure States Completed NCT00997386 Phase 2
22 Basiliximab #2: In-Vivo Activated T-Cell Depletion to Prevent Graft-Versus_Host Disease (GVHD) After Nonmyeloablative Allotransplantation for the Treatment of Blood Cancer Completed NCT00975975 Phase 2
23 Reduced Intensity Conditioning Using CD3+/CD19+ Depletion for Non Malignant Transplantable Diseases Completed NCT02277639 Phase 2
24 Donor Stem Cell Transplant After Busulfan, Fludarabine, Methylprednisolone, and Antithymocyte Globulin in Treating Patients With Bone Marrow Failure Syndrome Completed NCT00731328 Phase 2
25 Trial of Allogeneic Stem Cell Transplants From HLA Compatible, Related and Unrelated Donors After a Myeloablative Preparative Regimen With Hyperfractionated TBI, Thiotepa and Fludarabine For Adult Patients With Lymphohematopoietic Disorders Completed NCT00587054 Phase 2
26 Allogeneic Mixed Chimerism Stem Cell Transplant Using Campath for Hemoglobinopathies & Bone Marrow Failure Syndromes Completed NCT00004143 Phase 2
27 Stem Cell Transplantation as Immunotherapy for Hematologic Malignancies Completed NCT00143559 Phase 2
28 Haploidentical Stem Cell Transplant for Treatment Refractory Hematological Malignancies Completed NCT00145613 Phase 2
29 Memory T-cell Infusion to Improve Immunity After TCR-alpha/Beta Depleted Hematopoietic Stem Cell Transplantation Completed NCT02337595 Phase 1, Phase 2
30 Rabbit Antithymocyte Globulin Versus Campath-1H for Treating Severe Aplastic Anemia Completed NCT00065260 Phase 2
31 A Pilot Study of Fludarabine Plus Cyclophosphamide in Refractory Severe Aplastic Anemia Completed NCT01187017 Phase 1, Phase 2
32 Study to Assess Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of RO7112689 in Healthy Volunteers and Participants With Paroxysmal Nocturnal Hemoglobinuria Recruiting NCT03157635 Phase 1, Phase 2
33 Coversin in Paroxysmal Nocturnal Haemoglobinuria (PNH) Recruiting NCT02591862 Phase 2
34 A Treatment Study of ACH-0144471 in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT03053102 Phase 2
35 Proof of Concept Study to Assess the Efficacy, Safety and Pharmacokinetics of LFG316 in Patients With Paroxysmal Nocturnal Hemoglobinuria Recruiting NCT02534909 Phase 2
36 Phase 2 Safety and Efficacy Study of RA101495 to Treat PNH Patients Who Have an Inadequate Response to Eculizumab Recruiting NCT03030183 Phase 2
37 Phase 2 Safety and Efficacy Study of RA101495 to Treat PNH Patients Recruiting NCT03078582 Phase 2
38 Treosulfan-based Versus Busulfan-based Conditioning in Paediatric Patients With Non-malignant Diseases Recruiting NCT02349906 Phase 2
39 Transplantation of Partially Mismatched Related or Matched Unrelated Bone Marrow for Patients With Refractory Severe Aplastic Anemia Recruiting NCT02224872 Phase 2
40 Allogeneic Hematopoietic Stem Cell Transplantation for Severe Aplastic Anemia and Other Bone Marrow Failure Syndromes Using G-CSF Mobilized CD34+ Selected Hematopoietic Precursor Cells Co-Infused With a Reduced Dose of Non-Mobilized Donor T-cells Recruiting NCT01174108 Phase 2
41 Reduced Intensity Conditioning and Familial HLA-Mismatched BMT for Non-Malignant Disorders Recruiting NCT03128996 Phase 1, Phase 2
42 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
43 Nandrolone Decanoate in the Treatment of Telomeropathies Recruiting NCT02055456 Phase 1, Phase 2
44 UCB Transplant for Hematological Diseases Using a Non Myeloablative Prep Recruiting NCT02722668 Phase 2
45 Trial of Haploidentical Stem Cell Transplantation for Haematological Cancers Recruiting NCT01597219 Phase 2
46 Specialized Blood Cell Transplants for Cancers of the Blood and Bone Marrow Recruiting NCT00003838 Phase 2
47 An Open-Label, Intrapatient, Dose-Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of ALXN1210 Administered Intravenously to Patients With Paroxysmal Nocturnal Hemoglobinuria Active, not recruiting NCT02598583 Phase 1, Phase 2
48 A Open-label, Multiple Ascending Dose Study to Evaluate the Efficacy, Safety, Tolerability, Immunogenicity, Pharmacokinetics, and Pharmacodynamics of ALXN1210 Administered Intravenously to Patients With Paroxysmal Nocturnal Hemoglobinuria Active, not recruiting NCT02605993 Phase 2
49 A Phase 1/2 Study of an Investigational Drug, ALN-CC5, in Healthy Adult Volunteers and Patients With PNH Active, not recruiting NCT02352493 Phase 1, Phase 2
50 Safety and Efficacy of Levamisole Combined With Cyclosporine A in Patients With Classic Paroxysmal Nocturnal Hemoglobinuria Active, not recruiting NCT01642979 Phase 2

Search NIH Clinical Center for Paroxysmal Nocturnal Hemoglobinuria

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Paroxysmal Nocturnal Hemoglobinuria cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Paroxysmal Nocturnal Hemoglobinuria:
Hemacord
Embryonic/Adult Cultured Cells Related to Paroxysmal Nocturnal Hemoglobinuria:
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD PMIDs: 9828244

Cochrane evidence based reviews: hemoglobinuria, paroxysmal

Genetic Tests for Paroxysmal Nocturnal Hemoglobinuria

Genetic tests related to Paroxysmal Nocturnal Hemoglobinuria:

id Genetic test Affiliating Genes
1 Paroxysmal Nocturnal Hemoglobinuria 29

Anatomical Context for Paroxysmal Nocturnal Hemoglobinuria

MalaCards organs/tissues related to Paroxysmal Nocturnal Hemoglobinuria:

39
Bone, Bone Marrow, Heart, Skin, T Cells, Testes, Neutrophil

Publications for Paroxysmal Nocturnal Hemoglobinuria

Articles related to Paroxysmal Nocturnal Hemoglobinuria:

(show top 50) (show all 712)
id Title Authors Year
1
Paroxysmal nocturnal hemoglobinuria with spontaneous clinical remission. ( 28528998 )
2017
2
Fluorescent Aerolysin (FLAER)-based paroxysmal nocturnal hemoglobinuria (PNH) screening: a single center experience from India. ( 28432724 )
2017
3
Risitano AM, Ricklin D, Huang Y, et al. Peptide inhibitors of C3 activation as a novel strategy of complement inhibition for the treatment of paroxysmal nocturnal hemoglobinuria. Blood. 2014;123(13):2094-2101. ( 28408428 )
2017
4
Serologic response to meningococcal vaccination in patients with paroxysmal nocturnal hemoglobinuria (PNH) chronically treated with the terminal complement inhibitor eculizumab. ( 28124080 )
2017
5
Paroxysmal Nocturnal Hemoglobinuria in the Differential Diagnosis of Thrombocytopenia. ( 28435653 )
2017
6
Development of a disease-specific quality of life questionnaire for patients with aplastic anemia and/or paroxysmal nocturnal hemoglobinuria (QLQ-AA/PNH)-report on phases I and II. ( 27837250 )
2017
7
Paroxysmal nocturnal hemoglobinuria clones are not infrequent in patients with inherited bone marrow failure syndromes. ( 28452421 )
2017
8
A retrospective study of paroxysmal nocturnal hemoglobinuria in pediatric and adolescent patients. ( 28380398 )
2017
9
Multicenter validation of a simplified method for paroxysmal nocturnal hemoglobinuria screening. ( 28332730 )
2017
10
Clinical course and disease burden in patients with paroxysmal nocturnal hemoglobinuria by hemolytic status. ( 28437723 )
2017
11
Paroxysmal Nocturnal Hemoglobinuria in a Case of Chronic Anemia. ( 28527178 )
2017
12
Management of thrombosis in paroxysmal nocturnal hemoglobinuria: a clinician's guide. ( 28246555 )
2017
13
Deep sequencing of whole genome exon in paroxysmal nocturnal hemoglobinuria. ( 28124384 )
2017
14
Retinal vein occlusion and paroxysmal nocturnal hemoglobinuria. ( 28447244 )
2017
15
Atypical presentation of paroxysmal nocturnal hemoglobinuria treated by eculizumab: A case report. ( 28328837 )
2017
16
Role of kidney MRI to monitoring clearance of hemosiderin deposits in paroxysmal nocturnal hemoglobinuria. ( 28434706 )
2017
17
Haploidentical hematopoietic stem cell transplant in paroxysmal nocturnal hemoglobinuria. ( 26911378 )
2016
18
Eculizumab Dosing Intervals Longer than 17 Days May Be Associated with Greater Risk of Breakthrough Hemolysis in Patients with Paroxysmal Nocturnal Hemoglobinuria. ( 26830487 )
2016
19
Pathogenesis of paroxysmal nocturnal hemoglobinuria. ( 27725586 )
2016
20
Paroxysmal Nocturnal Hemoglobinuria: From Bench to Bed. ( 27812245 )
2016
21
Update on the diagnosis and management of paroxysmal nocturnal hemoglobinuria. ( 27913482 )
2016
22
Pregnancy outcomes of patients with paroxysmal nocturnal hemoglobinuria treated with eculizumab: a Japanese experience and updated review. ( 26857155 )
2016
23
Different clinical characteristics of paroxysmal nocturnal hemoglobinuria in pediatric and adult patients. ( 27884975 )
2016
24
An unusual association of paroxysmal nocturnal hemoglobinuria, myelodysplastic syndrome, and diffuse large B-cell non-Hodgkin lymphoma in a Caucasian man. ( 27324258 )
2016
25
Genetic variants of C5 and polymorphisms of C3 in Chinese patients with paroxysmal nocturnal hemoglobinuria. ( 27307199 )
2016
26
Cerebral venous thrombosis presenting with intracerebral hemorrhage in a patient with paroxysmal nocturnal hemoglobinuria. ( 27076714 )
2016
27
Small-molecule Factor D inhibitors selectively block the alternative pathway of complement in paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome. ( 27810992 )
2016
28
Extravascular hemolysis and complement consumption in Paroxysmal Nocturnal Hemoglobinuria patients undergoing eculizumab treatment. ( 27644115 )
2016
29
Selectivity of C3-opsonin targeted complement inhibitors: A distinct advantage in the protection of erythrocytes from paroxysmal nocturnal hemoglobinuria patients. ( 26792457 )
2016
30
Paroxysmal nocturnal hemoglobinuria and myelodysplastic syndrome: a case report. ( 26744238 )
2016
31
Technical advances in flow cytometry-based diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria. ( 27759825 )
2016
32
Successful Treatment of Ascites using a Denver(Ar) Peritoneovenous Shunt in a Patient with Paroxysmal Nocturnal Hemoglobinuria and Budd-Chiari syndrome. ( 27746432 )
2016
33
Eculizumab in the management of paroxysmal nocturnal hemoglobinuria: patient selection and special considerations. ( 27536121 )
2016
34
Paroxysmal nocturnal hemoglobinuria in the era of complement inhibition. ( 26852134 )
2016
35
Positive Impact of Eculizumab Therapy on Surgery for Budd-Chiari Syndrome in a Patient with Paroxysmal Nocturnal Hemoglobinuria and a Long-Term History of Thrombosis. ( 27757214 )
2016
36
Predictive Factors of Mortality in Population of Patients with Paroxysmal Nocturnal Hemoglobinuria (PNH): Results from a Korean PNH Registry. ( 26839475 )
2016
37
The dysfunction of platelets in paroxysmal nocturnal hemoglobinuria. ( 27780113 )
2016
38
Eculizumab treatment improved renal hemosiderosis in a patient with paroxysmal nocturnal hemoglobinuria. ( 27873177 )
2016
39
"Diagnostic screening of paroxysmal nocturnal hemoglobinuria: Prospective multicentric evaluation of the current medical indications". ( 27598686 )
2016
40
Interim analysis of post-marketing surveillance of eculizumab for paroxysmal nocturnal hemoglobinuria in Japan. ( 27464489 )
2016
41
Assessment of human antihuman antibodies to eculizumab after long-term treatment in patients with paroxysmal nocturnal hemoglobinuria. ( 26690023 )
2016
42
Bilateral central serous retinopathy in a patient with paroxysmal nocturnal hemoglobinuria treated with deferoxamine. ( 27445073 )
2016
43
Zonal cutaneous ulceration and necrosis of the lower abdomen due to cutaneous thrombosis associated with paroxysmal nocturnal hemoglobinuria. ( 27790741 )
2016
44
Horse anti-thymocyte globulin and eculizumab as concomitant therapeutic approach in an aplastic paroxysmal nocturnal hemoglobinuria patient: go or no-go? ( 26990688 )
2016
45
Presentation and Management of Paroxysmal Nocturnal Hemoglobinuria: A Single-Center Experience. ( 27103981 )
2016
46
Impact of eculizumab treatment on paroxysmal nocturnal hemoglobinuria: a treatment versus no-treatment study. ( 26689746 )
2016
47
Development of paroxysmal nocturnal hemoglobinuria in CALR-positive myeloproliferative neoplasm. ( 27313483 )
2016
48
AOHE: manuscript AOHE-D-16-00564 paroxysmal nocturnal hemoglobinuria with autoimmune hemolytic anemia following eculizumab therapy-with large granular lymphocytic leukemia. ( 27449072 )
2016
49
Allogeneic hematopoietic stem cell transplantation for paroxysmal nocturnal hemoglobinuria: a retrospective single-center study. ( 27761934 )
2016
50
Performance characteristics of a non-fluorescent aerolysin-based paroxysmal nocturnal hemoglobinuria (PNH) assay for simultaneous evaluation of PNH neutrophils and PNH monocytes by flow cytometry, following published PNH guidelines. ( 27294344 )
2016

Variations for Paroxysmal Nocturnal Hemoglobinuria

Expression for Paroxysmal Nocturnal Hemoglobinuria

Search GEO for disease gene expression data for Paroxysmal Nocturnal Hemoglobinuria.

Pathways for Paroxysmal Nocturnal Hemoglobinuria

Pathways related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards Suite gene sharing:

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 C3 C5 CD14 CD55 CD58 CD59
2
Show member pathways
12.01 C3 CR1 FCGR3B
3 12.01 C3 CD14 CR1 FCGR3B
4 11.91 C3 CD14 FCGR3B
5
Show member pathways
11.82 C3 C5 CD55 CD59 CR1
6
Show member pathways
11.7 FCGR3B PIGA PIGT PLAUR
7
Show member pathways
11.68 C3 C5 CD55 CD59 CR1
8 11.66 CD14 CD55 CD59 CR1
9 11.63 C3 CR1 FCGR3B
10 11.57 C3 C5 CD14
11 11.42 C3 C5 FCGR3B
12 11.39 C3 CD14 CR1
13
Show member pathways
11.38 C3 C5 CD55 CD59 CR1
14 11.31 C3 C5 CD55 CD59 CR1 PLAU
15 11.29 HP PLAU PLAUR
16 11.1 PLAU PLAUR
17 10.65 PLAU PLAUR

GO Terms for Paroxysmal Nocturnal Hemoglobinuria

Cellular components related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 C3 C5 CD14 CD55 CD59 FCGR3B
2 extracellular space GO:0005615 9.95 C3 C5 CD14 CD59 HP PLAU
3 cell surface GO:0009986 9.8 CD14 CD55 CD58 CD59 CR1 PLAU
4 extracellular exosome GO:0070062 9.73 C3 C5 CD14 CD55 CD58 CD59
5 specific granule membrane GO:0035579 9.58 CD59 PLAU PLAUR
6 secretory granule membrane GO:0030667 9.55 CD14 CD55 CD58 CR1 FCGR3B
7 ficolin-1-rich granule membrane GO:0101003 9.54 CD55 CD58 CR1
8 anchored component of external side of plasma membrane GO:0031362 9.46 CD14 CD59
9 anchored component of membrane GO:0031225 9.17 CD14 CD55 CD58 CD59 FCGR3B GFRA1
10 plasma membrane GO:0005886 10.13 C3 CD14 CD55 CD58 CD59 CR1

Biological processes related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.72 C3 C5 CD14 CD55 CR1
2 blood coagulation GO:0007596 9.71 CD59 PLAU PLAUR
3 cell surface receptor signaling pathway GO:0007166 9.71 C5 CD14 CD59 GFRA1
4 chemotaxis GO:0006935 9.67 C5 PLAU PLAUR
5 immune system process GO:0002376 9.65 C3 C5 CD14 CD55 CR1
6 GPI anchor biosynthetic process GO:0006506 9.52 PIGA PIGT
7 positive regulation of vascular endothelial growth factor production GO:0010575 9.51 C3 C5
8 fibrinolysis GO:0042730 9.48 PLAU PLAUR
9 positive regulation of interleukin-8 secretion GO:2000484 9.46 CD14 CD58
10 complement activation, classical pathway GO:0006958 9.46 C3 C5 CD55 CR1
11 complement activation, alternative pathway GO:0006957 9.43 C3 C5
12 attachment of GPI anchor to protein GO:0016255 9.37 PIGT PLAUR
13 regulation of complement activation GO:0030449 9.35 C3 C5 CD55 CD59 CR1
14 neutrophil degranulation GO:0043312 9.32 C3 CD14 CD55 CD58 CD59 CR1

Molecular functions related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.02 C3 C5 CD58 GFRA1 PLAUR
2 endopeptidase inhibitor activity GO:0004866 8.96 C3 C5

Sources for Paroxysmal Nocturnal Hemoglobinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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