MCID: PRX003
MIFTS: 62

Paroxysmal Nocturnal Hemoglobinuria

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

Aliases & Classifications for Paroxysmal Nocturnal Hemoglobinuria

MalaCards integrated aliases 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:



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 hepatitis and paroxysmal nocturnal hemoglobinuria, somatic, and has symptoms including dysphagia, thromboembolism and fatigue. 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 Proteoglycans in cancer. The drugs Iodine and Immunosuppressive Agents 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 : 72 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 106)
id Related Disease Score Top Affiliating Genes
1 hepatitis 30.3 CD59 HP PIGA
2 paroxysmal nocturnal hemoglobinuria, somatic 12.6
3 paroxysmal nocturnal hemoglobinuria 2 12.5
4 aplastic anemia 11.6
5 paroxysmal cold hemoglobinuria 11.5
6 hemoglobinuria 11.3
7 thrombosis 10.6
8 multiple mitochondrial dysfunctions syndrome 10.6 PIGA PIGT
9 budd-chiari syndrome 10.5
10 orbital periostitis 10.5 C5 CD55
11 leukemia 10.5
12 myelodysplastic syndrome 10.4
13 cerebritis 10.4
14 mental retardation, x-linked, snyder-robinson type 10.4 CD55 CD59 PIGA
15 thrombocytopenia 10.4
16 legionnaires' disease 10.3 PLAU PLAUR
17 periventricular heterotopia with microcephaly 10.3 CD55 CD59 PIGT
18 hematopoietic stem cell transplantation 10.3
19 ovarian endometrioid cystadenoma 10.2 CD55 CD59 HP
20 retinitis 10.2
21 heparin-induced thrombocytopenia 10.2
22 hemolytic anemia 10.2
23 hemosiderosis 10.2
24 hepatorenal syndrome 10.1 PLAU PLAUR
25 multiple myeloma 10.1
26 lymphoma 10.1
27 fasciitis 10.1
28 inherited bone marrow failure syndromes 10.1
29 neutropenia 10.1
30 pancytopenia 10.1
31 hypocalciuric hypercalcemia, type i 10.1 CD55 CD59 PIGA
32 der kaloustian mcintosh silver syndrome 10.0 C3 C5
33 acquired hemophilia 10.0 C3 HP
34 purpura 10.0
35 lupus erythematosus 10.0
36 cholangitis 10.0
37 encephalopathy 10.0
38 endotheliitis 10.0
39 eosinophilic fasciitis 10.0
40 patent foramen ovale 10.0
41 papilledema 10.0
42 sickle cell disease 10.0
43 acute leukemia 10.0
44 lymphoblastic leukemia 10.0
45 chronic lymphocytic leukemia 10.0
46 fanconi syndrome 10.0
47 myeloproliferative neoplasm 10.0
48 autoimmune hemolytic anemia 10.0
49 systemic lupus erythematosus 10.0
50 splenic infarction 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 dysphagia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002015
2 thromboembolism 56 32 frequent (33%) Frequent (79-30%) HP:0001907
3 fatigue 56 32 occasional (7.5%) Occasional (29-5%) HP:0012378
4 muscle weakness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001324
5 hemolytic anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001878
6 abdominal pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002027
7 pulmonary embolism 56 32 occasional (7.5%) Occasional (29-5%) HP:0002204
8 myocardial infarction 56 32 occasional (7.5%) Occasional (29-5%) HP:0001658
9 aplastic anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001915
10 abnormal bleeding 56 32 occasional (7.5%) Occasional (29-5%) HP:0001892
11 myelodysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002863
12 pallor 56 32 occasional (7.5%) Occasional (29-5%) HP:0000980
13 hemoglobinuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0003641
14 transient ischemic attack 56 32 occasional (7.5%) Occasional (29-5%) HP:0002326
15 angina pectoris 56 32 occasional (7.5%) Occasional (29-5%) HP:0001681
16 acute myeloid leukemia 56 32 very rare (1%) Very rare (<4-1%) HP:0004808
17 hypoplastic anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001908
18 bone marrow hypocellularity 56 32 frequent (33%) Frequent (79-30%) HP:0005528
19 hypercoagulability 56 32 frequent (33%) Frequent (79-30%) HP:0100724
20 abnormal renal physiology 56 32 occasional (7.5%) Occasional (29-5%) HP:0012211
21 cerebral artery stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0012492
22 pulmonary hypertension 56 Occasional (29-5%)
23 pancytopenia 56 Very frequent (99-80%)
24 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
25 abnormal thrombosis 56 Occasional (29-5%)

MGI Mouse Phenotypes related to Paroxysmal Nocturnal Hemoglobinuria:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.96 C3 CD14 CD55 CD59 FCGR3B HP
2 immune system MP:0005387 9.81 FCGR3B GFRA1 HP PLAU PLAUR PLCG1
3 mortality/aging MP:0010768 9.65 C3 C5 CD14 CD59 GFRA1 HP
4 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 84)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Investigational Phase 3 7553-56-2 807
2 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
3 Complement System Proteins Phase 3,Phase 2,Phase 1
4 Complement Inactivating Agents Phase 3,Phase 1,Phase 2
5
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
6
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
7
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
8
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
9
Lenograstim Approved Phase 2 135968-09-1
10
Melphalan Approved Phase 2 148-82-3 4053 460612
11
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
12
Vidarabine Approved Phase 1, Phase 2 24356-66-9 32326 21704
13
Busulfan Approved, Investigational Phase 2 55-98-1 2478
14
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
15
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
16
Basiliximab Approved, Investigational Phase 2 152923-56-3, 179045-86-4
17 Thiotepa Approved Phase 2 52-24-4 5453
18
rituximab Approved Phase 2 174722-31-7 10201696
19
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
20
Mycophenolic acid Approved Phase 2 24280-93-1 446541
21
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
22
Etoposide Approved Phase 2 33419-42-0 36462
23
Mechlorethamine Approved Phase 2 51-75-2 4033
24
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
25
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
26
Everolimus Approved Phase 2 159351-69-6 6442177
27
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
28 tannic acid Approved, Nutraceutical Phase 2
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
30
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
31 Adjuvants, Immunologic Phase 2,Phase 1
32 Anthelmintics Phase 2
33 Antifungal Agents Phase 2,Phase 1
34 Anti-Infective Agents Phase 2,Phase 1
35 Antiparasitic Agents Phase 2
36 Antirheumatic Agents Phase 2,Phase 1
37 Calcineurin Inhibitors Phase 2,Phase 1
38 Cyclosporins Phase 2,Phase 1
39 Dermatologic Agents Phase 2,Phase 1
40 glucocorticoids Phase 2
41 Hormone Antagonists Phase 2
42 Hormones Phase 2
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
44 Antilymphocyte Serum Phase 2
45 Alkylating Agents Phase 1, Phase 2
46 Antimetabolites Phase 1, Phase 2
47 Antimetabolites, Antineoplastic Phase 1, Phase 2
48 Antiviral Agents Phase 1, Phase 2
49 Antiemetics Phase 2
50 Anti-Inflammatory Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 63)

id Name Status NCT ID Phase Drugs
1 Eculizumab Pharmacokinetics/Pharmacodynamics Study in Pediatric/Adolescent PNH Subjects Completed NCT00867932 Phase 4 Eculizumab
2 Eculizumab to Treat Paroxysmal Nocturnal Hemoglobinuria Completed NCT00098280 Phase 3 Eculizumab
3 Eculizumab to Treat Paroxysmal Nocturnal Hemoglobinuria Completed NCT00130000 Phase 3 Eculizumab
4 Eculizumab in Treating Patients With Paroxysmal Nocturnal Hemoglobinuria Completed NCT00112983 Phase 3
5 Extension Study of Eculizumab in Patients With Transfusion Dependent Paroxysmal Nocturnal Hemoglobinuria (PNH) Completed NCT00122317 Phase 3 eculizumab
6 Study Using Eculizumab in Transfusion Dependent Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients Completed NCT00122330 Phase 3 eculizumab
7 Study of Safety in Hemolytic Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients Treated With Eculizumab Completed NCT00122304 Phase 3 eculizumab
8 ALXN1210 Versus Eculizumab in Adult Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Currently Treated With Eculizumab Active, not recruiting NCT03056040 Phase 3
9 ALXN1210 Versus Eculizumab in Complement Inhibitor Treatment-Naïve Adult Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Active, not recruiting NCT02946463 Phase 3
10 Safety and Efficacy of Levamisole Combined With Cyclosporine A in Patients With Classic Paroxysmal Nocturnal Hemoglobinuria Unknown status NCT01642979 Phase 2 Levamisole+cyclosporin A+Glucocorticoids;cyclosporin A+Glucocorticoids;Glucocorticoids
11 Safety and Efficacy of Levamisole Combined With Cyclosporine A in Patients With Subclinical Paroxysmal Nocturnal Hemoglobinuria and PNH in the Setting of Another Bone Marrow Failure Syndromes(PNH-2013) Unknown status NCT01760096 Phase 2 Levamisole+cyclosporin A+Glucocorticoids;cyclosporin A+Glucocorticoids;Glucocorticoids
12 An Open Label Study of the Effects of Eculizumab in CD59 Deficiency Unknown status NCT01579838 Phase 1, Phase 2 Eculizumab
13 Alemtuzumab and Low-Dose Cyclosporine in Treating Patients With Severe Aplastic Anemia or Acquired Marrow Failure Unknown status NCT00895739 Phase 2 cyclosporine
14 E07-001: Safety and Efficacy Extension Study of Eculizumab in Paroxysmal Nocturnal Hemoglobinuria Patients Completed NCT01194804 Phase 2 Eculizumab
15 C07-001: Safety and Efficacy Study of Eculizumab in Paroxysmal Nocturnal Hemoglobinuria Patients Completed NCT01192399 Phase 2
16 A Phase 1/2 Study of an Investigational Drug, ALN-CC5, in Healthy Adult Volunteers and Patients With PNH Completed NCT02352493 Phase 1, Phase 2 ALN-CC5;Sterile Normal Saline (0.9% NaCl)
17 Rabbit Antithymocyte Globulin Versus Campath-1H for Treating Severe Aplastic Anemia Completed NCT00065260 Phase 2 Campath-1H;r-ATG;CsA
18 A Pilot Study of Fludarabine Plus Cyclophosphamide in Refractory Severe Aplastic Anemia Completed NCT01187017 Phase 1, Phase 2 Cyclophosphamide;Fludarabine
19 Donor Stem Cell Transplant After Busulfan, Fludarabine, Methylprednisolone, and Antithymocyte Globulin in Treating Patients With Bone Marrow Failure Syndrome Completed NCT00731328 Phase 2
20 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 Basiliximab
21 Allogeneic Mixed Chimerism Stem Cell Transplant Using Campath for Hemoglobinopathies & Bone Marrow Failure Syndromes Completed NCT00004143 Phase 2 Campath, Chemo and/or TBI Allo SCT
22 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 cytoreductive regimen followed by a CD34+E- selected allogeneic stem cell transplant
23 Stem Cell Transplantation as Immunotherapy for Hematologic Malignancies Completed NCT00143559 Phase 2 Systematic chemotherapy and antibodies
24 Haploidentical Stem Cell Transplant for Treatment Refractory Hematological Malignancies Completed NCT00145613 Phase 2 Systemic chemotherapy and antibodies
25 Coversin in Paroxysmal Nocturnal Haemoglobinuria (PNH) Recruiting NCT02591862 Phase 2 Coversin
26 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 RO7112689;Placebo
27 Proof of Concept Study to Assess the Efficacy, Safety and Pharmacokinetics of LFG316 in Patients With Paroxysmal Nocturnal Hemoglobinuria Recruiting NCT02534909 Phase 2
28 A Treatment Study of ACH-0144471 in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT03053102 Phase 2 ACH-0144471
29 Extension Study of RA101495 for Patients With PNH Who Have Completed a RA101495 Clinical Study Recruiting NCT03225287 Phase 2 RA101495
30 Phase 2 Safety and Efficacy Study of RA101495 to Treat PNH Patients Who Have an Inadequate Response to Eculizumab Recruiting NCT03030183 Phase 2 RA101495
31 Phase 2 Safety and Efficacy Study of RA101495 to Treat PNH Patients Recruiting NCT03078582 Phase 2 RA101495
32 A Long-term Treatment Study of ACH-0144471 in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT03181633 Phase 2 ACH-0144471
33 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
34 Specialized Blood Cell Transplants for Cancers of the Blood and Bone Marrow Recruiting NCT00003838 Phase 2
35 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
36 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
37 Fludarabine Phosphate and Total Body Irradiation Followed by a Donor Peripheral Stem Cell Transplant in Treating Patients With Myelodysplastic Syndromes or Myeloproliferative Disorders Active, not recruiting NCT00397813 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
38 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
39 Donor Peripheral Stem Cell Transplant in Treating Patients With Advanced Hematologic Cancer or Other Disorders Active, not recruiting NCT00544115 Phase 2 busulfan;cyclophosphamide;cyclosporine;etoposide;fludarabine phosphate;melphalan;methotrexate;mycophenolate mofetil;sirolimus;tacrolimus
40 Stem Cell Transplant for Hematologic Diseases Terminated NCT00058825 Phase 1, Phase 2 Fludarabine;FK506 (Tacrolimus) or Cyclosporine
41 Targeting Complement Activation in Antineutrophil Cytoplasmic Autoantibodies (ANCA)-Vasculitis - Eculizumab Withdrawn NCT01275287 Phase 2 Standard of care treatment;eculizumab
42 Chemotherapy Plus Sargramostim in Treating Patients With Refractory Myeloid Cancer Completed NCT00012376 Phase 1 bryostatin 1
43 Pilot Study to Assess Safety, Preliminary Efficacy and Pharmacokinetics of S.C. APL-2 in PNH Subjects Recruiting NCT02588833 Phase 1 APL-2
44 A Phase I Study to Assess the Safety APL-2 as an Add-On to Standard of Care in Subjects With PNH Active, not recruiting NCT02264639 Phase 1 APL-2
45 Safety and Pharmacokinetics of TT30 in Subjects With Paroxysmal Nocturnal Hemoglobinuria (PNH) Terminated NCT01335165 Phase 1 ALXN1102;ALXN1103
46 Study of High Dose Cyclophosphamide in Patients With Severe Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria Unknown status NCT00004464 cyclophosphamide;filgrastim
47 Study of Global Coagulation Tests in Patients With Paroxysmal Nocturnal Haemoglobinuria Unknown status NCT01020188
48 Multicenter Retrospective Analysis About the Clinical Characteristics of Korean Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients Unknown status NCT01224483
49 Identifying Characteristics of Bone Marrow Failure Syndromes Unknown status NCT00315419
50 Nonmyeloablative Allogeneic Transplant Unknown status NCT01272817

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, Myeloid

Publications for Paroxysmal Nocturnal Hemoglobinuria

Articles related to Paroxysmal Nocturnal Hemoglobinuria:

(show top 50) (show all 724)
id Title Authors Year
1
Multiple Lacunar Infarcts in Paroxysmal Nocturnal Hemoglobinuria. ( 28781057 )
2017
2
Clinical course and disease burden in patients with paroxysmal nocturnal hemoglobinuria by hemolytic status. ( 28437723 )
2017
3
Paroxysmal Nocturnal Hemoglobinuria in the Differential Diagnosis of Thrombocytopenia. ( 28435653 )
2017
4
Paroxysmal Nocturnal Hemoglobinuria in a Case of Chronic Anemia. ( 28527178 )
2017
5
Standardized high-sensitivity flow cytometry testing for paroxysmal nocturnal hemoglobinuria in children with acquired bone marrow failure disorders: A single center US study. ( 28574201 )
2017
6
The first case of paroxysmal nocturnal hemoglobinuria and Budd-Chiari syndrome treated with complement inhibitor eculizumab in Korea. ( 28698856 )
2017
7
Eculizumab decreases the procoagulant activity of extracellular vesicles in paroxysmal nocturnal hemoglobinuria: A pilot prospective longitudinal clinical study. ( 28646725 )
2017
8
Paroxysmal nocturnal hemoglobinuria clones are not infrequent in patients with inherited bone marrow failure syndromes. ( 28452421 )
2017
9
Multicenter validation of a simplified method for paroxysmal nocturnal hemoglobinuria screening. ( 28332730 )
2017
10
Distinct clinical characteristics of paroxysmal nocturnal hemoglobinuria in patients in Southern Taiwan: A multicenter investigation. ( 28811010 )
2017
11
Deep sequencing of whole genome exon in paroxysmal nocturnal hemoglobinuria. ( 28124384 )
2017
12
Retinal vein occlusion and paroxysmal nocturnal hemoglobinuria. ( 28447244 )
2017
13
Paroxysmal nocturnal hemoglobinuria with spontaneous clinical remission. ( 28528998 )
2017
14
Fluorescent Aerolysin (FLAER)-based paroxysmal nocturnal hemoglobinuria (PNH) screening: a single center experience from India. ( 28432724 )
2017
15
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
16
Serologic response to meningococcal vaccination in patients with paroxysmal nocturnal hemoglobinuria (PNH) chronically treated with the terminal complement inhibitor eculizumab. ( 28124080 )
2017
17
A retrospective study of paroxysmal nocturnal hemoglobinuria in pediatric and adolescent patients. ( 28380398 )
2017
18
Acute kidney injury in a postpartum woman with paroxysmal nocturnal hemoglobinuria: A case report and literature review. ( 28796431 )
2017
19
Renal Biopsy in Paroxysmal Nocturnal Hemoglobinuria: An Insight into the Spectrum of Morphologic Changes. ( 28761230 )
2017
20
Management of thrombosis in paroxysmal nocturnal hemoglobinuria: a clinician's guide. ( 28246555 )
2017
21
Persisting hyperbilirubinemia in patients with paroxysmal nocturnal hemoglobinuria (PNH) chronically treated with eculizumab: The role of hepatocanalicular transporter variants. ( 28692147 )
2017
22
Role of kidney MRI to monitoring clearance of hemosiderin deposits in paroxysmal nocturnal hemoglobinuria. ( 28434706 )
2017
23
Presence of acute and chronic renal failure in patients with paroxysmal nocturnal hemoglobinuria: results of a retrospective analysis from the Spanish PNH Registry. ( 28748287 )
2017
24
Atypical presentation of paroxysmal nocturnal hemoglobinuria treated by eculizumab: A case report. ( 28328837 )
2017
25
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
26
Outcomes of allogeneic stem cell transplantation in patients with paroxysmal nocturnal hemoglobinuria with or without aplastic anemia. ( 28675769 )
2017
27
T Cell Transcriptomes from Paroxysmal Nocturnal Hemoglobinuria Patients Reveal Novel Signaling Pathways. ( 28630090 )
2017
28
Cerebral Stroke in a Teenage Girl with Paroxysmal Nocturnal Hemoglobinuria. ( 28626543 )
2017
29
Renal Manifestations in Paroxysmal Nocturnal Hemoglobinuria. ( 28761231 )
2017
30
Different clinical characteristics of paroxysmal nocturnal hemoglobinuria in pediatric and adult patients. ( 27884975 )
2016
31
Paroxysmal nocturnal hemoglobinuria in the era of complement inhibition. ( 26852134 )
2016
32
Development of paroxysmal nocturnal hemoglobinuria in CALR-positive myeloproliferative neoplasm. ( 27313483 )
2016
33
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
34
Eculizumab in the management of paroxysmal nocturnal hemoglobinuria: patient selection and special considerations. ( 27536121 )
2016
35
Small-molecule Factor D inhibitors selectively block the alternative pathway of complement in paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome. ( 27810992 )
2016
36
Horse anti-thymocyte globulin and eculizumab as concomitant therapeutic approach in an aplastic paroxysmal nocturnal hemoglobinuria patient: go or no-go? ( 26990688 )
2016
37
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
38
Allogeneic hematopoietic stem cell transplantation for paroxysmal nocturnal hemoglobinuria: a retrospective single-center study. ( 27761934 )
2016
39
Pathogenesis of paroxysmal nocturnal hemoglobinuria. ( 27725586 )
2016
40
Technical advances in flow cytometry-based diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria. ( 27759825 )
2016
41
Successful Treatment of Ascites using a Denver(Ar) Peritoneovenous Shunt in a Patient with Paroxysmal Nocturnal Hemoglobinuria and Budd-Chiari syndrome. ( 27746432 )
2016
42
Zonal cutaneous ulceration and necrosis of the lower abdomen due to cutaneous thrombosis associated with paroxysmal nocturnal hemoglobinuria. ( 27790741 )
2016
43
Paroxysmal nocturnal hemoglobinuria and myelodysplastic syndrome: a case report. ( 26744238 )
2016
44
Predictive Factors of Mortality in Population of Patients with Paroxysmal Nocturnal Hemoglobinuria (PNH): Results from a Korean PNH Registry. ( 26839475 )
2016
45
Update on the diagnosis and management of paroxysmal nocturnal hemoglobinuria. ( 27913482 )
2016
46
Assessment of human antihuman antibodies to eculizumab after long-term treatment in patients with paroxysmal nocturnal hemoglobinuria. ( 26690023 )
2016
47
The dysfunction of platelets in paroxysmal nocturnal hemoglobinuria. ( 27780113 )
2016
48
Impact of eculizumab treatment on paroxysmal nocturnal hemoglobinuria: a treatment versus no-treatment study. ( 26689746 )
2016
49
Eculizumab Dosing Intervals Longer than 17 Days May Be Associated with Greater Risk of Breakthrough Hemolysis in Patients with Paroxysmal Nocturnal Hemoglobinuria. ( 26830487 )
2016
50
Presentation and Management of Paroxysmal Nocturnal Hemoglobinuria: A Single-Center Experience. ( 27103981 )
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 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 C3 C5 CD14 CD55 CD58 CD59
2 12.06 PLAU PLAUR PLCG1
3 11.99 C3 CD14 FCGR3B
4 11.91 C3 CD14 FCGR3B
5
Show member pathways
11.83 C3 C5 CD55 CD59
6
Show member pathways
11.75 C3 C5 CD55 CD59
7 11.69 CD14 CD55 CD59
8 11.66 CD14 PLAU PLCG1
9 11.6 C3 FCGR3B PLCG1
10
Show member pathways
11.58 C3 C5 CD55 CD59
11 11.53 C3 C5 CD14
12
Show member pathways
11.45 FCGR3B PIGA PIGT PLAUR
13 11.38 C3 C5 FCGR3B
14 11.29 HP PLAU PLAUR
15 11.25 PLAU PLAUR PLCG1
16 11.24 C3 C5 CD55 CD59 PLAU PLAUR
17 11.1 PLAU PLAUR
18 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 cell surface GO:0009986 9.73 CD14 CD55 CD58 CD59 PLAU PLAUR
3 extracellular exosome GO:0070062 9.7 C3 C5 CD14 CD55 CD58 CD59
4 specific granule membrane GO:0035579 9.54 CD59 PLAU PLAUR
5 secretory granule membrane GO:0030667 9.46 CD14 CD55 CD58 FCGR3B
6 anchored component of external side of plasma membrane GO:0031362 9.4 CD14 CD59
7 anchored component of membrane GO:0031225 9.17 CD14 CD55 CD58 CD59 FCGR3B GFRA1
8 plasma membrane GO:0005886 10.13 C3 CD14 CD55 CD58 CD59 FCGR3B

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.84 C3 C5 CD14 CD55
2 immune system process GO:0002376 9.81 C3 C5 CD14 CD55
3 blood coagulation GO:0007596 9.72 CD59 PLAU PLAUR
4 chemotaxis GO:0006935 9.65 C5 PLAU PLAUR
5 complement activation, classical pathway GO:0006958 9.63 C3 C5 CD55
6 positive regulation of angiogenesis GO:0045766 9.58 C3 C5 PLCG1
7 cell surface receptor signaling pathway GO:0007166 9.56 C5 CD14 CD59 GFRA1
8 GPI anchor biosynthetic process GO:0006506 9.52 PIGA PIGT
9 positive regulation of vascular endothelial growth factor production GO:0010575 9.49 C3 C5
10 fibrinolysis GO:0042730 9.43 PLAU PLAUR
11 positive regulation of interleukin-8 secretion GO:2000484 9.37 CD14 CD58
12 complement activation, alternative pathway GO:0006957 9.32 C3 C5
13 neutrophil degranulation GO:0043312 9.28 C3 CD14 CD55 CD58 CD59 FCGR3B
14 regulation of complement activation GO:0030449 9.26 C3 C5 CD55 CD59
15 attachment of GPI anchor to protein GO:0016255 9.16 PIGT PLAUR

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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