MCID: PRX003
MIFTS: 64

Paroxysmal Nocturnal Hemoglobinuria

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

Aliases & Classifications for Paroxysmal Nocturnal Hemoglobinuria

MalaCards integrated aliases for Paroxysmal Nocturnal Hemoglobinuria:

Name: Paroxysmal Nocturnal Hemoglobinuria 37 12 72 49 24 55 36 28 14 69
Marchiafava-Micheli Disease 49 55
Hemoglobinuria, Paroxysmal 24 41
Pnh 49 55
Paroxysmal Hemoglobinuria Nocturnal 51
Marchiafava-Micheli Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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 aplastic anemia and hemolytic anemia, and has symptoms including hemolytic anemia, fatigue and thromboembolism. An important gene associated with Paroxysmal Nocturnal Hemoglobinuria is PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A), and among its related pathways/superpathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Innate Immune System. 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 : 24 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 1 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 128)
# Related Disease Score Top Affiliating Genes
1 aplastic anemia 32.5 CD55 CD59 PIGA
2 hemolytic anemia 30.3 CD59 HP PIGA
3 anemia, autoimmune hemolytic 30.3 CD55 CD59 HP
4 hemoglobinuria 29.3 C5 CD14 CD55 CD58 CD59 FCGR3B
5 paroxysmal nocturnal hemoglobinuria 1 12.7
6 paroxysmal nocturnal hemoglobinuria 2 12.6
7 paroxysmal cold hemoglobinuria 11.5
8 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.8
9 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.7
10 thrombosis 10.7
11 budd-chiari syndrome 10.6
12 leukemia 10.6
13 myelodysplastic syndrome 10.5
14 cerebritis 10.5
15 thrombocytopenia 10.4
16 thrombophilia due to thrombin defect 10.4
17 hematopoietic stem cell transplantation 10.4
18 multiple congenital anomalies-hypotonia-seizures syndrome 10.3 PIGA PIGT
19 retinitis 10.3
20 heparin-induced thrombocytopenia 10.3
21 acute hemorrhagic conjunctivitis 10.3 C5 CD55
22 blood group, i system 10.2
23 hepatitis 10.2
24 hemosiderosis 10.2
25 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.2 CD55 CD59 PIGA
26 myelofibrosis 10.2
27 myeloma, multiple 10.2
28 aging 10.2
29 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
30 neutropenia 10.2
31 lymphoma 10.2
32 pancytopenia 10.2
33 myeloid leukemia 10.2
34 fasciitis 10.2
35 inherited bone marrow failure syndromes 10.2
36 perforated corneal ulcer 10.2 PLAU PLAUR
37 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.2 CD55 CD59 PIGT
38 leukemia, chronic lymphocytic 2 10.1
39 leukemia, chronic lymphocytic 10.1
40 systemic lupus erythematosus 10.1
41 eosinophilic fasciitis 10.1
42 hemolytic uremic syndrome, atypical 1 10.1
43 lymphoma, hodgkin, classic 10.1
44 thymoma, familial 10.1
45 leukemia, acute myeloid 10.1
46 lymphoma, non-hodgkin, familial 10.1
47 episodic pain syndrome, familial, 1 10.1
48 acute leukemia 10.1
49 retinal vein occlusion 10.1
50 lymphoblastic leukemia 10.1

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:

55 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hemolytic anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001878
2 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 thromboembolism 55 31 frequent (33%) Frequent (79-30%) HP:0001907
4 bone marrow hypocellularity 55 31 frequent (33%) Frequent (79-30%) HP:0005528
5 hypercoagulability 55 31 frequent (33%) Frequent (79-30%) HP:0100724
6 pallor 55 31 occasional (7.5%) Occasional (29-5%) HP:0000980
7 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
8 myocardial infarction 55 31 occasional (7.5%) Occasional (29-5%) HP:0001658
9 angina pectoris 55 31 occasional (7.5%) Occasional (29-5%) HP:0001681
10 abnormal bleeding 55 31 occasional (7.5%) Occasional (29-5%) HP:0001892
11 hypoplastic anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001908
12 aplastic anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001915
13 dysphagia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002015
14 abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002027
15 pulmonary arterial hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0002092
16 pulmonary embolism 55 31 occasional (7.5%) Occasional (29-5%) HP:0002204
17 transient ischemic attack 55 31 occasional (7.5%) Occasional (29-5%) HP:0002326
18 myelodysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002863
19 hemoglobinuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0003641
20 abnormal renal physiology 55 31 occasional (7.5%) Occasional (29-5%) HP:0012211
21 cerebral artery stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0012492
22 acute myeloid leukemia 55 31 very rare (1%) Very rare (<4-1%) HP:0004808
23 pancytopenia 55 Very frequent (99-80%)
24 abnormal thrombosis 55 Occasional (29-5%)

MGI Mouse Phenotypes related to Paroxysmal Nocturnal Hemoglobinuria:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 BST1 CD14 CD55 CD59 FCGR3B HP
2 immune system MP:0005387 9.32 FCGR3B GFRA1 HP PLAU PLAUR PLCG1

Drugs & Therapeutics for Paroxysmal Nocturnal Hemoglobinuria

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

(show top 50) (show all 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational Phase 3 7553-56-2 807
2 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
3 Complement Inactivating Agents Phase 3,Phase 1,Phase 2
4 Complement System Proteins Phase 3,Phase 2,Phase 1
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, Investigational Phase 2 135968-09-1
10
Melphalan Approved Phase 2 148-82-3 460612 4053
11
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
12
Vidarabine Approved, Investigational Phase 1, Phase 2 24356-66-9 21704 32326
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 179045-86-4, 152923-56-3
17 Thiotepa Approved, Investigational 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
Etoposide Approved Phase 2 33419-42-0 36462
22
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
23
Mechlorethamine Approved, Investigational 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 46835353 6436030 5284616
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 69)

# 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 of Safety in Hemolytic Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients Treated With Eculizumab Completed NCT00122304 Phase 3 eculizumab
7 Study Using Eculizumab in Transfusion Dependent Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients Completed NCT00122330 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 A Phase 3, Open-Label Study of ALXN1210 in Children and Adolescents With Paroxysmal Nocturnal Hemoglobinuria (PNH) Not yet recruiting NCT03406507 Phase 3
11 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
12 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
13 An Open Label Study of the Effects of Eculizumab in CD59 Deficiency Unknown status NCT01579838 Phase 1, Phase 2 Eculizumab
14 Alemtuzumab and Low-Dose Cyclosporine in Treating Patients With Severe Aplastic Anemia or Acquired Marrow Failure Unknown status NCT00895739 Phase 2 cyclosporine
15 E07-001: Safety and Efficacy Extension Study of Eculizumab in Paroxysmal Nocturnal Hemoglobinuria Patients Completed NCT01194804 Phase 2 Eculizumab
16 C07-001: Safety and Efficacy Study of Eculizumab in Paroxysmal Nocturnal Hemoglobinuria Patients Completed NCT01192399 Phase 2
17 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)
18 Rabbit Antithymocyte Globulin Versus Campath-1H for Treating Severe Aplastic Anemia Completed NCT00065260 Phase 2 Campath-1H;r-ATG;CsA
19 A Pilot Study of Fludarabine Plus Cyclophosphamide in Refractory Severe Aplastic Anemia Completed NCT01187017 Phase 1, Phase 2 Cyclophosphamide;Fludarabine
20 Donor Stem Cell Transplant After Busulfan, Fludarabine, Methylprednisolone, and Antithymocyte Globulin in Treating Patients With Bone Marrow Failure Syndrome Completed NCT00731328 Phase 2
21 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
22 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
23 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
24 Stem Cell Transplantation as Immunotherapy for Hematologic Malignancies Completed NCT00143559 Phase 2 Systematic chemotherapy and antibodies
25 Haploidentical Stem Cell Transplant for Treatment Refractory Hematological Malignancies Completed NCT00145613 Phase 2 Systemic chemotherapy and antibodies
26 A Treatment Study of ACH-0144471 in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT03053102 Phase 2 ACH-0144471
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 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
29 A Long-term Treatment Study of ACH-0144471 in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT03181633 Phase 2 ACH-0144471
30 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
31 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
32 Specialized Blood Cell Transplants for Cancers of the Blood and Bone Marrow Recruiting NCT00003838 Phase 2
33 Coversin in Paroxysmal Nocturnal Haemoglobinuria (PNH) Active, not recruiting NCT02591862 Phase 2 Coversin
34 Extension Study of RA101495 for Patients With PNH Who Have Completed a RA101495 Clinical Study Active, not recruiting NCT03225287 Phase 2 RA101495
35 Phase 2 Safety and Efficacy Study of RA101495 to Treat PNH Patients Who Have an Inadequate Response to Eculizumab Active, not recruiting NCT03030183 Phase 2 RA101495
36 Phase 2 Safety and Efficacy Study of RA101495 to Treat PNH Patients Active, not recruiting NCT03078582 Phase 2 RA101495
37 Dose-Escalation Study of ALXN1210 IV in Patients With PNH Active, not recruiting NCT02598583 Phase 1, Phase 2
38 Open-label, Multiple Ascending Dose Study of ALXN1210 in Patients With Paroxysmal Nocturnal Hemoglobinuria Active, not recruiting NCT02605993 Phase 2
39 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
40 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
41 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
42 Study of Safety, Efficacy, Tolerability, Pharmacokinetics and Pharmacodynamics of LNP023 in in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Not yet recruiting NCT03439839 Phase 2 LNP023
43 Coversin in PNH in Patients With Resistance to Eculizumab Due to Complement C5 Polymorphisms Not yet recruiting NCT03427060 Phase 2 Coversin
44 Stem Cell Transplant for Hematologic Diseases Terminated NCT00058825 Phase 1, Phase 2 Fludarabine;FK506 (Tacrolimus) or Cyclosporine
45 Targeting Complement Activation in Antineutrophil Cytoplasmic Autoantibodies (ANCA)-Vasculitis - Eculizumab Withdrawn NCT01275287 Phase 2 Standard of care treatment;eculizumab
46 Chemotherapy Plus Sargramostim in Treating Patients With Refractory Myeloid Cancer Completed NCT00012376 Phase 1 bryostatin 1
47 First-In-Human Clinical Study of the C3 Complement Inhibitor AMY- 101 in Healthy Male Volunteers Completed NCT03316521 Phase 1 AMY-101
48 Pilot Study to Assess Safety, Preliminary Efficacy and Pharmacokinetics of S.C. APL-2 in PNH Subjects Recruiting NCT02588833 Phase 1 APL-2
49 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
50 Safety and Pharmacokinetics of TT30 in Subjects With Paroxysmal Nocturnal Hemoglobinuria (PNH) Terminated NCT01335165 Phase 1 ALXN1102;ALXN1103

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:

# Genetic test Affiliating Genes
1 Paroxysmal Nocturnal Hemoglobinuria 28

Anatomical Context for Paroxysmal Nocturnal Hemoglobinuria

MalaCards organs/tissues related to Paroxysmal Nocturnal Hemoglobinuria:

38
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 745)
# Title Authors Year
1
Combined intensive immunosuppression and eculizumab for aplastic anemia in the context of hemolytic paroxysmal nocturnal hemoglobinuria: a retrospective analysis. ( 29131151 )
2018
2
Effects of eculizumab treatment on quality of life in patients with paroxysmal nocturnal hemoglobinuria in Japan. ( 29383624 )
2018
3
ICCS/ESCCA consensus guidelines to detect GPI-deficient cells in paroxysmal nocturnal hemoglobinuria (PNH) and related disorders part 1 - clinical utility. ( 29236352 )
2018
4
Paroxysmal Nocturnal Hemoglobinuria (Pnh): Brain Mri Ischemic Lesions In Neurologically Asymtomatic Patients. ( 29323198 )
2018
5
Hereditary Hemochromatosis Manifesting After Treatment of Paroxysmal Nocturnal Hemoglobinuria With Eculizumab. ( 29102415 )
2018
6
ICCS/ESCCA consensus guidelines to detect GPI-deficient cells in paroxysmal nocturnal hemoglobinuria (PNH) and related disorders part 4 - assay validation and quality assurance. ( 29251828 )
2018
7
ICCS/ESCCA consensus guidelines to detect GPI-deficient cells in paroxysmal nocturnal hemoglobinuria (PNH) and related disorders part 2 - reagent selection and assay optimization for high-sensitivity testing. ( 29236353 )
2018
8
Introduction to ICCS/ESCCA consensus guidelines to detect GPI-deficient cells in paroxysmal nocturnal hemoglobinuria and related disorders. ( 29389086 )
2018
9
Toward complement inhibition 2.0: Next generation anticomplement agents for paroxysmal nocturnal hemoglobinuria. ( 29314145 )
2018
10
The prothrombotic state in paroxysmal nocturnal hemoglobinuria: a multifaceted source. ( 29246924 )
2018
11
Severe Infection of Pseudomonas aeruginosa during Eculizumab Therapy for Paroxysmal Nocturnal Hemoglobinuria. ( 29021487 )
2018
12
ICCS/ESCCA consensus guidelines to detect GPI-deficient cells in paroxysmal nocturnal hemoglobinuria (PNH) and related disorders part 3 - data analysis, reporting and case studies. ( 29236350 )
2018
13
Acute kidney injury in a postpartum woman with paroxysmal nocturnal hemoglobinuria: A case report and literature review. ( 28796431 )
2017
14
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
15
Paroxysmal Nocturnal Hemoglobinuria Assessment by Flow Cytometric Analysis. ( 29128072 )
2017
16
Paroxysmal Nocturnal Hemoglobinuria in the Differential Diagnosis of Thrombocytopenia. ( 28435653 )
2017
17
Low-dose prednisolone in patients with paroxysmal nocturnal hemoglobinuria and inadequate response to eculizumab. ( 29333418 )
2017
18
Renal Manifestations in Paroxysmal Nocturnal Hemoglobinuria. ( 28761231 )
2017
19
T Cell Transcriptomes from Paroxysmal Nocturnal Hemoglobinuria Patients Reveal Novel Signaling Pathways. ( 28630090 )
2017
20
Fluorescent Aerolysin (FLAER)-based paroxysmal nocturnal hemoglobinuria (PNH) screening: a single center experience from India. ( 28432724 )
2017
21
Management of thrombosis in paroxysmal nocturnal hemoglobinuria: a clinician's guide. ( 28246555 )
2017
22
Polymorphism of the<i>ABO</i>gene associate with thrombosis risk in patients with paroxysmal nocturnal hemoglobinuria. ( 29190926 )
2017
23
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
24
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
25
Distinct clinical characteristics of paroxysmal nocturnal hemoglobinuria in patients in Southern Taiwan: A multicenter investigation. ( 28811010 )
2017
26
Multicenter validation of a simplified method for paroxysmal nocturnal hemoglobinuria screening. ( 28332730 )
2017
27
Deep sequencing of whole genome exon in paroxysmal nocturnal hemoglobinuria. ( 28124384 )
2017
28
Paroxysmal Nocturnal Hemoglobinuria in Pregnancy: A Dilemma in Treatment and Thromboprophylaxis. ( 29147590 )
2017
29
Outcomes of allogeneic stem cell transplantation in patients with paroxysmal nocturnal hemoglobinuria with or without aplastic anemia. ( 28675769 )
2017
30
Paroxysmal nocturnal hemoglobinuria clones are not infrequent in patients with inherited bone marrow failure syndromes. ( 28452421 )
2017
31
Retinal vein occlusion and paroxysmal nocturnal hemoglobinuria. ( 28447244 )
2017
32
Role of kidney MRI to monitoring clearance of hemosiderin deposits in paroxysmal nocturnal hemoglobinuria. ( 28434706 )
2017
33
Clinical course and disease burden in patients with paroxysmal nocturnal hemoglobinuria by hemolytic status. ( 28437723 )
2017
34
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
35
A retrospective study of paroxysmal nocturnal hemoglobinuria in pediatric and adolescent patients. ( 28380398 )
2017
36
Paroxysmal nocturnal hemoglobinuria with spontaneous clinical remission. ( 28528998 )
2017
37
Acute myeloid leukemia and fatal<i>Scedosporium prolificans</i>sepsis after eculizumab treatment for paroxysmal nocturnal hemoglobinuria: a case report. ( 29359139 )
2017
38
Atypical presentation of paroxysmal nocturnal hemoglobinuria treated by eculizumab: A case report. ( 28328837 )
2017
39
Eculizumab decreases the procoagulant activity of extracellular vesicles in paroxysmal nocturnal hemoglobinuria: A pilot prospective longitudinal clinical study. ( 28646725 )
2017
40
Renal Biopsy in Paroxysmal Nocturnal Hemoglobinuria: An Insight into the Spectrum of Morphologic Changes. ( 28761230 )
2017
41
Hematopoietic stem cell transplantation for patients with paroxysmal nocturnal hemoglobinuria previously treated with Eculizumab: a retrospective study of 21 patients from SFGM-TC centers. ( 29269526 )
2017
42
Efficacy of eculizumab in paroxysmal nocturnal hemoglobinuria patients with or without aplastic anemia: prospective study of a Korean PNH cohort. ( 29043236 )
2017
43
Persisting hyperbilirubinemia in patients with paroxysmal nocturnal hemoglobinuria (PNH) chronically treated with eculizumab: The role of hepatocanalicular transporter variants. ( 28692147 )
2017
44
Diagnosis of Paroxysmal Nocturnal Hemoglobinuria: Recent Advances. ( 29075054 )
2017
45
Cerebral Stroke in a Teenage Girl with Paroxysmal Nocturnal Hemoglobinuria. ( 28626543 )
2017
46
Paroxysmal Nocturnal Hemoglobinuria in a Case of Chronic Anemia. ( 28527178 )
2017
47
Multiple Lacunar Infarcts in Paroxysmal Nocturnal Hemoglobinuria. ( 28781057 )
2017
48
Serologic response to meningococcal vaccination in patients with paroxysmal nocturnal hemoglobinuria (PNH) chronically treated with the terminal complement inhibitor eculizumab. ( 28124080 )
2017
49
The first case of paroxysmal nocturnal hemoglobinuria and Budd-Chiari syndrome treated with complement inhibitor eculizumab in Korea. ( 28698856 )
2017
50
Horse anti-thymocyte globulin and eculizumab as concomitant therapeutic approach in an aplastic paroxysmal nocturnal hemoglobinuria patient: go or no-go? ( 26990688 )
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 KEGG:

36
# Name Kegg Source Accession
1 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis hsa00563

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 BST1 C5 CD14 CD55 CD58 CD59
2 12.01 PLAU PLAUR PLCG1
3
Show member pathways
11.83 C5 CD55 CD59
4
Show member pathways
11.78 C5 CD55 CD59
5
Show member pathways
11.65 C5 CD55 CD59
6 11.57 CD14 CD55 CD59
7 11.52 CD14 PLAU PLCG1
8 11.5 C5 CD55 CD59 PLAU PLAUR
9 11.18 HP PLAU PLAUR
10 11.1 PLAU PLAUR PLCG1
11 11.04 PLAU PLAUR
12
Show member pathways
11.02 BST1 FCGR3B PIGA PIGT PLAUR
13 10.55 PLAU PLAUR

GO Terms for Paroxysmal Nocturnal Hemoglobinuria

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.8 CD14 CD55 CD58 CD59 PLAU PLAUR
2 extracellular exosome GO:0070062 9.7 BST1 C5 CD14 CD55 CD58 CD59
3 extrinsic component of membrane GO:0019898 9.58 BST1 GFRA1 PLAUR
4 secretory granule membrane GO:0030667 9.56 CD14 CD55 CD58 FCGR3B
5 specific granule membrane GO:0035579 9.46 BST1 CD59 PLAU PLAUR
6 anchored component of external side of plasma membrane GO:0031362 9.43 CD14 CD59
7 anchored component of membrane GO:0031225 9.23 BST1 CD14 CD55 CD58 CD59 FCGR3B
8 plasma membrane GO:0005886 10.16 BST1 CD14 CD55 CD58 CD59 FCGR3B
9 extracellular region GO:0005576 10.02 BST1 C5 CD14 CD55 CD59 FCGR3B

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.63 CD59 PLAU PLAUR
2 chemotaxis GO:0006935 9.58 C5 PLAU PLAUR
3 regulation of complement activation GO:0030449 9.5 C5 CD55 CD59
4 cell surface receptor signaling pathway GO:0007166 9.46 C5 CD14 CD59 GFRA1
5 GPI anchor biosynthetic process GO:0006506 9.43 PIGA PIGT
6 fibrinolysis GO:0042730 9.37 PLAU PLAUR
7 neutrophil degranulation GO:0043312 9.28 BST1 CD14 CD55 CD58 CD59 FCGR3B
8 positive regulation of interleukin-8 secretion GO:2000484 9.26 CD14 CD58
9 attachment of GPI anchor to protein GO:0016255 8.96 PIGT PLAUR

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

# Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 8.92 C5 CD58 GFRA1 PLAUR

Sources for Paroxysmal Nocturnal Hemoglobinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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