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PNH
MCID: PRX003
MIFTS: 60

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Categories: Blood diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Paroxysmal Nocturnal Hemoglobinuria

About this section

MalaCards integrated aliases for Paroxysmal Nocturnal Hemoglobinuria:

Name: Paroxysmal Nocturnal Hemoglobinuria 12 74 52 25 58 36 29 15 37 71
Marchiafava-Micheli Disease 52 58
Hemoglobinuria, Paroxysmal 25 43
Pnh 52 58
Paroxysmal Hemoglobinuria Nocturnal 54
Marchiafava-Micheli Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
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:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases
Anatomical: Immune diseases Blood diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0060284
KEGG 36 H01053
MeSH 43 D006457
NCIt 49 C61233
SNOMED-CT 67 127057004 1963002
ICD10 32 D59.5 D59.6
MESH via Orphanet 44 D006457
ICD10 via Orphanet 33 D59.5
UMLS via Orphanet 72 C0024790
Orphanet 58 ORPHA447
UMLS 71 C0019050 C0024790 C0086774
Sources

Summaries for Paroxysmal Nocturnal Hemoglobinuria

About this section
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. People with paroxysmal nocturnal hemoglobinuria have sudden, recurring episodes of symptoms (paroxysmal symptoms), which may be triggered by stresses on the body, such as infections or physical exertion. During these episodes, red blood cells are prematurely destroyed (hemolysis). Affected individuals may pass dark-colored urine due to the presence of hemoglobin, the oxygen-carrying protein in blood. The abnormal presence of hemoglobin in the urine is called hemoglobinuria. In many, but not all cases, hemoglobinuria is most noticeable in the morning, upon passing urine that has accumulated in the bladder during the night (nocturnal). The premature destruction of red blood cells results in a deficiency of these cells in the blood (hemolytic anemia), which can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with paroxysmal nocturnal hemoglobinuria may also be prone to infections due to a deficiency of white blood cells. Abnormal platelets associated with paroxysmal nocturnal hemoglobinuria can cause problems in the blood clotting process. As a result, people with this disorder may experience abnormal blood clotting (thrombosis), especially in large abdominal veins; or, less often, episodes of severe bleeding (hemorrhage). Individuals with paroxysmal nocturnal hemoglobinuria are at increased risk of developing cancer in blood-forming cells (leukemia). In some cases, people who have been treated for another blood disease called aplastic anemia may develop paroxysmal nocturnal hemoglobinuria.

MalaCards based summary : Paroxysmal Nocturnal Hemoglobinuria, also known as marchiafava-micheli disease, is related to paroxysmal nocturnal hemoglobinuria 1 and aplastic anemia. 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 Ravulizumab and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and t cells, and related phenotypes are fatigue and hemolytic anemia

Disease Ontology : 12 An aquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has material basis in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.

NIH Rare Diseases : 52 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.

KEGG : 36 Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon intravascular hemolytic anemia that results from the clonal expansion of hematopoietic stem cells harboring somatic mutations in an X-linked gene, termed PIG-A. PIG-A is required for the biosynthesis of a lipid moiety, glycosylphosphatidylinositol (GPI), that attaches dozens of different proteins to the cell surface. PIG-A mutations block GPI anchor biosynthesis, resulting in a deficiency or absence of all GPI-anchored proteins on the cell surface. This deficiency on erythrocytes leads to intravascular hemolysis since certain GPI anchored proteins normally function as complement regulators.

Wikipedia : 74 Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, life-threatening disease of the blood... more...

Sources

Related Diseases for Paroxysmal Nocturnal Hemoglobinuria

About this section

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 329)
# Related Disease Score Top Affiliating Genes
1 paroxysmal nocturnal hemoglobinuria 1 35.4 PIGT PIGA
2 aplastic anemia 32.9 SERPINC1 PIGA CSF3 CD59 CD55 C5
3 hemolytic anemia 31.4 PIGA HP CSF3 CR1 CD59 CD55
4 retinitis pigmentosa and erythrocytic microcytosis 31.3 PIGA CSF3
5 multiple congenital anomalies-hypotonia-seizures syndrome 31.2 PIGT PIGA
6 anemia, autoimmune hemolytic 31.2 HP CD59 CD55 C3
7 multiple congenital anomalies-hypotonia-seizures syndrome 2 31.0 PIGT PIGA CD59 CD55
8 myelodysplastic syndrome 30.9 PIGA CSF3 CR1 CD59 CD55
9 blood coagulation disease 30.7 SERPINC1 HP CSF3
10 severe pre-eclampsia 30.7 SERPINC1 C5 C3
11 thrombotic thrombocytopenic purpura 30.6 SERPINC1 HP C3
12 hemolytic-uremic syndrome 30.6 SERPINC1 HP CD55 C5 C3
13 splenic infarction 30.5 SERPINC1 HP
14 leukemia, chronic lymphocytic 30.3 FCGR3B CSF3 CR1 CD59 CD58 CD55
15 hemolytic uremic syndrome, atypical 1 30.1 PIGA HP CR1 CD59 CD55 C5
16 hemoglobinuria 29.5 SERPINC1 PLAUR PLAU PIGT PIGH PIGA
17 myocardial infarction 29.5 SERPINC1 HP CSF3 CD59 CD55 CD14
18 paroxysmal nocturnal hemoglobinuria 2 13.1
19 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 11.3
20 thrombophilia due to thrombin defect 11.1
21 deficiency anemia 11.0
22 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 11.0
23 pancytopenia 11.0
24 thrombosis 11.0
25 budd-chiari syndrome 10.9
26 thrombocytopenia 10.9
27 kidney disease 10.8
28 thrombophilia 10.8
29 acute kidney failure 10.8
30 acute leukemia 10.7
31 neutropenia 10.7
32 iron metabolism disease 10.7
33 leukemia 10.7
34 graft-versus-host disease 10.7
35 hemosiderosis 10.7
36 acute graft versus host disease 10.6
37 myelofibrosis 10.6
38 acute kidney tubular necrosis 10.6
39 purpura 10.6
40 leukemia, acute myeloid 10.6
41 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 10.6
42 pulmonary hypertension 10.6
43 myeloproliferative neoplasm 10.5
44 myeloid leukemia 10.5
45 portal vein thrombosis 10.5
46 iron deficiency anemia 10.5
47 meningococcal infection 10.5
48 refractory anemia 10.5
49 wilms tumor 5 10.5
50 acute cystitis 10.5

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



Diseases related to Paroxysmal Nocturnal Hemoglobinuria
Sources

Symptoms & Phenotypes for Paroxysmal Nocturnal Hemoglobinuria

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Human phenotypes related to Paroxysmal Nocturnal Hemoglobinuria:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
2 hemolytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001878
3 bone marrow hypocellularity 58 31 frequent (33%) Frequent (79-30%) HP:0005528
4 hypercoagulability 58 31 frequent (33%) Frequent (79-30%) HP:0100724
5 thromboembolism 58 31 frequent (33%) Frequent (79-30%) HP:0001907
6 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
7 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
8 myocardial infarction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001658
9 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
10 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
11 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
12 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002863
13 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681
14 transient ischemic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0002326
15 pulmonary embolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002204
16 abnormal bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0001892
17 hypoplastic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001908
18 hemoglobinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003641
19 abnormal renal physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012211
20 aplastic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001915
21 cerebral artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012492
22 acute myeloid leukemia 58 31 very rare (1%) Very rare (<4-1%) HP:0004808
23 pancytopenia 58 Very frequent (99-80%)
24 abnormal thrombosis 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.91 PLAUR
2 Decreased viability GR00221-A-1 9.91 PLAUR
3 Decreased viability GR00221-A-2 9.91 PLAUR
4 Decreased viability GR00221-A-4 9.91 PLAUR
5 Decreased viability GR00240-S-1 9.91 CD59 PLAU
6 Decreased viability GR00249-S 9.91 BST1 C5 GFRA1 HP PIGA
7 Decreased viability GR00381-A-1 9.91 BST1
8 Decreased viability GR00381-A-2 9.91 BST1
9 Decreased viability GR00381-A-3 9.91 BST1
10 Decreased viability GR00386-A-1 9.91 C3 C5 CSF3
11 Decreased viability GR00402-S-2 9.91 BST1
12 Reduced mammosphere formation GR00396-S 9.17 BST1 C3 CD59 CSF3 PIGA PLAUR

MGI Mouse Phenotypes related to Paroxysmal Nocturnal Hemoglobinuria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.07 BST1 C3 CD14 CD55 CD59 CSF3
2 immune system MP:0005387 10 BST1 C3 C5 CD14 CD55 CSF3
3 mortality/aging MP:0010768 9.77 C3 C5 CD14 CD55 CD59 GFRA1
4 renal/urinary system MP:0005367 9.23 C3 CD55 CD59 CSF3 GFRA1 HP
Sources

Drugs & Therapeutics for Paroxysmal Nocturnal Hemoglobinuria

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

(show top 50) (show all 91)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ravulizumab Approved, Investigational Phase 4 1803171-55-2
2
Warfarin Approved Phase 4 81-81-2 6691 54678486
3
tannic acid Approved Phase 4 1401-55-4
4
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
5
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
6 Pharmaceutical Solutions Phase 4
7 Antibodies, Monoclonal Phase 4
8 Thymoglobulin Phase 4
9 Complement C3 Phase 4
10 Immunoglobulins, Intravenous Phase 4
11 Rho(D) Immune Globulin Phase 4
12 gamma-Globulins Phase 4
13 Complement C3d Phase 4
14 Anti-Bacterial Agents Phase 4
15 Anticoagulants Phase 4
16 Antibiotics, Antitubercular Phase 4
17
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
18
Iodine Approved, Investigational Phase 3 7553-56-2 807
19
Thiotepa Approved, Investigational Phase 3 52-24-4 5453
20
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
21
rituximab Approved Phase 3 174722-31-7 10201696
22
Protein C Approved Phase 3
23 Antibodies Phase 3
24 Immunoglobulins Phase 3
25 Immunologic Factors Phase 3
26 Cyclosporins Phase 3
27 Antilymphocyte Serum Phase 3
28 Muromonab-CD3 Phase 3
29
Lenograstim Approved, Investigational Phase 2 135968-09-1
30
Basiliximab Approved, Investigational Phase 2 152923-56-3, 179045-86-4
31
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
32
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
33
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
34
Busulfan Approved, Investigational Phase 2 55-98-1 2478
35
Etoposide Approved Phase 2 33419-42-0 36462
36
Melphalan Approved Phase 2 148-82-3 460612 4053
37
leucovorin Approved Phase 2 58-05-9 6006 143
38
Mycophenolic acid Approved Phase 2 24280-93-1 446541
39
Mesna Approved, Investigational Phase 2 3375-50-6 598
40
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
41
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
42
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
43
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
44
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
45
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
46 Hormones Phase 2
47 glucocorticoids Phase 2
48 Anthelmintics Phase 2
49 Hormone Antagonists Phase 2
50 Antiparasitic Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 112)
# Name Status NCT ID Phase Drugs
1 An Open-Label Multi-Center Study of Eculizumab in Children and Adolescents With a Diagnosis of Paroxysmal Nocturnal Hemoglobinuria Completed NCT00867932 Phase 4 Eculizumab
2 Treatment With Thrombopoietin Mimetic Plus Immunosuppressive Therapy in Egyptian Patients With Aplastic Anaemia Recruiting NCT03896971 Phase 4 Combination of thrombopoietin mimetic and cyclosporin A
3 The De-novo Use of Eculizumab Alongside Conventional Therapy in Presensitized Patients Receiving Cardiac Transplantation: An Open-Label, Investigator-Initiated Pilot Trial: [The DUET Cardiac Trial] Active, not recruiting NCT02013037 Phase 4 Eculizumab
4 Phase 4, Single-Arm Study of Ravulizumab in Adult Participants With Paroxysmal Nocturnal Hemoglobinuria Currently Treated With High-Dose Eculizumab Not yet recruiting NCT04320602 Phase 4
5 Sirolimus Combined With Low-dose Warfarin for the Treatment of Refractory Classic Paroxysmal Nocturnal Hemoglobinuria ,a Prospective Study Not yet recruiting NCT03866681 Phase 4 sirolimus
6 Open Label Extension Study of Eculizumab in Patients With Transfusion Dependent PNH Completed NCT00122317 Phase 3 eculizumab
7 SHEPHERD: Safety in Hemolytic PNH Patients Treated With Eculizumab: A Multi-Center Open-Label Research Design Completed NCT00130000 Phase 3 Eculizumab
8 TRIUMPH: A Hemoglobin Stabilization and Transfusion Reduction Efficacy and Safety Clinical Investigation, Randomized, Multi-Center, Double-Blind, Placebo-Controlled, Using Eculizumab in Paroxysmal Nocturnal Hemoglobinuria Patients Completed NCT00112983 Phase 3
9 A Hemoglobin Stabilization and Transfusion Reduction Efficacy and Safety Clinical Investigation, Randomized, Multi-Center, Double-Blind, Placebo-Controlled, Using Eculizumab in Paroxysmal Nocturnal Hemoglobinuria Patients Completed NCT00098280 Phase 3 Eculizumab
10 Randomized, Double-Blind, and Placebo-Controlled Study Using Eculizumab in Transfusion Dependent PNH Patients Completed NCT00122330 Phase 3 eculizumab
11 Safety in Hemolytic PNH Patients Treated With Eculizumab: a Multi-Center Open-Label Research Design Study Completed NCT00122304 Phase 3 eculizumab
12 Randomized Comparison of Cyclophosphamide Versus Cyclophosphamide Plus Fludarabine In Addition To Anti-Thymocyte Globulin for the Conditioning Therapy in Allogeneic Hematopoietic Cell Transplantation for Bone Marrow Failure Syndrome Completed NCT00774527 Phase 3 Cyclophosphamide-fludarabine-anti thymocyte globulin
13 Hematopoietic Stem Cell Transplantation Using Matched Unrelated Donor Peripheral Blood or Bone Marrow for Patients With Hematologic Malignancies Completed NCT00152139 Phase 3 Chemotherapy and antibodies
14 Haploidentical Stem Cell Transplantation Utilizing Purified CD34+ Hematopoietic Cells for Patients With Hematologic Malignancies Completed NCT00186823 Phase 3 TBI, systemic chemotherapy and antibodies as follows:
15 A Randomized, Double-Blind, Active-Controlled Phase 3 Study Evaluating the Efficacy and Safety of ABP 959 Compared With Eculizumab in Adult Subjects With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT03818607 Phase 3 ABP 959;Eculizumab
16 A Phase 3, Randomized, Multicenter, Open-Label, Controlled Study to Evaluate the Efficacy and Safety of APL-2 in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT04085601 Phase 3 APL-2
17 A Phase 3, Open-Label Study of ALXN1210 in Children and Adolescents With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT03406507 Phase 3
18 CONSERVE: rVA576 (Coversin) Long Term Safety and Efficacy Surveillance Study Recruiting NCT03829449 Phase 3 rVA576 (Coversin)
19 Randomized, Open-Label, International, Multi-center, Comparative Study of Efficacy and Safety of BCD-148 (JSC BIOCAD, Russia) and Soliris® in Patients With Paroxysmal Nocturnal Hemoglobinuria Recruiting NCT04060264 Phase 3
20 Investigational Product ; Coversin. Phase III Safety and Efficacy in Three-Part, Two-Arm, Randomised Open Label Evaluation in Patients With Paroxysmal Nocturnal Haemoglobinuria (PNH) Recruiting NCT03588026 Phase 3 rVA576
21 A Phase III Randomised, Double-blind, Multicentre Study to Compare the Efficacy, Safety, Pharmacokinetics, and Immunogenicity Between SB12 (Proposed Eculizumab Biosimilar) and Soliris® in Subjects With Paroxysmal Nocturnal Haemoglobinuria Recruiting NCT04058158 Phase 3 SB12 (proposed eculizumab biosimilar);Soliris (eculizumab)
22 A Phase III, Randomized, Multi-Center, Open-Label, Active-Comparator Controlled Study to Evaluate the Efficacy and Safety of APL-2 in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Active, not recruiting NCT03500549 Phase 3 APL-2;Soliris
23 A Phase 3, Randomized, Open-Label, Active-Controlled Study of ALXN1210 Versus Eculizumab in Complement Inhibitor-Naïve Adult Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Active, not recruiting NCT02946463 Phase 3
24 A Phase 3, Randomized, Open-Label, Active-Controlled Study of ALXN1210 Versus Eculizumab in Adult Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Currently Treated With Eculizumab Active, not recruiting NCT03056040 Phase 3
25 An Open-label Extension Study to Evaluate the Long-term Safety, Tolerability, and Efficacy of REGN3918 in Patients With Paroxysmal Nocturnal Hemoglobinuria Enrolling by invitation NCT04162470 Phase 3 REGN3918
26 An Open Label, Non-Randomized, Multi-Center Extension Study to Evaluate the Long-Term Safety and Efficacy of APL-2 in the Treatment of Paroxysmal Nocturnal Hemoglobinuria (PNH) Enrolling by invitation NCT03531255 Phase 3 APL-2
27 A Phase III, Randomized, Open-Label, Active-Controlled, Multicenter Study Evaluating The Efficacy And Safety Of Crovalimab Versus Eculizumab In Adult And Adolescent Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Not Previously Treated With Complement Inhibitors. Not yet recruiting NCT04434092 Phase 3 Crovalimab;Eculizumab
28 A Phase III, Randomized, Open-Label, Active-Controlled, Multicenter Study Evaluating The Efficacy And Safety Of Crovalimab Versus Eculizumab In Adult And Adolescent Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Currently Treated With Complement Inhibitors. Not yet recruiting NCT04432584 Phase 3 Crovalimab;Eculizumab
29 Phase II Study of the 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
30 Phase II Study of the 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
31 An Open Label Study of the Effects of Eculizumab in CD59 Deficiency Unknown status NCT01579838 Phase 1, Phase 2 Eculizumab
32 Alemtuzumab and Low-Dose Cyclosporine-A as Alternative Immunosuppressive Treatment for Severe Aplastic Anemia (SAA) and Single-Lineage Aplastic Patients Unknown status NCT00895739 Phase 2 cyclosporine
33 Phase II Clinical Study of Eculizumab (h5G1.1-mAb) in Hemolytic Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients: Extension Study to C07-001 Protocol Completed NCT01194804 Phase 2 Eculizumab
34 Phase II Clinical Study of Eculizumab (h5G1.1-mAb) in Hemolytic Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients Completed NCT01192399 Phase 2
35 A Phase 2 Multicenter, Open-Label, Uncontrolled Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of RA101495 in Subjects With Paroxysmal Nocturnal Hemoglobinuria Who Have an Inadequate Response to Eculizumab Completed NCT03030183 Phase 2 Zilucoplan (RA101495)
36 A Phase 1/2 Single-ascending and Multiple-ascending Dose, Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered ALN-CC5 in Healthy Adult Volunteers and Patients With Paroxysmal Nocturnal Hemoglobinuria Completed NCT02352493 Phase 1, Phase 2 ALN-CC5;Sterile Normal Saline (0.9% NaCl)
37 A Phase 2 Open-Label Proof of Concept Study to Assess the Efficacy, Safety, and Pharmacokinetics of ACH-0144471 in Untreated Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Completed NCT03053102 Phase 2 ACH-0144471
38 High Dose Cyclophosphamide for the Treatment of Severe Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria Completed NCT00004464 Phase 2 cyclophosphamide;filgrastim
39 Phase 2 Multicenter, Open-Label, Uncontrolled Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of RA101495 in Subjects With Paroxysmal Nocturnal Hemoglobinuria Completed NCT03078582 Phase 2 Zilucoplan (RA101495)
40 Basiliximab #2: In-Vivo Activated T-Cell Depletion to Prevent GVHD After Nonmyeloablative Allotransplantation for the Treatment of Blood Cancer Completed NCT00975975 Phase 2 Basiliximab
41 HLA-HAPLOIDENTICAL FAMILIAL DONOR HEMATOPOIETIC CELL TRANSPLANTATION AFTER REDUCED INTENSITY CONDITIONING OF BUSULFAN, FLUDARABINE, AND ANTI-THYMOCYTE GLOBULIN FOR PATIENTS WITH BONE MARROW FAILURE SYNDROME - A PHASE 2 STUDY Completed NCT00731328 Phase 2
42 Phase II Trial of Allogeneic T-Cell Depleted Hematopoietic Stem Cell Transplants From HLA Compatible, Related and Unrelated Donors After a Myeloablative Preparative Regimen With Hyperfractionated TBI, Thiotepa and Fludarabine For Treatment of Adult Patients (>18 Years) With Lymphohematopoietic Disorders Completed NCT00587054 Phase 2 cytoreductive regimen followed by a CD34+E- selected allogeneic stem cell transplant
43 Phase IIa, Open Label, Multiple Dose Study to Assess the Safety, Efficacy and Pharmacokinetics of Subcutaneously Administered APL-2 in Subjects With Paroxysmal Nocturnal Hemoglobinuria (PNH). Completed NCT03593200 Phase 2 APL-2
44 A Randomized Trial of Immunosuppression in Aplastic Anemia Patients With Refractory Pancytopenia or Suboptimal Hematologic Response After h-ATG/CsA Treatment Completed NCT00065260 Phase 2 Campath-1H;r-ATG;CsA
45 An Open Label Study of the Effects of Eculizumab in Neuromyelitis Optica Completed NCT00904826 Phase 1, Phase 2 Eculizumab
46 A Randomized Trial of Antithymocyte Globulin and Cyclosporine Versus Cyclophosphamide and Cyclosporine in the Treatment of Severe Aplastic Anemia Completed NCT00001626 Phase 2 antithymocyte globulin;cyclophosphamide;cyclosporine
47 A Single Center, Open-label Study to Determine the Safety and Efficacy of a Dosing Regimen of Eculizumab Added to Conventional Treatment in the Prevention of Antibody-mediated Rejection (AMR) in Positive Crossmatch Living Donor Kidney Transplantation Completed NCT00670774 Phase 1, Phase 2 Eculizumab
48 Non-Myeloablative Allogeneic Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Hematologic Malignancies in High Risk Patients and in Patients With Debilitating Hematologic Diseases Completed NCT00003838 Phase 2
49 Coversin in Paroxysmal Nocturnal Haemoglobinuria (PNH) in Patients With Resistance to Eculizumab Due to Complement C5 Polymorphisms Completed NCT02591862 Phase 2 Coversin
50 A Phase II Study of Reduced-Intensity Allogeneic Peripheral Blood Stem Cell Transplantation (PBSCT) for Treatment of Hematologic Malignancies and Hematopoietic Failure States Completed NCT00997386 Phase 2 busulfan, and melphalan, and alemtuzumab

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, umbilical cord blood-derived hematopoietic progenitor cells for hematopoietic reconstitution
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

Sources

Genetic Tests for Paroxysmal Nocturnal Hemoglobinuria

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Genetic tests related to Paroxysmal Nocturnal Hemoglobinuria:

# Genetic test Affiliating Genes
1 Paroxysmal Nocturnal Hemoglobinuria 29
Sources

Anatomical Context for Paroxysmal Nocturnal Hemoglobinuria

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MalaCards organs/tissues related to Paroxysmal Nocturnal Hemoglobinuria:

40
Bone, Bone Marrow, T Cells, Skin, Heart, Testes, Neutrophil
Sources

Publications for Paroxysmal Nocturnal Hemoglobinuria

About this section

Articles related to Paroxysmal Nocturnal Hemoglobinuria:

(show top 50) (show all 2398)
# Title Authors PMID Year
1
Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. 61 6 54
10220445 1999
2
New somatic mutation in the PIG-A gene emerges at relapse of paroxysmal nocturnal hemoglobinuria. 6 54 61
9787183 1998
3
Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria. 6 54 61
8167330 1994
4
Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. 6 54 61
8500164 1993
5
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. 6 61
23733340 2013
6
Paroxysmal nocturnal hemoglobinuria: an acquired X-linked genetic disease with somatic-cell mosaicism. 6 61
16650759 2006
7
Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise? 6 61
9019395 1997
8
Genetic defects underlying paroxysmal nocturnal hemoglobinuria that arises out of aplastic anemia. 6 61
8541558 1995
9
Recurrent PIG-A mutation (IVS5+1G-->A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test. 6
9233558 1997
10
Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients. 6
8557259 1996
11
Low concentration of serum haptoglobin has impact on understanding complex pathophysiology in patients with acquired bone marrow failure syndromes. 61 54
20376581 2010
12
Phenotypic and functional characterization of a mouse model of targeted Pig-a deletion in hematopoietic cells. 54 61
19679885 2010
13
[Eculizumab in paroxysmal nocturnal hemoglobinuria]. 54 61
20035691 2009
14
Successful liver transplantation for Budd-Chiari syndrome in a patient with paroxysmal nocturnal hemoglobinuria treated with the anti-complement antibody eculizumab. 54 61
19399743 2009
15
Abnormalities in the expression of CD55 and CD59 surface molecules on peripheral blood cells are not specific to paroxysmal nocturnal hemoglobinuria. 54 61
19154662 2009
16
Glycosylphosphatidylinositol-anchored protein deficiency confers resistance to apoptosis in PNH. 61 54
19013003 2009
17
[Density-specific distribution of erythrocytes in different types of anemia]. 61 54
19253711 2009
18
Increased soluble urokinase plasminogen activator receptor (suPAR) is associated with thrombosis and inhibition of plasmin generation in paroxysmal nocturnal hemoglobinuria (PNH) patients. 54 61
18954937 2008
19
The role of oxidative stress in hemolytic anemia. 61 54
18991647 2008
20
[Paroxysmal nocturnal hemoglobinuria]. 61 54
19080854 2008
21
Expansion of donor-derived hematopoietic stem cells with PIGA mutation associated with late graft failure after allogeneic stem cell transplantation. 54 61
18596225 2008
22
Detailed immunophenotypic characterization of different major and minor subsets of peripheral blood cells in patients with paroxysmal nocturnal hemoglobinuria. 54 61
18422849 2008
23
[Immune pathophysiology of refractory anemias]. 61 54
18326316 2008
24
The pathophysiology of disease in patients with paroxysmal nocturnal hemoglobinuria. 61 54
19074066 2008
25
On the origin of multiple mutant clones in paroxysmal nocturnal hemoglobinuria. 61 54
17823237 2007
26
Haptoglobin therapy during pregnancy for paroxysmal nocturnal hemoglobinuria with renal failure. 61 54
17459392 2007
27
Factor H mediated cell surface protection from complement is critical for the survival of PNH erythrocytes. 61 54
17554058 2007
28
Eculizumab: A novel therapy for paroxysmal nocturnal hemoglobinuria. 54 61
17925885 2007
29
The role of complement regulatory proteins (CD55 and CD59) in the pathogenesis of autoimmune hemocytopenias. 54 61
17289551 2007
30
Molecular basis of clonal expansion of hematopoiesis in 2 patients with paroxysmal nocturnal hemoglobinuria (PNH). 54 61
16940417 2006
31
Case report and literature review: transient Inab phenotype and an agglutinating anti-IFC in a patient with a gastrointestinal problem. 61 54
16965581 2006
32
Immune pathogenesis of paroxysmal nocturnal hemoglobinuria. 61 54
16926131 2006
33
The mutation rate in PIG-A is normal in patients with paroxysmal nocturnal hemoglobinuria (PNH). 61 54
16543465 2006
34
PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis. 54 61
16923549 2006
35
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 54 61
16767100 2006
36
A cohort study of the nature of paroxysmal nocturnal hemoglobinuria clones and PIG-A mutations in patients with aplastic anemia. 54 61
16529603 2006
37
High frequency of several PIG-A mutations in patients with aplastic anemia and myelodysplastic syndrome. 54 61
16467865 2006
38
New insights into paroxysmal nocturnal hemoglobinuria. 61 54
17124035 2006
39
[Paroxysmal nocturnal hemoglobinuria--consequences of a missing anchor]. 54 61
16450736 2006
40
PIG-A mutations in normal hematopoiesis. 54 61
15687243 2005
41
[The response of bone marrow hematopoietic cells to G-CSF in paroxysmal nocturnal hemoglobinuria patients]. 61 54
15949269 2005
42
Mean fluorescence intensity rate is a useful marker in the detection of paroxysmal nocturnal hemoglobinuria clones. 61 54
16176170 2005
43
Transfer of glycosylphosphatidylinositol-anchored proteins to deficient cells after erythrocyte transfusion in paroxysmal nocturnal hemoglobinuria. 61 54
15304386 2004
44
CD157 is an important mediator of neutrophil adhesion and migration. 54 61
15328157 2004
45
Increased resistance of PIG-A- bone marrow progenitors to tumor necrosis factor a and interferon gamma: possible implications for the in vivo dominance of paroxysmal nocturnal hemoglobinuria clones. 54 61
15194531 2004
46
Expression of CD59 on lymphocyte and the subsets and its potential clinical application for paroxysmal nocturnal hemoglobinuria diagnosis. 61 54
15053802 2004
47
[Expression of three kinds of GPI-anchor proteins in paroxysmal nocturnal hemoglobinuria, aplastic anemia and myelodysplastic syndromes patients and their clinical implications]. 54 61
15182554 2004
48
Enhanced cytotoxicity of rituximab following genetic and biochemical disruption of glycosylphosphatidylinositol anchored proteins. 61 54
15160958 2004
49
[Spontaneous recovery from pancytopenia in a young female patient with paroxysmal nocturnal hemoglobinuria(PNH): changes in the GPI-anchor expression on peripheral blood cells]. 61 54
15103939 2004
50
Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria. 54 61
14762182 2004
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Variations for Paroxysmal Nocturnal Hemoglobinuria

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Expression for Paroxysmal Nocturnal Hemoglobinuria

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

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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 19)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.65 PLCG1 PLAUR PLAU HP GFRA1 FCGR3B
2
Tuberculosis 36
12.07 FCGR3B CR1 CD14 C3
3
Immune response Lectin induced complement pathway 22
Show member pathways
 11.96 CR1 CD59 CD55 C5 C3
4
Creation of C4 and C2 activators 65
Show member pathways
 11.88 CR1 CD59 CD55 C5 C3
5
Hematopoietic Stem Cells and Lineage-specific Markers 64
11.8 CSF3 CEACAM8 CD59 CD14
6
NF-kappa B signaling pathway 36
11.78 PLCG1 PLAU CD14
7
Staphylococcus aureus infection 36
11.73 FCGR3B C5 C3
8
Hematopoietic cell lineage 36
11.65 CSF3 CR1 CD59 CD55 CD14
9
Complement Pathway 63
Show member pathways
 11.64 CD55 C5 C3
10
Phagocytosis of Microbes 63
11.63 PLCG1 FCGR3B CR1 C3
11
Pertussis 36
11.6 CD14 C5 C3
12
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.58 PLCG1 PLAUR CR1
13
Legionellosis 36
11.46 CR1 CD14 C3
14
Post-translational modification- synthesis of GPI-anchored proteins 65
Show member pathways
 11.43 PLAUR PIGT PIGH PIGA FCGR3B BST1
15
Complement and coagulation cascades 36 1
11.39 SERPINC1 PLAUR PLAU CR1 CD59 CD55
16
amb2 Integrin signaling 1
11.35 PLAUR PLAU HP
17
FGF signaling pathway 1
11.33 PLCG1 PLAUR PLAU
18
Glycosylphosphatidylinositol (GPI)-anchor biosynthesis 36
Show member pathways
 11.25 PIGT PIGH PIGA
19
Dissolution of Fibrin Clot 65
10.68 PLAUR PLAU
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GO Terms for Paroxysmal Nocturnal Hemoglobinuria

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.25 SERPINC1 PLCG1 PLAUR PLAU GFRA1 FCGR3B
2 extracellular region GO:0005576 10.15 SERPINC1 PLAUR PLAU HP FCGR3B CSF3
3 extracellular space GO:0005615 10.09 SERPINC1 PLAU HP CSF3 CEACAM8 CD59
4 cell surface GO:0009986 9.81 PLAUR PLAU CR1 CEACAM8 CD59 CD58
5 extracellular exosome GO:0070062 9.8 SERPINC1 PLAU HP GFRA1 FCGR3B CR1
6 secretory granule membrane GO:0030667 9.72 FCGR3B CR1 CD58 CD55 CD14
7 tertiary granule membrane GO:0070821 9.69 PLAU CEACAM8 CD59
8 extrinsic component of membrane GO:0019898 9.67 PLAUR GFRA1 BST1
9 specific granule membrane GO:0035579 9.65 PLAUR PLAU CEACAM8 CD59 BST1
10 ficolin-1-rich granule membrane GO:0101003 9.63 CR1 CD58 CD55
11 anchored component of external side of plasma membrane GO:0031362 9.52 CD59 CD14
12 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 9.48 PIGH PIGA
13 anchored component of membrane GO:0031225 9.23 PLAUR GFRA1 FCGR3B CEACAM8 CD59 CD55

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.91 CR1 CD55 CD14 C5 C3
2 immune system process GO:0002376 9.91 HP CR1 CD55 CD14 C5 C3
3 blood coagulation GO:0007596 9.71 SERPINC1 PLAUR PLAU CD59
4 cell surface receptor signaling pathway GO:0007166 9.65 GFRA1 FCGR3B CD59 CD14 C5
5 complement activation, classical pathway GO:0006958 9.62 CR1 CD55 C5 C3
6 fibrinolysis GO:0042730 9.52 PLAUR PLAU
7 positive regulation of interleukin-8 secretion GO:2000484 9.49 CD58 CD14
8 preassembly of GPI anchor in ER membrane GO:0016254 9.48 PIGH PIGA
9 complement activation, alternative pathway GO:0006957 9.46 C5 C3
10 neutrophil degranulation GO:0043312 9.4 PLAUR PLAU HP FCGR3B CR1 CEACAM8
11 regulation of complement-dependent cytotoxicity GO:1903659 9.37 CD59 CD55
12 regulation of complement activation GO:0030449 9.35 CR1 CD59 CD55 C5 C3
13 GPI anchor biosynthetic process GO:0006506 9.33 PIGT PIGH PIGA

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.35 PLAUR GFRA1 CD58 C5 C3
2 phosphatidylinositol N-acetylglucosaminyltransferase activity GO:0017176 8.62 PIGH PIGA
Sources

Sources for Paroxysmal Nocturnal Hemoglobinuria

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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