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MCID: PRX003
MIFTS: 63

Paroxysmal Nocturnal Hemoglobinuria

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

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MalaCards integrated aliases for Paroxysmal Nocturnal Hemoglobinuria:

Name: Paroxysmal Nocturnal Hemoglobinuria 38 12 76 53 25 59 37 29 15 73
Marchiafava-Micheli Disease 53 59
Hemoglobinuria, Paroxysmal 25 44
Pnh 53 59
Paroxysmal Hemoglobinuria Nocturnal 55
Marchiafava-Micheli Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
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: 33 34
Orphanet: 59  
Inborn errors of metabolism
Rare haematological diseases


Sources

Summaries for Paroxysmal Nocturnal Hemoglobinuria

About this section
NIH Rare Diseases : 53 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.

MalaCards based summary : Paroxysmal Nocturnal Hemoglobinuria, also known as marchiafava-micheli disease, is related to aplastic anemia and anemia, autoimmune hemolytic. 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 Benzocaine and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, and related phenotypes are hemolytic anemia and fatigue

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

Sources

Related Diseases for Paroxysmal Nocturnal Hemoglobinuria

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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 121)
# Related Disease Score Top Affiliating Genes
1 aplastic anemia 32.0 CD55 CD59 PIGA
2 anemia, autoimmune hemolytic 30.3 CD55 CD59 HP
3 hemolytic anemia 30.1 CD55 CD59 HP PIGA
4 hemoglobinuria 27.0 C5 CD14 CD55 CD58 CD59 FCGR3B
5 paroxysmal nocturnal hemoglobinuria 1 12.7
6 paroxysmal nocturnal hemoglobinuria 2 12.6
7 paroxysmal cold hemoglobinuria 11.6
8 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.8
9 thrombosis 10.7
10 budd-chiari syndrome 10.6
11 leukemia 10.6
12 myelodysplastic syndrome 10.5
13 multiple congenital anomalies-hypotonia-seizures syndrome 10.5 PIGA PIGT
14 cerebritis 10.5
15 acute hemorrhagic conjunctivitis 10.5 C5 CD55
16 thrombocytopenia 10.4
17 hematopoietic stem cell transplantation 10.4
18 thrombophilia due to thrombin defect 10.4
19 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.3 CD55 CD59 PIGA
20 retinitis 10.3
21 heparin-induced thrombocytopenia 10.3
22 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.3 CD55 CD59 PIGT
23 perforated corneal ulcer 10.3 PLAU PLAUR
24 hepatitis 10.2
25 hemosiderosis 10.2
26 myelofibrosis 10.2
27 myeloma, multiple 10.2
28 aging 10.2
29 neutropenia 10.2
30 lymphoma 10.2
31 pancytopenia 10.2
32 myeloid leukemia 10.2
33 fasciitis 10.2
34 inherited bone marrow failure syndromes 10.2
35 ureter, cancer of 10.1 PLAU PLAUR
36 leukemia, chronic lymphocytic 2 10.1
37 leukemia, chronic lymphocytic 10.1
38 systemic lupus erythematosus 10.1
39 eosinophilic fasciitis 10.1
40 hemolytic uremic syndrome, atypical 1 10.1
41 lymphoma, hodgkin, classic 10.1
42 leukemia, acute myeloid 10.1
43 lymphoma, non-hodgkin, familial 10.1
44 leukemia, acute lymphoblastic 10.1
45 acute leukemia 10.1
46 retinal vein occlusion 10.1
47 lymphoblastic leukemia 10.1
48 fanconi syndrome 10.1
49 hemolytic-uremic syndrome 10.1
50 patent foramen ovale 10.1

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:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hemolytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001878
2 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
3 thromboembolism 59 32 frequent (33%) Frequent (79-30%) HP:0001907
4 bone marrow hypocellularity 59 32 frequent (33%) Frequent (79-30%) HP:0005528
5 hypercoagulability 59 32 frequent (33%) Frequent (79-30%) HP:0100724
6 pallor 59 32 occasional (7.5%) Occasional (29-5%) HP:0000980
7 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
8 myocardial infarction 59 32 occasional (7.5%) Occasional (29-5%) HP:0001658
9 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
10 abnormal bleeding 59 32 occasional (7.5%) Occasional (29-5%) HP:0001892
11 hypoplastic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001908
12 aplastic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001915
13 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
14 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
15 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
16 pulmonary embolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002204
17 transient ischemic attack 59 32 occasional (7.5%) Occasional (29-5%) HP:0002326
18 myelodysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002863
19 hemoglobinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0003641
20 abnormal renal physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0012211
21 cerebral artery stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012492
22 acute myeloid leukemia 59 32 very rare (1%) Very rare (<4-1%) HP:0004808
23 pancytopenia 59 Very frequent (99-80%)
24 abnormal thrombosis 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Paroxysmal Nocturnal Hemoglobinuria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 CD59 FCGR3B HP PIGA PLAU PLAUR
2 immune system MP:0005387 9.32 BST1 C5 CD14 CD55 FCGR3B GFRA1
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 88)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4,Phase 2 1994-09-7, 94-09-7 2337
2
Lenograstim Approved, Investigational Phase 4,Phase 2,Not Applicable 135968-09-1
3
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
4 tannic acid Approved, Nutraceutical Phase 4,Phase 2
5 Cyclosporins Phase 4,Phase 2,Phase 1
6 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
7
Iodine Approved, Investigational Phase 3 7553-56-2 807
8 Complement Inactivating Agents Phase 3,Phase 1,Phase 2
9 Complement System Proteins Phase 3,Phase 2,Phase 1
10
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
11
alemtuzumab Approved, Investigational Phase 2,Phase 1,Not Applicable 216503-57-0
12
Cyclophosphamide Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 50-18-0, 6055-19-2 2907
13
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
14
Fludarabine Approved Phase 1, Phase 2,Phase 2,Not Applicable 21679-14-1, 75607-67-9 30751
15
Vidarabine Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 24356-66-9 32326 21704
16
Busulfan Approved, Investigational Phase 2,Not Applicable 55-98-1 2478
17
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
18
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
19
Basiliximab Approved, Investigational Phase 2 152923-56-3, 179045-86-4
20
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
21
rituximab Approved Phase 2 174722-31-7 10201696
22
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
23
Mycophenolic acid Approved Phase 2 24280-93-1 446541
24
Etoposide Approved Phase 2,Not Applicable 33419-42-0 36462
25
Mechlorethamine Approved, Investigational Phase 2,Not Applicable 51-75-2 4033
26
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
27
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
28
Everolimus Approved Phase 2 159351-69-6 6442177
29
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
30
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
31
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
32 Adjuvants, Immunologic Phase 2,Phase 1
33 Anthelmintics Phase 2
34 Antifungal Agents Phase 2,Phase 1
35 Anti-Infective Agents Phase 2,Phase 1,Not Applicable
36 Antiparasitic Agents Phase 2
37 Antirheumatic Agents Phase 2,Phase 1,Not Applicable
38 Calcineurin Inhibitors 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,Not Applicable
45 Alkylating Agents Phase 1, Phase 2,Phase 2,Not Applicable
46 Antineoplastic Agents, Alkylating Phase 1, Phase 2,Phase 2,Not Applicable
47 Antimetabolites Phase 1, Phase 2,Phase 2,Not Applicable
48 Antimetabolites, Antineoplastic Phase 1, Phase 2,Phase 2,Not Applicable
49 Antiviral Agents Phase 1, Phase 2,Phase 2,Not Applicable
50 Antiemetics Phase 2

Interventional clinical trials:

(show top 50) (show all 76)
# Name Status NCT ID Phase Drugs
1 Different Doses of Anti-thymocyte Globin to Treat Child Severe Aplastic Anemia Unknown status NCT01997372 Phase 4 ATG
2 Treatment Protocol of Child SAA With the Injection of Mesenchymal Stem Cells（Umbilical Cord Derived） Unknown status NCT02218437 Phase 4 MSC+ATG
3 Eculizumab Pharmacokinetics/Pharmacodynamics Study in Pediatric/Adolescent PNH Subjects Completed NCT00867932 Phase 4 Eculizumab
4 Eculizumab to Treat Paroxysmal Nocturnal Hemoglobinuria Completed NCT00098280 Phase 3 Eculizumab
5 Eculizumab to Treat Paroxysmal Nocturnal Hemoglobinuria Completed NCT00130000 Phase 3 Eculizumab
6 Eculizumab in Treating Patients With Paroxysmal Nocturnal Hemoglobinuria Completed NCT00112983 Phase 3
7 Extension Study of Eculizumab in Patients With Transfusion Dependent Paroxysmal Nocturnal Hemoglobinuria (PNH) Completed NCT00122317 Phase 3 eculizumab
8 Study of Safety in Hemolytic Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients Treated With Eculizumab Completed NCT00122304 Phase 3 eculizumab
9 Study Using Eculizumab in Transfusion Dependent Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients Completed NCT00122330 Phase 3 eculizumab
10 A Phase 3, Open-Label Study of ALXN1210 in Children and Adolescents With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT03406507 Phase 3
11 ALXN1210 Versus Eculizumab in Complement Inhibitor Treatment-Naïve Adult Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Active, not recruiting NCT02946463 Phase 3
12 ALXN1210 Versus Eculizumab in Adult Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Currently Treated With Eculizumab Active, not recruiting NCT03056040 Phase 3
13 Study to Evaluate the Efficacy and Safety of APL-2 in Patients With PNH Not yet recruiting NCT03500549 Phase 3 APL-2;Soliris
14 Multi-center Extension Study to Evaluate the Long Term Safety and Efficacy of APL-2 in the Treatment of Paroxysmal Nocturnal Hemoglobinuria (PNH) Not yet recruiting NCT03531255 Phase 3 APL-2
15 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
16 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
17 An Open Label Study of the Effects of Eculizumab in CD59 Deficiency Unknown status NCT01579838 Phase 1, Phase 2 Eculizumab
18 Alemtuzumab and Low-Dose Cyclosporine in Treating Patients With Severe Aplastic Anemia or Acquired Marrow Failure Unknown status NCT00895739 Phase 2 cyclosporine
19 Coversin in Paroxysmal Nocturnal Haemoglobinuria (PNH) Completed NCT02591862 Phase 2 Coversin
20 Safety and Efficacy Study of Eculizumab in Paroxysmal Nocturnal Hemoglobinuria Patients Completed NCT01192399 Phase 2
21 E07-001: Safety and Efficacy Extension Study of Eculizumab in Paroxysmal Nocturnal Hemoglobinuria Patients Completed NCT01194804 Phase 2 Eculizumab
22 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)
23 Rabbit Antithymocyte Globulin Versus Campath-1H for Treating Severe Aplastic Anemia Completed NCT00065260 Phase 2 Campath-1H;r-ATG;CsA
24 A Pilot Study of Fludarabine Plus Cyclophosphamide in Refractory Severe Aplastic Anemia Completed NCT01187017 Phase 1, Phase 2 Cyclophosphamide;Fludarabine
25 Donor Stem Cell Transplant After Busulfan, Fludarabine, Methylprednisolone, and Antithymocyte Globulin in Treating Patients With Bone Marrow Failure Syndrome Completed NCT00731328 Phase 2
26 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
27 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
28 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
29 Stem Cell Transplantation as Immunotherapy for Hematologic Malignancies Completed NCT00143559 Phase 2 Systematic chemotherapy and antibodies
30 Haploidentical Stem Cell Transplant for Treatment Refractory Hematological Malignancies Completed NCT00145613 Phase 2 Systemic chemotherapy and antibodies
31 Study of Safety, Efficacy, Tolerability, Pharmacokinetics and Pharmacodynamics of LNP023 in in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT03439839 Phase 2 LNP023
32 A Treatment Study of ACH-0144471 in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) With Inadequate Response to Eculizumab Recruiting NCT03472885 Phase 2 ACH-0144471;Eculizumab
33 A Treatment Study of ACH-0144471 in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT03053102 Phase 2 ACH-0144471
34 Proof of Concept Study to Assess the Efficacy, Safety and Pharmacokinetics of LFG316 in Patients With Paroxysmal Nocturnal Hemoglobinuria Recruiting NCT02534909 Phase 2
35 Coversin in PNH in Patients With Resistance to Eculizumab Due to Complement C5 Polymorphisms Recruiting NCT03427060 Phase 2 Coversin
36 A Long-term Treatment Study of ACH-0144471 in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT03181633 Phase 2 ACH-0144471
37 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
38 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
39 Eltrombopag Combined With Cyclosporine as First Line Therapy in Patients With Severe Acquired Aplastic Anemia Recruiting NCT02998645 Phase 2 eltrombopag;Cyclosporine
40 Study to Assess Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of RO7112689 in Healthy Volunteers and Participants With Paroxysmal Nocturnal Hemoglobinuria Active, not recruiting NCT03157635 Phase 1, Phase 2 RO7112689;Placebo
41 Extension Study of RA101495 for Patients With PNH Who Have Completed a RA101495 Clinical Study Active, not recruiting NCT03225287 Phase 2 RA101495
42 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
43 Phase 2 Safety and Efficacy Study of RA101495 to Treat PNH Patients Active, not recruiting NCT03078582 Phase 2 RA101495
44 Dose-Escalation Study of ALXN1210 IV in Patients With PNH Active, not recruiting NCT02598583 Phase 1, Phase 2
45 Open-label, Multiple Ascending Dose Study of ALXN1210 in Patients With Paroxysmal Nocturnal Hemoglobinuria Active, not recruiting NCT02605993 Phase 2
46 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
47 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
48 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
49 Specialized Blood Cell Transplants for Cancers of the Blood and Bone Marrow Active, not recruiting NCT00003838 Phase 2
50 Stem Cell Transplant for Hematologic Diseases Terminated NCT00058825 Phase 1, Phase 2 Fludarabine;FK506 (Tacrolimus) or Cyclosporine

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

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

About this section

MalaCards organs/tissues related to Paroxysmal Nocturnal Hemoglobinuria:

41
Bone, Bone Marrow, Heart, Skin, T Cells, Testes, Myeloid
Sources

Publications for Paroxysmal Nocturnal Hemoglobinuria

About this section

Articles related to Paroxysmal Nocturnal Hemoglobinuria:

(show top 50) (show all 766)
# Title Authors Year
1
Successful reduced-intensity conditioning hematopoietic stem cell transplantation for paroxysmal nocturnal hemoglobinuria with aplastic anemia in two children. ( 29722478 )
2018
2
Maintenance of renal function in a patient with a history of acute paroxysmal nocturnal hemoglobinuria-associated kidney injury. ( 29527312 )
2018
3
Evolutionary dynamics of paroxysmal nocturnal hemoglobinuria. ( 29912864 )
2018
4
Paroxysmal nocturnal hemoglobinuria: Kidney biopsy and magnetic resonance imaging. ( 29629284 )
2018
5
High sensitivity 8-color flow cytometry assay for paroxysmal nocturnal hemoglobinuria granulocyte and monocyte detections. ( 29599976 )
2018
6
Proteinase 3 expression on the neutrophils of patients with paroxysmal nocturnal hemoglobinuria. ( 29467851 )
2018
7
The prothrombotic state in paroxysmal nocturnal hemoglobinuria: a multifaceted source. ( 29246924 )
2018
8
Toward complement inhibition 2.0: Next generation anticomplement agents for paroxysmal nocturnal hemoglobinuria. ( 29314145 )
2018
9
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
10
Eculizumab treatment for ischemic enteritis accompanied with paroxysmal nocturnal hemoglobinuria: a case report and literature review. ( 29532162 )
2018
11
Utility of CD157 as a Common Leukocytes Marker for Paroxysmal Nocturnal Hemoglobinuria Screening in a Single Tube Five Color Combination. ( 29622874 )
2018
12
Hereditary Hemochromatosis Manifesting After Treatment of Paroxysmal Nocturnal Hemoglobinuria With Eculizumab. ( 29102415 )
2018
13
Severe Infection of Pseudomonas aeruginosa during Eculizumab Therapy for Paroxysmal Nocturnal Hemoglobinuria. ( 29021487 )
2018
14
Introduction to ICCS/ESCCA consensus guidelines to detect GPI-deficient cells in paroxysmal nocturnal hemoglobinuria and related disorders. ( 29389086 )
2018
15
ICCS/ESCCA consensus guidelines to detect GPI-deficient cells in paroxysmal nocturnal hemoglobinuria (PNH) and related disorders part 1 - clinical utility. ( 29236352 )
2018
16
Concurrent treatment of aplastic anemia/Paroxysmal Nocturnal Hemoglobinuria syndrome with immunosuppressive therapy and eculizumab: a UK experience. ( 29545341 )
2018
17
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
18
Clonal PIGA mosaicism and dynamics in paroxysmal nocturnal hemoglobinuria. ( 29749402 )
2018
19
Paroxysmal nocturnal hemoglobinuria: When delay in diagnosis and long therapy occurs. ( 29721255 )
2018
20
Effects of eculizumab treatment on quality of life in patients with paroxysmal nocturnal hemoglobinuria in Japan. ( 29383624 )
2018
21
Paroxysmal Nocturnal Hemoglobinuria (Pnh): Brain Mri Ischemic Lesions In Neurologically Asymtomatic Patients. ( 29323198 )
2018
22
Renal involvement in paroxysmal nocturnal hemoglobinuria: an update on clinical features, pathophysiology and treatment. ( 29486674 )
2018
23
Screening and diagnostic clinical algorithm for paroxysmal nocturnal hemoglobinuria: Expert consensus. ( 29532535 )
2018
24
Correction to: Effects of eculizumab treatment on quality of life in patients with paroxysmal nocturnal hemoglobinuria in Japan. ( 29980910 )
2018
25
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
26
CR1 gene polymorphisms in Chinese patients with paroxysmal nocturnal hemoglobinuria. ( 29551496 )
2018
27
Combined intensive immunosuppression and eculizumab for aplastic anemia in the context of hemolytic paroxysmal nocturnal hemoglobinuria: a retrospective analysis. ( 29131151 )
2018
28
Distinct clinical characteristics of paroxysmal nocturnal hemoglobinuria in patients in Southern Taiwan: A multicenter investigation. ( 28811010 )
2017
29
The first case of paroxysmal nocturnal hemoglobinuria and Budd-Chiari syndrome treated with complement inhibitor eculizumab in Korea. ( 28698856 )
2017
30
Renal Manifestations in Paroxysmal Nocturnal Hemoglobinuria. ( 28761231 )
2017
31
T Cell Transcriptomes from Paroxysmal Nocturnal Hemoglobinuria Patients Reveal Novel Signaling Pathways. ( 28630090 )
2017
32
Paroxysmal nocturnal hemoglobinuria with spontaneous clinical remission. ( 28528998 )
2017
33
Acute myeloid leukemia and fatal<i>Scedosporium prolificans</i>sepsis after eculizumab treatment for paroxysmal nocturnal hemoglobinuria: a case report. ( 29359139 )
2017
34
Atypical presentation of paroxysmal nocturnal hemoglobinuria treated by eculizumab: A case report. ( 28328837 )
2017
35
Paroxysmal Nocturnal Hemoglobinuria in the Differential Diagnosis of Thrombocytopenia. ( 28435653 )
2017
36
Renal Biopsy in Paroxysmal Nocturnal Hemoglobinuria: An Insight into the Spectrum of Morphologic Changes. ( 28761230 )
2017
37
Role of kidney MRI to monitoring clearance of hemosiderin deposits in paroxysmal nocturnal hemoglobinuria. ( 28434706 )
2017
38
Paroxysmal Nocturnal Hemoglobinuria Assessment by Flow Cytometric Analysis. ( 29128072 )
2017
39
Deep sequencing of whole genome exon in paroxysmal nocturnal hemoglobinuria. ( 28124384 )
2017
40
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
41
Management of thrombosis in paroxysmal nocturnal hemoglobinuria: a clinician's guide. ( 28246555 )
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
Serologic response to meningococcal vaccination in patients with paroxysmal nocturnal hemoglobinuria (PNH) chronically treated with the terminal complement inhibitor eculizumab. ( 28124080 )
2017
44
Cerebral Stroke in a Teenage Girl with Paroxysmal Nocturnal Hemoglobinuria. ( 28626543 )
2017
45
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
46
Polymorphism of the<i>ABO</i>gene associate with thrombosis risk in patients with paroxysmal nocturnal hemoglobinuria. ( 29190926 )
2017
47
Acute kidney injury in a postpartum woman with paroxysmal nocturnal hemoglobinuria: A case report and literature review. ( 28796431 )
2017
48
Paroxysmal Nocturnal Hemoglobinuria in Pregnancy: A Dilemma in Treatment and Thromboprophylaxis. ( 29147590 )
2017
49
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
50
Paroxysmal Nocturnal Hemoglobinuria in a Case of Chronic Anemia. ( 28527178 )
2017
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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:

37
# Name Kegg Source Accession
1 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis hsa00563

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 13.53 BST1 C5 CD14 CD55 CD58 CD59
2
Proteoglycans in cancer 37
12 PLAU PLAUR PLCG1
3
Creation of C4 and C2 activators 66
Show member pathways
 11.83 C5 CD55 CD59
4
Immune response Lectin induced complement pathway 22
Show member pathways
 11.78 C5 CD55 CD59
5
Complement Pathway 64
Show member pathways
 11.66 C5 CD55 CD59
6
Hematopoietic cell lineage 37
11.57 CD14 CD55 CD59
7
NF-kappa B signaling pathway 37
11.52 CD14 PLAU PLCG1
8
Complement and coagulation cascades 1 37
11.5 C5 CD55 CD59 PLAU PLAUR
9
amb2 Integrin signaling 1
11.18 HP PLAU PLAUR
10
Glycosylphosphatidylinositol (GPI)-anchor biosynthesis 37
Show member pathways
 11.15 PIGA PIGT
11
FGF signaling pathway 1
11.1 PLAU PLAUR PLCG1
12
Validated transcriptional targets of AP1 family members Fra1 and Fra2 1
11.04 PLAU PLAUR
13
Post-translational modification- synthesis of GPI-anchored proteins 66
Show member pathways
 11.02 BST1 FCGR3B PIGA PIGT PLAUR
14
Dissolution of Fibrin Clot 66
10.55 PLAU PLAUR
Sources

GO Terms for Paroxysmal Nocturnal Hemoglobinuria

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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 anchored component of external side of plasma membrane GO:0031362 9.46 CD14 CD59
6 specific granule membrane GO:0035579 9.46 BST1 CD59 PLAU PLAUR
7 anchored component of membrane GO:0031225 9.23 BST1 CD14 CD55 CD58 CD59 FCGR3B
8 plasma membrane GO:0005886 10.13 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 cell surface receptor signaling pathway GO:0007166 9.46 C5 CD14 CD59 GFRA1
4 GPI anchor biosynthetic process GO:0006506 9.43 PIGA PIGT
5 regulation of complement activation GO:0030449 9.43 C5 CD55 CD59
6 fibrinolysis GO:0042730 9.37 PLAU PLAUR
7 positive regulation of interleukin-8 secretion GO:2000484 9.32 CD14 CD58
8 neutrophil degranulation GO:0043312 9.28 BST1 CD14 CD55 CD58 CD59 FCGR3B
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 signaling receptor binding GO:0005102 8.92 C5 CD58 GFRA1 PLAUR
Sources

Sources for Paroxysmal Nocturnal Hemoglobinuria

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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