PNH
MCID: PRX003
MIFTS: 64

Paroxysmal Nocturnal Hemoglobinuria (PNH)

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

Aliases & Classifications for Paroxysmal Nocturnal Hemoglobinuria

MalaCards integrated aliases for Paroxysmal Nocturnal Hemoglobinuria:

Name: Paroxysmal Nocturnal Hemoglobinuria 12 74 20 43 58 36 29 15 37 71
Marchiafava-Micheli Disease 20 58
Hemoglobinuria, Paroxysmal 43 44
Pnh 20 58
Paroxysmal Hemoglobinuria Nocturnal 54
Marchiafava-Micheli Syndrome 43

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:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0060284
KEGG 36 H01053
MeSH 44 D006457
NCIt 50 C61233
ICD10 32 D59.5 D59.6
MESH via Orphanet 45 D006457
ICD10 via Orphanet 33 D59.5
UMLS via Orphanet 72 C0024790
Orphanet 58 ORPHA447
UMLS 71 C0019050 C0024790 C0086774

Summaries for Paroxysmal Nocturnal Hemoglobinuria

MedlinePlus Genetics : 43 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 Sirolimus and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, 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.

GARD : 20 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...

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 333)
# Related Disease Score Top Affiliating Genes
1 paroxysmal nocturnal hemoglobinuria 1 33.5 PIGT PIGA LOC110806306
2 aplastic anemia 32.3 SERPINC1 PIGA LOC110806306 CSF3 CD59 CD55
3 hemolytic anemia 31.8 PIGA HP CSF3 CR1 CD59 CD55
4 myelodysplastic syndrome 31.7 PIGA CSF3 CR1 CD59 CD55
5 deficiency anemia 31.7 SERPINC1 HP CSF3 CR1 CD59 CD55
6 hemoglobinuria 31.5 SERPINC1 PLAUR PIGT PIGH PIGA HP
7 anemia, autoimmune hemolytic 31.3 HP CD59 CD55 C3
8 retinitis pigmentosa and erythrocytic microcytosis 31.1 PIGA CSF3
9 multiple congenital anomalies-hypotonia-seizures syndrome 2 31.1 PIGT PIGA CD59
10 multiple congenital anomalies-hypotonia-seizures syndrome 31.0 PIGT PIGA
11 hemolytic-uremic syndrome 30.8 SERPINC1 HP CD55 C5 C3
12 severe pre-eclampsia 30.8 SERPINC1 C5 C3
13 splenic infarction 30.6 SERPINC1 HP
14 thrombotic thrombocytopenic purpura 30.6 SERPINC1 HP C3
15 leukemia, chronic lymphocytic 30.6 FCGR3B CSF3 CR1 CD59 CD58 CD55
16 hemolytic uremic syndrome, atypical 1 30.5 PIGA HP CR1 CD59 CD55 C5
17 blood coagulation disease 30.5 SERPINC1 HP CSF3 C3
18 esophageal varix 30.4 SERPINC1 HP
19 myocardial infarction 30.0 SERPINC1 HP CSF3 CD59 CD55 CD14
20 paroxysmal nocturnal hemoglobinuria 2 11.9
21 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 11.2
22 pancytopenia 11.0
23 thrombosis 10.9
24 budd-chiari syndrome 10.9
25 thrombophilia 10.8
26 thrombocytopenia 10.8
27 kidney disease 10.8
28 acute kidney failure 10.8
29 acute leukemia 10.7
30 neutropenia 10.7
31 iron metabolism disease 10.7
32 graft-versus-host disease 10.7
33 hemosiderosis 10.7
34 acute graft versus host disease 10.6
35 myelofibrosis 10.6
36 pulmonary hypertension 10.6
37 leukemia 10.6
38 acute kidney tubular necrosis 10.6
39 purpura 10.6
40 meningococcal infection 10.6
41 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 10.5
42 leukemia, acute myeloid 10.5
43 iron deficiency anemia 10.5
44 myeloproliferative neoplasm 10.5
45 chronic kidney disease 10.5
46 refractory anemia 10.5
47 portal vein thrombosis 10.5
48 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
49 proteinuria, chronic benign 10.5
50 urinary tract infection 10.5

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:

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 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
7 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
8 myocardial infarction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001658
9 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
10 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002863
11 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681
12 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
13 transient ischemic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0002326
14 pulmonary embolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002204
15 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 BST1 C3 CD59 CSF3 PIGA PLAUR

MGI Mouse Phenotypes related to Paroxysmal Nocturnal Hemoglobinuria:

46
# 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 9.28 C3 C5 CD55 CD59 CSF3 GFRA1

Drugs & Therapeutics for Paroxysmal Nocturnal Hemoglobinuria

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

(show top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030
2
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4
Ravulizumab Approved, Investigational Phase 4 1803171-55-2
5
Warfarin Approved Phase 4 81-81-2 6691 54678486
6
tannic acid Approved Phase 4 1401-55-4
7
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
8 Pharmaceutical Solutions Phase 4
9 Immunosuppressive Agents Phase 4
10 Immunologic Factors Phase 4
11 Antibiotics, Antitubercular Phase 4
12 Antifungal Agents Phase 4
13 Anti-Bacterial Agents Phase 4
14 Anti-Infective Agents Phase 4
15 Anticoagulants Phase 4
16
Temazepam Approved, Investigational Phase 3 846-50-4 5391
17
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
18
Iodine Approved, Investigational Phase 3 7553-56-2 807
19
rituximab Approved Phase 3 174722-31-7 10201696
20
Thiotepa Approved, Investigational Phase 3 52-24-4 5453
21
Protein C Approved Phase 3
22 Antilymphocyte Serum Phase 3
23 Immunoglobulins Phase 3
24 Antibodies Phase 3
25 Cyclosporins Phase 3
26 Muromonab-CD3 Phase 3
27 Antibodies, Monoclonal Phase 3
28 Complement System Proteins Phase 3
29
Lenograstim Approved, Investigational Phase 2 135968-09-1
30
Melphalan Approved Phase 2 148-82-3 4053 460612
31
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
32
alemtuzumab Approved, Investigational Phase 2 216503-57-0
33
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
34
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
35
Basiliximab Approved, Investigational Phase 2 179045-86-4, 152923-56-3
36
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
37
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
38
Mycophenolic acid Approved Phase 2 24280-93-1 446541
39
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
40
Mesna Approved, Investigational Phase 2 3375-50-6 598
41
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
42
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
43 Hormones Phase 2
44 Hormone Antagonists Phase 2
45 Antiparasitic Agents Phase 2
46 glucocorticoids Phase 2
47 Anthelmintics Phase 2
48 Folic Acid Antagonists Phase 2
49 Vitamin B Complex Phase 2
50 Dermatologic Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 98)
# 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 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
3 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
4 Open Label Extension Study of Eculizumab in Patients With Transfusion Dependent PNH Completed NCT00122317 Phase 3 eculizumab
5 A Safety and Immunogenicity Study in Long-term Treatment of Eculizumab (JSC "GENERIUM", Russian Federation) in Patients With Paroxysmal Nocturne Hemoglobinuria, Who Have Been Involved Earlier in the Clinical Trials of Eculizumab Completed NCT04679103 Phase 3
6 Investigational Product ; Coversin. Phase III Safety and Efficacy in Three-Part, Two-Arm, Randomised Open Label Evaluation in Patients With Paroxysmal Nocturnal Haemoglobinuria (PNH) Completed NCT03588026 Phase 3 rVA576
7 SHEPHERD: Safety in Hemolytic PNH Patients Treated With Eculizumab: A Multi-Center Open-Label Research Design Completed NCT00130000 Phase 3 Eculizumab
8 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) Completed NCT03500549 Phase 3 APL-2;Soliris
9 A Multicenter, Open Label, Randomized, Parallel-group Study of Efficacy and Safety of Eculizumab (JSC GENERIUM, Russia) vs. Soliris® (Alexion Pharma GmbH, Switzerland) in Patients With Paroxysmal Nocturnal Hemoglobinuria Completed NCT04463056 Phase 3
10 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
11 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
12 Randomized, Double-Blind, and Placebo-Controlled Study Using Eculizumab in Transfusion Dependent PNH Patients Completed NCT00122330 Phase 3 eculizumab
13 Safety in Hemolytic PNH Patients Treated With Eculizumab: a Multi-Center Open-Label Research Design Study Completed NCT00122304 Phase 3 eculizumab
14 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
15 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:
16 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
17 CONSERVE: rVA576 (Coversin) Long Term Safety and Efficacy Surveillance Study Recruiting NCT03829449 Phase 3 rVA576 (Coversin)
18 A Randomized, Multicenter, Active-comparator Controlled, Open-label Trial to Evaluate Efficacy and Safety of Oral, Twice Daily LNP023 in Adult Patients With PNH and Residual Anemia, Despite Treatment With an Intravenous Anti-C5 Antibody. Recruiting NCT04558918 Phase 3 LNP023;Eculizumab;Ravulizumab
19 A Phase 3, Open-Label Study of ALXN1210 in Children and Adolescents With Paroxysmal Nocturnal Hemoglobinuria (PNH) Recruiting NCT03406507 Phase 3
20 A Phase III, Randomized, Open-Label, Active-Controlled, Multicenter Study Evaluating The Efficacy And Safety Of Crovalimab Versus Eculizumab In Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Currently Treated With Complement Inhibitors. Recruiting NCT04432584 Phase 3 Crovalimab;Eculizumab
21 A Phase 3 Study of Danicopan (ALXN2040) as Add-on Therapy to a C5 Inhibitor (Eculizumab or Ravulizumab) in Patients With Paroxysmal Nocturnal Hemoglobinuria Who Have Clinically Evident Extravascular Hemolysis (EVH) Recruiting NCT04469465 Phase 3 Danicopan;Placebo;C5 Inhibitor
22 A Phase III, Randomized, Open-Label, Active-Controlled, Multicenter Study Evaluating The Efficacy And Safety Of Crovalimab Versus Eculizumab In Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Not Previously Treated With Complement Inhibitors. Recruiting NCT04434092 Phase 3 Crovalimab;Eculizumab
23 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) Active, not recruiting NCT03818607 Phase 3 ABP 959;Eculizumab
24 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 Active, not recruiting NCT04060264 Phase 3
25 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
26 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 Active, not recruiting NCT04058158 Phase 3 SB12 (proposed eculizumab biosimilar);Soliris (eculizumab)
27 A Phase 3, Randomized, Multicenter, Open-Label, Controlled Study to Evaluate the Efficacy and Safety of Pegcetacoplan in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Active, not recruiting NCT04085601 Phase 3 APL-2
28 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
29 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
30 An Open Label, Non-Randomized, Multi-Center Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegcetacoplan in the Treatment of Paroxysmal Nocturnal Hemoglobinuria (PNH) Enrolling by invitation NCT03531255 Phase 3 Pegcetacoplan
31 A Phase III, Multicenter, Single Arm Study Evaluating the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Crovalimab in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Not Previously Treated With Complement Inhibition Not yet recruiting NCT04654468 Phase 3 Crovalimab
32 An Open Label, Multicenter Roll-over Extension Program (REP) to Characterize the Long-term Safety and Tolerability of Iptacopan (LNP023) in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Who Have Completed PNH Phase 2 and Phase3 Studies With Iptacopan Not yet recruiting NCT04747613 Phase 3 Iptacopan
33 A Phase II Trial of Allogeneic Peripheral Blood Stem Cell Transplantation From Matched Unrelated Donors in Patients With Advanced Hematologic Malignancies and Hematological Disorders Unknown status NCT00544115 Phase 2 busulfan;cyclophosphamide;cyclosporine;etoposide;fludarabine phosphate;melphalan;methotrexate;mycophenolate mofetil;sirolimus;tacrolimus
34 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
35 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
36 High Dose Cyclophosphamide for the Treatment of Severe Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria Completed NCT00004464 Phase 2 cyclophosphamide;filgrastim
37 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
38 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
39 Phase II Clinical Study of Eculizumab (h5G1.1-mAb) in Hemolytic Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients Completed NCT01192399 Phase 2
40 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
41 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)
42 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)
43 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)
44 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 Pegcetacoplan
45 A Reduced Intensity Conditioning Regimen With CD3-Depleted Hematopoietic Stem Cells to Improve Survival for Patients With Hematologic Malignancies Undergoing Haploidentical Stem Cell Transplantation Completed NCT00566696 Phase 2 Fludarabine;Thioplex®;L-phenylalanine mustard;Mycophenolate mofetil;Rituxan™;Alemtuzumab;Cyclophosphamide;Anti-thymocyte globulin (Rabbit);G-CSF;Muromonab
46 Haploidentical Hematopoietic Stem Cell Transplantation Utilizing Partial T-Cell Depletion as Immunotherapy for Hematologic Malignancies Completed NCT00143559 Phase 2 Systematic chemotherapy and antibodies
47 Allogeneic Mixed Chimerism Stem Cell Transplantation Utilizing In Vivo and In Vitro Campath for Hemoglobinopathies and Bone Marrow Failure Syndromes Completed NCT00004143 Phase 2 Campath, Chemo and/or TBI Allo SCT
48 Coversin in Paroxysmal Nocturnal Haemoglobinuria (PNH) in Patients With Resistance to Eculizumab Due to Complement C5 Polymorphisms Completed NCT02591862 Phase 2 Coversin
49 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
50 A Phase II Study of Peripheral Blood Stem Cell Transplantation (PBSCT)From Haploidentical Related Donors for Treatment of Hematologic Malignancies and Hematopoietic Failure States Completed NCT00618969 Phase 2

Search NIH Clinical Center for Paroxysmal Nocturnal Hemoglobinuria

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Paroxysmal Nocturnal Hemoglobinuria cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Paroxysmal Nocturnal Hemoglobinuria:
Hemacord, 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

Genetic Tests for Paroxysmal Nocturnal Hemoglobinuria

Genetic tests related to Paroxysmal Nocturnal Hemoglobinuria:

# Genetic test Affiliating Genes
1 Paroxysmal Nocturnal Hemoglobinuria 29

Anatomical Context for Paroxysmal Nocturnal Hemoglobinuria

MalaCards organs/tissues related to Paroxysmal Nocturnal Hemoglobinuria:

40
Bone Marrow, Bone, Myeloid, Liver, Monocytes, Kidney, Neutrophil

Publications for Paroxysmal Nocturnal Hemoglobinuria

Articles related to Paroxysmal Nocturnal Hemoglobinuria:

(show top 50) (show all 2480)
# Title Authors PMID Year
1
Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. 61 54 6
10220445 1999
2
New somatic mutation in the PIG-A gene emerges at relapse of paroxysmal nocturnal hemoglobinuria. 61 54 6
9787183 1998
3
Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria. 61 54 6
8167330 1994
4
Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. 61 54 6
8500164 1993
5
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. 61 6
23733340 2013
6
Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise? 6 61
9019395 1997
7
Genetic defects underlying paroxysmal nocturnal hemoglobinuria that arises out of aplastic anemia. 61 6
8541558 1995
8
Recurrent PIG-A mutation (IVS5+1G-->A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test. 6
9233558 1997
9
Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients. 6
8557259 1996
10
Low concentration of serum haptoglobin has impact on understanding complex pathophysiology in patients with acquired bone marrow failure syndromes. 61 54
20376581 2010
11
Phenotypic and functional characterization of a mouse model of targeted Pig-a deletion in hematopoietic cells. 61 54
19679885 2010
12
[Eculizumab in paroxysmal nocturnal hemoglobinuria]. 54 61
20035691 2009
13
Successful liver transplantation for Budd-Chiari syndrome in a patient with paroxysmal nocturnal hemoglobinuria treated with the anti-complement antibody eculizumab. 61 54
19399743 2009
14
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
15
Glycosylphosphatidylinositol-anchored protein deficiency confers resistance to apoptosis in PNH. 54 61
19013003 2009
16
[Density-specific distribution of erythrocytes in different types of anemia]. 54 61
19253711 2009
17
Increased soluble urokinase plasminogen activator receptor (suPAR) is associated with thrombosis and inhibition of plasmin generation in paroxysmal nocturnal hemoglobinuria (PNH) patients. 61 54
18954937 2008
18
[Paroxysmal nocturnal hemoglobinuria]. 54 61
19080854 2008
19
The role of oxidative stress in hemolytic anemia. 61 54
18991647 2008
20
Expansion of donor-derived hematopoietic stem cells with PIGA mutation associated with late graft failure after allogeneic stem cell transplantation. 54 61
18596225 2008
21
Detailed immunophenotypic characterization of different major and minor subsets of peripheral blood cells in patients with paroxysmal nocturnal hemoglobinuria. 54 61
18422849 2008
22
[Immune pathophysiology of refractory anemias]. 61 54
18326316 2008
23
The pathophysiology of disease in patients with paroxysmal nocturnal hemoglobinuria. 61 54
19074066 2008
24
On the origin of multiple mutant clones in paroxysmal nocturnal hemoglobinuria. 54 61
17823237 2007
25
Haptoglobin therapy during pregnancy for paroxysmal nocturnal hemoglobinuria with renal failure. 61 54
17459392 2007
26
Factor H mediated cell surface protection from complement is critical for the survival of PNH erythrocytes. 54 61
17554058 2007
27
Eculizumab: A novel therapy for paroxysmal nocturnal hemoglobinuria. 54 61
17925885 2007
28
The role of complement regulatory proteins (CD55 and CD59) in the pathogenesis of autoimmune hemocytopenias. 61 54
17289551 2007
29
Molecular basis of clonal expansion of hematopoiesis in 2 patients with paroxysmal nocturnal hemoglobinuria (PNH). 61 54
16940417 2006
30
Case report and literature review: transient Inab phenotype and an agglutinating anti-IFC in a patient with a gastrointestinal problem. 61 54
16965581 2006
31
Immune pathogenesis of paroxysmal nocturnal hemoglobinuria. 61 54
16926131 2006
32
The mutation rate in PIG-A is normal in patients with paroxysmal nocturnal hemoglobinuria (PNH). 61 54
16543465 2006
33
PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis. 61 54
16923549 2006
34
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 54 61
16767100 2006
35
A cohort study of the nature of paroxysmal nocturnal hemoglobinuria clones and PIG-A mutations in patients with aplastic anemia. 61 54
16529603 2006
36
High frequency of several PIG-A mutations in patients with aplastic anemia and myelodysplastic syndrome. 61 54
16467865 2006
37
New insights into paroxysmal nocturnal hemoglobinuria. 61 54
17124035 2006
38
[Paroxysmal nocturnal hemoglobinuria--consequences of a missing anchor]. 54 61
16450736 2006
39
PIG-A mutations in normal hematopoiesis. 61 54
15687243 2005
40
[The response of bone marrow hematopoietic cells to G-CSF in paroxysmal nocturnal hemoglobinuria patients]. 61 54
15949269 2005
41
Mean fluorescence intensity rate is a useful marker in the detection of paroxysmal nocturnal hemoglobinuria clones. 54 61
16176170 2005
42
CD157 is an important mediator of neutrophil adhesion and migration. 61 54
15328157 2004
43
Transfer of glycosylphosphatidylinositol-anchored proteins to deficient cells after erythrocyte transfusion in paroxysmal nocturnal hemoglobinuria. 61 54
15304386 2004
44
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. 61 54
15194531 2004
45
Expression of CD59 on lymphocyte and the subsets and its potential clinical application for paroxysmal nocturnal hemoglobinuria diagnosis. 61 54
15053802 2004
46
Enhanced cytotoxicity of rituximab following genetic and biochemical disruption of glycosylphosphatidylinositol anchored proteins. 61 54
15160958 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
[Spontaneous recovery from pancytopenia in a young female patient with paroxysmal nocturnal hemoglobinuria(PNH): changes in the GPI-anchor expression on peripheral blood cells]. 54 61
15103939 2004
49
Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria. 54 61
14762182 2004
50
G-CSF induced progenitor mobilization in mice with PIGA- blood cells. 61 54
15297852 2004

Variations for Paroxysmal Nocturnal Hemoglobinuria

ClinVar genetic disease variations for Paroxysmal Nocturnal Hemoglobinuria:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIGA NM_002641.3(PIGA):c.1188+2del Deletion Pathogenic 9957 rs587776723 X:15342785-15342785 X:15324663-15324663
2 PIGA NM_020473.3(PIGA):c.13+3864C>A SNV Pathogenic 9958 rs199422232 X:15349759-15349759 X:15331637-15331637
3 PIGA NM_020473.3(PIGA):c.13+4029_13+4030insA Insertion Pathogenic 9959 rs587776724 X:15349593-15349594 X:15331471-15331472
4 PIGA NM_002641.3(PIGA):c.1115del (p.Pro372fs) Deletion Pathogenic 9960 rs587776725 X:15342860-15342860 X:15324738-15324738
5 PIGA NM_020473.3(PIGA):c.13+3733C>T SNV Pathogenic 9961 rs199422233 X:15349890-15349890 X:15331768-15331768
6 PIGA NM_020473.3(PIGA):c.13+3819_13+3820insGT Insertion Pathogenic 9962 rs587776726 X:15349803-15349804 X:15331681-15331682
7 PIGA NM_020473.3(PIGA):c.13+4001del Deletion Pathogenic 9963 rs587776727 X:15349622-15349622 X:15331500-15331500
8 PIGA NM_002641.3(PIGA):c.1323_1324del (p.Leu442fs) Deletion Pathogenic 9964 rs587776728 X:15339759-15339760 X:15321637-15321638
9 PIGA PIGA, IVS5DS, G-A, +1, SOMATIC SNV Pathogenic 9965
10 PIGA NM_002641.3(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) Insertion Pathogenic 9966 rs786200912 X:15339727-15339728 X:15321605-15321606
11 LOC110806306 NR_001566.1(TERC):n.-100C>G SNV Pathogenic 41400 rs199422256 3:169482948-169482948 3:169765160-169765160
12 PIGT NM_015937.6(PIGT):c.1401-2A>G SNV risk factor 64650 rs587777028 20:44053134-44053134 20:45424494-45424494
13 PIGT NM_015937.6(PIGT):c.197del (p.Tyr66fs) Deletion risk factor 548927 rs1555876283 20:44045166-44045166 20:45416526-45416526
14 PIGT NM_015937.6(PIGT):c.763_766AAGA[1] (p.Lys256fs) Microsatellite risk factor 599265 rs776974834 20:44048855-44048858 20:45420215-45420218
15 PIGA NM_002641.4(PIGA):c.1355A>T (p.Asp452Val) SNV Likely pathogenic 973228 X:15339728-15339728 X:15321606-15321606
16 PIGA NM_002641.3(PIGA):c.368C>T (p.Thr123Met) SNV Likely pathogenic 432113 rs1555945480 X:15349685-15349685 X:15331563-15331563
17 PIGT NM_015937.6(PIGT):c.1072G>A (p.Val358Met) SNV Uncertain significance 977934 20:44050061-44050061 20:45421421-45421421
18 PIGA NM_002641.3(PIGA):c.1048C>T (p.Pro350Ser) SNV Uncertain significance 471950 rs372966902 X:15342927-15342927 X:15324805-15324805
19 PIGT NM_015937.6(PIGT):c.634C>T (p.His212Tyr) SNV Uncertain significance 417893 rs574183358 20:44048183-44048183 20:45419543-45419543
20 PIGT NM_015937.6(PIGT):c.949A>G (p.Ile317Val) SNV Uncertain significance 547916 rs773624614 20:44049249-44049249 20:45420609-45420609
21 PIGT NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) SNV Uncertain significance 548620 rs1555876854 20:44048151-44048151 20:45419511-45419511

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 PLCG1 PLAUR PLAU HP GFRA1 FCGR3B
2 12.05 FCGR3B CR1 CD14 C3
3
Show member pathways
11.96 CR1 CD59 CD55 C5 C3
4
Show member pathways
11.88 CR1 CD59 CD55 C5 C3
5 11.82 CSF3 CD59 CD14
6 11.77 PLCG1 PLAU CD14
7 11.73 FCGR3B C5 C3
8 11.65 CSF3 CR1 CD59 CD55 CD14
9
Show member pathways
11.63 CD55 C5 C3
10 11.63 PLCG1 FCGR3B CR1 C3
11 11.59 CD14 C5 C3
12 11.57 PLCG1 PLAUR CR1
13 11.44 CR1 CD14 C3
14
Show member pathways
11.43 PLAUR PIGT PIGH PIGA FCGR3B BST1
15 11.39 SERPINC1 PLAUR PLAU CR1 CD59 CD55
16 11.33 PLAUR PLAU HP
17 11.3 PLCG1 PLAUR PLAU
18
Show member pathways
11.22 PIGT PIGH PIGA
19 10.67 PLAUR PLAU

GO Terms for Paroxysmal Nocturnal Hemoglobinuria

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.25 SERPINC1 PLCG1 PLAUR PLAU GFRA1 FCGR3B
2 extracellular space GO:0005615 10.1 SERPINC1 PLAU HP CSF3 CD59 CD14
3 extracellular region GO:0005576 10.1 SERPINC1 PLAUR PLAU HP FCGR3B CSF3
4 extracellular exosome GO:0070062 9.77 SERPINC1 PLAU HP GFRA1 FCGR3B CR1
5 cell surface GO:0009986 9.76 PLAUR PLAU CR1 CD59 CD58 CD55
6 specific granule membrane GO:0035579 9.67 PLAUR PLAU CD59 BST1
7 extrinsic component of membrane GO:0019898 9.65 PLAUR GFRA1 BST1
8 secretory granule membrane GO:0030667 9.65 FCGR3B CR1 CD58 CD55 CD14
9 ficolin-1-rich granule membrane GO:0101003 9.58 CR1 CD58 CD55
10 anchored component of external side of plasma membrane GO:0031362 9.51 CD59 CD14
11 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 9.46 PIGH PIGA
12 anchored component of membrane GO:0031225 9.17 PLAUR GFRA1 FCGR3B CD59 CD55 CD14

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.99 HP CR1 CD55 CD14 C5 C3
2 innate immune response GO:0045087 9.93 CR1 CD55 CD14 C5 C3
3 blood coagulation GO:0007596 9.8 SERPINC1 PLAUR PLAU CD59
4 cell surface receptor signaling pathway GO:0007166 9.8 GFRA1 FCGR3B CD59 CD14 C5
5 complement activation, classical pathway GO:0006958 9.73 CR1 CD55 C5 C3
6 fibrinolysis GO:0042730 9.55 PLAUR PLAU
7 preassembly of GPI anchor in ER membrane GO:0016254 9.52 PIGH PIGA
8 GPI anchor biosynthetic process GO:0006506 9.5 PIGT PIGH PIGA
9 regulation of complement-dependent cytotoxicity GO:1903659 9.48 CD59 CD55
10 negative regulation of complement activation GO:0045916 9.46 CR1 CD55
11 negative regulation of activation of membrane attack complex GO:0001971 9.37 CR1 CD59
12 neutrophil degranulation GO:0043312 9.36 PLAUR PLAU HP FCGR3B CR1 CD59
13 regulation of complement activation GO:0030449 9.35 CR1 CD59 CD55 C5 C3
14 complement activation, alternative pathway GO:0006957 9.33 CR1 C5 C3
15 positive regulation of activation of membrane attack complex GO:0001970 9.26 CR1 C3

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 for Paroxysmal Nocturnal Hemoglobinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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