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MCID: HML002
MIFTS: 62

Hemolytic Anemia

Categories: Blood diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hemolytic Anemia

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MalaCards integrated aliases for Hemolytic Anemia:

Name: Hemolytic Anemia 12 29 6 15 37 62 17
Anemia, Hemolytic 44 39 71
Anemia Hemolytic 12 54

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:583
MeSH 44 D000743
NCIt 50 C34376
SNOMED-CT 67 61261009
ICD10 32 D55-D59
UMLS 71 C0002878
Sources

Summaries for Hemolytic Anemia

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PubMed Health : 62 About hemolytic anemia: Hemolytic anemia (HEE-moh-lit-ick uh-NEE-me-uh) is a condition in which red blood cells are destroyed and removed from the bloodstream before their normal lifespan is over. Red blood cells are disc-shaped and look like doughnuts without holes in the center. These cells carry oxygen to your body. They also remove carbon dioxide (a waste product) from your body. Red blood cells are made in the bone marrow—a sponge-like tissue inside the bones. They live for about 120 days in the bloodstream and then die. White blood cells and platelets (PLATE-lets) also are made in the bone marrow. White blood cells help fight infections. Platelets stick together to seal small cuts or breaks on blood vessel walls and stop bleeding. When blood cells die, the body's bone marrow makes more blood cells to replace them. However, in hemolytic anemia, the bone marrow can't make red blood cells fast enough to meet the body's needs. Hemolytic anemia can lead to many health problems, such as fatigue (tiredness), pain, irregular heartbeats called arrhythmias (ah-RITH-me-ahs), an enlarged heart, and heart failure.

MalaCards based summary : Hemolytic Anemia, also known as anemia, hemolytic, is related to pyruvate kinase deficiency of red cells and congenital hemolytic anemia, and has symptoms including icterus An important gene associated with Hemolytic Anemia is SPTB (Spectrin Beta, Erythrocytic), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Tacrolimus and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and spleen, and related phenotypes are Decreased simian virus 40 (SV40) infection and hematopoietic system

Wikipedia : 74 Hemolytic anemia is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells (RBCs),... more...

Sources

Related Diseases for Hemolytic Anemia

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Diseases in the Hemolytic Anemia family:

Anemia, Autoimmune Hemolytic Congenital Hemolytic Anemia
Rare Acquired Hemolytic Anemia Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction
Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder Hemolytic Anemia Due to a Disorder of Glycolytic Enzymes
Hemolytic Anemia Due to Hexose Monophosphate Shunt and Glutathione Metabolism Anomalies Rare Hemolytic Anemia

Diseases related to Hemolytic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1032)
# Related Disease Score Top Affiliating Genes
1 pyruvate kinase deficiency of red cells 33.5 PKLR PIEZO1 G6PD
2 congenital hemolytic anemia 33.2 SPTB SPTA1 SLC4A1 PKLR PIEZO1 HBB
3 glucosephosphate dehydrogenase deficiency 33.2 SLC4A1 PKLR HBB G6PD
4 hereditary spherocytosis 33.1 SPTB SPTA1 SLC4A1 RHAG PKLR PIEZO1
5 congenital nonspherocytic hemolytic anemia 33.1 PKLR PIEZO1 PGK1 NT5C3A GPI G6PD
6 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 32.9 SPTA1 SLC4A1 PIEZO1 EPB42
7 glutamate-cysteine ligase deficiency 32.8 SPTA1 SLC4A1 RHAG PKLR PIEZO1 GCLC
8 deficiency anemia 32.7 SPTB SPTA1 SLC4A1 PKLR LOC106099062 HBB
9 pyropoikilocytosis, hereditary 32.6 SPTB SPTA1
10 glutathione synthetase deficiency 32.4 GSS G6PD
11 hereditary elliptocytosis 32.3 SPTB SPTA1 SLC4A1 RHAG PIEZO1 HBB
12 spherocytosis, type 2 32.2 SPTB SPTA1 HBB
13 hemoglobin zurich 32.0 LOC106099062 HBB
14 methemoglobinemia 31.6 LOC106099062 HBB G6PD
15 glucosephosphate isomerase deficiency 31.5 GPI G6PD
16 neonatal jaundice 31.4 SPTA1 PKLR G6PD ADAMTS13
17 hemoglobinopathy 31.4 LOC106099062 HBB G6PD
18 sickle cell disease 31.3 LOC106099062 HBB G6PD
19 hemochromatosis, type 1 31.2 SPTA1 PKLR PIEZO1 HBB
20 beta-thalassemia 31.2 SPTB SPTA1 SLC4A1 LOC106099062 HBB G6PD
21 splenic sequestration 31.1 HBB ADAMTS13
22 hereditary stomatocytosis 31.0 SLC4A1 RHAG PIEZO1
23 malaria 30.9 SPTA1 SLC4A1 PKLR PIEZO1 LOC106099062 HBB
24 kernicterus 30.7 SLC4A1 G6PD
25 blood group incompatibility 30.6 SLC4A1 G6PD
26 beta-thalassemia intermedia 30.6 LOC106099062 HBB
27 hemoglobin c disease 30.6 LOC106099062 HBB
28 hemoglobin e disease 30.5 LOC106099062 HBB
29 hemoglobin h disease 30.4 HBB G6PD AK1
30 beta-thalassemia major 30.4 LOC106099062 HBB
31 beta-thalassemia, dominant inclusion body type 30.2 LOC106099062 HBB
32 anemia, autoimmune hemolytic 12.0
33 hemolytic anemia, nonspherocytic, due to hexokinase deficiency 11.7
34 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 11.7
35 thrombotic thrombocytopenic purpura, hereditary 11.7
36 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to 11.7
37 adenylate kinase deficiency, hemolytic anemia due to 11.7
38 warm antibody hemolytic anemia 11.7
39 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to 11.6
40 hemolytic anemia, congenital, x-linked 11.6
41 glut1 deficiency syndrome 2 11.6
42 hemolytic anemia due to glutathione reductase deficiency 11.6
43 anemia, nonspherocytic hemolytic, due to g6pd deficiency 11.6
44 renal tubular acidosis, distal, 4, with hemolytic anemia 11.6
45 triosephosphate isomerase deficiency 11.6
46 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 11.6
47 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 11.6
48 paroxysmal cold hemoglobinuria 11.5
49 phosphoglycerate kinase 1 deficiency 11.5
50 evans' syndrome 11.5

Graphical network of the top 20 diseases related to Hemolytic Anemia:



Diseases related to Hemolytic Anemia
Sources

Symptoms & Phenotypes for Hemolytic Anemia

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UMLS symptoms related to Hemolytic Anemia:


icterus

GenomeRNAi Phenotypes related to Hemolytic Anemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased simian virus 40 (SV40) infection GR00356-A-2 8.32 PGK1

MGI Mouse Phenotypes related to Hemolytic Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.77 ADAMTS13 ALDOA CD59 EPB42 G6PD GPI
2 homeostasis/metabolism MP:0005376 9.47 ADAMTS13 AK1 CD59 EPB42 G6PD GCLC
Sources

Drugs & Therapeutics for Hemolytic Anemia

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PubMed Health treatment related to Hemolytic Anemia: 62

Treatments for hemolytic anemia include blood transfusions , medicines, plasmapheresis (PLAZ-meh-feh-RE-sis), surgery , blood and marrow stem cell transplants , and lifestyle changes. People who have mild hemolytic anemia may not need treatment , as long as the condition doesn't worsen. People who have severe hemolytic anemia usually need ongoing treatment. Severe hemolytic anemia can be fatal if it's not properly treated.

Drugs for Hemolytic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 119)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
2 Immunologic Factors Phase 4
3 Immunosuppressive Agents Phase 4
4 Calcineurin Inhibitors Phase 4
5
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
6 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
7
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
8
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
9
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
10
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
11
Ribavirin Approved Phase 3 36791-04-5 37542
12
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
13 Protective Agents Phase 3
14 Antineoplastic Agents, Immunological Phase 2, Phase 3
15 Methylprednisolone Acetate Phase 3
16 Anti-Inflammatory Agents Phase 3
17 Neuroprotective Agents Phase 3
18 Antirheumatic Agents Phase 3
19 Antineoplastic Agents, Hormonal Phase 3
20 glucocorticoids Phase 3
21 Anti-Infective Agents Phase 3
22 interferons Phase 3
23 Antimetabolites Phase 3
24 Antiviral Agents Phase 3
25 Interferon-alpha Phase 3
26 pyruvate Phase 3
27 Immunoglobulins Phase 3
28 Antibodies Phase 3
29 Autoantibodies Phase 3
30 Pharmaceutical Solutions Phase 3
31 Agglutinins Phase 3
32
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
33
Lactitol Approved, Investigational Phase 1, Phase 2 585-86-4 157355
34
Aldesleukin Approved Phase 1, Phase 2 110942-02-4, 85898-30-2
35
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
36
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
37
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
38
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
39
Lenograstim Approved, Investigational Phase 2 135968-09-1
40
Iron Approved Phase 2 7439-89-6 23925 29936
41
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381 214348
42
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
43
Acyclovir Approved Phase 2 59277-89-3 2022
44
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
45
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
46
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
47
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
48
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
49
Famotidine Approved Phase 1, Phase 2 76824-35-6 3325
50
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6, 75614-87-8 774

Interventional clinical trials:

(show top 50) (show all 73)
# Name Status NCT ID Phase Drugs
1 Tacrolimus Treatment for Refractory Autoimmune Cytopenia Recruiting NCT03918265 Phase 4 Tacrolimus
2 Anti-CD20 Antibody Rituximab in Addition to Prednisolone in Treatment of Warm Antibody Related Autoimmune Hemolytic Anemia. A Randomised Danish Multicenter Trial. Completed NCT01134432 Phase 3 prednisolone + mabthera;Prednisolone
3 Rituximab in Adult's Warm Auto-Immune Hemolytic Anemia : a Phase III, Double-bind, Randomised Placebo-controlled Trial Completed NCT01181154 Phase 3 rituximab (Mabthera®);Placebo
4 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of AG-348 in Not Regularly Transfused Adult Subjects With Pyruvate Kinase Deficiency Completed NCT03548220 Phase 3 AG-348;Placebo
5 An Open-Label Study To Evaluate the Efficacy and Safety of AG-348 in Regularly Transfused Adult Subjects With Pyruvate Kinase (PK) Deficiency Completed NCT03559699 Phase 3 AG-348
6 Low Doses of Alemtuzumab and Rituximab in the Treatment of Refractory Autoimmune Cytopenias Completed NCT00749112 Phase 2, Phase 3 Alemtuzumab, Rituximab
7 Combination of Alpha Interferon With Long Term Ribavirin Therapy for Patients With Chronic Hepatitis C Completed NCT00001729 Phase 3 Ribavirin
8 A Phase 3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Study of Fostamatinib Disodium in the Treatment of Warm Antibody Autoimmune Hemolytic Anemia Recruiting NCT03764618 Phase 3 Fostamatinib disodium;Placebo
9 Efficacy and Safety of M281 in Adults With Warm Autoimmune Hemolytic Anemia: A Multicenter, Randomized, Double-blind, Placebo-controlled Study Recruiting NCT04119050 Phase 2, Phase 3 M281;Placebo
10 A Phase 3 Open Label Extension Study of Fostamatinib Disodium in the Treatment of Warm Antibody Autoimmune Hemolytic Anemia Active, not recruiting NCT04138927 Phase 3 Fostamatinib disodium
11 An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies Active, not recruiting NCT03853798 Phase 3 AG-348
12 A Phase 3, Pivotal, Open-label, Multicenter Study to Assess the Efficacy and Safety of Sutimlimab in Patients With Primary Cold Agglutinin Disease Who Have a Recent History of Blood Transfusion Active, not recruiting NCT03347396 Phase 3 Sutimlimab
13 A Phase 3, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy and Safety of Sutimlimab in Patients With Primary Cold Agglutinin Disease Without a Recent History of Blood Transfusion Active, not recruiting NCT03347422 Phase 3 sutimlimab (BIVV009);placebo
14 Efficacy and Safety of Levamisole Combined With Standard Prednisolone in Warm Antibody Autoimmune Hemolytic Anemia. Unknown status NCT01579110 Phase 2 levamisole;Prednisone
15 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
16 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
17 A Single-Arm Pilot Study With Low-Dose Rituximab Plus Standard Oral Prednisone In Idiopathic Autoimmune Hemolytic Anemia Completed NCT01345708 Phase 2 prednisone, low dose rituximab
18 " Anemil Trial ": Phase I/II Clinical Trial Evaluating the Interest of Interleukine-2 for Patients With Active Warm Hemolytic Anemia Resistant to Conventional Treatment Completed NCT02389231 Phase 1, Phase 2 Interleukine-2
19 CHOP Plus Rituximab (CHOP-R) in Fludarabine Refractory Chronic Lymphocytic Leukemia (CLL) or CLL With Autoimmune Haemolytic Anemia (AIHA) or Richter's Transformation (RT) Completed NCT00309881 Phase 2 cyclophosphamide;doxorubicin hydrochloride;prednisone;vincristine sulfate
20 The CAD5 Study::Therapy for Chronic Cold Agglutinin Disease: A Prospective, Non-randomized International Multicenter Trial on the Safety and Efficacy of Bendamustine and Rituximab Combination Therapy Completed NCT02689986 Phase 2 Bendamustine, Rituximab
21 Sirolimus for Patients With Chronic and/or Refractory Autoimmune Cytopenias: A Pilot Series Completed NCT00392951 Phase 1, Phase 2 sirolimus
22 Phase II Study of High-Dose Cyclophosphamide in Patients With Severe Autoimmune Hematologic Disease Completed NCT00010387 Phase 2 cyclophosphamide;filgrastim
23 A Randomized, Open-label, Multi-center, Phase II Study to Evaluate the Safety and Efficacy of Deferasirox (ICL670) 20 mg/kg/Day Relative to Subcutaneous Deferoxamine in Sickle Cell Disease Patients With Iron Overload From Repeated Blood Transfusions Completed NCT00110617 Phase 2 Deferasirox (ICL670);Deferoxamine (DFO)
24 Therapy for Chronic Cold Agglutinin Disease: A Prospective, Non-Randomized Multi-Center Study Demonstrating the Efficacy of Terminal Complement Inhibition in Patients With Cold Agglutinin Disease Using Eculizumab Completed NCT01303952 Phase 2 Eculizumab
25 Therapy for Chronic Cold Agglutinin Disease: A Prospective, Non-randomized International Multicentre Study on the Safety and Efficacy of Rituximab in Combination With Fludarabine. Completed NCT00373594 Phase 2 Rituximab;Fludarabine
26 Short Course of Bortezomib in Anemic Patients With Refractory Cold Agglutinin Disease Completed NCT01696474 Phase 2 Bortezomib
27 A Phase 2, Open-Label Study of INCB050465 in Participants With Autoimmune Hemolytic Anemia Recruiting NCT03538041 Phase 2 Parsaclisib
28 A Phase 2 Trial of Acalabrutinib for the Treatment of Relapsed/Refractory Autoimmune Hemolytic Anemia Recruiting NCT04657094 Phase 2 Acalabrutinib
29 An Open, One-arm, Prospective Study of a Single Dose Anti-CD20 Monoclonal Antibody Combined With Bortezomib for Treatment of Relapsed Refractory Autoimmune Hemolytic Anemia Recruiting NCT04083014 Phase 2 combination of a single dose anti-CD20 antibody and bortezomib
30 Nonmyeloablative Allogeneic Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation For Severe Congenital Anemias Including Sickle Cell Disease (SCD) and Beta-Thalassemia Recruiting NCT00061568 Phase 1, Phase 2 Alemtuzumab;Sirolimus
31 A Phase II, Single-Center, Open-label Trial to Determine the Safety and Efficacy of Ibrutinib in Refractory/Relapsed Autoimmune Hemolytic Recruiting NCT04398459 Phase 2 Ibrutinib
32 Daily Vitamin D for Sickle-cell Respiratory Complications Recruiting NCT04170348 Phase 2 Daily oral vitamin D3, 3,333 IU;Bolus oral vitamin D3, 100,000 IU;Placebo oral tablet
33 Evaluation of the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Long-term Mitapivat Dosing in Subjects With Stable Sickle Cell Disease: An Extension of a Phase I Pilot Study of Mitapivat Recruiting NCT04610866 Phase 1, Phase 2 Mitapivat
34 A Phase 2, Multi-Center, Open Label, Simon Two-Stage Study to Evaluate the Safety and Efficacy of Fostamatinib Disodium in the Treatment of Warm Antibody Autoimmune Hemolytic Anemia Active, not recruiting NCT02612558 Phase 2 Fostamatinib 150 mg bid
35 Ibrutinib in Steroid Refractory Autoimmune Hemolytic Anemia: ELaboration of Treatment Approach Active, not recruiting NCT03827603 Phase 2 Ibrutinib
36 An Open Label, Prospective, Study to Assess the Safety, Tolerability, Efficacy and Pharmacokinetics of APL-2 in Patients With Warm Type Autoimmune Hemolytic Anemia (wAIHA) or Cold Agglutinin Disease (CAD) Active, not recruiting NCT03226678 Phase 2 APL-2
37 A Phase 2, Open Label, Randomized, Dose Ranging, Safety, Efficacy, Pharmacokinetic and Pharmacodynamic Study of AG-348 in Adult Patients With Pyruvate Kinase Deficiency Active, not recruiting NCT02476916 Phase 2 AG-348
38 A Phase 2, Open-Label, Repeat Dose Study to Assess the Safety, Tolerability, Pharmacokinetics (PK) and Pharmacodynamics (PD) of Intravenous ANX005 in Subjects With Warm Autoimmune Hemolytic Anemia (wAIHA) Not yet recruiting NCT04691570 Phase 2 ANX005
39 A Multicenter, Open-label, Non-randomized, Phase 1b/2 Study to Evaluate the Safety, Pharmacokinetics, and Efficacy of Subcutaneous Isatuximab in Adults With Warm Autoimmune Hemolytic Anemia Not yet recruiting NCT04661033 Phase 1, Phase 2 Isatuximab SAR650984;Diphenhydramine;Famotidine;Acetaminophen;Montelukast
40 An Explananatory, Proof-of-concept Study of Senicapoc in Patients With Familial Dehydrated Stomatocytosis Caused by the V282M Mutation in the Gardos (KCNN4) Channel Not yet recruiting NCT04372498 Phase 1, Phase 2 Senicapoc (synonyms: ICA-17043; 2,2-bis-(4-fluorophenyl)-2-phenylacetamide)
41 A Phase 2, Multicenter, Non-Randomized, Open-Label Study of RVT-1401 for the Treatment of Patients With Warm Autoimmune Hemolytic Anemia Suspended NCT04253236 Phase 2 RVT-1401 680 mg/weekly;RVT-1401 340 mg/weekly
42 A Phase 1B/2, Multicenter, Open-Label, Safety, Tolerability, and Activity Study of SYNT001 in Patients With Warm Autoimmune Hemolytic Anemia (WAIHA) Terminated NCT03075878 Phase 1, Phase 2 ALXN1830
43 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Study of ALXN1830 in Patients With Warm Autoimmune Hemolytic Anemia Withdrawn NCT04256148 Phase 2
44 A Phase 2 Randomized, Dose-blind, Multicenter Study to Evaluate the Safety and Efficacy of KZR-616 in the Treatment of Patients With Autoimmune Hemolytic Anemia (AIHA) and Immune Thrombocytopenia (ITP) Withdrawn NCT04039477 Phase 2 KZR-616
45 A Prospective Open-label Trial to Assess the Efficacy and Safety of Ixazomib and Dexamethasone in Patients With Refractory Autoimmune Cytopenia Withdrawn NCT03965624 Phase 2 Ninlaro
46 High-Dose Cyclophosphamide With CD34+ Selected Autologous Hematopoietic Cell Support for Treatment of Refractory Chronic Autoimmune Thrombocytopenia Completed NCT00001630 Phase 1
47 Gene Therapy for Pyruvate Kinase Deficiency (PKD): A Phase I Clinical Trial to Evaluate the Safety of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the Codon Optimized Red Cell Pyruvate Kinase (coRPK) Gene in Adult and Pediatric Subjects With PKD Recruiting NCT04105166 Phase 1
48 A Multicenter, Phase 1b, Open Label, Nonrandomized, Single Dose Study Evaluating the Safety, Tolerability and Activity of BIVV020 in Adults With Cold Agglutinin Disease Recruiting NCT04269551 Phase 1 BIVV020
49 Safety, Tolerability and Activity of BIVV009 in Healthy Volunteers and Patients With Complement-mediated Disorders. A Single/Multiple Ascending Dose Phase 1 Study. Active, not recruiting NCT02502903 Phase 1 BIV009
50 Immunopathology of Autoimmune Hemolytic Anemia: an Open, Prospective and Multicenter Study Unknown status NCT02158195

Search NIH Clinical Center for Hemolytic Anemia

Inferred drug relations via UMLS 71 / NDF-RT 51 :


alpha-Tocopherol Acetate
d-alpha-Tocopheryl Acetate
dl-alpha tocopheryl acetate
Tocopherol Acetate
TOCOPHEROL,DL-ALPHA
Tocopherols
TOCOPHERYL ACID SUCCINATE
TOCOPHERYL ACID SUCCINATE,D-ALPHA
Vitamin E

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Hemolytic Anemia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Hemolytic Anemia:
Hematopoietic stem cell transplantation for the treatment of genetic blood cell-related diseases
Embryonic/Adult Cultured Cells Related to Hemolytic Anemia:
Bone marrow-derived hematopoietic stem cells (family)
Umbilical cord blood-derived hematopoietic stem cells (family)

Cochrane evidence based reviews: anemia, hemolytic

Sources

Genetic Tests for Hemolytic Anemia

About this section

Genetic tests related to Hemolytic Anemia:

# Genetic test Affiliating Genes
1 Hemolytic Anemia 29
Sources

Anatomical Context for Hemolytic Anemia

About this section

MalaCards organs/tissues related to Hemolytic Anemia:

40
Bone Marrow, Bone, Spleen, Heart, Endothelial, Myeloid, Liver
Sources

Publications for Hemolytic Anemia

About this section

Articles related to Hemolytic Anemia:

(show top 50) (show all 13537)
# Title Authors PMID Year
1
Hemoglobin Sendagi (beta 42 Phe----Val): a new unstable hemoglobin variant having an amino acid substitution at CD1 of the beta-chain. 6 61
3781864 1986
2
Hemoglobin Louisville (beta-42 (CD1) phe-leu): an unstable variant causing mild hemolytic anemia. 6 61
5096522 1971
3
Hb south Milwaukee [beta 105 (G7) Leu----Phe]: a newly-identified hemoglobin variant with high oxygen affinity. 6
2363414 1990
4
A new Spanish family with Hb Louisville. 6
2705488 1989
5
Haemoglobin BuccureĹźti 42(CD1) Phe-Leu, a cause of unstable haemoglobin haemolytic anaemia. 6
5133275 1971
6
Gastrointestinal and hepatic complications of sickle cell disease. 54 61
20215064 2010
7
Glucose-6-phosphate dehydrogenase and red cell pyruvate kinase deficiency in neonatal jaundice cases in egypt. 61 54
20426517 2010
8
Aseptic meningitis, hemolytic anemia, hepatitis, and orthostatic hypotension in a patient treated with trimethoprim-sulfamethoxazole. 61 54
20065266 2010
9
Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians. 61 54
20007901 2009
10
Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme. 61 54
19755962 2009
11
Adenosine deaminase-adenosine pathway in hemolysis-associated pulmonary hypertension. 61 54
19237250 2009
12
Early erythropoietin reduced the need for red blood cell transfusion in childhood hemolytic uremic syndrome: a randomized prospective pilot trial. 54 61
19085014 2009
13
Sickle cell anemia in northern Israel: screening and prevention. 54 61
19603597 2009
14
A hemolysis trigger in glucose-6-phosphate dehydrogenase enzyme deficiency. Vicia sativa (Vetch). 54 61
19198723 2009
15
A case of cold agglutinin disease in the course of treatment for polymyalgia rheumatica. 61 54
19340395 2009
16
Brucellosis triggering hemolytic anemia in glucose-6-phosphate dehydrogenase deficiency. 61 54
19494543 2009
17
Glucose-6-phosphate dehydrogenase deficiency associated stuttering priapism: report of a case. 61 54
18823322 2008
18
A novel G6PD mutation leading to chronic hemolytic anemia. 54 61
18677765 2008
19
Heme induces endothelial tissue factor expression: potential role in hemostatic activation in patients with hemolytic anemia. 54 61
18983524 2008
20
Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies. 61 54
18266205 2008
21
Degradation of functional triose phosphate isomerase protein underlies sugarkill pathology. 61 54
18458110 2008
22
Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits. 54 61
18371543 2008
23
Crystal structure of a core domain of stomatin from Pyrococcus horikoshii Illustrates a novel trimeric and coiled-coil fold. 61 54
18182167 2008
24
Restoration of the balanced alpha/beta-globin gene expression in beta654-thalassemia mice using combined RNAi and antisense RNA approach. 54 61
17716993 2007
25
Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency. 54 61
17661373 2007
26
Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin. 61 54
18024385 2007
27
Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance. 54 61
17554061 2007
28
Seven different glucose-6-phosphate dehydrogenase variants including a new variant distributed in Lam Dong Province in southern Vietnam. 61 54
17726510 2007
29
Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency. 54 61
17550844 2007
30
In vitro and in vivo expression of human erythrocyte pyruvate kinase in erythroid cells: a gene therapy approach. 61 54
17547515 2007
31
Cardiac hypertrophy in anion exchanger 1-null mutant mice with severe hemolytic anemia. 54 61
17056673 2007
32
Inborn errors in the metabolism of glutathione. 54 61
17397529 2007
33
Thrombotic microangiopathy in a sirolimus-treated renal transplant patient receiving gemcitabine for lung cancer. 54 61
17338432 2007
34
Improved quantitative method for G6PD deficiency detection. 54 61
17385678 2007
35
Glucose-6-phosphate dehydrogenase--from oxidative stress to cellular functions and degenerative diseases. 61 54
17623517 2007
36
Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia. 54 61
17041899 2006
37
Monoclonal anti-double-stranded DNA antibodies cross-react with phosphoglycerate kinase 1 and inhibit the expression and production of IL-2 in activated Jurkat T cell line. 54 61
16857429 2006
38
Two new mutations of the P5'N-1 gene found in Italian patients with hereditary hemolytic anemia: the molecular basis of the red cell enzyme disorder. 54 61
16956825 2006
39
Haptoglobin levels are associated with haptoglobin genotype and alpha+ -Thalassemia in a malaria-endemic area. 61 54
16760505 2006
40
Reactivity of blood samples spotted onto filter papers in the WST-8 method for screening of G6PD deficiency. 61 54
16680190 2006
41
G6PD deficiency with hemolytic anemia due to a rare gene deletion--a report of the first case in Malaysia. 54 61
16753852 2006
42
Rh proteins: key structural and functional components of the red cell membrane. 54 61
15961204 2006
43
Hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency: a biochemical, genetic and clinical overview. 54 61
16522554 2006
44
New insights into paroxysmal nocturnal hemoglobinuria. 61 54
17124035 2006
45
Complications related to dapsone use for Pneumocystis jirovecii pneumonia prophylaxis in solid organ transplant recipients. 61 54
16212642 2005
46
Hemolysis and methemoglobinemia secondary to rasburicase administration. 61 54
16204390 2005
47
An adult with acute poststreptococcal glomerulonephritis complicated by hemolytic uremic syndrome and nephrotic syndrome. 54 61
16183409 2005
48
Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression. 61 54
15870173 2005
49
Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis. 61 54
16079115 2005
50
Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation. 54 61
15949716 2005
Sources

Variations for Hemolytic Anemia

About this section

ClinVar genetic disease variations for Hemolytic Anemia:

6 (show top 50) (show all 141)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LOC106099062 NM_000518.5(HBB):c.127T>C (p.Phe43Leu) SNV Pathogenic 15251 rs33924146 11:5247995-5247995 11:5226765-5226765
2 LOC106099062 NM_000518.4(HBB):c.127T>G (p.Phe43Val) SNV Pathogenic 15347 rs33924146 11:5247995-5247995 11:5226765-5226765
3 SPTB NM_001355436.2(SPTB):c.5794_5798+6del Deletion Pathogenic 523359 rs1555367318 14:65237597-65237607 14:64770879-64770889
4 PKLR NM_000298.6(PKLR):c.1291G>A (p.Ala431Thr) SNV Likely pathogenic 812888 rs762591322 1:155263113-155263113 1:155293322-155293322
5 SPTA1 NM_003126.4(SPTA1):c.6549-12G>A SNV Likely pathogenic 258955 rs857716 1:158587390-158587390 1:158617600-158617600
6 SPTA1 NM_003126.4(SPTA1):c.6531-12C>T SNV Likely pathogenic 258954 rs28525570 1:158587858-158587858 1:158618068-158618068
7 SPTA1 NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) SNV Likely pathogenic 258948 rs3737515 1:158597507-158597507 1:158627717-158627717
8 SPTA1 NM_003126.4(SPTA1):c.4177C>T (p.Gln1393Ter) SNV Likely pathogenic 812889 rs1571436535 1:158614995-158614995 1:158645205-158645205
9 SPTA1 NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter) SNV Likely pathogenic 812891 rs2022057 1:158632603-158632603 1:158662813-158662813
10 GPI NM_000175.5(GPI):c.572A>G (p.His191Arg) SNV Likely pathogenic 811712 rs758281551 19:34868725-34868725 19:34377820-34377820
11 SLC4A1 NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys) SNV Uncertain significance 323519 rs13306787 17:42338150-42338150 17:44260782-44260782
12 SLC4A1 NM_000342.4(SLC4A1):c.*351G>T SNV Uncertain significance 323495 rs138242019 17:42327475-42327475 17:44250107-44250107
13 SLC4A1 NM_000342.4(SLC4A1):c.*977G>A SNV Uncertain significance 323489 rs886052993 17:42326849-42326849 17:44249481-44249481
14 SLC4A1 NM_000342.4(SLC4A1):c.1431+13T>G SNV Uncertain significance 323509 rs747632229 17:42335014-42335014 17:44257646-44257646
15 G6PD NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu) SNV Uncertain significance 374205 rs1057518975 X:153760973-153760973 X:154532758-154532758
16 SLC4A1 NM_000342.4(SLC4A1):c.344C>T (p.Thr115Ile) SNV Uncertain significance 888575 17:42338008-42338008 17:44260640-44260640
17 SLC4A1 NM_000342.4(SLC4A1):c.*1596A>C SNV Uncertain significance 323480 rs886052990 17:42326230-42326230 17:44248862-44248862
18 SLC4A1 NM_000342.4(SLC4A1):c.876+14G>A SNV Uncertain significance 323513 rs571092411 17:42336517-42336517 17:44259149-44259149
19 SLC4A1 NM_000342.4(SLC4A1):c.*1606_*1608dup Duplication Uncertain significance 323478 rs57466226 17:42326217-42326218 17:44248849-44248850
20 SLC4A1 NM_000342.4(SLC4A1):c.*1608dup Duplication Uncertain significance 323477 rs57466226 17:42326217-42326218 17:44248849-44248850
21 SLC4A1 NM_000342.4(SLC4A1):c.*872G>C SNV Uncertain significance 323492 rs886052994 17:42326954-42326954 17:44249586-44249586
22 SLC4A1 NM_000342.4(SLC4A1):c.2482-9C>T SNV Uncertain significance 323502 rs886052995 17:42328709-42328709 17:44251341-44251341
23 SLC4A1 NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) SNV Uncertain significance 64423 rs201265160 17:42327861-42327861 17:44250493-44250493
24 SLC4A1 NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys) SNV Uncertain significance 323520 rs368863744 17:42338179-42338179 17:44260811-44260811
25 SLC4A1 NM_000342.4(SLC4A1):c.1431+15G>T SNV Uncertain significance 323508 rs886052999 17:42335012-42335012 17:44257644-44257644
26 SLC4A1 NM_000342.4(SLC4A1):c.*1273G>T SNV Uncertain significance 323484 rs769140134 17:42326553-42326553 17:44249185-44249185
27 SLC4A1 NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr) SNV Uncertain significance 323501 rs765911147 17:42328552-42328552 17:44251184-44251184
28 SLC4A1 NM_000342.4(SLC4A1):c.*1316C>T SNV Uncertain significance 323482 rs886052991 17:42326510-42326510 17:44249142-44249142
29 SLC4A1 NM_000342.4(SLC4A1):c.1637A>G (p.Asp546Gly) SNV Uncertain significance 323507 rs886052998 17:42333204-42333204 17:44255836-44255836
30 SLC4A1 NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile) SNV Uncertain significance 323511 rs201821517 17:42335411-42335411 17:44258043-44258043
31 SLC4A1 NM_000342.4(SLC4A1):c.*1198A>T SNV Uncertain significance 323487 rs886052992 17:42326628-42326628 17:44249260-44249260
32 SLC4A1 NM_000342.4(SLC4A1):c.-65C>A SNV Uncertain significance 323523 rs886053001 17:42340299-42340299 17:44262931-44262931
33 SLC4A1 NM_000342.4(SLC4A1):c.*1676A>G SNV Uncertain significance 323476 rs745898810 17:42326150-42326150 17:44248782-44248782
34 SLC4A1 NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=) SNV Uncertain significance 323505 rs766674440 17:42330589-42330589 17:44253221-44253221
35 SLC4A1 NM_000342.4(SLC4A1):c.636A>G (p.Ser212=) SNV Uncertain significance 323515 rs886053000 17:42336923-42336923 17:44259555-44259555
36 SLC4A1 NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val) SNV Uncertain significance 323504 rs886052997 17:42330587-42330587 17:44253219-44253219
37 SLC4A1 NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly) SNV Uncertain significance 323514 rs779054292 17:42336710-42336710 17:44259342-44259342
38 SLC4A1 NM_000342.4(SLC4A1):c.*1832G>A SNV Uncertain significance 323474 rs886052988 17:42325994-42325994 17:44248626-44248626
39 SLC4A1 NM_000342.4(SLC4A1):c.*1273del Deletion Uncertain significance 323483 rs768606768 17:42326553-42326553 17:44249185-44249185
40 SLC4A1 NM_000342.4(SLC4A1):c.*1608del Deletion Uncertain significance 323479 rs57466226 17:42326218-42326218 17:44248850-44248850
41 SLC4A1 NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu) SNV Uncertain significance 323503 rs886052996 17:42330554-42330554 17:44253186-44253186
42 SLC4A1 NM_000342.4(SLC4A1):c.*1693G>A SNV Uncertain significance 889077 17:42326133-42326133 17:44248765-44248765
43 SLC4A1 NM_000342.4(SLC4A1):c.*753C>T SNV Uncertain significance 889211 17:42327073-42327073 17:44249705-44249705
44 SLC4A1 NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg) SNV Uncertain significance 889392 17:42328867-42328867 17:44251499-44251499
45 SLC4A1 NM_000342.4(SLC4A1):c.1928C>T (p.Ser643Phe) SNV Uncertain significance 889445 17:42331993-42331993 17:44254625-44254625
46 SLC4A1 NM_000342.4(SLC4A1):c.1202T>G (p.Phe401Cys) SNV Uncertain significance 889517 17:42335434-42335434 17:44258066-44258066
47 SLC4A1 NM_000342.4(SLC4A1):c.719C>T (p.Pro240Leu) SNV Uncertain significance 889578 17:42336688-42336688 17:44259320-44259320
48 SLC4A1 NM_000342.4(SLC4A1):c.706T>G (p.Phe236Val) SNV Uncertain significance 889579 17:42336701-42336701 17:44259333-44259333
49 SLC4A1 NM_000342.4(SLC4A1):c.697C>T (p.Arg233Cys) SNV Uncertain significance 889580 17:42336710-42336710 17:44259342-44259342
50 SLC4A1 NM_000342.4(SLC4A1):c.*1609C>T SNV Uncertain significance 889776 17:42326217-42326217 17:44248849-44248849
Sources

Expression for Hemolytic Anemia

About this section
Search GEO for disease gene expression data for Hemolytic Anemia.
Sources

Pathways for Hemolytic Anemia

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Pathways related to Hemolytic Anemia according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.79 SLC4A1 RHAG PKLR PGK1 NT5C3A HK1
2
Glycosaminoglycan metabolism 65
Show member pathways
 12.63 PKLR PGK1 HK1 GPI G6PD ALDOA
3
Glucose metabolism 65
Show member pathways
 12.43 PKLR PGK1 HK1 GPI ALDOA
4
Glucose / Energy Metabolism 4
12.33 HK1 HBB G6PD ALDOA
5
Biosynthesis of cofactors 36
Show member pathways
 11.96 PKLR GSS GCLC AK1
6
Carbon metabolism 36
Show member pathways
 11.76 PKLR PGK1 HK1 GPI G6PD ALDOA
7
HIF-1 signaling pathway 36
11.74 PGK1 HK1 ALDOA
8
Citrate cycle (TCA cycle) 36
Show member pathways
 11.57 PKLR PGK1 HK1 ALDOA
9
Pentose phosphate pathway 36 1 1
Show member pathways
 11.48 GPI G6PD ALDOA
10
HIF-1-alpha transcription factor network 1
11.47 PGK1 HK1 ALDOA
11
Erythrocytes take up carbon dioxide and release oxygen 65
Show member pathways
 11.09 SLC4A1 RHAG HBB
12
Abacavir Pathway, Pharmacokinetics/Pharmacodynamics 60
10.62 PKLR PGK1
13
Cori Cycle 1
10.13 PGK1 HK1 GPI G6PD
14
Pentose Phosphate Pathway (Erythrocyte), Pharmacodynamics 60
10.11 HK1 GPI G6PD
Sources

GO Terms for Hemolytic Anemia

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Cellular components related to Hemolytic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.13 SPTB SPTA1 PKLR PGK1 NT5C3A HK1
2 extracellular exosome GO:0070062 9.65 SLC4A1 PKLR PGK1 HBB GSS GPI
3 ficolin-1-rich granule lumen GO:1904813 9.61 HBB GPI ALDOA
4 cytoplasmic side of plasma membrane GO:0009898 9.43 SPTA1 SLC4A1 G6PD
5 spectrin GO:0008091 9.4 SPTB SPTA1
6 spectrin-associated cytoskeleton GO:0014731 9.37 SPTB SPTA1
7 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.16 SPTB SPTA1
8 cortical cytoskeleton GO:0030863 8.8 SPTA1 SLC4A1 EPB42

Biological processes related to Hemolytic Anemia according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.76 PKLR HK1 GPI G6PD
2 blood coagulation GO:0007596 9.73 SLC4A1 HBB CD59 ADAMTS13
3 actin filament capping GO:0051693 9.54 SPTB SPTA1
4 gluconeogenesis GO:0006094 9.54 PGK1 GPI ALDOA
5 ion homeostasis GO:0050801 9.52 SLC4A1 EPB42
6 glutathione biosynthetic process GO:0006750 9.51 GSS GCLC
7 bicarbonate transport GO:0015701 9.5 SLC4A1 RHAG HBB
8 erythrocyte maturation GO:0043249 9.49 G6PD EPB42
9 response to xenobiotic stimulus GO:0009410 9.48 GSS GCLC
10 response to cadmium ion GO:0046686 9.43 GSS GPI GCLC
11 cellular ion homeostasis GO:0006873 9.4 SLC4A1 RHAG
12 glycolytic process GO:0006096 9.35 PKLR PGK1 HK1 GPI ALDOA
13 glucose 6-phosphate metabolic process GO:0051156 9.33 HK1 GPI G6PD
14 canonical glycolysis GO:0061621 9.02 PKLR PGK1 HK1 GPI ALDOA

Molecular functions related to Hemolytic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.91 PKLR PGK1 HK1 GSS GCLC EPB42
2 structural constituent of cytoskeleton GO:0005200 9.5 SPTB SPTA1 EPB42
3 magnesium ion binding GO:0000287 9.46 PKLR NT5C3A GSS GCLC
4 glucose binding GO:0005536 9.26 HK1 G6PD
5 hemoglobin binding GO:0030492 8.96 SLC4A1 HBB
6 ankyrin binding GO:0030506 8.8 SPTB SLC4A1 RHAG
Sources

Sources for Hemolytic Anemia

About this section
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
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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