MCID: APL001
MIFTS: 74

Aplastic Anemia

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Bone diseases

Aliases & Classifications for Aplastic Anemia

MalaCards integrated aliases for Aplastic Anemia:

Name: Aplastic Anemia 53 37 12 72 49 71 36 28 13 13 40 14 69 59
Idiopathic Aplastic Anemia 49 55
Secondary Aplastic Anemia 49 69
Anemia Aplastic 49 51
Aplastic Anemia, Susceptibility to 53
Idiopathic Bone Marrow Failure 55
Aplastic Anemia, Idiopathic 69
Aplastic Anemia Idiopathic 49
Anemia, Aplastic 41
Aa 71

Characteristics:

Orphanet epidemiological data:

55
idiopathic aplastic anemia
Age of onset: Adult; Age of death: adult;

Classifications:



External Ids:

OMIM 53 609135
Disease Ontology 12 DOID:12449
ICD9CM 34 284.9
MeSH 41 D000741
NCIt 46 C2870
Orphanet 55 ORPHA88
MESH via Orphanet 42 C538494
UMLS via Orphanet 70 C0348890
ICD10 via Orphanet 33 D61.0
KEGG 36 H01132

Summaries for Aplastic Anemia

NIH Rare Diseases : 49 Aplastic anemia is a blood disorder caused by failure of the bone marrow to make enough new blood cells. Bone marrow is a sponge-like tissue inside the bones that makes stem cells that develop into red blood cells, white blood cells, and platelets. Symptoms may include fatigue, weakness, dizziness, shortness of breath, frequent infections, and bleeding. Aplastic anemia can lead to other health concerns such as an irregular heartbeat, an enlarged heart, and heart failure. It can be caused by injury to blood stem cells due to exposure to certain drugs, chemotherapy, congenital disorders, drug therapy to suppress the immune system, pregnancy, radiation therapy, or toxins such as benzene or arsenic. When the cause is unknown, it is referred to as idiopathic aplastic anemia. In about half of all cases, no cause can be found. The blood disorder can be acute or chronic. Treatment may consist of supportive care only, blood transfusions, medicines to suppress the immune system, or hematopoietic cell transplantation.  The British Committee for Standards in Haematology recommends treating infection or uncontrolled bleeding before administering immunosuppressive therapy, including in patients scheduled for HCT. In the presence of severe infection, however, it may be necessary to proceed directly to HCT to provide the patient with the best chance for early neutrophil recovery.  The Pediatric Haemato-Oncology Italian Association recommends HCT from a matched sibling donor for severe aplastic anemia, and if a matched donor is not available, options include immunosuppressive therapy or unrelated donor HCT. Approximately one third of patients with aplastic anemia do not respond to immunosuppression. The thrombopoietin-receptor agonist eltrombopag is approved for use in patients with severe aplastic anemia who fail to respond adequately to immunosuppressive therapy. Independent of response or degree of response, risks include  relapse and late-onset clonal disease, such as paroxysmal nocturnal hemoglobinuria (PNH), myelodysplastic syndrome (MDS), or leukemia. [14, 38, 39, 40, 41] Pregnant women with aplastic anemia have a 33% risk of relapse. Provide supportive care in these patients, maintain the platelet count above 20 × 109/L, if possible, and consider administering cyclosporine. Note that monotherapy with hematopoietic growth factors (eg, recombinant human erythropoietin [rHuEPO], granulocyte colony-stimulating factor [G-CSF]) is not recommended for newly diagnosed patients. Frequent outpatient follow-up for patients with aplastic anemia is needed to monitor blood counts and any adverse effects of various drugs. Transfusions of packed red blood cells (RBCs) and platelets are administered on an outpatient basis. Last updated: 7/5/2017

MalaCards based summary : Aplastic Anemia, also known as idiopathic aplastic anemia, is related to pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 and dyskeratosis congenita, autosomal dominant 6, and has symptoms including bone marrow hypocellularity, edema and chest pain. An important gene associated with Aplastic Anemia is PRF1 (Perforin 1), and among its related pathways/superpathways are Osteoclast differentiation and Antigen processing and presentation. The drugs Benzocaine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, and related phenotypes are hematopoietic system and cellular

Disease Ontology : 12 An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.

OMIM : 53 Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002). (609135)

MedlinePlus : 40 Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't make enough new blood cells. There are different types, including Fanconi anemia. Causes include Toxic substances, such as pesticides, arsenic, and benzene Radiation therapy and chemotherapy for cancer Certain medicines Infections such as hepatitis, Epstein-Barr virus, or HIV Autoimmune disorders Certain inherited conditions Pregnancy In many people, the cause is unknown. Symptoms include fatigue, weakness, dizziness, and shortness of breath. It can cause heart problems such as an irregular heartbeat, an enlarged heart, and heart failure. You may also have frequent infections and bleeding. Your doctor will diagnose aplastic anemia based on your medical and family histories, a physical exam, and test results. Once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you. Treatments include blood transfusions, blood and marrow stem cell transplants, and medicines. NIH: National Heart, Lung, and Blood Institute

UniProtKB/Swiss-Prot : 71 Aplastic anemia: A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia.

PubMed Health : 59
About aplastic anemia: Aplastic anemia (a-PLAS-tik uh-NEE-me-uh) is a blood disorder in which the body's bone marrow doesn't make enough new blood cells. Bone marrow is a sponge-like tissue inside the bones. It makes stem cells that develop into red blood cells, white blood cells, and platelets (PLATE-lets).Red blood cells carry oxygen to all parts of your body. They also carry carbon dioxide (a waste product) to your lungs to be exhaled. White blood cells help your body fight infections. Platelets are blood cell fragments that stick together to seal small cuts or breaks on blood vessel walls and stop bleeding.It's normal for blood cells to die. The lifespan of red blood cells is about 120 days. White blood cells live less than a day. Platelets live about 6 days. As a result, your bone marrow must constantly make new blood cells.If your bone marrow can't make enough new blood cells, many health problems can occur. These problems include irregular heartbeats called arrhythmias (ah-RITH-me-ahs), an enlarged heart, heart failure, infections, and bleeding. Severe aplastic anemia can even cause death.

Wikipedia : 72 Aplastic anemia is a rare disease in which the bone marrow and the hematopoietic stem cells that reside... more...

Related Diseases for Aplastic Anemia

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

(show top 50) (show all 279)
# Related Disease Score Top Affiliating Genes
1 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 33.7 NBN PRF1 SBDS TERC TERT TINF2
2 dyskeratosis congenita, autosomal dominant 6 33.3 MPL THPO
3 paroxysmal nocturnal hemoglobinuria 33.1 CD55 CD59 PIGA
4 revesz syndrome 32.9 DKC1 TINF2
5 amegakaryocytic thrombocytopenia, congenital 32.8 IL3 MPL THPO
6 dyskeratosis congenita 32.7 CSF2 DKC1 EPO NHP2 NOP10 TERC
7 dyskeratosis congenita, autosomal recessive 1 32.6 NHP2 NOP10 TERT
8 hemoglobinuria 31.7 CD55 CD59 PIGA
9 refractory anemia 31.3 EPO IL3 MPL
10 myelodysplastic syndrome 31.2 CD55 CD59 CSF2 EPO IL3 KITLG
11 fanconi anemia, complementation group a 31.1 DKC1 IL3 KITLG NBN TERC
12 leukemia, acute myeloid 30.9 CSF2 IFNG IL3 KITLG MPL TERT
13 fusariosis 30.7 DKC1 IFNG
14 transient erythroblastopenia of childhood 30.6 EPO KITLG
15 hemophagocytic lymphohistiocytosis 30.6 IFNG PRF1 SH2D1A
16 pancytopenia 30.5 CSF2 DKC1 EPO MPL SH2D1A TERT
17 essential thrombocythemia 30.4 EPO IL3 MPL THPO
18 myelofibrosis 30.3 EPO IL3 MPL THPO
19 leukemia, chronic myeloid 30.3 CSF2 EPO IL3 KITLG MPL THPO
20 diamond-blackfan anemia 30.2 CSF2 EPO IL3 KITLG MPL THPO
21 thrombocytopenia due to platelet alloimmunization 29.9 MPL THPO
22 amyloidosis aa 12.4
23 helsmoortel-van der aa syndrome 12.3
24 retinopathy aplastic anemia neurological abnormalities 12.1
25 bone marrow failure syndrome 1 11.9
26 congenital hypoplastic anemia 11.8
27 alopecia areata 11.8
28 adnp syndrome 11.7
29 williams-beuren region duplication syndrome 11.5
30 eosinophilic fasciitis 11.3
31 immunodeficiency 21 11.3
32 renal nutcracker syndrome 11.1
33 sveinsson chorioretinal atrophy 11.1
34 aarskog-scott syndrome 11.1
35 dyskeratosis congenita, autosomal dominant 2 11.1
36 dyskeratosis congenita, autosomal dominant 3 11.1
37 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.1
38 dyskeratosis congenita, autosomal recessive 5 11.1
39 superior mesenteric artery syndrome 11.0
40 7q11.23 duplication syndrome 11.0
41 lymphoproliferative syndrome, x-linked, 1 10.9
42 dyskeratosis congenita, autosomal recessive 2 10.9
43 dyskeratosis congenita, autosomal recessive 3 10.9
44 dyskeratosis congenita, autosomal recessive 6 10.9
45 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 10.9
46 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.9
47 deficiency anemia 10.9
48 myelophthisic anemia 10.9
49 sideroblastic anemia 10.9
50 littoral cell angioma of the spleen 10.9

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



Diseases related to Aplastic Anemia

Symptoms & Phenotypes for Aplastic Anemia

Clinical features from OMIM:

609135

Human phenotypes related to Aplastic Anemia:

31
# Description HPO Frequency HPO Source Accession
1 bone marrow hypocellularity 31 HP:0005528
2 aplastic anemia 31 HP:0001915

UMLS symptoms related to Aplastic Anemia:


edema, chest pain, angina pectoris

MGI Mouse Phenotypes related to Aplastic Anemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.33 DKC1 EPO IFNG KITLG MPL NBN
2 cellular MP:0005384 10.29 CD59 CSF2 DKC1 EPO IFNG KITLG
3 immune system MP:0005387 10.2 CD55 CSF2 DKC1 EPO IFNG KITLG
4 homeostasis/metabolism MP:0005376 10.18 CD59 CSF2 DKC1 EPO IFNG KITLG
5 embryo MP:0005380 10.11 CSF2 DKC1 EPO IFNG KITLG MPL
6 endocrine/exocrine gland MP:0005379 10.09 CD59 CSF2 IFNG KITLG NBN PRF1
7 mortality/aging MP:0010768 10 EPO IFNG KITLG MPL NBN NHP2
8 integument MP:0010771 9.86 CSF2 DKC1 EPO IFNG KITLG PIGA
9 neoplasm MP:0002006 9.56 CSF2 DKC1 IFNG KITLG NBN PIGA
10 reproductive system MP:0005389 9.32 KITLG NBN PIGA PRF1 TERT TINF2

Drugs & Therapeutics for Aplastic Anemia

PubMedHealth treatment related to Aplastic Anemia: 59

Treatments for aplastic anemia include blood transfusions, blood and marrow stem cell transplants, and medicines. These treatments can prevent or limit complications, relieve symptoms, and improve quality of life.Blood and marrow stem cell transplants may cure the disorder in some people who are eligible for a transplant. Removing a known cause of aplastic anemia, such as exposure to a toxin, also may cure the condition.

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

(show top 50) (show all 193)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
2
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
3
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 135968-09-1
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
5
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
6
Deferasirox Approved, Investigational Phase 4,Phase 2 201530-41-8 5493381
7
Iron Approved Phase 4,Phase 2 7439-89-6 23925
8
Etanercept Approved, Investigational Phase 4 185243-69-0
9
Posaconazole Approved, Investigational, Vet_approved Phase 4,Phase 2 171228-49-2 147912
10
Radium Ra 223 dichloride Approved, Investigational Phase 4 444811-40-9
11
Mechlorethamine Approved, Investigational Phase 4,Phase 2 51-75-2 4033
12 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
13
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
14
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
15
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 10883523 5280795 6221
16
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
17 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
18 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
21 Calcineurin Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
22 Cyclosporins Phase 4,Phase 3,Phase 2,Phase 1
23 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1
24 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
25 Antibodies Phase 4,Phase 2,Phase 1
26 Immunoglobulins Phase 4,Phase 2,Phase 1
27 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
28 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Phase 1
29 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
30 Antilymphocyte Serum Phase 4,Phase 3,Phase 2,Phase 1
31 Antiparasitic Agents Phase 4,Phase 2
32 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
33 Hormones Phase 4,Phase 2,Phase 3,Phase 1
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
35 Chelating Agents Phase 4,Phase 2
36 Iron Chelating Agents Phase 4,Phase 2
37 Epoetin alfa Phase 4 113427-24-0
38 Hematinics Phase 4
39 Analgesics Phase 4
40 Analgesics, Non-Narcotic Phase 4
41 Anti-Inflammatory Agents, Non-Steroidal Phase 4
42 Antiprotozoal Agents Phase 4,Phase 2
43 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 2
44 Steroid Synthesis Inhibitors Phase 4,Phase 2
45 Micronutrients Phase 4,Phase 2
46 Trace Elements Phase 4,Phase 2
47 Vitamins Phase 4
48 Anticoagulants Phase 4,Phase 3
49 Calcium, Dietary Phase 4,Phase 3
50 Ferric Compounds Phase 4

Interventional clinical trials:

(show top 50) (show all 253)

# Name Status NCT ID Phase Drugs
1 Moderate-dose Cyclophosphamide for Childhood Acquired Aplastic Anemia Unknown status NCT01995331 Phase 4 cyclophosphamide,cyclosporine A
2 Different Doses of Anti-thymocyte Globin to Treat Child Severe Aplastic Anemia Unknown status NCT01997372 Phase 4 ATG
3 Treatment Protocol of Child SAA With the Injection of Mesenchymal Stem Cells(Umbilical Cord Derived) Unknown status NCT02218437 Phase 4 MSC+ATG
4 Safety and Efficacy of Exjade in the Treatment of Transfusion-dependent Iron Overload in Aplastic Anemia Patients Completed NCT01818726 Phase 4 ICL670A and standard immunosupressive therapy (Cyclosporine A);Immunosupressive therapy (Cyclosporine A)
5 Safety and Efficacy of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia Completed NCT01546415 Phase 4 Desferasirox
6 Surveillance Study to Estimate the Incidence of Pure Red Blood Cell Aplasia Among Patients With Chronic Kidney Failure Completed NCT00391287 Phase 4
7 Study Evaluating the Efficacy of Enbrel (Etanercept) in Subjects in Japan Completed NCT00503503 Phase 4 Enbrel (etanercept)
8 The Efficacy of Immunosuppressive Therapy Combined With Cord Blood Transfusion in Treatment of Severe Aplastic Anemia Recruiting NCT02745717 Phase 4 Thymoglobuline® and oral CSA
9 Ferric Citrate in ESRD Pilot Project Recruiting NCT03055598 Phase 4 Ferric Citrate
10 Radium-223 Dichloride Long-term Follow-up Program Active, not recruiting NCT02312960 Phase 4
11 ATG Combined With Cyclophosphamide And Cord Blood Transfusion in Treating Patients With Severe Aplastic Anemia Not yet recruiting NCT02838992 Phase 4 Rabbit ATG, (Genzyme);Cy;CsA
12 Eltrombopag in Children With Idiopathic Aplastic Anemia Not yet recruiting NCT03243656 Phase 4 Eltrombopag
13 King's Invasive Aspergillosis Study II Not yet recruiting NCT02875743 Phase 4 Posaconazole
14 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
15 Comparison of Cy-Atg vs Flu-Atg for the Conditioning Therapy in Allo-HCT for Adult Aplastic Anemia Unknown status NCT01145976 Phase 3 Cy-ATG;Flu-ATG
16 Randomised Study Comparing Different Dosages of Rabbit ATG in Patients With SAA Unknown status NCT01844635 Phase 3 Thymoglobulin
17 Comparing Therapies for the Treatment of Severe Aplastic Anemia Completed NCT00001626 Phase 3 Antithymocyte globulin & Cyclosporin A;Cyclophosphamide & Cyclosporin A
18 Phase III Randomized Study of Cyclophosphamide With or Without Antithymocyte Globulin Before Bone Marrow Transplantation in Patients With Aplastic Anemia Completed NCT00004474 Phase 3 Anti-thymocyte globulin;Cyclophosphamide
19 Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA Completed NCT00455312 Phase 2, Phase 3 Campath 1H;Cyclophosphamide;Fludarabine;antithymocyte globulin;Methylprednisolone
20 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
21 Eculizumab to Treat Paroxysmal Nocturnal Hemoglobinuria Completed NCT00098280 Phase 3 Eculizumab
22 High Dose Cyclophosphamide for Treatment of Scleroderma Completed NCT00501995 Phase 3 IV Cyclophosphamide
23 Efficacy and Safety of Eltrombopag + CSA in Patients With Moderate Aplastic Anemia (EMAA) Recruiting NCT02773225 Phase 2, Phase 3 Eltrombopag;Placebo (for Eltrombopag)
24 Eltrombopag+hATG+CsA vs. hATG+CsA in Children With Severe AA Recruiting NCT03413306 Phase 3 Eltrombopag;IST (ATG + CsA)
25 hATG+CsA vs hATG+CsA+Eltrombopag for SAA Recruiting NCT02099747 Phase 3 hATG;CsA;Eltrombopag
26 Transfusion Strategy in Hematological Intensive Care Unit Recruiting NCT02461264 Phase 3 Single red blood packed cells Transfusion;Two packed red blood cells Transfusion
27 Study of Romiplostim(AMG531) in Subjects With Aplastic Anemia Active, not recruiting NCT02773290 Phase 2, Phase 3
28 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
29 Randomized Study In Severe Aplastic Anemia Patients Receiving Atg, Cyclosporin A, With Or Without G-CSF (SAA-G-CSF) Terminated NCT01163942 Phase 3 G-CSF;Early retreatment with ATG
30 Trial of Two Central Venous Catheter (CVC) Flushing Schemes in Pediatric Hematology and Oncology Patients Terminated NCT01343680 Phase 3 Heparin;Normal saline
31 A Study of Eltrombopag or Placebo in Combination With Azacitidine in Subjects With International Prognostic Scoring System (IPSS) Intermediate-1, Intermediate-2 or High-risk Myelodysplastic Syndromes (MDS) Terminated NCT02158936 Phase 3 Eltrombopag;Azacitidine;Placebo;Placebo
32 Safety and Efficacy of Patient's Own AD-MSC and AD-HSC Transplantation in Patients With Severe Aplastic Anemia Unknown status NCT02407470 Phase 1, Phase 2 Rabbit antithymoglobulin (ATG)
33 Study of Fludarabine + Cyclophosphamide + TBI Conditioning Regimen for Double Units Cord Blood Transplantation(CBT)in Severe Aplastic Anemia(SAA) Unknown status NCT00881933 Phase 1, Phase 2
34 Mesenchymal Stem Cells Co-transplantation in Alternative Donor Transplantation of Severe Aplastic Anemia. Unknown status NCT02247973 Phase 2
35 Haploidentical Stem Cell Transplantation for Children With Acquired Severe Aplastic Anemia Unknown status NCT01759732 Phase 2 Fludarabine;Cyclophosphamide
36 Reduced Toxicity Fludarabine (Flu) + Cyclophosphamide (CPM) + Rabbit Antithymocyte Globulin (rATG) Conditioning Regimen for Unrelated Donor Transplantation in Severe Aplastic Anemia (SAA) Unknown status NCT00882323 Phase 2 Cyclophosphamide, Fludarabine, Thymoglobulin
37 Rabbit Antithymocyte Globulin (Thymoglobuline) With Ciclosporin for Patients With Acquired Aplastic Anaemia Unknown status NCT00471848 Phase 2 rabbit antithymocyte globulin
38 Mesenchymal Stem Cells Transplantation to Patients With Relapsed/Refractory Aplastic Anemia. Unknown status NCT01305694 Phase 1, Phase 2
39 Alemtuzumab and Low-Dose Cyclosporine in Treating Patients With Severe Aplastic Anemia or Acquired Marrow Failure Unknown status NCT00895739 Phase 2 cyclosporine
40 Safety and Efficacy Study of Umbilical Cord/Placenta-Derived Mesenchymal Stem Cells to Treat Severe Aplastic Anemia Unknown status NCT01182662 Phase 2
41 Safety and Efficacy Study of Ex Vivo Immunotherapy for Treatment of Aplastic Anemia Unknown status NCT00399971 Phase 1, Phase 2 Ex vivo immunotherapy
42 Flu+CPM+rATG Conditioning Regimes for Unrelated Bone Marrow Transplantation (UBMT)(or Mobilized Peripheral Blood)in Severe Aplastic Anemia (SAA) Unknown status NCT00737685 Phase 2 cyclophosphamide, fludarabine , thymoglobulin
43 Sirolimus and Cyclosporine for Treatment-Resistant Aplastic Anemia Unknown status NCT00319878 Phase 1, Phase 2 Sirolimus;Cyclosporine
44 Umbilical Cord Blood and Placental Blood Transplantation in Treating Patients With Hematologic Cancer or Aplastic Anemia Unknown status NCT00008164 Phase 2
45 Nandrolone Decanoate in the Treatment of Telomeropathies Unknown status NCT02055456 Phase 1, Phase 2 Nandrolone Decanoate
46 Effectiveness and Safety of MMSCs for Enhancing Hematopoietic Recovery and Prophylaxis of Neutropenic Enterocolitis Unknown status NCT02145923 Phase 1, Phase 2 High-dose chemotherapy;Bone marrow derived allogeneic MMSCs infusion
47 Safety Study of CD3/CD19 Depleted Haploidentical Stem Cells Unknown status NCT01919866 Phase 1, Phase 2
48 Pharmacokinetic Study of Fludarabine in Pediatric Hematopoietic Stem Cell Transplantation Unknown status NCT01472055 Phase 2 Fludarabine
49 Russian Clinical Trial of Mesenchymal Cells in Patients With Septic Shock and Severe Neutropenia Unknown status NCT01849237 Phase 1, Phase 2 Standard therapy of septic shock
50 Open-label Clinical Trial to Investigate the Safety and Tolerability of Allogeneic B-cell Concentrates for Immune Reconstitution After Allogeneic Stem Cell Transplantation Measured as Response to a Antedated Single Vaccination Unknown status NCT02007811 Phase 1, Phase 2

Search NIH Clinical Center for Aplastic Anemia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Aplastic Anemia cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: anemia, aplastic

Genetic Tests for Aplastic Anemia

Genetic tests related to Aplastic Anemia:

# Genetic test Affiliating Genes
1 Aplastic Anemia 28 IFNG NBN PRF1 SBDS TERT

Anatomical Context for Aplastic Anemia

MalaCards organs/tissues related to Aplastic Anemia:

38
Bone, Bone Marrow, Heart, T Cells, Lung, Neutrophil, Kidney

Publications for Aplastic Anemia

Articles related to Aplastic Anemia:

(show top 50) (show all 1092)
# Title Authors Year
1
Aplastic anemia secondary to propylthiouracil: A rare and life-threatening adverse effect. ( 29357782 )
2018
2
Nationwide survey on the use of horse antithymocyte globulins (ATGAM) in patients with acquired aplastic anemia: A report on behalf of the French Reference Center for Aplastic Anemia. ( 29377260 )
2018
3
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors. ( 29374141 )
2018
4
Combined intensive immunosuppression and eculizumab for aplastic anemia in the context of hemolytic paroxysmal nocturnal hemoglobinuria: a retrospective analysis. ( 29131151 )
2018
5
Allogeneic Matched Related Donor Bone Marrow Transplantation for Pediatric Patients With Severe Aplastic Anemia Using "Low-dose" Cyclophosphamide, ATG Plus Fludarabine. ( 29432302 )
2018
6
Skin Induration in a Patient with Aplastic Anemia. ( 29381836 )
2018
7
Efficacy and safety of combined immunosuppressive therapy plus umbilical cord blood infusion in severe aplastic anemia patients: A cohort study. ( 29434791 )
2018
8
Deep sequencing and flow cytometric characterization of expanded effector memory CD8+CD57+ T cells frequently reveals T-cell receptor VI^ oligoclonality and CDR3 homology in acquired aplastic anemia. ( 29419434 )
2018
9
A composite mouse model of aplastic anemia complicated with iron overload. ( 29434729 )
2018
10
Hepatitis A, cardiomyopathy, aplastic anemia, and acute liver failure: A devastating scenario. ( 29359844 )
2018
11
Sex-specific analysis post-liver transplantation in hemochromatosis with aplastic anemia and hepatocellular carcinoma. ( 29404507 )
2018
12
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML. ( 29416752 )
2018
13
Danazol increases T regulatory cells in patients with aplastic anemia. ( 29415633 )
2018
14
Acquired amegakaryocytic thrombocytopenia and red cell aplasia in a patient with thymoma progressing to aplastic anemia successfully treated with allogenic stem cell transplantation. ( 29409729 )
2018
15
Influence of genetic polymorphisms of IL23R, STAT3, IL12B, and STAT4 on the risk of aplastic anemia and the effect of immunosuppressive therapy. ( 29330562 )
2018
16
Optimal donor for severe aplastic anemia patient requiring allogeneic hematopoietic stem cell transplantation: A large-sample study from China. ( 29410500 )
2018
17
Celiac disease associated with aplastic anemia in a 6-year-old girl: a case report and review of the literature. ( 29361973 )
2018
18
Acute hepatitis as a prequel to very severe aplastic anemia. ( 29316578 )
2018
19
Mesenchymal Stem Cell Benefits Observed in Bone Marrow Failure and Acquired Aplastic Anemia. ( 29333168 )
2017
20
Development of a disease-specific quality of life questionnaire for patients with aplastic anemia and/or paroxysmal nocturnal hemoglobinuria (QLQ-AA/PNH)-report on phases I and II. ( 27837250 )
2017
21
Outcome of Second Transplantation Using Umbilical Cord Blood for Graft Failure after Allogeneic Hematopoietic Stem Cell Transplantation for Aplastic Anemia. ( 28844947 )
2017
22
Effect of antithymocyte globulin source on outcomes of bone marrow transplantation for severe aplastic anemia. ( 28341733 )
2017
23
Associations between the HLA-A/B/DRB1 polymorphisms and aplastic anemia: evidence from 17 case-control studies. ( 28902578 )
2017
24
Zaimoku Y, Takamatsu H, Hosomichi K, et al. Identification of an HLA class I allele closely involved in the autoantigen presentation in acquired aplastic anemia. Blood. 2017;129(21):2908-2916. ( 28838943 )
2017
25
Novel deletion mutation of HLA-B*40:02 gene in acquired aplastic anemia. ( 28025876 )
2017
26
Trend and treatment patterns of aplastic anemia in Korea, pure red cell aplasia and myelodysplastic syndrome in Korea: a nation-wide analysis. ( 28664500 )
2017
27
Chinese Herbal Formula, Modified Danggui Buxue Tang, Attenuates Apoptosis of Hematopoietic Stem Cells in Immune-Mediated Aplastic Anemia Mouse Model. ( 28951880 )
2017
28
Predictors of early mortality after rabbit antithymocyte globulin as first-line treatment in severe aplastic anemia. ( 28815305 )
2017
29
Transforming growth factor 15 increased in severe aplastic anemia patients. ( 28385068 )
2017
30
Induced Pluripotent Stem Cell Technology: A Window for Studying the Pathogenesis of Acquired Aplastic Anemia and Possible Applications. ( 28062362 )
2017
31
Immune reconstitution in patients with acquired severe aplastic anemia after haploidentical stem cell transplantation. ( 28805792 )
2017
32
TRAIL in CD8+ T cells from patients with severe aplastic anemia. ( 28631177 )
2017
33
Post-therapeutic recovery of serum interleukin-35 level might predict positive response to immunosuppressive therapy in pediatric aplastic anemia. ( 28211781 )
2017
34
Clinical outcomes in adult patients with aplastic anemia: A single institution experience. ( 28850699 )
2017
35
From chronic immune thrombocytopenia to severe aplastic anemia: recent insights into the evolution of eltrombopag. ( 28473904 )
2017
36
Persistent elevation of plasma thrombopoietin levels after treatment in severe aplastic anemia. ( 28941711 )
2017
37
Outcomes of allogeneic stem cell transplantation in patients with paroxysmal nocturnal hemoglobinuria with or without aplastic anemia. ( 28675769 )
2017
38
Cotransplantation of bone marrow-derived mesenchymal stem cells in haploidentical hematopoietic stem cell transplantation in patients with severe aplastic anemia: an interim summary for a multicenter phase II trial results. ( 28067873 )
2017
39
T cell costimulation blockade promotes transplantation tolerance in combination with sirolimus and post-transplantation cyclophosphamide for haploidentical transplantation in children with severe aplastic anemia. ( 28802588 )
2017
40
Allogeneic Bone Marrow-Derived Mesenchymal Stromal Cells Expanded In Vitro for Treatment of Aplastic Anemia: A Multicenter Phase II Trial. ( 28504860 )
2017
41
Severe Aplastic Anemia during Osimertinib TherapyA in a Patient withA EGFR Tyrosine KinaseA Inhibitor-Resistant Non-Small Cell Lung Cancer. ( 28434513 )
2017
42
Association of aplastic anemia and FoxP3 gene polymorphisms in Koreans. ( 27702400 )
2017
43
Epstein-Barr Virus-associated Lymphoproliferative Disorder with Encephalitis Following Anti-thymocyte Globulin for Aplastic Anemia Resolved with Rituximab Therapy: A Case Report and Literature Review. ( 28321074 )
2017
44
Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia. ( 28443261 )
2017
45
Erythroid response during iron chelation therapy in a cohort of patients affected by hematologic malignancies and aplastic anemia with transfusion requirement and iron overload: a FISM Italian multicenter retrospective study. ( 28482720 )
2017
46
Myelodysplasia and acute myeloid leukemia fifteen years after high-dose cyclophosphamide in a child with severe aplastic anemia. ( 28270348 )
2017
47
Yin and Yang of mesenchymal stem cells and aplastic anemia. ( 29321823 )
2017
48
Lethal aplastic anemia caused by dual immune checkpoint blockade in metastatic melanoma. ( 28407116 )
2017
49
Nivolumab-induced aplastic anemia: A case report and literature review. ( 28825374 )
2017
50
Acquired Amegakaryocytic Thrombocytopenic Purpura Progressing into Aplastic Anemia. ( 29324222 )
2017

Variations for Aplastic Anemia

UniProtKB/Swiss-Prot genetic disease variations for Aplastic Anemia:

71
# Symbol AA change Variation ID SNP ID
1 TERT p.His412Tyr VAR_025149 rs34094720
2 TERT p.Ala202Thr VAR_036863 rs121918661
3 TERT p.Val694Met VAR_036866 rs121918662
4 TERT p.Lys570Asn VAR_062536
5 TERT p.Gly682Asp VAR_062537 rs199422295
6 TERT p.Thr726Met VAR_062539 rs149566858
7 TERT p.Arg631Gln VAR_062783 rs199422294
8 TERT p.Pro785Leu VAR_062784

ClinVar genetic disease variations for Aplastic Anemia:

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 TERT NM_198253.2(TERT): c.2080G> A (p.Val694Met) single nucleotide variant Pathogenic rs121918662 GRCh37 Chromosome 5, 1279456: 1279456
2 TERT NM_198253.2(TERT): c.2315A> G (p.Tyr772Cys) single nucleotide variant Pathogenic rs121918663 GRCh37 Chromosome 5, 1272367: 1272367
3 PRF1 NM_001083116.2(PRF1): c.1163G> T (p.Ser388Ile) single nucleotide variant Pathogenic rs193302875 GRCh37 Chromosome 10, 72358314: 72358314
4 TINF2 NM_001099274.1(TINF2): c.862T> C (p.Phe288Leu) single nucleotide variant Pathogenic rs199422317 GRCh37 Chromosome 14, 24709824: 24709824
5 TERT NM_198253.2(TERT): c.2147C> T (p.Ala716Val) single nucleotide variant Pathogenic rs199422298 GRCh37 Chromosome 5, 1278895: 1278895
6 TERT NM_198253.2(TERT): c.2537A> G (p.Tyr846Cys) single nucleotide variant Pathogenic rs199422302 GRCh37 Chromosome 5, 1268680: 1268680
7 TERT NM_198253.2(TERT): c.2628C> G (p.His876Gln) single nucleotide variant Pathogenic rs199422303 GRCh37 Chromosome 5, 1266605: 1266605
8 TERT NM_198253.2(TERT): c.2935C> T (p.Arg979Trp) single nucleotide variant Pathogenic rs199422305 GRCh37 Chromosome 5, 1260624: 1260624
9 TERT NM_198253.2(TERT): c.3043T> C (p.Cys1015Arg) single nucleotide variant Pathogenic rs199422307 GRCh37 Chromosome 5, 1255516: 1255516
10 TERT NM_198253.2(TERT): c.3184G> A (p.Ala1062Thr) single nucleotide variant risk factor rs35719940 GRCh37 Chromosome 5, 1254594: 1254594
11 TERC NR_001566.1(TERC): n.117A> C single nucleotide variant Pathogenic rs199422273 GRCh37 Chromosome 3, 169482732: 169482732
12 TERC NR_001566.1(TERC): n.178G> A single nucleotide variant Pathogenic rs199422275 GRCh37 Chromosome 3, 169482671: 169482671
13 TERC NR_001566.1(TERC): n.180C> T single nucleotide variant Pathogenic rs199422276 GRCh37 Chromosome 3, 169482669: 169482669
14 TERC NR_001566.1(TERC): n.28_34delGTGGTGG deletion Pathogenic rs199422259 GRCh37 Chromosome 3, 169482815: 169482821
15 TERC NR_001566.1(TERC): n.305G> A single nucleotide variant Pathogenic rs199422279 GRCh37 Chromosome 3, 169482544: 169482544
16 TERC NR_001566.1(TERC): n.322G> A single nucleotide variant Pathogenic rs199422280 GRCh37 Chromosome 3, 169482527: 169482527
17 TERC NR_001566.1(TERC): n.323C> T single nucleotide variant Pathogenic rs199422281 GRCh37 Chromosome 3, 169482526: 169482526
18 TERC NR_001566.1(TERC): n.391_392delCC deletion Pathogenic rs199422283 GRCh37 Chromosome 3, 169482457: 169482458
19 NBN NM_002485.4(NBN): c.2140C> T (p.Arg714Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881864 GRCh38 Chromosome 8, 89943297: 89943297
20 SBDS NM_016038.3(SBDS): c.258+2T> C single nucleotide variant Pathogenic,risk factor rs113993993 GRCh37 Chromosome 7, 66459197: 66459197
21 NBN NM_002485.4(NBN): c.511A> G (p.Ile171Val) single nucleotide variant risk factor rs61754966 GRCh37 Chromosome 8, 90990521: 90990521
22 TERC NR_001566.1(TERC): n.72C> G single nucleotide variant Pathogenic rs199422265 GRCh37 Chromosome 3, 169482777: 169482777
23 TERC NR_001566.1(TERC): n.110_113delGACT deletion Pathogenic rs199422270 GRCh37 Chromosome 3, 169482736: 169482739

Expression for Aplastic Anemia

Search GEO for disease gene expression data for Aplastic Anemia.

Pathways for Aplastic Anemia

Pathways related to Aplastic Anemia according to KEGG:

36
# Name Kegg Source Accession
1 Osteoclast differentiation hsa04380
2 Antigen processing and presentation hsa04612

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1 12.66 EPO IFNG IL3 KITLG TERC TERT
2 12.42 IFNG IL3 KITLG MPL SH2D1A
3
Show member pathways
12.35 CSF2 IFNG IL3 PRF1 SH2D1A
4
Show member pathways
12.11 CSF2 EPO IFNG IL3 MPL THPO
5 11.92 IL3 KITLG TERT THPO
6
Show member pathways
11.76 IL3 NBN TERT TINF2
7 11.69 DKC1 NHP2 NOP10 SBDS
8
Show member pathways
11.59 CSF2 IFNG IL3
9 11.49 CD55 CD59 CSF2 EPO IL3 KITLG
10 11.38 EPO IL3 KITLG
11 11.37 DKC1 IFNG NBN TERT TINF2
12 11.3 CSF2 EPO IL3 KITLG
13 11.29 CD59 CSF2 EPO IFNG IL3 KITLG
14 11.06 CSF2 IFNG IL3

GO Terms for Aplastic Anemia

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.97 DKC1 NBN NHP2 NOP10 SBDS TERT
2 nuclear chromosome, telomeric region GO:0000784 9.62 NBN NHP2 TERT TINF2
3 chromosome, telomeric region GO:0000781 9.58 NBN TERT TINF2
4 Cajal body GO:0015030 9.54 DKC1 NHP2 NOP10
5 nuclear telomere cap complex GO:0000783 9.46 TERT TINF2
6 small nucleolar ribonucleoprotein complex GO:0005732 9.43 NHP2 NOP10
7 box H/ACA snoRNP complex GO:0031429 9.43 DKC1 NHP2 NOP10
8 box H/ACA scaRNP complex GO:0072589 9.33 DKC1 NHP2 NOP10
9 box H/ACA telomerase RNP complex GO:0090661 9.13 DKC1 NHP2 NOP10
10 telomerase holoenzyme complex GO:0005697 8.92 DKC1 NHP2 NOP10 TERT
11 extracellular region GO:0005576 10.13 CD55 CD59 CSF2 EPO IFNG IL3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.96 CSF2 EPO IFNG IL3 KITLG
2 regulation of receptor activity GO:0010469 9.91 CSF2 EPO IFNG IL3 KITLG THPO
3 rRNA processing GO:0006364 9.85 DKC1 NHP2 NOP10 SBDS
4 cell proliferation GO:0008283 9.8 DKC1 EPO KITLG MPL NBN SBDS
5 ribosome biogenesis GO:0042254 9.76 DKC1 NHP2 NOP10 SBDS
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.71 CSF2 EPO IFNG IL3
7 positive regulation of DNA replication GO:0045740 9.62 CSF2 EPO IL3 KITLG
8 embryonic hemopoiesis GO:0035162 9.57 IL3 KITLG
9 pseudouridine synthesis GO:0001522 9.54 DKC1 NOP10
10 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.54 DKC1 NHP2 NOP10
11 positive regulation of interleukin-23 production GO:0032747 9.52 CSF2 IFNG
12 positive regulation of hematopoietic stem cell proliferation GO:1902035 9.51 KITLG THPO
13 positive regulation of killing of cells of other organism GO:0051712 9.49 IFNG PRF1
14 thrombopoietin-mediated signaling pathway GO:0038163 9.48 MPL THPO
15 rRNA pseudouridine synthesis GO:0031118 9.33 DKC1 NHP2 NOP10
16 snRNA pseudouridine synthesis GO:0031120 9.13 DKC1 NHP2 NOP10
17 telomere maintenance via telomerase GO:0007004 8.92 DKC1 NHP2 NOP10 TERT

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.63 CSF2 EPO IFNG IL3 KITLG THPO
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.58 CSF2 IL3 KITLG
3 growth factor activity GO:0008083 9.56 CSF2 IL3 KITLG THPO
4 telomerase activity GO:0003720 9.32 DKC1 TERT
5 box H/ACA snoRNA binding GO:0034513 9.13 DKC1 NHP2 NOP10
6 telomerase RNA binding GO:0070034 8.92 DKC1 NHP2 NOP10 TERT
7 protein binding GO:0005515 10.3 CD55 CD59 CSF2 DKC1 EPO IFNG

Sources for Aplastic Anemia

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