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 54 54 38 12 50 71 29 13 13 41 14 69
Idiopathic Aplastic Anemia 50 56
Secondary Aplastic Anemia 50 69
Anemia Aplastic 50 52
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 29
Pulmonary Fibrosis, Idiopathic 54
Idiopathic Bone Marrow Failure 56
Aplastic Anemia, Idiopathic 69
Aplastic Anemia Idiopathic 50
Anemia, Aplastic 42
Aa 71

Characteristics:

Orphanet epidemiological data:

56
idiopathic aplastic anemia
Age of onset: Adult; Age of death: adult;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
adult onset
variable manifestations


HPO:

32
aplastic anemia:
Onset and clinical course incomplete penetrance adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12449
ICD9CM 35 284.9
MeSH 42 D000741
NCIt 47 C2870
Orphanet 56 ORPHA88
MESH via Orphanet 43 C538494
UMLS via Orphanet 70 C0348890
ICD10 via Orphanet 34 D61.0
MedGen 40 C2684859
UMLS 69 C0002874

Summaries for Aplastic Anemia

NIH Rare Diseases : 50 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 sideroblastic anemia and thrombocytopenia, congenital amegakaryocytic, and has symptoms including cirrhosis, leukemia and premature graying of hair. An important gene associated with Aplastic Anemia is TERC (Telomerase RNA Component), and among its related pathways/superpathways are NF-kappaB Signaling and Immune response Role of DAP12 receptors in NK cells. 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

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.

MedlinePlus : 41 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

OMIM : 54
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)

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

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 in the Aplastic Anemia family:

Aplastic Anemia, Ifng-Related Aplastic Anemia, Prf1-Related

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

(show top 50) (show all 251)
id Related Disease Score Top Affiliating Genes
1 sideroblastic anemia 32.8 CSF2 IL3
2 thrombocytopenia, congenital amegakaryocytic 32.6 IL3 MPL THPO
3 hemolytic anemia 30.5 CSF2 IL3 KITLG MPL THPO
4 pulmonary fibrosis, idiopathic 12.5
5 amyloidosis aa 12.2
6 helsmoortel-van der aa syndrome 12.2
7 pulmonary fibrosis, idiopathic susceptibility 12.0
8 retinopathy aplastic anemia neurological abnormalities 11.9
9 aplastic anemia susceptibility, sbds-related 11.9
10 aplastic anemia, ifng-related 11.9
11 aplastic anemia, prf1-related 11.9
12 alopecia areata 11.7
13 congenital hypoplastic anemia 11.6
14 bone marrow failure syndrome 1 11.6
15 dyskeratosis congenita, autosomal dominant 6 11.5
16 adnp syndrome 11.4
17 paroxysmal nocturnal hemoglobinuria 11.4
18 dyskeratosis congenita 11.2
19 eosinophilic fasciitis 11.2
20 revesz syndrome 11.2
21 congenital megalo-ureter 11.1 DKC1 TERC
22 idiopathic interstitial pneumonia 11.1
23 cleft palate, cardiac defects, and mental retardation 11.1 NHP2 NOP10 TERT
24 sparse hair ptosis mental retardation 11.1 IFNG IL3 TERT
25 insulin-resistant acanthosis nigricans, type a 11.1 SBDS TERC TERT
26 dysmorphism cleft palate loose skin 11.1 DKC1 TERC TERT TINF2
27 dysplastic cortical hyperostosis 11.1 NHP2 NOP10 TERT
28 pontocerebellar hypoplasia type 2b 11.1 EPO IL3 PIGA
29 deafness, autosomal dominant 9 11.1 DKC1 TINF2
30 childhood brain stem glioma 11.1 EPO IFNG THPO
31 adult malignant mesenchymoma 11.1 EPO IFNG IL3
32 olfactory nerve disease 11.0 IL3 KITLG PRF1
33 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 11.0 EPO IL3 THPO
34 hypocalciuric hypercalcemia, type iii 11.0 EPO KITLG
35 mental retardation, x-linked, snyder-robinson type 11.0 CD55 CD59 PIGA
36 parasitic ichthyosporea infectious disease 11.0 DKC1 IFNG
37 dic in newborn 11.0 CSF2 EPO IL3 KITLG
38 benign mammary dysplasia 11.0 CSF2 IL3 KITLG
39 cystic adventitial disease 11.0 CSF2 IL3 KITLG THPO
40 tracheobronchomalacia 11.0 DKC1 TERC
41 renal nutcracker syndrome 11.0
42 dyskeratosis congenita, autosomal recessive 5 11.0
43 dyskeratosis congenita, autosomal dominant 3 11.0
44 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.0
45 dyskeratosis congenita, autosomal dominant 2 11.0
46 gray zone lymphoma 11.0 CD55 CD59 PIGA
47 childhood testicular mixed germ cell tumor 11.0 CD55 CD59 IFNG
48 lacrimal system cancer 11.0 CSF2 EPO IFNG IL3 THPO
49 microcystic adenoma 11.0 CSF2 IL3 KITLG THPO
50 primary systemic mycosis 11.0 CSF2 IFNG

Comorbidity relations with Aplastic Anemia via Phenotypic Disease Network (PDN): (show all 17)


Acquired Thrombocytopenia Active Peptic Ulcer Disease
Acute Cystitis Acute Kidney Failure
Chronic Kidney Failure Decubitus Ulcer
Deficiency Anemia Familial Atrial Fibrillation
Heart Disease Hypothyroidism
Iron Deficiency Anemia Ischemic Heart Disease
Left Ventricular Outflow Tract Obstruction Neutropenia
Osteoporosis Protein-Energy Malnutrition
Sideroblastic Anemia

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



Diseases related to Aplastic Anemia

Symptoms & Phenotypes for Aplastic Anemia

Symptoms via clinical synopsis from OMIM:

54

Hematology:
pancytopenia
bone marrow failure
aplastic anemia

Respiratory- Lung:
pulmonary fibrosis

Neoplasia:
increased risk for cancer
increased risk for myelodysplastic syndrome
increased risk for hematologic cancer, particularly acute myeloid leukemia

Skin Nails & Hair- Hair:
premature graying of the hair

Abdomen- Liver:
cirrhosis (in some)

Laboratory- Abnormalities:
decreased telomere length in lymphocytes


Clinical features from OMIM:

614743 609135

Human phenotypes related to Aplastic Anemia:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 cirrhosis 32 occasional (7.5%) HP:0001394
2 leukemia 32 HP:0001909
3 premature graying of hair 32 HP:0002216
4 pulmonary fibrosis 32 HP:0002206
5 aplastic anemia 32 HP:0001915
6 bone marrow hypocellularity 32 HP:0005528

UMLS symptoms related to Aplastic Anemia:


angina pectoris, chest pain, edema

MGI Mouse Phenotypes related to Aplastic Anemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.33 CD59 CSF2 DKC1 EPO IFNG KITLG
2 cellular MP:0005384 10.29 CD59 CSF2 DKC1 EPO IFNG KITLG
3 homeostasis/metabolism MP:0005376 10.18 DKC1 EPO IFNG KITLG MPL NBN
4 immune system MP:0005387 10.13 CSF2 DKC1 EPO IFNG KITLG MPL
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 CD59 CSF2 DKC1 EPO IFNG NBN
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 CD59 CSF2 DKC1 IFNG KITLG NBN

Drugs & Therapeutics for Aplastic Anemia

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

(show top 50) (show all 193)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved 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 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 171228-49-2 147912
10
Radium Ra 223 dichloride Approved, Investigational Phase 4 444811-40-9
11
Mechlorethamine Approved 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
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
15
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
16 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
19 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Calcineurin Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
21 Cyclosporins Phase 4,Phase 3,Phase 2,Phase 1
22 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
24 Antibodies Phase 4,Phase 2,Phase 1
25 Immunoglobulins Phase 4,Phase 2,Phase 1
26 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
27 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Phase 1
28 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
29 Antilymphocyte Serum Phase 4,Phase 3,Phase 2,Phase 1
30 Antiparasitic Agents Phase 4,Phase 2
31 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
32 Hormones Phase 4,Phase 2,Phase 3,Phase 1
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
34 Chelating Agents Phase 4,Phase 2
35 Iron Chelating Agents Phase 4,Phase 2
36 Epoetin alfa Phase 4,Phase 2 113427-24-0
37 Hematinics Phase 4
38 Analgesics Phase 4
39 Analgesics, Non-Narcotic Phase 4
40 Anti-Inflammatory Agents, Non-Steroidal Phase 4
41 Antiprotozoal Agents Phase 4
42 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 2
43 Steroid Synthesis Inhibitors Phase 4,Phase 2
44 Micronutrients Phase 4,Phase 2
45 Trace Elements Phase 4,Phase 2
46 Vitamins Phase 4
47 Anticoagulants Phase 4,Phase 3
48 Calcium, Dietary Phase 4,Phase 3
49 Ferric Compounds Phase 4
50 Nitrogen Mustard Compounds Phase 4

Interventional clinical trials:

(show top 50) (show all 256)

id 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 A Study to Observe the Number of Patients Who Develop Pure Red Cell Aplasia (PRCA, a Rare Form of Anemia) While Receiving Epoetin Alfa or Other Recombinant Erythropoietins Completed NCT00211029 Phase 4
9 A Study of Patients With Pure Red Cell Aplasia Associated With Recombinant Human Erythropoietin Treatment Completed NCT00211042 Phase 4
10 The Efficacy of Immunosuppressive Therapy Combined With Cord Blood Transfusion in Treatment of Severe Aplastic Anemia Recruiting NCT02745717 Phase 4 Thymoglobuline® and oral CSA
11 Ferric Citrate in ESRD Pilot Project Recruiting NCT03055598 Phase 4 Ferric Citrate
12 Radium-223 Dichloride Long-term Follow-up Program Active, not recruiting NCT02312960 Phase 4
13 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
14 Eltrombopag in Children With Idiopathic Aplastic Anemia Not yet recruiting NCT03243656 Phase 4 Eltrombopag
15 King's Invasive Aspergillosis Study II Not yet recruiting NCT02875743 Phase 4 Posaconazole
16 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
17 A Study of Patients Treated With Erythropoietin Receptor Agonists for Anemia Who Developed Anti-erythropoietin Antibodies Withdrawn NCT00210977 Phase 4 No intervention
18 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
19 Comparing Therapies for the Treatment of Severe Aplastic Anemia Completed NCT00001626 Phase 3 Antithymocyte globulin & Cyclosporin A;Cyclophosphamide & Cyclosporin A
20 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
21 Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA Completed NCT00455312 Phase 2, Phase 3 Campath 1H;Cyclophosphamide;Fludarabine;antithymocyte globulin;Methylprednisolone
22 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
23 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) Completed NCT02158936 Phase 3 Eltrombopag;Azacitidine;Placebo
24 Eculizumab to Treat Paroxysmal Nocturnal Hemoglobinuria Completed NCT00098280 Phase 3 Eculizumab
25 High Dose Cyclophosphamide for Treatment of Scleroderma Completed NCT00501995 Phase 3 IV Cyclophosphamide
26 Efficacy and Safety of Eltrombopag + CSA in Patients With Moderate Aplastic Anemia (EMAA) Recruiting NCT02773225 Phase 2, Phase 3 Eltrombopag;Placebo (for Eltrombopag)
27 Randomised Study Comparing Different Dosages of Rabbit ATG in Patients With SAA Recruiting NCT01844635 Phase 3 Thymoglobulin
28 hATG+CsA vs hATG+CsA+Eltrombopag for SAA Recruiting NCT02099747 Phase 3 hATG;CsA;Eltrombopag
29 Transfusion Strategy in Hematological Intensive Care Unit Recruiting NCT02461264 Phase 3 Single red blood packed cells Transfusion;Two packed red blood cells Transfusion
30 Study of Romiplostim(AMG531) in Subjects With Aplastic Anemia Active, not recruiting NCT02773290 Phase 2, Phase 3
31 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
32 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
33 Trial of Two Central Venous Catheter (CVC) Flushing Schemes in Pediatric Hematology and Oncology Patients Terminated NCT01343680 Phase 3 Heparin;Normal saline
34 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
35 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)
36 Haploidentical Stem Cell Transplantation for Children With Acquired Severe Aplastic Anemia Unknown status NCT01759732 Phase 2 Fludarabine;Cyclophosphamide
37 Rabbit Antithymocyte Globulin (Thymoglobuline) With Ciclosporin for Patients With Acquired Aplastic Anaemia Unknown status NCT00471848 Phase 2 rabbit antithymocyte globulin
38 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
39 Mesenchymal Stem Cells Transplantation to Patients With Relapsed/Refractory Aplastic Anemia. Unknown status NCT01305694 Phase 1, Phase 2
40 Alemtuzumab and Low-Dose Cyclosporine in Treating Patients With Severe Aplastic Anemia or Acquired Marrow Failure Unknown status NCT00895739 Phase 2 cyclosporine
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 Safety and Efficacy Study of Umbilical Cord/Placenta-Derived Mesenchymal Stem Cells to Treat Severe Aplastic Anemia Unknown status NCT01182662 Phase 2
43 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
44 Sirolimus and Cyclosporine for Treatment-Resistant Aplastic Anemia Unknown status NCT00319878 Phase 1, Phase 2 Sirolimus;Cyclosporine
45 Umbilical Cord Blood and Placental Blood Transplantation in Treating Patients With Hematologic Cancer or Aplastic Anemia Unknown status NCT00008164 Phase 2
46 Safety Study of CD3/CD19 Depleted Haploidentical Stem Cells Unknown status NCT01919866 Phase 1, Phase 2
47 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
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 Safety and Efficacy of Levamisole Combined With Cyclosporine A in Patients With Classic Paroxysmal Nocturnal Hemoglobinuria Unknown status NCT01642979 Phase 2 Levamisole+cyclosporin A+Glucocorticoids;cyclosporin A+Glucocorticoids;Glucocorticoids

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:

id Genetic test Affiliating Genes
1 Aplastic Anemia 29
2 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 29

Anatomical Context for Aplastic Anemia

MalaCards organs/tissues related to Aplastic Anemia:

39
Bone, Bone Marrow, Heart, T Cells, Lung, Kidney, Neutrophil

Publications for Aplastic Anemia

Articles related to Aplastic Anemia:

(show top 50) (show all 1064)
id Title Authors Year
1
From chronic immune thrombocytopenia to severe aplastic anemia: recent insights into the evolution of eltrombopag. ( 28473904 )
2017
2
Population pharmacokinetics of fludarabine in patients with aplastic anemia and Fanconi anemia undergoing allogeneic hematopoietic stem cell transplantation. ( 28481355 )
2017
3
Lethal aplastic anemia caused by dual immune checkpoint blockade in metastatic melanoma. ( 28407116 )
2017
4
Meta-analysis of treatment with rabbit and horse antithymocyte globulin for aplastic anemia. ( 28078653 )
2017
5
Interleukin-2 and Interleukin-8 Gene Polymorphisms and Acquired Aplastic Anemia Risk in a Chinese Population. ( 28268223 )
2017
6
Hemophagocytic lymphohistiocytosis following influenza vaccination in a patient with aplastic anemia undergoing allogeneic bone marrow stem cell transplantation. ( 28054244 )
2017
7
Unrelated cord blood transplantation in aplastic anemia: is anti-thymocyte globulin indispensable for conditioning? ( 28783143 )
2017
8
CD106 is a novel mediator of bone marrow mesenchymal stem cells via NF-I_B in the bone marrow failure of acquired aplastic anemia. ( 28764810 )
2017
9
Induced Pluripotent Stem Cell Technology: A Window for Studying the Pathogenesis of Acquired Aplastic Anemia and Possible Applications. ( 28062362 )
2017
10
Modified immunosuppressive therapy with porcine antilymphocyte globulin plus delayed cyclosporine A in children with severe aplastic anemia. ( 28900860 )
2017
11
Severe Aplastic Anemia following Parvovirus B19-Associated Acute Hepatitis. ( 28512588 )
2017
12
Effect of antithymocyte globulin source on outcomes of bone marrow transplantation for severe aplastic anemia. ( 28341733 )
2017
13
Vascular and perivascular niches, but not the osteoblastic niche, are numerically restored following allogeneic hematopoietic stem cell transplantation in patients with aplastic anemia. ( 28303517 )
2017
14
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
15
Circulating microRNAs: promising biomarkers in aplastic anemia. ( 28040785 )
2017
16
Persistent elevation of plasma thrombopoietin levels after treatment in severe aplastic anemia. ( 28941711 )
2017
17
Chinese Herbal Formula, Modified Danggui Buxue Tang, Attenuates Apoptosis of Hematopoietic Stem Cells in Immune-Mediated Aplastic Anemia Mouse Model. ( 28951880 )
2017
18
Evidence for Increased Response to Induced Endoplasmic Reticulum Stress in Myeloid Cells in Acquired Aplastic Anemia. ( 28333839 )
2017
19
Comparison of T lymphocyte subsets in aplastic anemia and hypoplastic myelodysplastic syndromes. ( 28935248 )
2017
20
Aplastic anemia and cytotoxic T lymphocyte antigen-4 haploinsufficiency treated with bone marrow transplantation. ( 28499781 )
2017
21
Nivolumab-induced aplastic anemia: A case report and literature review. ( 28825374 )
2017
22
Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia. ( 28443261 )
2017
23
Myelodysplasia and acute myeloid leukemia fifteen years after high-dose cyclophosphamide in a child with severe aplastic anemia. ( 28270348 )
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
Hematopoietic cell transplantation for aplastic anemia. ( 28877042 )
2017
26
Novel deletion mutation of HLA-B*40:02 gene in acquired aplastic anemia. ( 28025876 )
2017
27
Prevalence of somatic mutations in patients with aplastic anemia using peripheral blood cfDNA as compared with BM. ( 28832022 )
2017
28
Aplastic anemia and risk of deep vein thrombosis and pulmonary embolism: A nationwide cohort study. ( 27923178 )
2017
29
Long-Term Outcomes of Cord Blood Transplantation from an HLA-Identical Sibling for Patients with Bone Marrow Failure Syndromes: A Report From Eurocord, Cord Blood Committee and Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation. ( 28797779 )
2017
30
Glycosylphosphatidylinositol-specific T cells, IFN-I^-producing T cells, and pathogenesis of idiopathic aplastic anemia. ( 27903525 )
2017
31
Aplastic anemia in a lung adenocarcinoma patient receiving pemetrexed. ( 28361276 )
2017
32
Trend and treatment patterns of aplastic anemia in Korea, pure red cell aplasia and myelodysplastic syndrome in Korea: a nation-wide analysis. ( 28664500 )
2017
33
Observational Monitoring of Patients with Aplastic Anemia and Low/Intermediate-1 Risk of Myelodysplastic Syndromes Complicated with Iron Overload. ( 28866669 )
2017
34
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
35
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
36
Updates on the pathophysiology and treatment of aplastic anemia: a comprehensive review. ( 28452257 )
2017
37
Transforming growth factor 15 increased in severe aplastic anemia patients. ( 28385068 )
2017
38
Origins of myelodysplastic syndromes after aplastic anemia. ( 28893734 )
2017
39
Allogeneic Bone Marrow-Derived Mesenchymal Stromal Cells Expanded In Vitro for Treatment of Aplastic Anemia: A Multicenter Phase II Trial. ( 28504860 )
2017
40
Interleukin-6 and Interleukin-8 Levels Correlate With the Severity of Aplastic Anemia in Children. ( 28060106 )
2017
41
Eltrombopag Added to Standard Immunosuppression for Aplastic Anemia. ( 28423296 )
2017
42
Protective Effects of Chronic Intermittent Hypobaric Hypoxia Pretreatment against Aplastic Anemia through Improving the Adhesiveness and Stress of Mesenchymal Stem Cells in Rats. ( 28798776 )
2017
43
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
44
Immune reconstitution in patients with acquired severe aplastic anemia after haploidentical stem cell transplantation. ( 28805792 )
2017
45
Predictors of early mortality after rabbit antithymocyte globulin as first-line treatment in severe aplastic anemia. ( 28815305 )
2017
46
Severe Aplastic Anemia during Osimertinib TherapyA in a Patient withA EGFR Tyrosine KinaseA Inhibitor-Resistant Non-Small Cell Lung Cancer. ( 28434513 )
2017
47
Outcome of Second Transplantation Using Umbilical Cord Blood for Graft Failure after Allogeneic Hematopoietic Stem Cell Transplantation for Aplastic Anemia. ( 28844947 )
2017
48
Outcomes of allogeneic stem cell transplantation in patients with paroxysmal nocturnal hemoglobinuria with or without aplastic anemia. ( 28675769 )
2017
49
Mixed T Cell Chimerism After Allogeneic Hematopoietic Stem Cell Transplantation for Severe Aplastic Anemia Using an Alemtuzumab-Containing Regimen Is Shaped by Persistence of Recipient CD8 T Cells. ( 27816648 )
2017
50
Features of Hepatitis in Hepatitis-associated Aplastic Anemia: Clinical and Histopathologic Study. ( 28030425 )
2017

Variations for Aplastic Anemia

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

71
id 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 29)
id Gene Variation Type Significance SNP ID Assembly Location
1 SBDS NM_016038.3(SBDS): c.258+2T> C single nucleotide variant Pathogenic,risk factor rs113993993 GRCh37 Chromosome 7, 66459197: 66459197
2 NBN NM_002485.4(NBN): c.511A> G (p.Ile171Val) single nucleotide variant risk factor rs61754966 GRCh37 Chromosome 8, 90990521: 90990521
3 TERC NR_001566.1(TERC): n.204C> G single nucleotide variant Pathogenic rs199422277 GRCh37 Chromosome 3, 169482645: 169482645
4 TERC NR_001566.1(TERC): n.72C> G single nucleotide variant Pathogenic rs199422265 GRCh37 Chromosome 3, 169482777: 169482777
5 TERC NR_001566.1(TERC): n.110_113delGACT deletion Pathogenic rs199422270 GRCh37 Chromosome 3, 169482736: 169482739
6 TERC NR_001566.1(TERC): n.116C> T single nucleotide variant Pathogenic rs199422272 GRCh37 Chromosome 3, 169482733: 169482733
7 TERC NR_001566.1(TERC): n.98G> A single nucleotide variant Pathogenic rs199422268 GRCh37 Chromosome 3, 169482751: 169482751
8 TERC TERC, 325G-T single nucleotide variant Pathogenic
9 TERT NM_198253.2(TERT): c.2080G> A (p.Val694Met) single nucleotide variant Pathogenic rs121918662 GRCh37 Chromosome 5, 1279456: 1279456
10 TERT NM_198253.2(TERT): c.2315A> G (p.Tyr772Cys) single nucleotide variant Pathogenic rs121918663 GRCh37 Chromosome 5, 1272367: 1272367
11 TERT NM_198253.2(TERT): c.3268G> A (p.Val1090Met) single nucleotide variant Pathogenic rs121918664 GRCh37 Chromosome 5, 1254510: 1254510
12 PRF1 NM_001083116.1(PRF1): c.1163G> T (p.Ser388Ile) single nucleotide variant Pathogenic rs193302875 GRCh37 Chromosome 10, 72358314: 72358314
13 TERC TERC, 143G-A single nucleotide variant Pathogenic
14 TERC TERC, 212C-G single nucleotide variant Pathogenic
15 TINF2 NM_001099274.1(TINF2): c.862T> C (p.Phe288Leu) single nucleotide variant Pathogenic rs199422317 GRCh37 Chromosome 14, 24709824: 24709824
16 TERT NM_198253.2(TERT): c.2537A> G (p.Tyr846Cys) single nucleotide variant Pathogenic rs199422302 GRCh37 Chromosome 5, 1268680: 1268680
17 TERT NM_198253.2(TERT): c.2147C> T (p.Ala716Val) single nucleotide variant Pathogenic rs199422298 GRCh37 Chromosome 5, 1278895: 1278895
18 TERT NM_198253.2(TERT): c.2628C> G (p.His876Gln) single nucleotide variant Pathogenic rs199422303 GRCh37 Chromosome 5, 1266605: 1266605
19 TERT NM_198253.2(TERT): c.2935C> T (p.Arg979Trp) single nucleotide variant Pathogenic rs199422305 GRCh37 Chromosome 5, 1260624: 1260624
20 TERT NM_198253.2(TERT): c.3043T> C (p.Cys1015Arg) single nucleotide variant Pathogenic rs199422307 GRCh37 Chromosome 5, 1255516: 1255516
21 TERT NM_198253.2(TERT): c.3184G> A (p.Ala1062Thr) single nucleotide variant risk factor rs35719940 GRCh37 Chromosome 5, 1254594: 1254594
22 TERC NR_001566.1(TERC): n.28_34delGTGGTGG deletion Pathogenic rs199422259 GRCh38 Chromosome 3, 169765027: 169765033
23 TERC NR_001566.1(TERC): n.117A> C single nucleotide variant Pathogenic rs199422273 GRCh37 Chromosome 3, 169482732: 169482732
24 TERC NR_001566.1(TERC): n.178G> A single nucleotide variant Pathogenic rs199422275 GRCh37 Chromosome 3, 169482671: 169482671
25 TERC NR_001566.1(TERC): n.180C> T single nucleotide variant Pathogenic rs199422276 GRCh37 Chromosome 3, 169482669: 169482669
26 TERC NR_001566.1(TERC): n.305G> A single nucleotide variant Pathogenic rs199422279 GRCh37 Chromosome 3, 169482544: 169482544
27 TERC NR_001566.1(TERC): n.322G> A single nucleotide variant Pathogenic rs199422280 GRCh37 Chromosome 3, 169482527: 169482527
28 TERC NR_001566.1(TERC): n.323C> T single nucleotide variant Pathogenic rs199422281 GRCh37 Chromosome 3, 169482526: 169482526
29 TERC NR_001566.1(TERC): n.391_392delCC deletion Pathogenic rs199422283 GRCh37 Chromosome 3, 169482457: 169482458

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 GeneCards Suite gene sharing:

(show all 13)
id Super pathways Score Top Affiliating Genes
1 12.39 IFNG IL3 KITLG MPL SH2D1A
2
Show member pathways
12.33 CSF2 IFNG IL3 PRF1 SH2D1A
3
Show member pathways
11.97 CSF2 EPO IFNG IL3 MPL THPO
4 11.91 IL3 KITLG TERT THPO
5
Show member pathways
11.76 IL3 NBN TERT TINF2
6 11.69 DKC1 NHP2 NOP10 SBDS
7
Show member pathways
11.58 CSF2 IFNG IL3
8 11.49 CD55 CD59 CSF2 EPO IL3 KITLG
9 11.37 EPO IL3 KITLG
10 11.37 DKC1 IFNG NBN TERT TINF2
11 11.3 CSF2 EPO IL3 KITLG
12 11.29 CD59 CSF2 EPO IFNG IL3 KITLG
13 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)
id 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 telomerase RNP complex GO:0090661 9.33 DKC1 NHP2 NOP10
9 box H/ACA scaRNP complex GO:0072589 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)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.95 CSF2 EPO IFNG IL3 KITLG
2 rRNA processing GO:0006364 9.84 DKC1 NHP2 NOP10 SBDS
3 cell proliferation GO:0008283 9.8 DKC1 EPO KITLG MPL NBN SBDS
4 ribosome biogenesis GO:0042254 9.73 DKC1 NHP2 NOP10 SBDS
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.67 CSF2 EPO IFNG IL3
6 positive regulation of DNA replication GO:0045740 9.62 CSF2 EPO IL3 KITLG
7 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.58 DKC1 NHP2 NOP10
8 positive regulation of Ras protein signal transduction GO:0046579 9.57 EPO KITLG
9 embryonic hemopoiesis GO:0035162 9.56 IL3 KITLG
10 pseudouridine synthesis GO:0001522 9.52 DKC1 NOP10
11 positive regulation of interleukin-23 production GO:0032747 9.51 CSF2 IFNG
12 positive regulation of hematopoietic stem cell proliferation GO:1902035 9.49 KITLG THPO
13 positive regulation of killing of cells of other organism GO:0051712 9.48 IFNG PRF1
14 thrombopoietin-mediated signaling pathway GO:0038163 9.46 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:

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.56 CSF2 IL3 KITLG THPO
2 cytokine activity GO:0005125 9.55 CSF2 IFNG IL3 KITLG THPO
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 CSF2 IL3 KITLG
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

Sources for Aplastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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