MCID: APL001
MIFTS: 73

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 57 38 12 76 53 75 37 29 13 13 6 43 15 63 73
Aplastic Anemia, Susceptibility to 57 6
Idiopathic Aplastic Anemia 53 59
Secondary Aplastic Anemia 53 73
Anemia Aplastic 53 55
Idiopathic Bone Marrow Failure 59
Aplastic Anemia, Idiopathic 73
Aplastic Anemia Idiopathic 53
Anemia, Aplastic 44
Aa 75

Characteristics:

Orphanet epidemiological data:

59
idiopathic aplastic anemia
Age of onset: Adult; Age of death: adult;

Classifications:



External Ids:

OMIM 57 609135
Disease Ontology 12 DOID:12449
ICD9CM 35 284.9
MeSH 44 D000741
NCIt 50 C2870
Orphanet 59 ORPHA88
UMLS via Orphanet 74 C0348890
ICD10 via Orphanet 34 D61.0
MESH via Orphanet 45 C538494
KEGG 37 H01132

Summaries for Aplastic Anemia

NIH Rare Diseases : 53 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.

MalaCards based summary : Aplastic Anemia, also known as aplastic anemia, susceptibility to, is related to paroxysmal nocturnal hemoglobinuria and amegakaryocytic thrombocytopenia, congenital, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Aplastic Anemia is SBDS (SBDS, Ribosome Maturation Factor), 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 aplastic anemia and bone marrow hypocellularity

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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 : 43 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

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

PubMed Health : 63 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 : 76 Aplastic anaemia 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 275)
# Related Disease Score Top Affiliating Genes
1 paroxysmal nocturnal hemoglobinuria 33.8 CD55 CD59 PIGA
2 amegakaryocytic thrombocytopenia, congenital 33.5 IL3 THPO
3 revesz syndrome 33.5 DKC1 TINF2
4 dyskeratosis congenita 33.4 CSF2 DKC1 NHP2 NOP10 TERC TERT
5 dyskeratosis congenita, autosomal recessive 1 33.3 NHP2 NOP10 TERT
6 deficiency anemia 32.5 EPO IL3 THPO
7 hemoglobinuria 32.4 CD55 CD59 PIGA
8 myelodysplastic syndrome 31.9 CD55 CD59 CSF2 EPO IL3 KITLG
9 fanconi anemia, complementation group a 31.8 DKC1 IL3 KITLG NBN TERC
10 leukemia, acute myeloid 31.8 CSF2 IL3 KITLG TERT THPO
11 neutropenia 31.6 CSF2 EPO IL3 KITLG THPO
12 pancytopenia 31.6 CSF2 DKC1 EPO IL3 TERT THPO
13 transient erythroblastopenia of childhood 31.3 EPO KITLG
14 hemolytic anemia 31.0 CD55 CD59 EPO PIGA
15 shwachman-diamond syndrome 1 30.2 DKC1 RPL5 SBDS
16 diamond-blackfan anemia 30.0 CSF2 EPO IL3 KITLG RPL5 THPO
17 amyloidosis aa 12.4
18 helsmoortel-van der aa syndrome 12.3
19 retinopathy aplastic anemia neurological abnormalities 12.1
20 bone marrow failure syndrome 1 11.8
21 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 11.8
22 congenital hypoplastic anemia 11.8
23 alopecia areata 11.8
24 adnp syndrome 11.7
25 dyskeratosis congenita, autosomal dominant 6 11.6
26 williams-beuren region duplication syndrome 11.5
27 dyskeratosis congenita, autosomal dominant 1 11.3 TERC TERT TINF2
28 inherited bone marrow failure syndromes 11.3 SBDS TERC TERT
29 eosinophilic fasciitis 11.3
30 immunodeficiency 21 11.2
31 retinitis pigmentosa and erythrocytic microcytosis 11.2 EPO IL3 PIGA
32 dyskeratosis congenita autosomal recessive 11.2 NHP2 NOP10 TERT
33 cyclic neutropenia 11.2 CSF2 IFNG IL3
34 hypersplenism 11.2 EPO IFNG THPO
35 seborrheic infantile dermatitis 11.2 CSF2 IL3
36 mast cell neoplasm 11.2 IL3 KITLG PRF1
37 congenital intrauterine infection-like syndrome 11.2 DKC1 TERC
38 erythrocytosis, familial, 1 11.2 EPO IL3 THPO
39 anemia of prematurity 11.2 CSF2 EPO IL3 KITLG
40 dyskeratosis congenita autosomal dominant 11.2 DKC1 TERC TERT TINF2
41 paroxysmal nocturnal hemoglobinuria 1 11.2 PIGA TERC
42 leukocyte disease 11.1 CSF2 IL3 KITLG
43 thrombocytosis 11.1 CSF2 EPO IL3 THPO
44 multiple congenital anomalies-hypotonia-seizures syndrome 2 11.1 CD55 CD59 PIGA
45 polycythemia 11.1 EPO IL3 KITLG THPO
46 megakaryocytic leukemia 11.1 CSF2 IL3 KITLG THPO
47 immune system disease 11.1 CSF2 EPO IFNG IL3 THPO
48 renal nutcracker syndrome 11.1
49 b-cell growth factor 11.1 IFNG IL3
50 polycythemia vera 11.1 EPO IL3 KITLG THPO

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:

32
# Description HPO Frequency HPO Source Accession
1 aplastic anemia 32 HP:0001915
2 bone marrow hypocellularity 32 HP:0005528

UMLS symptoms related to Aplastic Anemia:


angina pectoris, chest pain, edema

MGI Mouse Phenotypes related to Aplastic Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.24 CD55 CD59 CSF2 DKC1 EPO IFNG
2 cellular MP:0005384 10.23 KITLG NBN PIGA PRF1 SBDS CD59
3 immune system MP:0005387 10.13 NHP2 PRF1 SBDS TERT THPO TINF2
4 endocrine/exocrine gland MP:0005379 10.06 TINF2 CD59 CSF2 IFNG KITLG NBN
5 embryo MP:0005380 10.03 CSF2 DKC1 EPO IFNG KITLG NBN
6 mortality/aging MP:0010768 9.97 CD59 CSF2 DKC1 EPO IFNG KITLG
7 integument MP:0010771 9.86 CSF2 DKC1 EPO IFNG KITLG PIGA
8 neoplasm MP:0002006 9.56 CSF2 DKC1 IFNG KITLG NBN PIGA
9 reproductive system MP:0005389 9.32 CD59 CSF2 DKC1 IFNG KITLG NBN

Drugs & Therapeutics for Aplastic Anemia

PubMedHealth treatment related to Aplastic Anemia: 63

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 219)
# 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,Not Applicable,Early Phase 1 50-18-0, 6055-19-2 2907
3
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
5
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 1 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
Radium Ra 223 dichloride Approved, Investigational Phase 4,Phase 1,Phase 2 444811-40-9
9
Posaconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 171228-49-2 147912
10
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
11
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
12
Ticlopidine Approved Phase 4 55142-85-3 5472
13
Mechlorethamine Approved, Investigational Phase 4,Phase 2,Not Applicable 51-75-2 4033
14 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
15
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 1406-16-2
16
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
17
Ergocalciferol Approved, Nutraceutical Phase 4,Not Applicable 50-14-6 5280793
18
Vitamin D3 Approved, Nutraceutical Phase 4,Not Applicable 67-97-0 6221 5280795
19 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
22 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
23 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
24 Calcineurin Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Cyclosporins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
28 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
29 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
30 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
31 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Antibodies Phase 4,Phase 2,Phase 1,Not Applicable
33 Immunoglobulins Phase 4,Phase 2,Phase 1,Not Applicable
34 Antilymphocyte Serum Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Antiparasitic Agents Phase 4,Phase 2,Not Applicable
36 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
37 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
39 Chelating Agents Phase 4,Phase 2
40 Iron Chelating Agents Phase 4,Phase 2
41 Hematinics Phase 4
42 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 2,Not Applicable
43 Antiprotozoal Agents Phase 4,Phase 2,Not Applicable
44 Steroid Synthesis Inhibitors Phase 4,Phase 2,Not Applicable
45 Micronutrients Phase 4,Not Applicable
46 Trace Elements Phase 4,Not Applicable
47 Vitamins Phase 4,Not Applicable
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 271)
# 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 The Efficacy of Immunosuppressive Therapy Combined With Cord Blood Transfusion in Treatment of Severe Aplastic Anemia Recruiting NCT02745717 Phase 4 Thymoglobuline® and oral CSA
7 Ferric Citrate in ESRD Pilot Project Recruiting NCT03055598 Phase 4 Ferric Citrate
8 Diabetic Artery Obstruction: is it Possible to Reduce Ischemic Events With Cilostazol? Recruiting NCT02983214 Phase 4 Clopidogrel;Cilostazol
9 Radium-223 Dichloride Long-term Follow-up Program Recruiting NCT02312960 Phase 4
10 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
11 Eltrombopag in Children With Idiopathic Aplastic Anemia Not yet recruiting NCT03243656 Phase 4 Eltrombopag
12 King's Invasive Aspergillosis Study II Not yet recruiting NCT02875743 Phase 4 Posaconazole
13 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
14 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
15 Randomised Study Comparing Different Dosages of Rabbit ATG in Patients With SAA Unknown status NCT01844635 Phase 3 Thymoglobulin
16 Comparing Therapies for the Treatment of Severe Aplastic Anemia Completed NCT00001626 Phase 3 Antithymocyte globulin & Cyclosporin A;Cyclophosphamide & Cyclosporin A
17 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
18 Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA Completed NCT00455312 Phase 2, Phase 3 Campath 1H;Cyclophosphamide;Fludarabine;antithymocyte globulin;Methylprednisolone
19 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
20 Eculizumab to Treat Paroxysmal Nocturnal Hemoglobinuria Completed NCT00098280 Phase 3 Eculizumab
21 High Dose Cyclophosphamide for Treatment of Scleroderma Completed NCT00501995 Phase 3 IV Cyclophosphamide
22 Efficacy and Safety of Eltrombopag + CSA in Patients With Moderate Aplastic Anemia (EMAA) Recruiting NCT02773225 Phase 2, Phase 3 Eltrombopag;Placebo (for Eltrombopag)
23 Eltrombopag+hATG+CsA vs. hATG+CsA in Children With Severe AA Recruiting NCT03413306 Phase 3 Eltrombopag;IST (ATG + CsA)
24 hATG+CsA vs hATG+CsA+Eltrombopag for SAA Recruiting NCT02099747 Phase 3 hATG;CsA;Eltrombopag
25 Transfusion Strategy in Hematological Intensive Care Unit Recruiting NCT02461264 Phase 3 Single red blood packed cells Transfusion;Two packed red blood cells Transfusion
26 Study of Romiplostim(AMG531) in Subjects With Aplastic Anemia Active, not recruiting NCT02773290 Phase 2, Phase 3
27 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
28 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
29 Trial of Two Central Venous Catheter (CVC) Flushing Schemes in Pediatric Hematology and Oncology Patients Terminated NCT01343680 Phase 3 Heparin;Normal saline
30 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
31 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)
32 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
33 A Single-Arm Phase 2 Study With Optimized Standard Protocol for Severe Aplastic Anemia Unknown status NCT02203396 Phase 2 rabbit ATG, Cyclosporine, Levamisole
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 29 IFNG NBN PRF1 SBDS TERT

Anatomical Context for Aplastic Anemia

MalaCards organs/tissues related to Aplastic Anemia:

41
Bone, Bone Marrow, Heart, T Cells, Lung, Myeloid, Neutrophil

Publications for Aplastic Anemia

Articles related to Aplastic Anemia:

(show top 50) (show all 1290)
# Title Authors Year
1
Successful reduced-intensity conditioning hematopoietic stem cell transplantation for paroxysmal nocturnal hemoglobinuria with aplastic anemia in two children. ( 29722478 )
2018
2
Acquired Aplastic Anemia: What Have We Learned and What Is in the Horizon? ( 29803285 )
2018
3
Celiac disease associated with aplastic anemia in a 6-year-old girl: a case report and review of the literature. ( 29361973 )
2018
4
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML. ( 29416752 )
2018
5
Unrelated cord blood transplantation in patients with acquired refractory aplastic anemia: a nationwide phase II study. ( 29760162 )
2018
6
Comparison of the effects of deferasirox, deferoxamine, and combination of deferasirox and deferoxamine on an aplastic anemia mouse model complicated with iron overload. ( 29760547 )
2018
7
Updated Guidelines for the Treatment of Acquired Aplastic Anemia in Children. ( 29961134 )
2018
8
Horse versus Rabbit Antithymocyte Globulin in Acquired Aplastic Anemia. ( 29897839 )
2018
9
Effects and Predictive Factors of Immunosuppressive Therapy Combined with Umbilical Cord Blood Infusion in Patients with Severe Aplastic Anemia. ( 29869462 )
2018
10
Increased apoptosis and peripheral blood mononuclear cell suppression of bone marrow mesenchymal stem cells in severe aplastic anemia. ( 29870142 )
2018
11
Why is it necessary to examine retina when the patient suffers from aplastic anemia? ( 29749240 )
2018
12
Hepatitis A, cardiomyopathy, aplastic anemia, and acute liver failure: A devastating scenario. ( 29359844 )
2018
13
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
14
Anorexia nervosa-associated pancytopenia mimicking idiopathic aplastic anemia: a case report. ( 29801443 )
2018
15
Circulating S100A8 and S100A9 protein levels in plasma of patients with acquired aplastic anemia and myelodysplastic syndromes. ( 29958797 )
2018
16
Upfront eltrombopag monotherapy induces stable hematologic remission in pediatric patients with nonsevere idiopathic aplastic anemia. ( 29932285 )
2018
17
Skin Induration in a Patient with Aplastic Anemia. ( 29381836 )
2018
18
Idiopathic severe aplastic anemia with a delayed response to immunosuppressive therapy: a case report. ( 29881557 )
2018
19
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
20
Autologous Bone Marrow Transplantation for Polymyositis Combined with Myasthenia Gravis and Aplastic Anemia: A Case Report. ( 29805377 )
2018
21
Efficacy and safety of combined immunosuppressive therapy plus umbilical cord blood infusion in severe aplastic anemia patients: A cohort study. ( 29434791 )
2018
22
Aplastic anemia secondary to propylthiouracil: A rare and life-threatening adverse effect. ( 29357782 )
2018
23
Concurrent treatment of aplastic anemia/Paroxysmal Nocturnal Hemoglobinuria syndrome with immunosuppressive therapy and eculizumab: a UK experience. ( 29545341 )
2018
24
Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres. ( 29980875 )
2018
25
Optimal donor for severe aplastic anemia patient requiring allogeneic hematopoietic stem cell transplantation: A large-sample study from China. ( 29410500 )
2018
26
Sex-specific analysis post-liver transplantation in hemochromatosis with aplastic anemia and hepatocellular carcinoma. ( 29404507 )
2018
27
Epstein Barr Virus Infection Affects Function of Cytotoxic T Lymphocytes in Patients with Severe Aplastic Anemia. ( 29862282 )
2018
28
Acute hepatitis as a prequel to very severe aplastic anemia. ( 29316578 )
2018
29
Patient features and survival of pediatric aplastic anemia in the USA: a large institution experience. ( 29901745 )
2018
30
Allogeneic Matched Related Donor Bone Marrow Transplantation for Pediatric Patients With Severe Aplastic Anemia Using "Low-dose" Cyclophosphamide, ATG Plus Fludarabine. ( 29432302 )
2018
31
Danazol increases T regulatory cells in patients with aplastic anemia. ( 29415633 )
2018
32
A composite mouse model of aplastic anemia complicated with iron overload. ( 29434729 )
2018
33
Recurrent ovarian hemorrhage in a patient with aplastic anemia: A case report. ( 29979439 )
2018
34
Hematopoietic stem cell loss and hematopoietic failure in severe aplastic anemia is driven by macrophages and aberrant podoplanin expression. ( 29773597 )
2018
35
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors. ( 29374141 )
2018
36
Rabbit antithymocyte globulin dose does not affect response or survival as first-line therapy for acquired aplastic anemia: a multicenter retrospective study. ( 29978284 )
2018
37
Unmanipulated Haploidentical Hematopoietic Stem Cell Transplantation Achieved Outcomes Comparable With Matched Unrelated Donor Transplantation in Young Acquired Severe Aplastic Anemia. ( 29772350 )
2018
38
Influence of genetic polymorphisms of IL23R, STAT3, IL12B, and STAT4 on the risk of aplastic anemia and the effect of immunosuppressive therapy. ( 29330562 )
2018
39
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
40
Combined intensive immunosuppression and eculizumab for aplastic anemia in the context of hemolytic paroxysmal nocturnal hemoglobinuria: a retrospective analysis. ( 29131151 )
2018
41
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
42
Prevalence of somatic mutations in patients with aplastic anemia using peripheral blood cfDNA as compared with BM. ( 28832022 )
2017
43
Outcome of Second Transplantation Using Umbilical Cord Blood for Graft Failure after Allogeneic Hematopoietic Stem Cell Transplantation for Aplastic Anemia. ( 28844947 )
2017
44
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
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
Observational Monitoring of Patients with Aplastic Anemia and Low/Intermediate-1 Risk of Myelodysplastic Syndromes Complicated with Iron Overload. ( 28866669 )
2017
47
Origins of myelodysplastic syndromes after aplastic anemia. ( 28893734 )
2017
48
Unrelated cord blood transplantation in aplastic anemia: is anti-thymocyte globulin indispensable for conditioning? ( 28783143 )
2017
49
Clinical outcomes in adult patients with aplastic anemia: A single institution experience. ( 28850699 )
2017
50
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

Variations for Aplastic Anemia

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

75
# 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 top 50) (show all 130)
# Gene Variation Type Significance SNP ID Assembly Location
1 SBDS NM_016038.3(SBDS): c.258+2T> C single nucleotide variant Pathogenic rs113993993 GRCh37 Chromosome 7, 66459197: 66459197
2 SBDS NM_016038.3(SBDS): c.258+2T> C single nucleotide variant Pathogenic rs113993993 GRCh38 Chromosome 7, 66994210: 66994210
3 NBN NM_002485.4(NBN): c.511A> G (p.Ile171Val) single nucleotide variant risk factor rs61754966 GRCh37 Chromosome 8, 90990521: 90990521
4 NBN NM_002485.4(NBN): c.511A> G (p.Ile171Val) single nucleotide variant risk factor rs61754966 GRCh38 Chromosome 8, 89978293: 89978293
5 TERC NR_001566.1(TERC): n.72C> G single nucleotide variant Pathogenic rs199422265 GRCh37 Chromosome 3, 169482777: 169482777
6 TERC NR_001566.1(TERC): n.72C> G single nucleotide variant Pathogenic rs199422265 GRCh38 Chromosome 3, 169764989: 169764989
7 TERC NR_001566.1(TERC): n.110_113delGACT deletion Pathogenic rs199422270 GRCh37 Chromosome 3, 169482736: 169482739
8 TERC NR_001566.1(TERC): n.110_113delGACT deletion Pathogenic rs199422270 GRCh38 Chromosome 3, 169764948: 169764951
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.2080G> A (p.Val694Met) single nucleotide variant Pathogenic rs121918662 GRCh38 Chromosome 5, 1279341: 1279341
11 TERT NM_198253.2(TERT): c.2315A> G (p.Tyr772Cys) single nucleotide variant Pathogenic rs121918663 GRCh37 Chromosome 5, 1272367: 1272367
12 TERT NM_198253.2(TERT): c.2315A> G (p.Tyr772Cys) single nucleotide variant Pathogenic rs121918663 GRCh38 Chromosome 5, 1272252: 1272252
13 PRF1 NM_001083116.2(PRF1): c.1163G> T (p.Ser388Ile) single nucleotide variant Pathogenic rs193302875 GRCh37 Chromosome 10, 72358314: 72358314
14 PRF1 NM_001083116.2(PRF1): c.1163G> T (p.Ser388Ile) single nucleotide variant Pathogenic rs193302875 GRCh38 Chromosome 10, 70598558: 70598558
15 IFNG NM_000619.2(IFNG): c.115-484_115-457CA[12] NT expansion risk factor rs587776821 GRCh37 Chromosome 12, 68552496: 68552497
16 IFNG NM_000619.2(IFNG): c.115-484_115-457CA[12] NT expansion risk factor rs587776821 GRCh38 Chromosome 12, 68158716: 68158717
17 TINF2 NM_001099274.1(TINF2): c.862T> C (p.Phe288Leu) single nucleotide variant Pathogenic rs199422317 GRCh37 Chromosome 14, 24709824: 24709824
18 TINF2 NM_001099274.1(TINF2): c.862T> C (p.Phe288Leu) single nucleotide variant Pathogenic rs199422317 GRCh38 Chromosome 14, 24240618: 24240618
19 TERT NM_198253.2(TERT): c.2147C> T (p.Ala716Val) single nucleotide variant Pathogenic rs199422298 GRCh37 Chromosome 5, 1278895: 1278895
20 TERT NM_198253.2(TERT): c.2147C> T (p.Ala716Val) single nucleotide variant Pathogenic rs199422298 GRCh38 Chromosome 5, 1278780: 1278780
21 TERT NM_198253.2(TERT): c.2537A> G (p.Tyr846Cys) single nucleotide variant Pathogenic rs199422302 GRCh37 Chromosome 5, 1268680: 1268680
22 TERT NM_198253.2(TERT): c.2537A> G (p.Tyr846Cys) single nucleotide variant Pathogenic rs199422302 GRCh38 Chromosome 5, 1268565: 1268565
23 TERT NM_198253.2(TERT): c.2628C> G (p.His876Gln) single nucleotide variant Pathogenic rs199422303 GRCh37 Chromosome 5, 1266605: 1266605
24 TERT NM_198253.2(TERT): c.2628C> G (p.His876Gln) single nucleotide variant Pathogenic rs199422303 GRCh38 Chromosome 5, 1266490: 1266490
25 TERT NM_198253.2(TERT): c.3043T> C (p.Cys1015Arg) single nucleotide variant Pathogenic rs199422307 GRCh37 Chromosome 5, 1255516: 1255516
26 TERT NM_198253.2(TERT): c.3043T> C (p.Cys1015Arg) single nucleotide variant Pathogenic rs199422307 GRCh38 Chromosome 5, 1255401: 1255401
27 TERT NM_198253.2(TERT): c.3184G> A (p.Ala1062Thr) single nucleotide variant risk factor rs35719940 GRCh37 Chromosome 5, 1254594: 1254594
28 TERT NM_198253.2(TERT): c.3184G> A (p.Ala1062Thr) single nucleotide variant risk factor rs35719940 GRCh38 Chromosome 5, 1254479: 1254479
29 TERC NR_001566.1(TERC): n.117A> C single nucleotide variant Pathogenic rs199422273 GRCh37 Chromosome 3, 169482732: 169482732
30 TERC NR_001566.1(TERC): n.117A> C single nucleotide variant Pathogenic rs199422273 GRCh38 Chromosome 3, 169764944: 169764944
31 TERC NR_001566.1(TERC): n.178G> A single nucleotide variant Pathogenic rs199422275 GRCh37 Chromosome 3, 169482671: 169482671
32 TERC NR_001566.1(TERC): n.178G> A single nucleotide variant Pathogenic rs199422275 GRCh38 Chromosome 3, 169764883: 169764883
33 TERC NR_001566.1(TERC): n.180C> T single nucleotide variant Pathogenic rs199422276 GRCh37 Chromosome 3, 169482669: 169482669
34 TERC NR_001566.1(TERC): n.180C> T single nucleotide variant Pathogenic rs199422276 GRCh38 Chromosome 3, 169764881: 169764881
35 LOC110806306; TERC NR_001566.1(TERC): n.28_34delGTGGTGG deletion Pathogenic rs199422259 GRCh37 Chromosome 3, 169482815: 169482821
36 LOC110806306; TERC NR_001566.1(TERC): n.28_34delGTGGTGG deletion Pathogenic rs199422259 GRCh38 Chromosome 3, 169765027: 169765033
37 TERC NR_001566.1(TERC): n.305G> A single nucleotide variant Pathogenic rs199422279 GRCh37 Chromosome 3, 169482544: 169482544
38 TERC NR_001566.1(TERC): n.305G> A single nucleotide variant Pathogenic rs199422279 GRCh38 Chromosome 3, 169764756: 169764756
39 TERC NR_001566.1(TERC): n.322G> A single nucleotide variant Pathogenic rs199422280 GRCh37 Chromosome 3, 169482527: 169482527
40 TERC NR_001566.1(TERC): n.322G> A single nucleotide variant Pathogenic rs199422280 GRCh38 Chromosome 3, 169764739: 169764739
41 TERC NR_001566.1(TERC): n.323C> T single nucleotide variant Pathogenic rs199422281 GRCh37 Chromosome 3, 169482526: 169482526
42 TERC NR_001566.1(TERC): n.323C> T single nucleotide variant Pathogenic rs199422281 GRCh38 Chromosome 3, 169764738: 169764738
43 TERC NR_001566.1(TERC): n.391_392delCC deletion Pathogenic rs199422283 GRCh37 Chromosome 3, 169482457: 169482458
44 TERC NR_001566.1(TERC): n.391_392delCC deletion Pathogenic rs199422283 GRCh38 Chromosome 3, 169764669: 169764670
45 TERT NM_198253.2(TERT): c.3105C> T (p.Val1035=) single nucleotide variant Benign/Likely benign rs181612536 GRCh37 Chromosome 5, 1255454: 1255454
46 TERT NM_198253.2(TERT): c.3105C> T (p.Val1035=) single nucleotide variant Benign/Likely benign rs181612536 GRCh38 Chromosome 5, 1255339: 1255339
47 TERT NM_198253.2(TERT): c.1812A> G (p.Ala604=) single nucleotide variant Benign/Likely benign rs33959226 GRCh37 Chromosome 5, 1280411: 1280411
48 TERT NM_198253.2(TERT): c.1812A> G (p.Ala604=) single nucleotide variant Benign/Likely benign rs33959226 GRCh38 Chromosome 5, 1280296: 1280296
49 TERT NM_198253.2(TERT): c.3324G> A (p.Pro1108=) single nucleotide variant Benign rs35033501 GRCh37 Chromosome 5, 1253918: 1253918
50 TERT NM_198253.2(TERT): c.3324G> A (p.Pro1108=) single nucleotide variant Benign rs35033501 GRCh38 Chromosome 5, 1253803: 1253803

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:

37
# 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 12.6 EPO IFNG IL3 KITLG TERC TERT
2
Show member pathways
12.45 CSF2 EPO IFNG IL3 THPO
3
Show member pathways
12.37 DKC1 NHP2 TERT TINF2
4
Show member pathways
12.3 CSF2 IFNG IL3 PRF1
5 11.9 IL3 KITLG TERT THPO
6
Show member pathways
11.76 IL3 NBN TERT TINF2
7 11.64 DKC1 NHP2 NOP10 SBDS
8
Show member pathways
11.57 CSF2 IFNG IL3
9 11.56 CD59 CSF2 EPO IFNG IL3 KITLG
10 11.37 DKC1 IFNG NBN TERT TINF2
11 11.35 EPO IL3 KITLG
12 11.24 CSF2 EPO IL3 KITLG
13 11.15 CD55 CD59 CSF2 EPO IL3 KITLG
14 11.02 CSF2 IFNG IL3

GO Terms for Aplastic Anemia

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.71 NBN NHP2 TERT TINF2
2 chromosome, telomeric region GO:0000781 9.67 NBN TERC TERT TINF2
3 Cajal body GO:0015030 9.62 DKC1 NHP2 NOP10 TERC
4 nuclear telomere cap complex GO:0000783 9.49 TERT TINF2
5 small nucleolar ribonucleoprotein complex GO:0005732 9.48 NHP2 NOP10
6 telomerase catalytic core complex GO:0000333 9.43 TERC TERT
7 box H/ACA snoRNP complex GO:0031429 9.43 DKC1 NHP2 NOP10
8 telomerase holoenzyme complex GO:0005697 9.35 DKC1 NHP2 NOP10 TERC TERT
9 box H/ACA scaRNP complex GO:0072589 9.33 DKC1 NHP2 NOP10
10 box H/ACA telomerase RNP complex GO:0090661 8.92 DKC1 NHP2 NOP10 TERC
11 extracellular region GO:0005576 10.16 CD55 CD59 CSF2 EPO IFNG IL3
12 nucleolus GO:0005730 10 DKC1 NBN NHP2 NOP10 RPL5 SBDS

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.95 CSF2 EPO IFNG IL3 KITLG
2 regulation of signaling receptor activity GO:0010469 9.93 CSF2 EPO IFNG IL3 KITLG THPO
3 cell proliferation GO:0008283 9.88 DKC1 EPO KITLG NBN SBDS THPO
4 rRNA processing GO:0006364 9.83 DKC1 NHP2 NOP10 RPL5 SBDS
5 ribosome biogenesis GO:0042254 9.78 DKC1 NHP2 NOP10 SBDS
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.62 CSF2 EPO IFNG IL3
7 positive regulation of Ras protein signal transduction GO:0046579 9.58 EPO KITLG
8 negative regulation of cellular senescence GO:2000773 9.57 TERC TERT
9 embryonic hemopoiesis GO:0035162 9.56 IL3 KITLG
10 positive regulation of DNA replication GO:0045740 9.56 CSF2 EPO IL3 KITLG
11 pseudouridine synthesis GO:0001522 9.54 DKC1 NOP10
12 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.54 DKC1 NHP2 NOP10
13 positive regulation of hematopoietic stem cell proliferation GO:1902035 9.52 KITLG THPO
14 positive regulation of interleukin-23 production GO:0032747 9.51 CSF2 IFNG
15 positive regulation of killing of cells of other organism GO:0051712 9.49 IFNG PRF1
16 rRNA pseudouridine synthesis GO:0031118 9.33 DKC1 NHP2 NOP10
17 snRNA pseudouridine synthesis GO:0031120 9.13 DKC1 NHP2 NOP10
18 telomere maintenance via telomerase GO:0007004 9.02 DKC1 NHP2 NOP10 TERC TERT

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.67 CSF2 IL3 KITLG THPO
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.63 CSF2 IL3 KITLG
3 telomerase activity GO:0003720 9.43 DKC1 TERC TERT
4 cytokine activity GO:0005125 9.43 CSF2 EPO IFNG IL3 KITLG THPO
5 RNA-directed DNA polymerase activity GO:0003964 9.4 TERC TERT
6 box H/ACA snoRNA binding GO:0034513 9.33 DKC1 NHP2 NOP10
7 telomerase RNA reverse transcriptase activity GO:0003721 9.32 TERC TERT
8 telomerase RNA binding GO:0070034 8.92 DKC1 NHP2 NOP10 TERT
9 protein binding GO:0005515 10.36 CD55 CD59 CSF2 DKC1 EPO IFNG

Sources for Aplastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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