AA
MCID: APL001
MIFTS: 74

Aplastic Anemia (AA)

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

Aliases & Classifications for Aplastic Anemia

MalaCards integrated aliases for Aplastic Anemia:

Name: Aplastic Anemia 58 39 12 77 54 76 38 30 13 13 6 44 15 64 74
Aplastic Anemia, Susceptibility to 58 6
Idiopathic Aplastic Anemia 54 60
Secondary Aplastic Anemia 54 74
Anemia Aplastic 54 56
Idiopathic Bone Marrow Failure 60
Aplastic Anemia, Idiopathic 74
Aplastic Anemia Idiopathic 54
Anemia, Aplastic 45
Aa 76

Characteristics:

Orphanet epidemiological data:

60
idiopathic aplastic anemia
Age of onset: Adult; Age of death: adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:12449
OMIM 58 609135
KEGG 38 H01132
ICD9CM 36 284.9
MeSH 45 D000741
NCIt 51 C2870
SNOMED-CT 69 79000000
MESH via Orphanet 46 C538494
ICD10 via Orphanet 35 D61.0
UMLS via Orphanet 75 C0348890
Orphanet 60 ORPHA88

Summaries for Aplastic Anemia

NIH Rare Diseases : 54 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 deficiency anemia, and has symptoms including angina pectoris, edema and chest pain. 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 Lenograstim and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and t cells, and related phenotypes are aplastic anemia and bone marrow hypocellularity

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 : 58 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 : 44 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 : 76 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 : 64 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 : 77 Aplastic anemia is a rare disease in which the body fails to produce blood cells in sufficient numbers.... 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 555)
# Related Disease Score Top Affiliating Genes
1 paroxysmal nocturnal hemoglobinuria 33.3 CD55 CD59 PIGA
2 deficiency anemia 33.2 EPO IL3 THPO
3 revesz syndrome 33.0 DKC1 NOP10 TERC TERT TINF2
4 dyskeratosis congenita 32.9 CSF2 DKC1 NHP2 NOP10 TERC TERT
5 dyskeratosis congenita, autosomal recessive 1 32.6 NHP2 NOP10 TERT
6 hemoglobinuria 31.9 CD55 CD59 EPO PIGA
7 myelodysplastic syndrome 31.7 CD55 CD59 CSF2 EPO IL3 KITLG
8 fanconi anemia, complementation group a 31.4 DKC1 IL3 KITLG NBN TERC THPO
9 leukemia, acute myeloid 31.3 CSF2 IL3 KITLG TERT THPO
10 pancytopenia 31.1 CD55 CSF2 DKC1 EPO IL3 TERT
11 mucormycosis 31.0 CSF2 IFNG
12 leukemia, chronic myeloid 30.9 CSF2 EPO IL3 KITLG THPO
13 acquired immunodeficiency syndrome 30.9 CSF2 EPO IFNG
14 hemolytic anemia 30.9 CD55 CD59 EPO PIGA
15 polycythemia 30.8 EPO IL3 KITLG THPO
16 polycythemia vera 30.7 EPO IL3 KITLG THPO
17 shwachman-diamond syndrome 1 30.7 DKC1 RPL5 SBDS
18 transient erythroblastopenia of childhood 30.6 EPO KITLG
19 paroxysmal nocturnal hemoglobinuria 1 30.6 PIGA TERC
20 large granular lymphocyte leukemia 30.6 CSF2 IFNG
21 severe congenital neutropenia 30.5 CSF2 IL3 KITLG
22 diamond-blackfan anemia 30.4 CSF2 EPO IL3 KITLG RPL5 THPO
23 cyclic neutropenia 30.3 CSF2 IFNG IL3 KITLG
24 pulmonary fibrosis 30.3 TERC TERT TINF2
25 miliary tuberculosis 30.2 EPO IFNG
26 felty syndrome 30.2 CSF2 IL3
27 amyloidosis aa 12.6
28 helsmoortel-van der aa syndrome 12.6
29 retinopathy aplastic anemia neurological abnormalities 12.3
30 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 12.1
31 alopecia areata 12.1
32 bone marrow failure syndrome 1 12.0
33 congenital hypoplastic anemia 11.9
34 adnp syndrome 11.9
35 dyskeratosis congenita, autosomal dominant 6 11.8
36 williams-beuren region duplication syndrome 11.7
37 dyskeratosis congenita, autosomal dominant 2 11.6
38 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.6
39 eosinophilic fasciitis 11.5
40 amegakaryocytic thrombocytopenia, congenital 11.4
41 immunodeficiency 21 11.4
42 adnp-related intellectual disability and autism spectrum disorder 11.4
43 aarskog-scott syndrome 11.4
44 renal nutcracker syndrome 11.3
45 sveinsson chorioretinal atrophy 11.3
46 wt limb-blood syndrome 11.3
47 dyskeratosis congenita, autosomal dominant 3 11.3
48 dyskeratosis congenita, autosomal recessive 5 11.3
49 superior mesenteric artery syndrome 11.2
50 7q11.23 duplication syndrome 11.2

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



Diseases related to Aplastic Anemia

Symptoms & Phenotypes for Aplastic Anemia

Human phenotypes related to Aplastic Anemia:

33
# Description HPO Frequency HPO Source Accession
1 aplastic anemia 33 obligate (100%) HP:0001915
2 bone marrow hypocellularity 33 HP:0005528

Clinical features from OMIM:

609135

UMLS symptoms related to Aplastic Anemia:


angina pectoris, edema, chest pain

MGI Mouse Phenotypes related to Aplastic Anemia:

47
# 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 CD59 CSF2 DKC1 EPO IFNG KITLG
3 endocrine/exocrine gland MP:0005379 10.06 CD59 CSF2 IFNG KITLG NBN PRF1
4 immune system MP:0005387 10.06 CSF2 DKC1 EPO 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: 64

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 228)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
2
tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 1401-55-4
3
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 22916-47-8 4189
4
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
5
Sargramostim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 123774-72-1, 83869-56-1
6
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-18-0, 6055-19-2 2907
7
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 1 53-03-2 5865
8
Iron Approved, Experimental Phase 4,Phase 2 7439-89-6, 15438-31-0 27284 23925
9
Deferasirox Approved, Investigational Phase 4,Phase 2 201530-41-8 5493381
10
Radium Ra 223 dichloride Approved, Investigational Phase 4,Phase 1,Phase 2 444811-40-9
11
Posaconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 171228-49-2 147912
12
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
13
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
14
Sodium Citrate Approved, Investigational Phase 4 68-04-2
15
Mechlorethamine Approved, Investigational Phase 4,Phase 2,Not Applicable 51-75-2 4033
16
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 1406-16-2
17
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
18
Calcium Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 7440-70-2 271
19
Vitamin D3 Approved, Nutraceutical Phase 4,Not Applicable 67-97-0 5280795 6221
20
Ergocalciferol Approved, Nutraceutical Phase 4,Not Applicable 50-14-6 5280793
21
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
22 Cyclosporins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
23 Dermatologic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
24 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
25 Calcineurin Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
27 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
28 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
29 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
30 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
31 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
32 Antilymphocyte Serum Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Thymoglobulin Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
34 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
37 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
38 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
39 Antiparasitic Agents Phase 4,Phase 2,Not Applicable
40 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 Bone Density Conservation Agents Phase 4,Phase 1,Phase 2,Not Applicable
43 Antibodies Phase 4,Phase 2,Phase 1,Not Applicable
44 Immunoglobulins Phase 4,Phase 2,Phase 1,Not Applicable
45 Iron Chelating Agents Phase 4,Phase 2
46 Chelating Agents Phase 4,Phase 2
47 Steroid Synthesis Inhibitors Phase 4,Phase 2,Not Applicable
48 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 2,Not Applicable
49 Antiprotozoal Agents Phase 4,Phase 2,Not Applicable
50 Hematinics Phase 4

Interventional clinical trials:

(show top 50) (show all 282)
# 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 Thymoglobulin;Cyclosporine Oral Product
7 Eltrombopag in Children With Idiopathic Aplastic Anemia Recruiting NCT03243656 Phase 4 Eltrombopag
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 King's Invasive Aspergillosis Study II Active, not recruiting NCT02875743 Phase 4 Posaconazole
11 Ferric Citrate in ESRD Pilot Project Active, not recruiting NCT03055598 Phase 4 Ferric Citrate
12 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Enrolling by invitation NCT03176849 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 Combination of Thrombopoietin Mimetic and Immunosuppressive Therapy in Aplastic Anaemia Not yet recruiting NCT03896971 Phase 4 Combination of thrombopoietin mimetic and cyclosporin A
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 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 Study of AMG531(Romiplostim) in Patients With Aplastic Anemia Not yet recruiting NCT03957694 Phase 2, Phase 3 Romiplostim
29 Peripheral Blood Allogenic Stem Cell Transplantation Using Non-anti Thymocyte Globulin Regimens in Severe Aplastic Anemia Patients Not yet recruiting NCT03295058 Phase 2, Phase 3 Non ATG Conditioning regimen;GVHD Prophylaxis;ATG conditioning regimen
30 Hetrombopag or Placebo in Treatment-Naive Severe Aplastic Anemia Not yet recruiting NCT03825744 Phase 3 Hetrombopag Olamine+Standard Therapy;Placebo+Standard Therapy
31 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
32 Trial of Two Central Venous Catheter (CVC) Flushing Schemes in Pediatric Hematology and Oncology Patients Terminated NCT01343680 Phase 3 Heparin;Normal saline
33 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
34 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)
35 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
36 A Single-Arm Phase 2 Study With Optimized Standard Protocol for Severe Aplastic Anemia Unknown status NCT02203396 Phase 2 rabbit ATG, Cyclosporine, Levamisole
37 Mesenchymal Stem Cells Co-transplantation in Alternative Donor Transplantation of Severe Aplastic Anemia. Unknown status NCT02247973 Phase 2
38 Haploidentical Stem Cell Transplantation for Children With Acquired Severe Aplastic Anemia Unknown status NCT01759732 Phase 2 Fludarabine;Cyclophosphamide
39 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
40 Rabbit Antithymocyte Globulin (Thymoglobuline) With Ciclosporin for Patients With Acquired Aplastic Anaemia Unknown status NCT00471848 Phase 2 rabbit antithymocyte globulin
41 Mesenchymal Stem Cells Transplantation to Patients With Relapsed/Refractory Aplastic Anemia. Unknown status NCT01305694 Phase 1, Phase 2
42 Alemtuzumab and Low-Dose Cyclosporine in Treating Patients With Severe Aplastic Anemia or Acquired Marrow Failure Unknown status NCT00895739 Phase 2 cyclosporine
43 Safety and Efficacy Study of Umbilical Cord/Placenta-Derived Mesenchymal Stem Cells to Treat Severe Aplastic Anemia Unknown status NCT01182662 Phase 2
44 Safety and Efficacy Study of Ex Vivo Immunotherapy for Treatment of Aplastic Anemia Unknown status NCT00399971 Phase 1, Phase 2 Ex vivo immunotherapy
45 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
46 Sirolimus and Cyclosporine for Treatment-Resistant Aplastic Anemia Unknown status NCT00319878 Phase 1, Phase 2 Sirolimus;Cyclosporine
47 Umbilical Cord Blood and Placental Blood Transplantation in Treating Patients With Hematologic Cancer or Aplastic Anemia Unknown status NCT00008164 Phase 2
48 Nandrolone Decanoate in the Treatment of Telomeropathies Unknown status NCT02055456 Phase 1, Phase 2 Nandrolone Decanoate
49 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
50 Safety Study of CD3/CD19 Depleted Haploidentical Stem Cells Unknown status NCT01919866 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 30 IFNG NBN PRF1 SBDS TERT

Anatomical Context for Aplastic Anemia

MalaCards organs/tissues related to Aplastic Anemia:

42
Bone, Bone Marrow, T Cells, Heart, Lung, Liver, Myeloid

Publications for Aplastic Anemia

Articles related to Aplastic Anemia:

(show top 50) (show all 3170)
# Title Authors Year
1
The world's first clinical trial for an aplastic anemia patient with thrombocytopenia administering platelets generated from autologous iPS cells. ( 30535854 )
2019
2
A response to the letter to the editor on Shaikh et al. Aplastic anemia secondary to propylthiouracil: A rare and life-threatening adverse effect. ( 29587606 )
2019
3
Hepatitis-associated Aplastic Anemia: A Report of 3 Cases Associated With HAV. ( 29697580 )
2019
4
Nivolumab-induced aplastic anemia: A case report and literature review. ( 28825374 )
2019
5
Aplastic anemia secondary to propylthiouracil: A rare and life-threatening adverse effect. ( 29357782 )
2019
6
Evaluating the Efficacy and Anti-infective Effect of High-dose Intravenous Immunoglobulin Adjuvant Therapy for Acquired Aplastic Anemia Children. ( 30339655 )
2019
7
Impact of T-cell depletion strategies on outcomes following hematopoietic stem cell transplantation for idiopathic aplastic anemia: A study on behalf of the European blood and marrow transplant severe aplastic anemia working party. ( 30328134 )
2019
8
Umbilical Cord Blood Transplantation Using Reduced-Intensity Conditioning without Antithymocyte Globulin in Adult Patients with Severe Aplastic Anemia. ( 30292011 )
2019
9
Aplastic anemia in the elderly: a nationwide survey on behalf of the French Reference Center for Aplastic Anemia. ( 30262561 )
2019
10
Incidence and treatment outcome of aplastic anemia in Taiwan-real-world data from single-institute experience and a nationwide population-based database. ( 30178191 )
2019
11
Immunosuppressive therapy for aplastic anemia: a single-center experience from western India. ( 30173288 )
2019
12
Cyclosporine Therapy in Patients with Transfusion-independent Non-severe Aplastic Anemia: A Retrospective Analysis. ( 30146592 )
2019
13
A case of reversible cerebral vasoconstriction syndrome developing during treatment of adult aplastic anemia. ( 29987351 )
2019
14
Circulating S100A8 and S100A9 protein levels in plasma of patients with acquired aplastic anemia and myelodysplastic syndromes. ( 29958797 )
2019
15
Current Treatment Patterns of Aplastic Anemia in China: A Prospective Cohort Registry Study. ( 31091521 )
2019
16
Treatment Effect of Low-Intensity Pulsed Ultrasound on Benzene- and Cyclophosphamide-Induced Aplastic Anemia in Rabbits. ( 31087076 )
2019
17
Treatment of menorrhagia due to aplastic anemia by hysteroscopic resection of endometrial functional layer and levonorgestrel-releasing intra-uterine system: Three case reports. ( 31027059 )
2019
18
Early Detection of Myelodysplastic Syndrome/Leukemia-associated Mutations Using NGS Is Critical in Treating Aplastic Anemia. ( 31016513 )
2019
19
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes. ( 30995915 )
2019
20
Eltrombopag for refractory severe aplastic anemia: dosing, duration, long term outcomes and clonal evolution. ( 30992268 )
2019
21
Immunosuppressive therapy (IST) in adult patients with acquired aplastic anemia (AA): A single-center experience over the past 15 years. ( 30977158 )
2019
22
Outcome of allogeneic hematopoietic stem cell transplantation in adult patients with hepatitis-associated aplastic anemia. ( 30963471 )
2019
23
Increased CD8+CD27+perforin+ T cells and decreased CD8+CD70+ T cells may be immune biomarkers for aplastic anemia severity. ( 30953940 )
2019
24
Hodgkin lymphoma patients have an increased incidence of idiopathic acquired aplastic anemia. ( 30951562 )
2019
25
Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study. ( 30948484 )
2019
26
Comparable Outcomes of First-Line Hematopoietic Stem Cell Transplantation from Unrelated and Matched Sibling Donors in Adult Patients with Aplastic Anemia: A Retrospective Single-Center Study. ( 30926448 )
2019
27
The oral microbiome of patients undergoing treatment for severe aplastic anemia: a pilot study. ( 30919073 )
2019
28
Use of eltrombopag in aplastic anemia in Europe. ( 30915499 )
2019
29
Evaluation of eltrombopag in patients with aplastic anemia in real-world experience. ( 30911464 )
2019
30
Aplastic Anemia & MDS International Foundation (AA&MDSIF): Bone Marrow Failure Disease Scientific Symposium 2018. ( 30908982 )
2019
31
Abnormalities of quantities and functions of CD56bright natural killer cells in non-severe aplastic Anemia. ( 30907293 )
2019
32
Development of hemolytic paroxysmal nocturnal hemoglobinuria without graft loss following hematopoietic stem cell transplantation for acquired aplastic anemia. ( 30900367 )
2019
33
Eltrombopag combined with cyclosporine may have an effect on very severe aplastic anemia. ( 30891613 )
2019
34
Clinical and morphologic predictors of outcome in older aplastic anemia patients treated with eltrombopag. ( 30890599 )
2019
35
Escape hematopoiesis by HLA-B5401-lacking hematopoietic stem progenitor cells in men with acquired aplastic anemia. ( 30890597 )
2019
36
Exosomal sphingosine 1-phosphate secreted by mesenchymal stem cells regulated Treg/Th17 balance in aplastic anemia. ( 30889317 )
2019
37
Current concepts of the Pathogenesis of Aplastic Anemia. ( 30864496 )
2019
38
Multiple risks analysis for aplastic anemia in Zhejiang, China: A case-control study. ( 30813154 )
2019
39
Nivolumab Induced Lethal Aplastic Anemia in a Patient with Metastatic Melanoma. ( 30792642 )
2019
40
CD56bright natural killer cells exhibit abnormal phenotype and function in severe aplastic anemia. ( 30779419 )
2019
41
Contribution of autophagy-related gene 5 variants to acquired aplastic anemia in Han-Chinese population. ( 30767262 )
2019
42
GDF11 is increased in patients with aplastic anemia. ( 30727851 )
2019
43
A Case of Aplastic Anemia Associated With Long-Term Metronidazole Use. ( 30727812 )
2019
44
False Negativity of Tc-99m Labeled Sodium Phytate Bone Marrow Imaging Under the Effect of G-CSF Prescription in Aplastic Anemia: A Case Report. ( 30705914 )
2019
45
Successful treatment of severe aplastic anemia with syngeneic stem cell transplantation in the setting of active disseminated mucormycosis. ( 30705813 )
2019
46
Antithymocyte globulin and cyclosporin: standard of care also for older patients with aplastic anemia. ( 30705112 )
2019
47
Immunosuppressive therapy versus haploidentical transplantation in adults with acquired severe aplastic anemia. ( 30670825 )
2019
48
Nationwide survey in France on the use of romiplostim in patients with refractory severe aplastic anemia. ( 30670823 )
2019
49
Comparison of Outcomes of Frontline Immunosuppressive Therapy and Frontline Haploidentical Hematopoietic Stem Cell Transplantation for Children with Severe Aplastic Anemia Who Lack an HLA-Matched Sibling Donor. ( 30658223 )
2019
50
A cohort study of immune and hematopoietic functionality changes in severe aplastic anemia patients treated with immunosuppressive therapy. ( 30653151 )
2019

Variations for Aplastic Anemia

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

76
# 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 rs483352771

ClinVar genetic disease variations for Aplastic Anemia:

6 (show top 50) (show all 210)
# Gene Variation Type Significance SNP ID Assembly Location
1 SBDS NM_016038.2(SBDS): c.258+2T> C single nucleotide variant Pathogenic rs113993993 GRCh37 Chromosome 7, 66459197: 66459197
2 SBDS NM_016038.2(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.58G> A single nucleotide variant Benign rs113487931 GRCh37 Chromosome 3, 169482791: 169482791
6 TERC NR_001566.1(TERC): n.58G> A single nucleotide variant Benign rs113487931 GRCh38 Chromosome 3, 169765003: 169765003
7 TERC NR_001566.1(TERC): n.72C> G single nucleotide variant Pathogenic rs199422265 GRCh37 Chromosome 3, 169482777: 169482777
8 TERC NR_001566.1(TERC): n.72C> G single nucleotide variant Pathogenic rs199422265 GRCh38 Chromosome 3, 169764989: 169764989
9 TERC NR_001566.1(TERC): n.110_113delGACT deletion Pathogenic rs199422270 GRCh37 Chromosome 3, 169482736: 169482739
10 TERC NR_001566.1(TERC): n.110_113delGACT deletion Pathogenic rs199422270 GRCh38 Chromosome 3, 169764948: 169764951
11 TERT NM_198253.2(TERT): c.604G> A (p.Ala202Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121918661 GRCh37 Chromosome 5, 1294397: 1294397
12 TERT NM_198253.2(TERT): c.604G> A (p.Ala202Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121918661 GRCh38 Chromosome 5, 1294282: 1294282
13 TERT NM_198253.2(TERT): c.1234C> T (p.His412Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs34094720 GRCh37 Chromosome 5, 1293767: 1293767
14 TERT NM_198253.2(TERT): c.1234C> T (p.His412Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs34094720 GRCh38 Chromosome 5, 1293652: 1293652
15 TERT NM_198253.2(TERT): c.2080G> A (p.Val694Met) single nucleotide variant Pathogenic rs121918662 GRCh37 Chromosome 5, 1279456: 1279456
16 TERT NM_198253.2(TERT): c.2080G> A (p.Val694Met) single nucleotide variant Pathogenic rs121918662 GRCh38 Chromosome 5, 1279341: 1279341
17 TERT NM_198253.2(TERT): c.2315A> G (p.Tyr772Cys) single nucleotide variant Pathogenic rs121918663 GRCh37 Chromosome 5, 1272367: 1272367
18 TERT NM_198253.2(TERT): c.2315A> G (p.Tyr772Cys) single nucleotide variant Pathogenic rs121918663 GRCh38 Chromosome 5, 1272252: 1272252
19 TERT NM_198253.2(TERT): c.3268G> A (p.Val1090Met) single nucleotide variant Uncertain significance rs121918664 GRCh37 Chromosome 5, 1254510: 1254510
20 TERT NM_198253.2(TERT): c.3268G> A (p.Val1090Met) single nucleotide variant Uncertain significance rs121918664 GRCh38 Chromosome 5, 1254395: 1254395
21 PRF1 NM_001083116.2(PRF1): c.1163G> T (p.Ser388Ile) single nucleotide variant Pathogenic rs193302875 GRCh37 Chromosome 10, 72358314: 72358314
22 PRF1 NM_001083116.2(PRF1): c.1163G> T (p.Ser388Ile) single nucleotide variant Pathogenic rs193302875 GRCh38 Chromosome 10, 70598558: 70598558
23 PRF1 NM_001083116.2(PRF1): c.11G> A (p.Arg4His) single nucleotide variant Conflicting interpretations of pathogenicity rs35418374 GRCh37 Chromosome 10, 72360648: 72360648
24 PRF1 NM_001083116.2(PRF1): c.11G> A (p.Arg4His) single nucleotide variant Conflicting interpretations of pathogenicity rs35418374 GRCh38 Chromosome 10, 70600892: 70600892
25 IFNG NM_000619.2(IFNG): c.115-484_115-457CA[12] NT expansion risk factor rs34079299 GRCh37 Chromosome 12, 68552496: 68552497
26 IFNG NM_000619.2(IFNG): c.115-484_115-457CA[12] NT expansion risk factor rs34079299 GRCh38 Chromosome 12, 68158716: 68158717
27 SBDS NM_016038.2(SBDS): c.258+1G> C single nucleotide variant Pathogenic rs113993992 GRCh37 Chromosome 7, 66459198: 66459198
28 SBDS NM_016038.2(SBDS): c.258+1G> C single nucleotide variant Pathogenic rs113993992 GRCh38 Chromosome 7, 66994211: 66994211
29 TERT NM_198253.2(TERT): c.508G> A (p.Val170Met) single nucleotide variant Uncertain significance rs387907248 GRCh37 Chromosome 5, 1294493: 1294493
30 TERT NM_198253.2(TERT): c.508G> A (p.Val170Met) single nucleotide variant Uncertain significance rs387907248 GRCh38 Chromosome 5, 1294378: 1294378
31 TINF2 NM_001099274.2(TINF2): c.862T> C (p.Phe288Leu) single nucleotide variant Pathogenic rs199422317 GRCh37 Chromosome 14, 24709824: 24709824
32 TINF2 NM_001099274.2(TINF2): c.862T> C (p.Phe288Leu) single nucleotide variant Pathogenic rs199422317 GRCh38 Chromosome 14, 24240618: 24240618
33 TERT NM_198253.2(TERT): c.2097C> T (p.Ala699=) single nucleotide variant Benign rs33963617 GRCh37 Chromosome 5, 1279439: 1279439
34 TERT NM_198253.2(TERT): c.2097C> T (p.Ala699=) single nucleotide variant Benign rs33963617 GRCh38 Chromosome 5, 1279324: 1279324
35 TERT NM_198253.2(TERT): c.2147C> T (p.Ala716Val) single nucleotide variant Pathogenic rs199422298 GRCh37 Chromosome 5, 1278895: 1278895
36 TERT NM_198253.2(TERT): c.2147C> T (p.Ala716Val) single nucleotide variant Pathogenic rs199422298 GRCh38 Chromosome 5, 1278780: 1278780
37 TERT NM_198253.2(TERT): c.2537A> G (p.Tyr846Cys) single nucleotide variant Pathogenic rs199422302 GRCh37 Chromosome 5, 1268680: 1268680
38 TERT NM_198253.2(TERT): c.2537A> G (p.Tyr846Cys) single nucleotide variant Pathogenic rs199422302 GRCh38 Chromosome 5, 1268565: 1268565
39 TERT NM_198253.2(TERT): c.2628C> G (p.His876Gln) single nucleotide variant Pathogenic rs199422303 GRCh37 Chromosome 5, 1266605: 1266605
40 TERT NM_198253.2(TERT): c.2628C> G (p.His876Gln) single nucleotide variant Pathogenic rs199422303 GRCh38 Chromosome 5, 1266490: 1266490
41 TERT NM_198253.2(TERT): c.2935C> T (p.Arg979Trp) single nucleotide variant Uncertain significance rs199422305 GRCh37 Chromosome 5, 1260624: 1260624
42 TERT NM_198253.2(TERT): c.2935C> T (p.Arg979Trp) single nucleotide variant Uncertain significance rs199422305 GRCh38 Chromosome 5, 1260509: 1260509
43 TERT NM_198253.2(TERT): c.3039C> T (p.His1013=) single nucleotide variant Benign rs33954691 GRCh37 Chromosome 5, 1255520: 1255520
44 TERT NM_198253.2(TERT): c.3039C> T (p.His1013=) single nucleotide variant Benign rs33954691 GRCh38 Chromosome 5, 1255405: 1255405
45 TERT NM_198253.2(TERT): c.3043T> C (p.Cys1015Arg) single nucleotide variant Pathogenic rs199422307 GRCh37 Chromosome 5, 1255516: 1255516
46 TERT NM_198253.2(TERT): c.3043T> C (p.Cys1015Arg) single nucleotide variant Pathogenic rs199422307 GRCh38 Chromosome 5, 1255401: 1255401
47 TERT NM_198253.2(TERT): c.3184G> A (p.Ala1062Thr) single nucleotide variant risk factor rs35719940 GRCh37 Chromosome 5, 1254594: 1254594
48 TERT NM_198253.2(TERT): c.3184G> A (p.Ala1062Thr) single nucleotide variant risk factor rs35719940 GRCh38 Chromosome 5, 1254479: 1254479
49 TERT NM_198253.2(TERT): c.835G> A (p.Ala279Thr) single nucleotide variant Benign rs61748181 GRCh37 Chromosome 5, 1294166: 1294166
50 TERT NM_198253.2(TERT): c.835G> A (p.Ala279Thr) single nucleotide variant Benign rs61748181 GRCh38 Chromosome 5, 1294051: 1294051

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:

38
# 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 17)
# Super pathways Score Top Affiliating Genes
1 12.63 EPO IFNG IL3 KITLG TERC TERT
2
Show member pathways
12.39 DKC1 NHP2 TERT TINF2
3
Show member pathways
12.32 CSF2 IFNG IL3 PRF1
4
Show member pathways
12.24 CSF2 EPO IFNG IL3 THPO
5
Show member pathways
12.01 DKC1 IFNG IL3 KITLG TERT THPO
6 11.92 IL3 KITLG TERT THPO
7
Show member pathways
11.78 IL3 NBN TERT TINF2
8 11.69 EPO IFNG IL3
9 11.69 DKC1 NHP2 NOP10 SBDS
10
Show member pathways
11.58 CSF2 IFNG IL3
11 11.56 CD59 CSF2 EPO IFNG IL3 KITLG
12 11.37 EPO IL3 KITLG
13 11.37 DKC1 IFNG NBN TERT TINF2
14 11.3 CSF2 EPO IL3 KITLG
15 11.15 CD55 CD59 CSF2 EPO IL3 KITLG
16 11.04 CSF2 IFNG IL3
17
Show member pathways
11.03 NBN TERT TINF2

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 9.73 NBN NHP2 TERT TINF2
2 Cajal body GO:0015030 9.67 DKC1 NHP2 NOP10 TERC
3 chromosome, telomeric region GO:0000781 9.62 NBN TERC TERT TINF2
4 nuclear telomere cap complex GO:0000783 9.48 TERT TINF2
5 small nucleolar ribonucleoprotein complex GO:0005732 9.46 NHP2 NOP10
6 box H/ACA snoRNP complex GO:0031429 9.43 DKC1 NHP2 NOP10
7 telomerase catalytic core complex GO:0000333 9.4 TERC TERT
8 box H/ACA scaRNP complex GO:0072589 9.33 DKC1 NHP2 NOP10
9 box H/ACA telomerase RNP complex GO:0090661 9.26 DKC1 NHP2 NOP10 TERC
10 telomerase holoenzyme complex GO:0005697 9.02 DKC1 NHP2 NOP10 TERC TERT
11 extracellular region GO:0005576 10.15 CD55 CD59 CSF2 EPO IFNG IL3
12 nucleolus GO:0005730 10.05 DKC1 NBN NHP2 NOP10 RPL5 SBDS

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.95 CSF2 EPO IFNG IL3 KITLG THPO
2 regulation of signaling receptor activity GO:0010469 9.93 CSF2 EPO IFNG IL3 KITLG THPO
3 cell proliferation GO:0008283 9.8 EPO KITLG NBN SBDS THPO
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 rRNA processing GO:0006364 9.65 DKC1 NHP2 NOP10 RPL5 SBDS
7 positive regulation of Ras protein signal transduction GO:0046579 9.56 EPO KITLG
8 embryonic hemopoiesis GO:0035162 9.55 IL3 KITLG
9 pseudouridine synthesis GO:0001522 9.54 DKC1 NOP10
10 positive regulation of hematopoietic stem cell proliferation GO:1902035 9.52 KITLG THPO
11 positive regulation of interleukin-23 production GO:0032747 9.51 CSF2 IFNG
12 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.5 DKC1 NHP2 NOP10
13 positive regulation of killing of cells of other organism GO:0051712 9.49 IFNG PRF1
14 rRNA pseudouridine synthesis GO:0031118 9.33 DKC1 NHP2 NOP10
15 snRNA pseudouridine synthesis GO:0031120 9.13 DKC1 NHP2 NOP10
16 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 cytokine activity GO:0005125 9.63 CSF2 EPO IFNG IL3 KITLG THPO
3 telomerase activity GO:0003720 9.43 DKC1 TERC TERT
4 RNA-directed DNA polymerase activity GO:0003964 9.4 TERC TERT
5 telomerase RNA reverse transcriptase activity GO:0003721 9.32 TERC TERT
6 box H/ACA snoRNA binding GO:0034513 9.13 DKC1 NHP2 NOP10
7 telomerase RNA binding GO:0070034 8.92 DKC1 NHP2 NOP10 TERT
8 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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