AA
MCID: APL001
MIFTS: 74

Aplastic Anemia (AA)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Aplastic Anemia

MalaCards integrated aliases for Aplastic Anemia:

Name: Aplastic Anemia 57 11 19 58 75 73 28 12 5 41 14 36 63 71
Aplastic Anemia, Susceptibility to 57 5
Idiopathic Bone Marrow Failure 58 33
Idiopathic Aplastic Anemia 19 58
Secondary Aplastic Anemia 19 71
Anemia Aplastic 19 53
Anaemia Due to Decreased Red Cell Production 33
Refractive Hypoproliferative Anaemia 33
Red Blood Cells Hypoplastic Anaemia 33
Aplastic Anaemia Due to Toxic Cause 33
Idiopathic Aplastic Anaemia Nos 33
Aplastic Anemia, Idiopathic 71
Myeloid Bone Marrow Aplasia 33
Aplastic Anemia Idiopathic 19
Hypoproliferative Anaemia 33
Aa - [aplastic Anaemia] 33
Hypoplastic Anaemia Nos 33
Haematopoietic Aplasia 33
Toxic Aplastic Anaemia 33
Aleukia Haemorrhagica 33
Aplastic Bone Marrow 33
Medullary Hypoplasia 33
Aplasia Bone Marrow 33
Erythroid Aplasia 33
Anemia, Aplastic 43
Panmyelophthisis 33
Panhemocytopenia 33
Panhaematopenia 33
Toxic Anaemia 33
Pancytopenia 33
Aa 73

Characteristics:


Prevelance:

Idiopathic Aplastic Anemia: 1-9/1000000 (Brazil) 58

Age Of Onset:

Idiopathic Aplastic Anemia: Adult 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:12449
OMIM® 57 609135
ICD9CM 34 284.9
MeSH 43 D000741
NCIt 49 C2870
SNOMED-CT 68 154807001
MESH via Orphanet 44 C538494
ICD10 via Orphanet 32 D61.0
UMLS via Orphanet 72 C0348890
UMLS 71 C0002874 C0271908 C0348890

Summaries for Aplastic Anemia

MedlinePlus: 41 What is aplastic anemia? Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't make enough new blood cells. It happens when there is damage to stem cells inside your bone marrow. There are different types of aplastic anemia, including Fanconi anemia. What causes aplastic anemia? The causes of aplastic anemia can include: Autoimmune disorders, which are the most common cause Certain inherited gene changes, such as the one that can cause Fanconi anemia Toxic substances, such as pesticides, arsenic, and benzene Radiation therapy and chemotherapy for cancer Certain medicines Viral infections such as hepatitis, Epstein-Barr virus, or HIV Pregnancy In many people, the cause is unknown. This is called idiopathic aplastic anemia. What are the symptoms of aplastic anemia? Aplastic anemia can develop suddenly or slowly. It can be mild or severe. The symptoms of aplastic anemia can include: Fatigue Weakness Dizziness Shortness of breath Easy bruising or bleeding What other problems can aplastic anemia cause? Aplastic anemia can cause other problems, including frequent infections and bleeding. It raises your risk of developing a serious blood disorder. If not treated, aplastic anemia can also lead to heart problems such as an arrhythmia (a problem with the rate or rhythm of your heartbeat), an enlarged heart, or heart failure. How is aplastic anemia diagnosed? To find out if you have aplastic anemia, your doctor will: Take your medical and your family medical histories Do a physical exam Order tests, such as tests to check if you have low numbers of cells in your bone marrow and blood What are the treatments for aplastic anemia? If you have aplastic anemia, your doctor will create a treatment plan for you. The plan will be based on how severe the anemia is and what is causing it. Treatments can include: Blood transfusions Blood and marrow stem cell transplants Medicines to suppress your immune system Because of the risk of blood disorders, your doctor will monitor your condition and screen you for blood disorders regularly. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary: Aplastic Anemia, also known as aplastic anemia, susceptibility to, is related to deficiency anemia and pulmonary fibrosis and/or bone marrow failure, telomere-related, 2, 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 Overview of interferons-mediated signaling pathway and Chromosome Maintenance. The drugs Posaconazole and Oprelvekin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are anemia and aplastic anemia

PubMed Health : 63 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.

GARD: 19 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.

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.

Wikipedia: 75 Aplastic anemia is a disease in which the body fails to produce blood cells in sufficient numbers. Blood... more...

Related Diseases for Aplastic Anemia

Diseases in the Aplastic Anemia family:

Congenital Aplastic Anemia Rare Acquired Aplastic Anemia

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

(show top 50) (show all 1309)
# Related Disease Score Top Affiliating Genes
1 deficiency anemia 33.6 THPO TERC IL3 EPO CSF3 CD59
2 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 33.6 TERC LOC110806306
3 diamond-blackfan anemia 33.4 TINF2 THPO TERT TERC SBDS RPL5
4 fanconi anemia, complementation group a 33.1 TINF2 THPO TERC SBDS NBN IL3
5 paroxysmal nocturnal hemoglobinuria 33.0 THPO PIGA IL3 CSF3 CD59
6 dyskeratosis congenita 33.0 TINF2 TERT TERC SBDS RPL5 NOP10
7 pancytopenia 32.9 THPO TERT PRF1 NBN IL3 IFNG
8 myelodysplastic syndrome 32.8 THPO TERT TERC SBDS PIGA IL3
9 shwachman-diamond syndrome 1 32.8 TINF2 TERT TERC SBDS RPL5 NOP10
10 hoyeraal hreidarsson syndrome 32.8 TINF2 TERT TERC DKC1
11 revesz syndrome 32.7 TINF2 TERT TERC NOP10 NHP2 DKC1
12 pure red-cell aplasia 32.7 RPL5 EPO CSF3
13 hemoglobinuria 32.5 THPO PIGA EPO CSF3 CD59
14 dyskeratosis congenita, autosomal recessive 1 32.5 TERC NOP10 NHP2
15 acute graft versus host disease 32.3 IFNG CSF3
16 leukemia, acute myeloid 32.3 THPO TERT PRF1 IL3 IFNG EPO
17 acute leukemia 32.2 THPO IL3 EPO CSF3
18 graft-versus-host disease 32.1 IFNG CSF3
19 neutropenia 32.1 THPO SBDS IL3 IFNG EPO CSF3
20 thrombocytopenia 32.1 THPO TERT SBDS IL3 IFNG EPO
21 granulocytopenia 32.0 IL3 CSF3
22 refractory anemia 31.8 EPO CSF3
23 myelofibrosis 31.5 THPO IL3 EPO CSF3
24 myeloproliferative neoplasm 31.4 THPO IL3 EPO CSF3
25 hemophagocytic lymphohistiocytosis 31.3 PRF1 IFNG CSF3
26 beta-thalassemia 31.2 TERT IL3 EPO CD59
27 polycythemia 31.2 THPO IL3 EPO
28 dyskeratosis congenita, x-linked 31.1 TINF2 TERT TERC SBDS RPL5 NOP10
29 amegakaryocytic thrombocytopenia, congenital 31.1 THPO SBDS IL3 DKC1
30 combined immunodeficiency 31.1 PRF1 IL3 IFNG DKC1 CSF3
31 interstitial lung disease 2 31.1 TINF2 TERT TERC NOP10 NHP2 IFNG
32 lymphoma, non-hodgkin, familial 31.1 PRF1 NBN IL3 CSF3 CD59
33 severe congenital neutropenia 31.1 THPO SBDS IL3 CSF3
34 polycythemia vera 31.0 THPO IL3 EPO CSF3
35 hypersplenism 31.0 THPO EPO CSF3
36 essential thrombocythemia 31.0 THPO TERT IL3 EPO CSF3
37 severe combined immunodeficiency 31.0 IL3 IFNG DKC1 CSF3
38 pulmonary fibrosis 30.9 TINF2 TERT TERC NHP2
39 dyskeratosis congenita, autosomal dominant 1 30.8 TINF2 TERT TERC NOP10 NHP2 LOC110806306
40 skin disease 30.8 TERT PRF1 IL3 IFNG DKC1 CSF3
41 coats disease 30.8 TINF2 TERC NOP10 NHP2 DKC1
42 blood platelet disease 30.8 THPO IL3 IFNG EPO CSF3
43 thrombocytosis 30.7 THPO IL3 EPO CSF3
44 hemoglobinopathy 30.6 IL3 EPO CSF3
45 gastroenteritis 30.6 IL3 IFNG CSF3
46 paroxysmal nocturnal hemoglobinuria 1 30.6 PIGA LOC110806306
47 treacher collins syndrome 1 30.4 SBDS RPL5 DKC1
48 cyclic neutropenia 30.4 SBDS IL3 IFNG CSF3
49 splenic sequestration 30.4 THPO EPO
50 diamond-blackfan anemia 6 30.1 RPL5 DIPK1A

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:

58 30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 58 30 Obligate (100%) Obligate (100%)
HP:0001903
2 aplastic anemia 30 Obligate (100%) HP:0001915
3 bone marrow hypocellularity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005528
4 pancytopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001876
5 reticulocytopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001896
6 thrombocytopenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001873
7 epistaxis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000421
8 neutropenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001875
9 gingival bleeding 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000225
10 retinal hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000573
11 recurrent infections 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002719
12 ecchymosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031364
13 autoimmune antibody positivity 58 Excluded (0%)

Clinical features from OMIM®:

609135 (Updated 08-Dec-2022)

UMLS symptoms related to Aplastic Anemia:


angina pectoris; chest pain; edema

MGI Mouse Phenotypes related to Aplastic Anemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.21 CD59 DIPK1A DKC1 EPO IFNG IL3
2 immune system MP:0005387 10.07 CD59 CSF3 DKC1 EPO IFNG IL3
3 cellular MP:0005384 10.06 CD59 DKC1 EPO IFNG IL3 NBN
4 neoplasm MP:0002006 9.95 DKC1 IFNG IL3 NBN PIGA PRF1
5 hematopoietic system MP:0005397 9.83 CD59 CSF3 DKC1 EPO IFNG IL3
6 respiratory system MP:0005388 9.7 CD59 DKC1 EPO IFNG IL3 TERT
7 mortality/aging MP:0010768 9.47 CD59 DKC1 EPO IFNG IL3 NBN

Drugs & Therapeutics for Aplastic Anemia

PubMed Health 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 170)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
2
Oprelvekin Approved, Investigational Phase 4 145941-26-0
3
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
4
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
5
Iron Approved Phase 4 7439-89-6 29936
6
Deferasirox Approved, Investigational Phase 4 201530-41-8 214348 5493381
7
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
8
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731
9
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
10 Antiprotozoal Agents Phase 4
11 Antiparasitic Agents Phase 4
12 Cytochrome P-450 Enzyme Inhibitors Phase 4
13 Vitamins Phase 4
14
Vitamin D2 Phase 4 3249
15 Trace Elements Phase 4
16 Calciferol Phase 4
17 Ergocalciferols Phase 4
18 Hydroxycholecalciferols Phase 4
19 Micronutrients Phase 4
20 Cyclosporins Phase 4
21 Immunosuppressive Agents Phase 4
22 Iron Chelating Agents Phase 4
23 Chelating Agents Phase 4
24
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
25
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 3 62-90-8 229455
26
Nandrolone decanoate Approved, Illicit Phase 3 360-70-3 9677
27
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904
28
Heparin, bovine Approved, Investigational, Withdrawn Phase 3 9005-49-6 22833565 9812414 772
29
Nandrolone Experimental, Investigational Phase 3 434-22-0 9904
30 Immunoglobulin G Phase 3
31 Anabolic Agents Phase 3
32 Androgens Phase 3
33 Antilymphocyte Serum Phase 3
34 Fibrinolytic Agents Phase 3
35 Anticoagulants Phase 3
36 Calcium heparin Phase 3
37
Levamisole Approved, Investigational, Vet_approved, Withdrawn Phase 2 14769-73-4 26879
38
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
39
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704
40
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
41
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
42
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
43
Basiliximab Approved, Investigational Phase 2 179045-86-4
44
Rituximab Approved Phase 2 174722-31-7
45
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
46
Alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
47
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
48
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
49
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
50
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1

Interventional clinical trials:

(show top 50) (show all 309)
# Name Status NCT ID Phase Drugs
1 Different Doses of Anti-thymocyte Globin With 2.5 or 3.75mg/kg to Treat Child Severe Aplastic Anemia Unknown status NCT01997372 Phase 4 ATG
2 Moderate-dose Cyclophosphamide for Childhood Acquired Aplastic Anemia Unknown status NCT01995331 Phase 4 cyclophosphamide,cyclosporine A
3 Multi-center Clinical Study of Immunosuppressants, Cyclophosphamide, And Cord Blood Transfusion in Treating Patients With Severe Aplastic Anemia Unknown status NCT02838992 Phase 4 Rabbit ATG, (Genzyme);Cy;CsA
4 Child With Severe Aplastic Anemia (SAA) Therapy: the Injection of Umbilical Cord Derived Mesenchymal Stem Cells. Unknown status NCT02218437 Phase 4 MSC+ATG
5 Randomized Clinical Trial of the Use of & Cyclosporine in Children With Sever Idiopathic Aplastic Anemia Completed NCT03243656 Phase 4 Eltrombopag
6 A Single Arm, Multicenter, Open Label Study of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia Completed NCT01546415 Phase 4 Desferasirox
7 Treatment With Thrombopoietin Mimetic Plus Immunosuppressive Therapy in Egyptian Patients With Aplastic Anaemia Completed NCT03896971 Phase 4 Combination of thrombopoietin mimetic and cyclosporin A
8 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Completed NCT03176849 Phase 4
9 Incidence of Invasive Fungal Disease in Patients Receiving Immunosuppressive Therapy, Intensive Chemotherapy or Reduced Intensity Haematopoietic Stem Cell Transplantation on Posaconazole Prophylaxis Completed NCT02875743 Phase 4 Posaconazole
10 Effect of Treatment Using rhIL-11 in Patients With Thrombocytopenia After Chemotherapy for Childhood Acute Lymphoblastic Leukemia Completed NCT02314273 Phase 4 rhIL-11
11 The Efficacy of Immunosuppressive Therapy Combined With Cord Blood Transfusion in Treatment of Severe Aplastic Anemia Recruiting NCT02745717 Phase 4 Thymoglobulin;Cyclosporine Oral Product
12 Open-label Study of Exjade in the Treatment of Transfusion-dependent Iron Overload in Aplastic Anemia Patients Undergoing Treatment Programs in Comparison With Control Group Terminated NCT01818726 Phase 4 ICL670;Chelation;No chelation
13 A Prospective Randomized Multicenter Study Comparing Different Dosages of Rabbit Antithymocyte Globulin (Thymoglobuline) in Patients With Severe Aplastic Anemia Unknown status NCT01844635 Phase 3 Thymoglobulin
14 Outcome of Peripheral Blood Allogenic Stem Cell Transplantation Using Non-anti Thymocyte Globulin (ATG ) Conditioning Regimens in Severe Aplastic Anemia Patients Unknown status NCT03295058 Phase 2, Phase 3 Non ATG Conditioning regimen;GVHD Prophylaxis;ATG conditioning regimen
15 Randomized Comparison of Cyclophosphamide Versus Fludarabine in Addition to Anti-thymocyte Globulin for the Conditioning Therapy in Allogeneic Hematopoietic Cell Transplantation for Adult Acquired Aplastic Anemia Unknown status NCT01145976 Phase 3 Cy-ATG;Flu-ATG
16 The Impact of Red Cell Age on Product Utilization in the Chronically Transfused Outpatient Population Unknown status NCT02393508 Phase 3
17 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Selected Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
18 A Phase 2/3 Study of AMG531 Combined With Ciclosporin A in Patients With Aplastic Anemia Previously Untreated With Immunosuppressive Therapy Completed NCT04095936 Phase 2, Phase 3 Romiplostim
19 Hematopoietic Stem Cell Transplant For Patients With Dyskeratosis Congenita and Severe Aplastic Anemia Completed NCT00455312 Phase 2, Phase 3 Campath 1H;Cyclophosphamide;Fludarabine;antithymocyte globulin;Methylprednisolone
20 A MULTICENTER, OPEN-LABEL, SINGLE-ARM STUDY TO ASSESS THE EFFICACY AND SAFETY OF PF-06462700 ADMINISTERED INTRAVENOUSLY AT 40 MG/KG/DAY FOR 4 DAYS IN JAPANESE PARTICIPANTS WITH MODERATE AND ABOVE APLASTIC ANEMIA Completed NCT04350606 Phase 3
21 Phase 2/3 Study of Romiplostim(AMG531) in Subjects With Aplastic Anemia Refractory to or Ineligible for Immunosuppressive Therapy Completed NCT02773290 Phase 2, Phase 3
22 A Prospective Randomized Multicenter Study Comparing Horse Antithymocyte Globuline (hATG) + Cyclosporine A (CsA) With or Without Eltrombopag as Front-line Therapy for Severe Aplastic Anemia Patients. Completed NCT02099747 Phase 3 hATG;CsA;Eltrombopag
23 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
24 Allogeneic Blood or Marrow Transplantation for Hematologic Malignancy and Aplastic Anemia Completed NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
25 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
26 A Phase 2/3 Study of AMG531 in Patients With Aplastic Anemia PreviouslyUntreated With Immunosuppressive Therapy Completed NCT03957694 Phase 2, Phase 3 Romiplostim
27 Randomized Comparison of Cyclophosphamide Versus Cyclophosphamide Plus Fludarabine In Addition To Anti-Thymocyte Globulin for the Conditioning Therapy in Allogeneic Hematopoietic Cell Transplantation for Bone Marrow Failure Syndrome Completed NCT00774527 Phase 3 Cyclophosphamide-fludarabine-anti thymocyte globulin
28 Bone Marrow Transplantation for Non-Malignant Congenital Bone Marrow Failure Disorders Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
29 A Phase III Multicenter Randomized Study of Hetrombopag or Placebo in Treatment-Naive Severe Aplastic Anemia Recruiting NCT03825744 Phase 3 Hetrombopag Olamine+Standard Therapy;Placebo+Standard Therapy
30 Efficacy and Safety of Thrombopoetin-Receptor Agonist Eltrombopag in in Combination With Ciclosporin A in Moderate Aplastic Anemia (EMAA): Prospective Randomized Multicenter Study Recruiting NCT02773225 Phase 2, Phase 3 Eltrombopag;Placebo (for Eltrombopag)
31 A Phase II Multicenter Randomized Study of Eltrombopag Combined With Cyclosporine and hATG Versus hATG and CsA as First Line Treatment in Pediatric Patients With Severe Acquired Aplastic Anemia Recruiting NCT03413306 Phase 3 Eltrombopag;IST (ATG + CsA)
32 Extension Study of Hetrombopag Olamine in Patients With Treatment-naive Severe Aplastic Anemia Recruiting NCT04961710 Phase 3 Hetrombopag Olamine;Placebo
33 A Phase III Randomized Trial Comparing Unrelated Donor Bone Marrow Transplantation With Immune Suppressive Therapy for Newly Diagnosed Pediatric and Young Adult Patients With Severe Aplastic Anemia (TransIT, BMT CTN 2202) Not yet recruiting NCT05600426 Phase 3 cyclosporine;horse anti-thymocyte globulin (ATG);rabbit anti-thymocyte globulin (ATG);Methotrexate;Fludarabine;Cyclophosphamide
34 Efficacy and Safety of Avatrombopag in Non-severe Aplastic Anemia - a Multicenter Prospective Single Arm Study Not yet recruiting NCT04728789 Phase 2, Phase 3 Avatrombopag 20 MG
35 Efficacy and Safety of Hetrombopag in Non-severe Aplastic Anemia: a Prospective Single Arm Study Not yet recruiting NCT05018936 Phase 2, Phase 3 Hetrombopag
36 A RANDOMIZED CONTROLLED STUDY IN NEWLY DIAGNOSED SEVERE APLASTIC ANEMIA PATIENTS RECEIVING ANTITHYMOCYTE GLOBULIN (ATG), CYCLOSPORIN A, WITH OR WITHOUT G-CSF Terminated NCT01163942 Phase 3 G-CSF;Early retreatment with ATG
37 A Randomized Controlled Crossover Trial of Two Different Central Venous Catheter Flushing Schemes in Pediatric Hematology and Oncology Patients in Alberta, Canada Terminated NCT01343680 Phase 3 Heparin;Normal saline
38 Fludarabine, Cyclophosphamide Plus Thymoglobulin Conditioning Regimen for Unrelated Bone Marrow (or Mobilized Peripheral Blood) Transplantation in Severe Aplastic Anemia Unknown status NCT00737685 Phase 2 cyclophosphamide, fludarabine , thymoglobulin
39 PhaseⅡTrial of Co-transplantation With Bone Marrow Derived Mesenchymal Stem Cells From Related Donors in Alternative Donor Transplantation of Severe Aplastic Anemia. Unknown status NCT02247973 Phase 2
40 Open Label, Phase II Study Investigating the Efficacy of Posaconazole as Prophylaxis Antifungal Agent in Aplastic Anemia / Hypoplastic Myelodysplastic Syndrome Patients Undergoing Antithymocyte Globulin Treatment Unknown status NCT03318159 Phase 2 Posaconazole
41 Phase I/II Study of An Ex Vivo Immunotherapy for Treatment of Idiopathic Aplastic Anemia Unknown status NCT00399971 Phase 1, Phase 2 Ex vivo immunotherapy
42 Phase I/II Study of Fludarabine, Cyclophosphamide Plus TBI Conditioning Regimen for Double Units Cord Blood Transplantation in Severe Aplastic Anemia Unknown status NCT00881933 Phase 1, Phase 2
43 Reduced Toxicity Fludarabine, Cyclophosphamide Plus Thymoglobulin Conditioning Regimen for Unrelated Donor Transplantation in Severe Aplastic Anemia Unknown status NCT00882323 Phase 2 Cyclophosphamide, Fludarabine, Thymoglobulin
44 A Phase I/II Trial of Sirolimus (Rapamune) and Cyclosporine in Patients With Refractory Aplastic Anemia Unknown status NCT00319878 Phase 1, Phase 2 Sirolimus;Cyclosporine
45 Alemtuzumab and Low-Dose Cyclosporine-A as Alternative Immunosuppressive Treatment for Severe Aplastic Anemia (SAA) and Single-Lineage Aplastic Patients Unknown status NCT00895739 Phase 2 cyclosporine
46 A Multicenter, Randomized, Controlled Study of the Efficacy and Safety of the Combination of Adipose Tissue-derived Hematopoietic Stem Cells (AD-HSCs) and ATG in the Treatment of Severe Aplastic Anemia Unknown status NCT02407470 Phase 1, Phase 2 Rabbit antithymoglobulin (ATG)
47 A Novel TBI Free Conditioning Protocol for Haploidentical Hematopoeitic Stem Cell Transplant in Acquired Aplastic Anemia Unknown status NCT03955601 Phase 2 Haploidentical HSCT using TBI free regimen, ''ATG'' with ''Post transplant cyclophosphamide''
48 Efficacy and Safety of Thrombopoietin In Patients With Severe and Very Severe Aplastic Anemia Unknown status NCT02857530 Phase 2 rhTPO;placebo
49 PhaseⅠ/ⅡTrial of Bone Marrow Derived Mesenchymal Stem Cell Transplantation From Related Donor to Patients With Relapsed/Refractory Aplastic Anemia. Unknown status NCT01305694 Phase 1, Phase 2
50 Haploidentical Stem Cell Transplantation With Fixed Dose of T Cells After in Vitro T Cell Depletion Using CD3 Monoclonal Antibody for Children With Acquired Severe Aplastic Anemia Unknown status NCT01759732 Phase 2 Fludarabine;Cyclophosphamide

Search NIH Clinical Center for Aplastic Anemia

Cell-based therapeutics:


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

Cochrane evidence based reviews: anemia, aplastic

Genetic Tests for Aplastic Anemia

Genetic tests related to Aplastic Anemia:

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

Anatomical Context for Aplastic Anemia

Organs/tissues related to Aplastic Anemia:

MalaCards : Bone Marrow, Bone, Myeloid, Heart, Lung, T Cells, Placenta
ODiseA: Blood And Bone Marrow

Publications for Aplastic Anemia

Articles related to Aplastic Anemia:

(show top 50) (show all 16294)
# Title Authors PMID Year
1
Mutations in the SBDS gene in acquired aplastic anemia. 53 62 57 5
17478638 2007
2
First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability. 53 62 57 5
15338273 2004
3
Perforin gene mutations in patients with acquired aplastic anemia. 62 57 5
17311987 2007
4
Homozygosis for (12) CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population. 53 57 5
15327519 2004
5
Molecular mechanisms underlying the role of HLA-DQ in systemic immune activation in severe aplastic anemia. 62 41
36334505 2023
6
Cytokines help suggest aplastic anemia with pulmonary bacterial or co-fungal infection. 62 41
36319826 2022
7
Long-term effects of hematopoietic growth factors in aplastic anemia patients treated with immunosuppression: Meta-analysis of randomized controlled trials. 62 41
36281138 2022
8
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. 5
27577878 2017
9
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. 5
24916509 2014
10
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients. 5
23592409 2013
11
Functional impact of A91V mutation of the PRF1 perforin gene. 5
23073290 2013
12
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. 5
21881043 2011
13
Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging. 5
21959744 2011
14
Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. 5
21695142 2011
15
Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer. 5
19487666 2009
16
The Shwachman-Diamond SBDS protein localizes to the nucleolus. 5
15860664 2005
17
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. 5
15769891 2005
18
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. 5
15755897 2005
19
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 5
14749921 2004
20
Mutations in SBDS are associated with Shwachman-Diamond syndrome. 5
12496757 2003
21
Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients. 5
12192641 2002
22
Association between aplastic anaemia and mutations in telomerase RNA. 57
12090986 2002
23
Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members. 5
11756153 2002
24
Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). 5
11325820 2001
25
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 5
11179007 2001
26
Perioperative management for a patient with chronic pancytopenia: a case of aplastic anemia with persistent neutropenia following preoperative administration of G-CSF. 53 62
20094735 2010
27
Mechanisms of adverse drug reactions to biologics. 53 62
20020272 2010
28
Downregulation of GATA-2 and overexpression of adipogenic gene-PPARgamma in mesenchymal stem cells from patients with aplastic anemia. 53 62
19772889 2009
29
Changes in cytokine profile pre- and post-immunosuppression in acquired aplastic anemia. 53 62
19586939 2009
30
[Detection of putative T cell clones using T cell receptor beta chain gene clonality assay in Korean patients with aplastic anemia]. 53 62
19726886 2009
31
Phase II study of rabbit anti-thymocyte globulin, cyclosporine and granulocyte colony-stimulating factor in patients with aplastic anemia and myelodysplastic syndrome. 53 62
19242494 2009
32
Hematopoietic growth factors in aplastic anemia patients treated with immunosuppressive therapy-systematic review and meta-analysis. 53 62
19336743 2009
33
NOLA1 gene mutations in acquired aplastic anemia. 53 62
18989882 2009
34
Lymphocytes with aberrant expression of Fas or Fas ligand attenuate immune bone marrow failure in a mouse model. 53 62
19265119 2009
35
Comparison on in vitro characterization of fucospheres and chitosan microspheres encapsulated plasmid DNA (pGM-CSF): formulation design and release characteristics. 53 62
19859814 2009
36
Transient severe pancytopenia due to elevated tumor necrosis factor-alpha in overwhelming infection. 53 62
19293548 2009
37
Prospective trial of mycophenolate mofetil-cyclosporine A prophylaxis for acute GVHD after G-CSF stimulated allogeneic bone marrow transplantation with HLA-identical sibling donors in patients with severe aplastic anemia and hematological malignancies. 53 62
18727660 2009
38
Acquired aplastic anemia: correlation between etiology, pathophysiology, bone marrow histology and prognosis factors. 53 62
19942964 2009
39
Anti-moesin antibodies in the serum of patients with aplastic anemia stimulate peripheral blood mononuclear cells to secrete TNF-alpha and IFN-gamma. 53 62
19109204 2009
40
Transfusion-related acute lung injury (TRALI) induced by donor-derived anti-HLA antibodies in aplastic anemia: possible priming effect of granulocyte-colony stimulating factor (G-CSF) on the recipient neutrophils. 53 62
19915300 2009
41
[Expression of hematopoietic cytokines EPO, SCF and GM-CSF in bone marrow cells of patients with chronic aplastic anemia]. 53 62
18928604 2008
42
Disease-associated human telomerase RNA variants show loss of function for telomere synthesis without dominant-negative interference. 53 62
18710936 2008
43
Telomere maintenance and human bone marrow failure. 53 62
18239083 2008
44
Aplastic anemia. 53 62
18391779 2008
45
[Single nucleotide polymorphism of interferon-gamma gene +874 T/A in patients with aplastic anemia]. 53 62
18426658 2008
46
[Paroxysmal nocturnal hemoglobinuria (PNH)]. 53 62
18330025 2008
47
[Immune pathophysiology of refractory anemias]. 53 62
18326316 2008
48
[The polymorphism of interferon gamma gene CA short tandem repeat is associated with aplastic anemia]. 53 62
18390192 2008
49
[Clinical implications of combined measurement bone marrow T cells intracellular IFNgamma and HLA-DRB1*1501 measurement in predicting the response to immunosuppressive therapy for aplastic anemia]. 53 62
18218241 2007
50
Treatment of acquired severe aplastic anemia with antilymphocyte globulin, cyclosporin A, methyprednisolone, and granulocyte colony-stimulating factor. 53 62
17506070 2007

Variations for Aplastic Anemia

ClinVar genetic disease variations for Aplastic Anemia:

5 (show top 50) (show all 165)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TERC NR_001566.1(TERC):n.117A>C SNV Pathogenic
39281 rs199422273 GRCh37: 3:169482732-169482732
GRCh38: 3:169764944-169764944
2 TERC NR_001566.1(TERC):n.178G>A SNV Pathogenic
39283 rs199422275 GRCh37: 3:169482671-169482671
GRCh38: 3:169764883-169764883
3 TERC NR_001566.1(TERC):n.180C>T SNV Pathogenic
39284 rs199422276 GRCh37: 3:169482669-169482669
GRCh38: 3:169764881-169764881
4 LOC110806306, TERC NR_001566.1(TERC):n.28_34del DEL Pathogenic
39287 rs199422259 GRCh37: 3:169482815-169482821
GRCh38: 3:169765027-169765033
5 TERC NR_001566.1(TERC):n.305G>A SNV Pathogenic
39289 rs199422279 GRCh37: 3:169482544-169482544
GRCh38: 3:169764756-169764756
6 TERC NR_001566.1(TERC):n.322G>A SNV Pathogenic
39290 rs199422280 GRCh37: 3:169482527-169482527
GRCh38: 3:169764739-169764739
7 TERC NR_001566.1(TERC):n.323C>T SNV Pathogenic
39291 rs199422281 GRCh37: 3:169482526-169482526
GRCh38: 3:169764738-169764738
8 TERC NR_001566.1(TERC):n.391_392del DEL Pathogenic
39294 rs199422283 GRCh37: 3:169482457-169482458
GRCh38: 3:169764669-169764670
9 TERC NR_001566.1(TERC):n.72C>G SNV Pathogenic
7324 rs199422265 GRCh37: 3:169482777-169482777
GRCh38: 3:169764989-169764989
10 PRF1 NM_001083116.3(PRF1):c.1163G>T (p.Ser388Ile) SNV Pathogenic
13719 rs193302875 GRCh37: 10:72358314-72358314
GRCh38: 10:70598558-70598558
11 PRF1 NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) SNV Pathogenic
520942 rs147462227 GRCh37: 10:72360214-72360214
GRCh38: 10:70600458-70600458
12 TERC NR_001566.1(TERC):n.110_113del DEL Pathogenic
7325 rs199422270 GRCh37: 3:169482736-169482739
GRCh38: 3:169764948-169764951
13 TERC NR_001566.1(TERC):n.450G>A SNV Pathogenic
39296 rs199422287 GRCh37: 3:169482399-169482399
GRCh38: 3:169764611-169764611
14 PRF1 NM_001083116.3(PRF1):c.148G>A (p.Val50Met) SNV Pathogenic
802584 rs776299562 GRCh37: 10:72360511-72360511
GRCh38: 10:70600755-70600755
15 NBN NM_002485.5(NBN):c.511A>G (p.Ile171Val) SNV Pathogenic
6946 rs61754966 GRCh37: 8:90990521-90990521
GRCh38: 8:89978293-89978293
16 PRF1 NM_001083116.3(PRF1):c.11G>A (p.Arg4His) SNV Pathogenic
13720 rs35418374 GRCh37: 10:72360648-72360648
GRCh38: 10:70600892-70600892
17 LOC110806306, TERC NR_001566.1(TERC):n.58G>A SNV Pathogenic
7323 rs113487931 GRCh37: 3:169482791-169482791
GRCh38: 3:169765003-169765003
18 DIPK1A, RPL5 NM_000969.5(RPL5):c.74-1G>C SNV Pathogenic
523383 rs1553284997 GRCh37: 1:93299101-93299101
GRCh38: 1:92833544-92833544
19 SBDS NM_016038.4(SBDS):c.258+2T>C SNV Pathogenic
Pathogenic
Risk Factor
3196 rs113993993 GRCh37: 7:66459197-66459197
GRCh38: 7:66994210-66994210
20 NBN NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) SNV Pathogenic
142559 rs587782545 GRCh37: 8:90960063-90960063
GRCh38: 8:89947835-89947835
21 NBN NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) SNV Pathogenic
190229 rs767215758 GRCh37: 8:90971047-90971047
GRCh38: 8:89958819-89958819
22 SBDS NM_016038.4(SBDS):c.258+1G>C SNV Pathogenic
21538 rs113993992 GRCh37: 7:66459198-66459198
GRCh38: 7:66994211-66994211
23 NBN NM_002485.5(NBN):c.897-2A>T SNV Likely Pathogenic
219440 rs864622090 GRCh37: 8:90976737-90976737
GRCh38: 8:89964509-89964509
24 NBN NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) SNV Likely Pathogenic
182737 rs730881864 GRCh37: 8:90955525-90955525
GRCh38: 8:89943297-89943297
25 IFNG NM_000619.2(IFNG):c.115-484_115-457CA[12] MICROSAT Risk Factor
14722 rs34079299 GRCh37: 12:68552495-68552498
GRCh38: 12:68158715-68158718
26 IFNG NM_000619.3(IFNG):c.114+11C>T SNV Uncertain Significance
310324 rs200610212 GRCh37: 12:68553271-68553271
GRCh38: 12:68159491-68159491
27 IFNG NM_000619.3(IFNG):c.-9T>C SNV Uncertain Significance
310327 rs886049803 GRCh37: 12:68553404-68553404
GRCh38: 12:68159624-68159624
28 TERT NM_198253.3(TERT):c.*104C>T SNV Uncertain Significance
350514 rs886059830 GRCh37: 5:1253739-1253739
GRCh38: 5:1253624-1253624
29 IFNG NM_000619.3(IFNG):c.*9C>T SNV Uncertain Significance
310323 rs886049801 GRCh37: 12:68549124-68549124
GRCh38: 12:68155344-68155344
30 IFNG NM_000619.3(IFNG):c.-5A>G SNV Uncertain Significance
310326 rs181407537 GRCh37: 12:68553400-68553400
GRCh38: 12:68159620-68159620
31 TERT NM_198253.3(TERT):c.*230T>C SNV Uncertain Significance
350512 rs751808151 GRCh37: 5:1253613-1253613
GRCh38: 5:1253498-1253498
32 IFNG NM_000619.3(IFNG):c.*107A>G SNV Uncertain Significance
310322 rs886049800 GRCh37: 12:68549026-68549026
GRCh38: 12:68155246-68155246
33 IFNG NM_000619.3(IFNG):c.-34T>G SNV Uncertain Significance
310328 rs752463155 GRCh37: 12:68553429-68553429
GRCh38: 12:68159649-68159649
34 IFNG NM_000619.3(IFNG):c.*231T>C SNV Uncertain Significance
881746 rs1413472447 GRCh37: 12:68548902-68548902
GRCh38: 12:68155122-68155122
35 IFNG NM_000619.3(IFNG):c.*187T>G SNV Uncertain Significance
881747 rs1213374453 GRCh37: 12:68548946-68548946
GRCh38: 12:68155166-68155166
36 IFNG NM_000619.3(IFNG):c.*22T>A SNV Uncertain Significance
881748 rs1882583669 GRCh37: 12:68549111-68549111
GRCh38: 12:68155331-68155331
37 IFNG NM_000619.3(IFNG):c.431C>T (p.Ser144Leu) SNV Uncertain Significance
881749 rs753611452 GRCh37: 12:68549203-68549203
GRCh38: 12:68155423-68155423
38 IFNG NM_000619.3(IFNG):c.285C>T (p.Thr95=) SNV Uncertain Significance
881750 rs142375196 GRCh37: 12:68551774-68551774
GRCh38: 12:68157994-68157994
39 IFNG NM_000619.3(IFNG):c.183+15C>G SNV Uncertain Significance
882897 rs199708992 GRCh37: 12:68551956-68551956
GRCh38: 12:68158176-68158176
40 TERT NM_198253.3(TERT):c.*308A>G SNV Uncertain Significance
904608 rs1747469600 GRCh37: 5:1253535-1253535
GRCh38: 5:1253420-1253420
41 TERT NM_198253.3(TERT):c.*237C>T SNV Uncertain Significance
904609 rs567092780 GRCh37: 5:1253606-1253606
GRCh38: 5:1253491-1253491
42 TERT NM_198253.3(TERT):c.*83G>A SNV Uncertain Significance
905913 rs533940688 GRCh37: 5:1253760-1253760
GRCh38: 5:1253645-1253645
43 TERT NM_198253.3(TERT):c.3101G>A (p.Arg1034His) SNV Uncertain Significance
905979 rs62331332 GRCh37: 5:1255458-1255458
GRCh38: 5:1255343-1255343
44 TERT NM_198253.3(TERT):c.2003A>C (p.Glu668Ala) SNV Uncertain Significance
906295 rs1749859084 GRCh37: 5:1279533-1279533
GRCh38: 5:1279418-1279418
45 TERT NM_198253.3(TERT):c.696G>T (p.Leu232=) SNV Uncertain Significance
906429 rs1033402019 GRCh37: 5:1294305-1294305
GRCh38: 5:1294190-1294190
46 TERT NM_198253.3(TERT):c.*339T>C SNV Uncertain Significance
904607 rs920370048 GRCh37: 5:1253504-1253504
GRCh38: 5:1253389-1253389
47 TERT NM_198253.3(TERT):c.*64G>A SNV Uncertain Significance
905914 rs1327773385 GRCh37: 5:1253779-1253779
GRCh38: 5:1253664-1253664
48 DDX41 NM_016222.4(DDX41):c.253G>T (p.Val85Phe) SNV Uncertain Significance
978207 rs773991873 GRCh37: 5:176943334-176943334
GRCh38: 5:177516333-177516333
49 SBDS NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) SNV Uncertain Significance
418467 rs774976459 GRCh37: 7:66456225-66456225
GRCh38: 7:66991238-66991238
50 SBDS NM_016038.4(SBDS):c.173T>C (p.Val58Ala) SNV Uncertain Significance
1675126 GRCh37: 7:66459284-66459284
GRCh38: 7:66994297-66994297

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

73
# 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

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.2 TINF2 THPO TERT IL3 IFNG EPO
2
Show member pathways
12.12 TINF2 TERT NOP10 NHP2 DKC1
3
Show member pathways
11.98 DKC1 NHP2 NOP10 TERT TINF2
4 11.78 THPO TERT IL3
5
Show member pathways
11.72 TERT PRF1 IFNG
6 11.48 TERT NBN DKC1
7 11.19 TINF2 TERT NBN IFNG DKC1
8 11.16 THPO IL3 IFNG EPO CSF3 CD59
9 11.01 IL3 IFNG CSF3
10
Show member pathways
10.93 TINF2 TERT NBN

GO Terms for Aplastic Anemia

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

# Name GO ID Score Top Affiliating Genes
1 chromosome, telomeric region GO:0000781 10.02 NBN NHP2 TERC TERT TINF2
2 ribonucleoprotein complex GO:1990904 9.91 TERT RPL5 NOP10 NHP2 DKC1
3 Cajal body GO:0015030 9.8 TERC NOP10 NHP2 DKC1
4 nuclear telomere cap complex GO:0000783 9.78 TINF2 TERT
5 sno(s)RNA-containing ribonucleoprotein complex GO:0005732 9.76 NOP10 NHP2
6 box H/ACA snoRNP complex GO:0031429 9.73 NOP10 NHP2 DKC1
7 telomerase catalytic core complex GO:0000333 9.67 TERT TERC
8 telomerase holoenzyme complex GO:0005697 9.65 TERT TERC NOP10 NHP2 DKC1
9 box H/ACA scaRNP complex GO:0072589 9.63 NOP10 NHP2 DKC1
10 box H/ACA telomerase RNP complex GO:0090661 9.23 TERC NOP10 NHP2 DKC1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.93 IL3 IFNG EPO
2 rRNA processing GO:0006364 9.86 DKC1 NHP2 NOP10 RPL5 SBDS
3 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.8 NOP10 NHP2 DKC1
4 positive regulation of killing of cells of another organism GO:0051712 9.71 PRF1 IFNG
5 ribosome biogenesis GO:0042254 9.67 SBDS NOP10 NHP2 DKC1
6 snRNA pseudouridine synthesis GO:0031120 9.63 NOP10 NHP2 DKC1
7 pseudouridine synthesis GO:0001522 9.61 NOP10 DKC1
8 rRNA pseudouridine synthesis GO:0031118 9.43 NOP10 NHP2 DKC1
9 telomere maintenance via telomerase GO:0007004 9.32 TERT TERC NOP10 NHP2 DKC1

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 10.02 THPO IL3 IFNG EPO CSF3
2 RNA-directed DNA polymerase activity GO:0003964 9.67 TERT TERC
3 telomerase activity GO:0003720 9.63 TERT TERC DKC1
4 telomerase RNA reverse transcriptase activity GO:0003721 9.56 TERT TERC
5 box H/ACA snoRNA binding GO:0034513 9.43 NOP10 NHP2 DKC1
6 telomerase RNA binding GO:0070034 9.23 TERT NOP10 NHP2 DKC1

Sources for Aplastic Anemia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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