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 56 12 74 52 58 73 36 29 13 6 42 15 37 62 71
Aplastic Anemia, Susceptibility to 56 6
Idiopathic Aplastic Anemia 52 58
Secondary Aplastic Anemia 52 71
Anemia Aplastic 52 54
Idiopathic Bone Marrow Failure 58
Aplastic Anemia, Idiopathic 71
Aplastic Anemia Idiopathic 52
Anemia, Aplastic 43
Aa 73

Characteristics:

Orphanet epidemiological data:

58
idiopathic aplastic anemia
Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:12449
OMIM 56 609135
KEGG 36 H01132
ICD9CM 34 284.9
MeSH 43 D000741
NCIt 49 C2870
SNOMED-CT 67 306058006
MESH via Orphanet 44 C538494
ICD10 via Orphanet 33 D61.0 D61.1 D61.2 more
UMLS via Orphanet 72 C0348890
UMLS 71 C0002874 C0271908 C0348890

Summaries for Aplastic Anemia

NIH Rare Diseases : 52 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. [5 ] 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. [5 ] 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. [6 ] 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. [5 ] Provide supportive care in these patients, maintain the platelet count above 20 ? 109 /L, if possible, and consider administering cyclosporine. [5 ] 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. [5 ] 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 dyskeratosis congenita and paroxysmal nocturnal hemoglobinuria, and has symptoms including edema, chest pain and angina pectoris. 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 Radium Ra 223 dichloride have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and t cells, and related phenotypes are anemia and aplastic anemia

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 : 56 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 : 42 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

KEGG : 36 Aplastic anemia (AA) is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. Most cases of acquired aplastic anemia are the consequence of an immune-mediated destruction of hematopoiesis. Autoreactive cytotoxic T cells play a key role in the pathogenesis of AA by myelosuppressive cytokines including interferon-gamma. It has been reported that polymorphisms in IFNG are related to AA. A minority of patients with AA has heterozygous mutations in genes encoding the telomerase components TERT or TERC. Immunosuppressive therapy (IST) is one of the main treatment modalities for AA, although most patients with telomerase mutations do not respond adequately to IST.

UniProtKB/Swiss-Prot : 73 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 : 62 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 : 74 Aplastic anemia is an autoimmune disease in which the body fails to produce blood cells in sufficient... 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 1026)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita 34.4 TINF2 TERT TERC SBDS RPL5 NOP10
2 paroxysmal nocturnal hemoglobinuria 34.1 PIGA CSF3 CD55
3 hoyeraal hreidarsson syndrome 34.0 TINF2 TERT TERC DKC1
4 shwachman-diamond syndrome 1 34.0 TINF2 TERC SBDS RPL5 NOP10 NHP2
5 fanconi anemia, complementation group a 33.9 THPO TERC NBN KITLG IL3 DKC1
6 revesz syndrome 33.9 TINF2 TERT TERC NOP10 NHP2 DKC1
7 amegakaryocytic thrombocytopenia, congenital 33.8 THPO SBDS IL3 DKC1
8 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 33.7 IL3 EPO CSF3
9 myelodysplastic syndrome 33.4 THPO TERT TERC SBDS PRF1 PIGA
10 pancytopenia 33.4 THPO TERT PRF1 NBN IL3 IFNG
11 dyskeratosis congenita, autosomal recessive 1 33.3 TERT NOP10 NHP2
12 hemoglobinuria 32.9 THPO PIGA EPO CSF3 CD55
13 thrombocytopenia 32.9 THPO TERT SBDS PRF1 KITLG IL3
14 neutropenia 32.8 THPO SBDS KITLG IL3 IFNG EPO
15 acute leukemia 32.8 THPO KITLG IL3 EPO CSF3 CSF2
16 leukemia, acute myeloid 32.8 THPO TERT PRF1 KITLG IL3 IFNG
17 granulocytopenia 32.5 IL3 CSF3 CSF2
18 hemolytic anemia 32.4 PIGA IL3 IFNG EPO CSF3 CD55
19 refractory anemia 32.3 IL3 EPO CSF3
20 diamond-blackfan anemia 32.2 TINF2 THPO TERT TERC SBDS RPL5
21 leukemia, acute lymphoblastic 32.2 THPO NBN KITLG IL3 CSF3 CSF2
22 exanthem 32.0 IFNG CSF3 CSF2
23 leukemia, chronic myeloid 32.0 THPO KITLG IL3 EPO CSF3 CSF2
24 inherited bone marrow failure syndromes 31.9 TERT TERC SBDS
25 bacterial infectious disease 31.9 IL3 IFNG CSF3 CSF2
26 mucormycosis 31.9 IFNG CSF3 CSF2
27 myeloma, multiple 31.9 PRF1 IL3 IFNG EPO CSF3 CSF2
28 aspergillosis 31.8 IFNG CSF3 CSF2
29 acute promyelocytic leukemia 31.8 THPO TERT KITLG IL3 CSF3 CSF2
30 polycythemia 31.7 THPO KITLG IL3 EPO
31 myelofibrosis 31.7 THPO IL3 EPO CSF3
32 severe combined immunodeficiency 31.7 KITLG IL3 IFNG DKC1 CSF3 CSF2
33 polycythemia vera 31.6 THPO KITLG IL3 EPO CSF3 CSF2
34 hypersplenism 31.6 THPO IFNG EPO CSF3 CSF2
35 red cell aplasia 31.6 KITLG EPO
36 allergic hypersensitivity disease 31.6 KITLG IL3 IFNG CSF2
37 dyskeratosis congenita, autosomal dominant 1 31.6 TINF2 TERT TERC DKC1
38 large granular lymphocyte leukemia 31.6 CSF3 CSF2
39 lymphoma, non-hodgkin, familial 31.5 PRF1 NBN KITLG IL3 CSF3 CSF2
40 miliary tuberculosis 31.5 IFNG EPO CSF3
41 myeloproliferative neoplasm 31.5 THPO KITLG IL3 EPO CSF3 CSF2
42 macrocytic anemia 31.5 TERT RPL5 KITLG
43 castleman disease 31.5 IFNG CSF3 CSF2
44 diarrhea 31.4 IL3 IFNG CSF3 CD55
45 severe congenital neutropenia 31.4 KITLG IL3 CSF3 CSF2
46 pulmonary fibrosis, idiopathic 31.4 TINF2 TERT TERC NOP10 NHP2 IFNG
47 transient erythroblastopenia of childhood 31.4 KITLG EPO
48 dyskeratosis congenita, x-linked 31.3 TINF2 TERT TERC RPL5 NOP10 NHP2
49 fungal infectious disease 31.3 IFNG CSF3 CSF2
50 essential thrombocythemia 31.3 THPO TERT IL3 EPO CSF3 CSF2

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 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 58 31 obligate (100%) Obligate (100%) HP:0001903
2 aplastic anemia 31 obligate (100%) HP:0001915
3 bone marrow hypocellularity 58 31 hallmark (90%) Very frequent (99-80%) HP:0005528
4 pancytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001876
5 reticulocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001896
6 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
7 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
8 epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000421
9 neutropenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001875
10 retinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0000573
11 recurrent infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002719
12 ecchymosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0031364
13 autoimmune antibody positivity 58 Excluded (0%)

Clinical features from OMIM:

609135

UMLS symptoms related to Aplastic Anemia:


edema, chest pain, angina pectoris

MGI Mouse Phenotypes related to Aplastic Anemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.24 CD55 CSF2 CSF3 DKC1 EPO IFNG
2 cellular MP:0005384 10.17 CSF2 DKC1 EPO IFNG KITLG NBN
3 immune system MP:0005387 10.17 CD55 CSF2 CSF3 DKC1 EPO IFNG
4 endocrine/exocrine gland MP:0005379 10.06 CSF2 DKC1 IFNG KITLG NBN PRF1
5 mortality/aging MP:0010768 10.03 CD55 CSF2 DKC1 EPO IFNG KITLG
6 integument MP:0010771 9.91 CSF2 CSF3 DKC1 EPO IFNG KITLG
7 neoplasm MP:0002006 9.56 CSF2 DKC1 IFNG KITLG NBN PIGA
8 reproductive system MP:0005389 9.28 CSF2 DKC1 IFNG KITLG NBN PIGA

Drugs & Therapeutics for Aplastic Anemia

PubMed Health treatment related to Aplastic Anemia: 62

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 163)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 4 135968-09-1
2
Radium Ra 223 dichloride Approved, Investigational Phase 4 444811-40-9
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Sodium citrate Approved, Investigational Phase 4 68-04-2
6
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
7
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
8
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
9
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
10
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
11
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
12
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
13 Gastrointestinal Agents Phase 4
14 Hormones Phase 4
15 Hormone Antagonists Phase 4
16 glucocorticoids Phase 4
17 Anti-Inflammatory Agents Phase 4
18 Antineoplastic Agents, Hormonal Phase 4
19 Citrate Phase 4
20 Trace Elements Phase 4
21 Ergocalciferols Phase 4
22 Vitamins Phase 4
23 Hydroxycholecalciferols Phase 4
24 Nutrients Phase 4
25 Micronutrients Phase 4
26 Calciferol Phase 4
27 Vitamin D2 Phase 4
28 Chelating Agents Phase 4
29 Iron Chelating Agents Phase 4
30
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
31
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
32
Sargramostim Approved, Investigational Phase 3 83869-56-1, 123774-72-1
33
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
34
Nandrolone decanoate Approved, Illicit Phase 3 360-70-3 9677
35
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 3 62-90-8 229455
36
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904 498142
37
Iodine Approved, Investigational Phase 3 7553-56-2 807
38
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
39
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 21704 32326
40
tannic acid Approved Phase 3 1401-55-4
41
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
42
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
43
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
44
Tretinoin Approved, Investigational, Nutraceutical Phase 2, Phase 3 302-79-4 444795 5538
45
Nandrolone Experimental, Investigational Phase 3 434-22-0 9904
46 Hypoglycemic Agents Phase 3
47 Anabolic Agents Phase 3
48 Immunoglobulin G Phase 3
49 Antilymphocyte Serum Phase 3
50 Antimetabolites Phase 3

Interventional clinical trials:

(show top 50) (show all 335)
# 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 With 2.5 or 3.75mg/kg to Treat Child Severe Aplastic Anemia Unknown status NCT01997372 Phase 4 ATG
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 A Single Arm, Multicenter, Open Label Study of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia Completed NCT01546415 Phase 4 Desferasirox
6 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
7 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
8 Randomized Clinical Trial of the Use of Eltrombopag in Children With Idiopathic Aplastic Anemia Recruiting NCT03243656 Phase 4 Eltrombopag
9 The Efficacy of Immunosuppressive Therapy Combined With Cord Blood Transfusion in Treatment of Severe Aplastic Anemia Recruiting NCT02745717 Phase 4 Thymoglobulin;Cyclosporine Oral Product
10 Treatment With Thrombopoietin Mimetic Plus Immunosuppressive Therapy in Egyptian Patients With Aplastic Anaemia Recruiting NCT03896971 Phase 4 Combination of thrombopoietin mimetic and cyclosporin A
11 A Phase 4 Long-term Follow-up Study to Define the Safety Profile of Radium-223 Dichloride Recruiting NCT02312960 Phase 4
12 Collection of Granulocytes by Apheresis of Healthy Donors Stimulated With Filgrastim (G-CSF) and Dexamethasone Recruiting NCT01553214 Phase 4 Filgrastim;Dexamethasone
13 Effect of Auryxia on ESA Utilization in ESRD Patients With High Ferritin & Low Transferrin Saturation: A Pilot Project Active, not recruiting NCT03055598 Phase 4 Ferric Citrate
14 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 Enrolling by invitation NCT03176849 Phase 4
15 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
16 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
17 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
18 A Decisional Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Naive to Iron Chelation Therapy. A Comparative Randomized Prospective Study Unknown status NCT02173951 Phase 2, Phase 3 Deferiprone
19 Prevention of Coronary Artery in STENT Restenosis With the Combined Use of Pioglitazone and Sirolimus-Eluting Coronary Stent Unknown status NCT00376870 Phase 3 Pioglitazone;Placebo
20 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
21 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
22 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
23 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
24 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
25 Antithymocyte Globulin (ATG) and Cyclosporine (CSA) to Treat Patients With Myelodysplastic Syndrome (MDS). A Randomized Trial Comparing ATG + CSA With Best Supportive Care Completed NCT00004208 Phase 3 ATG + CSA
26 A Prospective Randomized Study Comparing Rapamune and Tacrolimus vs. Cyclosporine and Methotrexate as Immune Prophylaxis in Allogeneic Hematopoietic Stem Cell Transplantation, Using HLA-A, -B, -DRβ1 Identical Related or Unrelated Donors. A Nordic Multicenter Study. Completed NCT00993343 Phase 3 Sirolimus/tacrolimus;cyclosporine/methotrexate
27 A Hemoglobin Stabilization and Transfusion Reduction Efficacy and Safety Clinical Investigation, Randomized, Multi-Center, Double-Blind, Placebo-Controlled, Using Eculizumab in Paroxysmal Nocturnal Hemoglobinuria Patients Completed NCT00098280 Phase 3 Eculizumab
28 High Dose Cyclophosphamide for Treatment of Systemic Sclerosis (Scleroderma) Completed NCT00501995 Phase 3 IV Cyclophosphamide
29 A Phase 2/3 Study of AMG531 Combined With Ciclosporin A in Patients With Aplastic Anemia Previously Untreated With Immunosuppressive Therapy Recruiting NCT04095936 Phase 2, Phase 3 Romiplostim
30 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
31 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)
32 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)
33 Randomized Multicenter Trial of Two Transfusion Strategies for Patient Receiving Chemotherapy for Acute Leukemia or Hematopoietic Stem Cells With Medico-economic Evaluation of Cost Minimization. Recruiting NCT02461264 Phase 3 Single red blood packed cells Transfusion;Two packed red blood cells Transfusion
34 Phase 2/3 Study of Romiplostim(AMG531) in Subjects With Aplastic Anemia Refractory to or Ineligible for Immunosuppressive Therapy Active, not recruiting NCT02773290 Phase 2, Phase 3
35 A Phase 2/3 Study of AMG531 in Patients With Aplastic Anemia PreviouslyUntreated With Immunosuppressive Therapy Active, not recruiting NCT03957694 Phase 2, Phase 3 Romiplostim
36 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. Active, not recruiting NCT02099747 Phase 3 hATG;CsA;Eltrombopag
37 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 Not yet recruiting NCT04350606 Phase 3
38 Outcome of Peripheral Blood Allogenic Stem Cell Transplantation Using Non-anti Thymocyte Globulin (ATG ) Conditioning Regimens in Severe Aplastic Anemia Patients Not yet recruiting NCT03295058 Phase 2, Phase 3 Non ATG Conditioning regimen;GVHD Prophylaxis;ATG conditioning regimen
39 Sirolimus Combined With All Trans Retinoic Acid for the Treatment of Auto-Immune Anemia Not yet recruiting NCT04324411 Phase 2, Phase 3 sirolimus and ATRA
40 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
41 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
42 A Randomized, Double-blind, Placebo-controlled, Phase III, Multi-centre Study of Eltrombopag or Placebo in Combination With Azacitidine in Subjects With IPSS Intermediate-1, Intermediate 2 and High-risk Myelodysplastic Syndromes (MDS) SUPPORT: A StUdy of eltromboPag in myelodysPlastic SyndrOmes Receiving azaciTidine Terminated NCT02158936 Phase 3 Eltrombopag;Azacitidine;Placebo;Placebo
43 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
44 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
45 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
46 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
47 Reduced Toxicity Fludarabine, Cyclophosphamide Plus Thymoglobulin Conditioning Regimen for Unrelated Donor Transplantation in Severe Aplastic Anemia Unknown status NCT00882323 Phase 2 Cyclophosphamide, Fludarabine, Thymoglobulin
48 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
49 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
50 A Single-Arm Phase 2 Study With Optimized Standard Protocol for Severe Aplastic Anemia Unknown status NCT02203396 Phase 2 rabbit ATG, Cyclosporine, Levamisole

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:

40
Bone, Bone Marrow, T Cells, Heart, Liver, Myeloid, Lung

Publications for Aplastic Anemia

Articles related to Aplastic Anemia:

(show top 50) (show all 8010)
# Title Authors PMID Year
1
Mutations in the SBDS gene in acquired aplastic anemia. 6 56 61 54
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. 61 54 56 6
15338273 2004
3
Perforin gene mutations in patients with acquired aplastic anemia. 6 56 61
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. 6 54 56
15327519 2004
5
Association between aplastic anaemia and mutations in telomerase RNA. 56 6
12090986 2002
6
Telomerase mutations in families with idiopathic pulmonary fibrosis. 6 54 61
17392301 2007
7
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. 6 54 61
15814878 2005
8
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. 6 54
14630445 2003
9
COVID-19-related acute necrotizing encephalopathy with brain stem involvement in a patient with aplastic anemia. 61 42
32457227 2020
10
Successful treatment with matched unrelated donor peripheral blood stem cell transplantation for very severe aplastic anemia in presence of active infections: A case report. 61 42
32243414 2020
11
Erratum: Parry EM, Alder JK, Qi X, Chen JJ-L, Armanios M. Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood. 2011;117(21):5607-5611. 6
31265491 2016
12
Pulmonary fibrosis, bone marrow failure, and telomerase mutation. 6
22512499 2012
13
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. 6
21483807 2011
14
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 6
19760749 2009
15
Short telomeres are a risk factor for idiopathic pulmonary fibrosis. 6
18753630 2008
16
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. 6
18042801 2008
17
Adult-onset pulmonary fibrosis caused by mutations in telomerase. 6
17460043 2007
18
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. 6
15769891 2005
19
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 6
14749921 2004
20
Mutations in SBDS are associated with Shwachman-Diamond syndrome. 6
12496757 2003
21
Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients. 6
12192641 2002
22
Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). 6
11325820 2001
23
Hepatitis-associated Aplastic Anaemia in Children. 42
32193885 2020
24
Perioperative management for a patient with chronic pancytopenia: a case of aplastic anemia with persistent neutropenia following preoperative administration of G-CSF. 54 61
20094735 2010
25
Mechanisms of adverse drug reactions to biologics. 61 54
20020272 2010
26
Changes in cytokine profile pre- and post-immunosuppression in acquired aplastic anemia. 61 54
19586939 2009
27
Downregulation of GATA-2 and overexpression of adipogenic gene-PPARgamma in mesenchymal stem cells from patients with aplastic anemia. 54 61
19772889 2009
28
[Detection of putative T cell clones using T cell receptor beta chain gene clonality assay in Korean patients with aplastic anemia]. 54 61
19726886 2009
29
Phase II study of rabbit anti-thymocyte globulin, cyclosporine and granulocyte colony-stimulating factor in patients with aplastic anemia and myelodysplastic syndrome. 61 54
19242494 2009
30
Hematopoietic growth factors in aplastic anemia patients treated with immunosuppressive therapy-systematic review and meta-analysis. 54 61
19336743 2009
31
NOLA1 gene mutations in acquired aplastic anemia. 61 54
18989882 2009
32
Lymphocytes with aberrant expression of Fas or Fas ligand attenuate immune bone marrow failure in a mouse model. 54 61
19265119 2009
33
Acquired aplastic anemia: correlation between etiology, pathophysiology, bone marrow histology and prognosis factors. 54 61
19942964 2009
34
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. 61 54
19915300 2009
35
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. 54 61
18727660 2009
36
Transient severe pancytopenia due to elevated tumor necrosis factor-alpha in overwhelming infection. 54 61
19293548 2009
37
Comparison on in vitro characterization of fucospheres and chitosan microspheres encapsulated plasmid DNA (pGM-CSF): formulation design and release characteristics. 54 61
19859814 2009
38
Anti-moesin antibodies in the serum of patients with aplastic anemia stimulate peripheral blood mononuclear cells to secrete TNF-alpha and IFN-gamma. 61 54
19109204 2009
39
Disease-associated human telomerase RNA variants show loss of function for telomere synthesis without dominant-negative interference. 61 54
18710936 2008
40
[Expression of hematopoietic cytokines EPO, SCF and GM-CSF in bone marrow cells of patients with chronic aplastic anemia]. 61 54
18928604 2008
41
Aplastic anemia. 61 54
18391779 2008
42
Telomere maintenance and human bone marrow failure. 54 61
18239083 2008
43
[Single nucleotide polymorphism of interferon-gamma gene +874 T/A in patients with aplastic anemia]. 61 54
18426658 2008
44
[Paroxysmal nocturnal hemoglobinuria (PNH)]. 61 54
18330025 2008
45
[Immune pathophysiology of refractory anemias]. 54 61
18326316 2008
46
[The polymorphism of interferon gamma gene CA short tandem repeat is associated with aplastic anemia]. 61 54
18390192 2008
47
[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]. 54 61
18218241 2007
48
Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation. 54 61
17663679 2007
49
Treatment of acquired severe aplastic anemia with antilymphocyte globulin, cyclosporin A, methyprednisolone, and granulocyte colony-stimulating factor. 61 54
17506070 2007
50
Treatment of severe aplastic anemia with antithymocyte globulin and cyclosporin A with or without G-CSF in adults: a multicenter randomized study in Japan. 54 61
17526862 2007

Variations for Aplastic Anemia

ClinVar genetic disease variations for Aplastic Anemia:

6 (show top 50) (show all 145) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPL5 NM_000969.5(RPL5):c.74-1G>CSNV Pathogenic 523383 rs1553284997 1:93299101-93299101 1:92833544-92833544
2 TERC NR_001566.1(TERC):n.72C>GSNV Pathogenic 7324 rs199422265 3:169482777-169482777 3:169764989-169764989
3 TERC NR_001566.1(TERC):n.110_113deldeletion Pathogenic 7325 rs199422270 3:169482736-169482739 3:169764948-169764951
4 SBDS NM_016038.4(SBDS):c.258+2T>CSNV Pathogenic 3196 rs113993993 7:66459197-66459197 7:66994210-66994210
5 TERT NM_198253.3(TERT):c.2080G>A (p.Val694Met)SNV Pathogenic 12731 rs121918662 5:1279456-1279456 5:1279341-1279341
6 TERT NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys)SNV Pathogenic 12732 rs121918663 5:1272367-1272367 5:1272252-1272252
7 PRF1 NM_001083116.3(PRF1):c.1163G>T (p.Ser388Ile)SNV Pathogenic 13719 rs193302875 10:72358314-72358314 10:70598558-70598558
8 SBDS NM_016038.4(SBDS):c.258+1G>CSNV Pathogenic 21538 rs113993992 7:66459198-66459198 7:66994211-66994211
9 TINF2 NM_001099274.3(TINF2):c.862T>C (p.Phe288Leu)SNV Pathogenic 38925 rs199422317 14:24709824-24709824 14:24240618-24240618
10 TERT NM_198253.3(TERT):c.2147C>T (p.Ala716Val)SNV Pathogenic 39109 rs199422298 5:1278895-1278895 5:1278780-1278780
11 TERT NM_198253.3(TERT):c.2537A>G (p.Tyr846Cys)SNV Pathogenic 39114 rs199422302 5:1268680-1268680 5:1268565-1268565
12 TERT NM_198253.3(TERT):c.2628C>G (p.His876Gln)SNV Pathogenic 39116 rs199422303 5:1266605-1266605 5:1266490-1266490
13 TERT NM_198253.3(TERT):c.3043T>C (p.Cys1015Arg)SNV Pathogenic 39120 rs199422307 5:1255516-1255516 5:1255401-1255401
14 TERC NR_001566.1(TERC):n.117A>CSNV Pathogenic 39281 rs199422273 3:169482732-169482732 3:169764944-169764944
15 TERC NR_001566.1(TERC):n.178G>ASNV Pathogenic 39283 rs199422275 3:169482671-169482671 3:169764883-169764883
16 TERC NR_001566.1(TERC):n.180C>TSNV Pathogenic 39284 rs199422276 3:169482669-169482669 3:169764881-169764881
17 LOC110806306 , TERC NR_001566.1(TERC):n.28_34deldeletion Pathogenic 39287 rs199422259 3:169482815-169482821 3:169765027-169765033
18 TERC NR_001566.1(TERC):n.305G>ASNV Pathogenic 39289 rs199422279 3:169482544-169482544 3:169764756-169764756
19 TERC NR_001566.1(TERC):n.322G>ASNV Pathogenic 39290 rs199422280 3:169482527-169482527 3:169764739-169764739
20 TERC NR_001566.1(TERC):n.323C>TSNV Pathogenic 39291 rs199422281 3:169482526-169482526 3:169764738-169764738
21 TERC NR_001566.1(TERC):n.391_392deldeletion Pathogenic 39294 rs199422283 3:169482457-169482458 3:169764669-169764670
22 NBN NM_002485.4(NBN):c.1903A>T (p.Lys635Ter)SNV Pathogenic/Likely pathogenic 142559 rs587782545 8:90960063-90960063 8:89947835-89947835
23 NBN NM_002485.4(NBN):c.1030C>T (p.Gln344Ter)SNV Pathogenic/Likely pathogenic 190229 rs767215758 8:90971047-90971047 8:89958819-89958819
24 NBN NM_002485.4(NBN):c.2140C>T (p.Arg714Ter)SNV Pathogenic/Likely pathogenic 182737 rs730881864 8:90955525-90955525 8:89943297-89943297
25 IFNG NM_000619.2(IFNG):c.115-484_115-457CA[12]short repeat risk factor 14722 rs34079299 12:68552495-68552498 12:68158715-68158718
26 NBN NM_002485.5(NBN):c.511A>G (p.Ile171Val)SNV Conflicting interpretations of pathogenicity 6946 rs61754966 8:90990521-90990521 8:89978293-89978293
27 TERT NM_198253.3(TERT):c.604G>A (p.Ala202Thr)SNV Conflicting interpretations of pathogenicity 12729 rs121918661 5:1294397-1294397 5:1294282-1294282
28 TERT NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)SNV Conflicting interpretations of pathogenicity 39121 rs35719940 5:1254594-1254594 5:1254479-1254479
29 TERT NM_198253.3(TERT):c.2523C>G (p.Leu841=)SNV Conflicting interpretations of pathogenicity 539239 rs1554039733 5:1268694-1268694 5:1268579-1268579
30 TERT NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu)SNV Conflicting interpretations of pathogenicity 658729 5:1253919-1253919 5:1253804-1253804
31 TERT NM_198253.3(TERT):c.189G>A (p.Arg63=)SNV Conflicting interpretations of pathogenicity 539242 rs1554043134 5:1294916-1294916 5:1294801-1294801
32 TERT NM_198253.3(TERT):c.2263G>A (p.Val755Ile)SNV Conflicting interpretations of pathogenicity 567770 rs576633619 5:1278779-1278779 5:1278664-1278664
33 NBN NM_002485.4(NBN):c.390A>G (p.Gln130=)SNV Conflicting interpretations of pathogenicity 625984 rs146150499 8:90993052-90993052 8:89980824-89980824
34 TERT NM_198253.2(TERT):c.2130+10G>ASNV Conflicting interpretations of pathogenicity 416290 rs373879259 5:1279396-1279396 5:1279281-1279281
35 TERT NM_198253.3(TERT):c.1974G>A (p.Val658=)SNV Conflicting interpretations of pathogenicity 416276 rs778496417 5:1279562-1279562 5:1279447-1279447
36 TERT NM_198253.2(TERT):c.2287-5G>ASNV Conflicting interpretations of pathogenicity 446374 rs561426406 5:1272400-1272400 5:1272285-1272285
37 TERT NM_198253.3(TERT):c.2580C>T (p.Asp860=)SNV Conflicting interpretations of pathogenicity 471870 rs751752830 5:1268637-1268637 5:1268522-1268522
38 TERT NM_198253.3(TERT):c.1939A>C (p.Arg647=)SNV Conflicting interpretations of pathogenicity 471839 rs144821759 5:1280284-1280284 5:1280169-1280169
39 TERT NM_198253.3(TERT):c.1269C>T (p.Ala423=)SNV Conflicting interpretations of pathogenicity 471818 rs190411812 5:1293732-1293732 5:1293617-1293617
40 TERT NM_198253.3(TERT):c.645C>T (p.Gly215=)SNV Conflicting interpretations of pathogenicity 471900 rs768426236 5:1294356-1294356 5:1294241-1294241
41 TERT NM_198253.3(TERT):c.3333G>A (p.Thr1111=)SNV Conflicting interpretations of pathogenicity 242239 rs200102606 5:1253909-1253909 5:1253794-1253794
42 TERT NM_198253.3(TERT):c.2991G>A (p.Val997=)SNV Conflicting interpretations of pathogenicity 242235 rs376266401 5:1258754-1258754 5:1258639-1258639
43 TERT NM_198253.3(TERT):c.2127C>G (p.Val709=)SNV Conflicting interpretations of pathogenicity 242224 rs765264494 5:1279409-1279409 5:1279294-1279294
44 TERT NM_198253.3(TERT):c.2106G>A (p.Pro702=)SNV Conflicting interpretations of pathogenicity 242223 rs151055240 5:1279430-1279430 5:1279315-1279315
45 TERT NM_198253.3(TERT):c.2001C>T (p.Tyr667=)SNV Conflicting interpretations of pathogenicity 242221 rs758494245 5:1279535-1279535 5:1279420-1279420
46 TERT NM_198253.3(TERT):c.1317_1319GGA[2] (p.Glu441del)short repeat Conflicting interpretations of pathogenicity 212398 rs377639087 5:1293676-1293678 5:1293561-1293563
47 NBN NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)SNV Conflicting interpretations of pathogenicity 127009 rs104895032 8:90967646-90967646 8:89955418-89955418
48 NBN NM_002485.5(NBN):c.628G>T (p.Val210Phe)SNV Conflicting interpretations of pathogenicity 127014 rs61754796 8:90983475-90983475 8:89971247-89971247
49 NBN NM_002485.4(NBN):c.1999T>C (p.Ser667Pro)SNV Conflicting interpretations of pathogenicity 127863 rs587780091 8:90958439-90958439 8:89946211-89946211
50 NBN NM_002485.5(NBN):c.425A>G (p.Asn142Ser)SNV Conflicting interpretations of pathogenicity 127871 rs769414 8:90993017-90993017 8:89980789-89980789

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 KEGG:

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

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1 12.66 TERT TERC KITLG IL3 IFNG EPO
2
Show member pathways
12.33 PRF1 IL3 IFNG CSF2
3
Show member pathways
12.28 THPO IL3 IFNG EPO CSF3 CSF2
4
Show member pathways
12.08 TINF2 THPO TERT KITLG IL3 IFNG
5 11.9 THPO TERT KITLG IL3
6 11.78 SBDS NOP10 NHP2 DKC1
7
Show member pathways
11.58 IL3 IFNG CSF2
8 11.56 THPO KITLG IL3 IFNG EPO CSF3
9 11.49 TERT CSF3 CSF2
10 11.47 TINF2 TERT NBN IFNG DKC1
11 11.35 KITLG IL3 EPO
12 11.23 KITLG IL3 EPO CSF3 CSF2
13 11.16 THPO KITLG IL3 EPO CSF3 CSF2
14 11.13 IL3 IFNG CSF3 CSF2
15
Show member pathways
11.03 TINF2 TERT NBN
16 10.85 THPO KITLG IL3 CSF3 CSF2

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 extracellular region GO:0005576 10.15 THPO PRF1 KITLG IL3 IFNG EPO
2 nucleolus GO:0005730 10.05 TERT SBDS RPL5 NOP10 NHP2 NBN
3 nuclear chromosome, telomeric region GO:0000784 9.73 TINF2 TERT NHP2 NBN
4 Cajal body GO:0015030 9.67 TERC NOP10 NHP2 DKC1
5 chromosome, telomeric region GO:0000781 9.62 TINF2 TERT TERC NBN
6 small nucleolar ribonucleoprotein complex GO:0005732 9.48 NOP10 NHP2
7 nuclear telomere cap complex GO:0000783 9.46 TINF2 TERT
8 box H/ACA snoRNP complex GO:0031429 9.43 NOP10 NHP2 DKC1
9 telomerase catalytic core complex GO:0000333 9.4 TERT TERC
10 box H/ACA scaRNP complex GO:0072589 9.33 NOP10 NHP2 DKC1
11 box H/ACA telomerase RNP complex GO:0090661 9.26 TERC NOP10 NHP2 DKC1
12 telomerase holoenzyme complex GO:0005697 9.02 TERT TERC NOP10 NHP2 DKC1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.8 THPO KITLG IL3 IFNG EPO CSF3
2 ribosome biogenesis GO:0042254 9.73 SBDS NOP10 NHP2 DKC1
3 rRNA processing GO:0006364 9.72 SBDS RPL5 NOP10 NHP2 DKC1
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.71 IL3 IFNG EPO CSF2
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.69 KITLG IL3 CSF3
6 embryonic hemopoiesis GO:0035162 9.54 KITLG IL3
7 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.54 NOP10 NHP2 DKC1
8 pseudouridine synthesis GO:0001522 9.52 NOP10 DKC1
9 positive regulation of hematopoietic stem cell proliferation GO:1902035 9.49 THPO KITLG
10 positive regulation of killing of cells of other organism GO:0051712 9.48 PRF1 IFNG
11 positive regulation of interleukin-23 production GO:0032747 9.46 IFNG CSF2
12 rRNA pseudouridine synthesis GO:0031118 9.33 NOP10 NHP2 DKC1
13 snRNA pseudouridine synthesis GO:0031120 9.13 NOP10 NHP2 DKC1
14 telomere maintenance via telomerase GO:0007004 9.02 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 growth factor activity GO:0008083 9.72 THPO KITLG IL3 CSF3 CSF2
2 telomerase activity GO:0003720 9.43 TERT TERC DKC1
3 RNA-directed DNA polymerase activity GO:0003964 9.4 TERT TERC
4 telomerase RNA reverse transcriptase activity GO:0003721 9.37 TERT TERC
5 box H/ACA snoRNA binding GO:0034513 9.33 NOP10 NHP2 DKC1
6 telomerase RNA binding GO:0070034 9.26 TERT NOP10 NHP2 DKC1
7 cytokine activity GO:0005125 9.17 THPO KITLG IL3 IFNG EPO CSF3

Sources for Aplastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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44 MESH via Orphanet
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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