Aplastic Anemia (AA) malady

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

Aliases & Classifications for Aplastic Anemia

Aliases & Descriptions for Aplastic Anemia:

Name: Aplastic Anemia 54 54 38 12 50 66 13 13 41 14 69
Anemia Aplastic 50 29 52
Idiopathic Aplastic Anemia 50 56
Secondary Aplastic Anemia 50 69
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 29
Pulmonary Fibrosis, Idiopathic 54
Idiopathic Bone Marrow Failure 56
Aplastic Anemia, Idiopathic 69
Aplastic Anemia Idiopathic 50
Anemia, Aplastic 42
Aa 66


Orphanet epidemiological data:

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


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


External Ids:

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

Summaries for Aplastic Anemia

MedlinePlus : 41 aplastic anemia is a rare but serious blood disorder. if you have it, your bone marrow doesn't make enough new blood cells. there are different types, including fanconi anemia. causes include toxic substances, such as pesticides, arsenic, and benzene radiation therapy and chemotherapy for cancer certain medicines infections such as hepatitis, epstein-barr virus, or hiv autoimmune disorders certain inherited conditions pregnancy in many people, the cause is unknown. symptoms include fatigue, weakness, dizziness, and shortness of breath. it can cause heart problems such as an irregular heartbeat, an enlarged heart, and heart failure. you may also have frequent infections and bleeding. your doctor will diagnose aplastic anemia based on your medical and family histories, a physical exam, and test results. once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you. treatments include blood transfusions, blood and marrow stem cell transplants, and medicines. nih: national heart, lung, and blood institute

MalaCards based summary : Aplastic Anemia, also known as anemia aplastic, is related to pulmonary fibrosis, idiopathic and hemophagocytic lymphohistiocytosis, and has symptoms including pulmonary fibrosis, bone marrow hypocellularity and cirrhosis. An important gene associated with Aplastic Anemia is TERC (Telomerase RNA Component), and among its related pathways/superpathways are Allograft rejection and Immune response Role of DAP12 receptors in NK cells. The drugs Benzocaine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, and related phenotypes are hematopoietic system and cellular

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

NIH Rare Diseases : 50 aplastic anemia is a blood disorder caused by failure of the bone marrow to make enough new blood cells. bone marrow is a sponge-like tissue inside the bones that makes stem cells that develop into red blood cells, white blood cells, and platelets. symptoms may include: fatigue,weakness, dizziness, shortness of breath, frequent infections, and bleeding. aplastic anemia can lead to other health concerns such as an irregular heartbeat, an enlarged heart, and heart failure. it can be caused by injury to blood stem cells due to exposure to certain drugs, chemotherapy, congenital disorders, drug therapy to suppress the immune system, pregnancy, radiation therapy, or toxins such as benzene or arsenic. when the cause is unknown, it is referred to as idiopathic aplastic anemia. in about half of all cases, no cause can be found. the condition can be acute or chronic. last updated: 11/30/2016

OMIM : 54 Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year.... (609135) more...

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 Aplastic anemia is a rare disease in which the bone marrow and the hematopoietic stem cells that reside... more...

Related Diseases for Aplastic Anemia

Diseases in the Aplastic Anemia family:

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

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

(show top 50) (show all 239)
id Related Disease Score Top Affiliating Genes
1 pulmonary fibrosis, idiopathic 33.9 CSF2 FAS IL3 NBN PRF1 SH2D1A
2 hemophagocytic lymphohistiocytosis 30.2 CSF2 GATA2 IL3 KITLG MPL THPO
3 sinusitis 30.2 CSF2 IL3 KITLG
4 amyloidosis aa 12.2
5 helsmoortel-van der aa syndrome 12.1
6 pulmonary fibrosis, idiopathic susceptibility 12.0
7 aplastic anemia susceptibility, sbds-related 11.9
8 aplastic anemia, ifng-related 11.9
9 aplastic anemia, prf1-related 11.9
10 retinopathy aplastic anemia neurological abnormalities 11.9
11 congenital hypoplastic anemia 11.7
12 alopecia areata 11.7
13 bone marrow failure syndrome 1 11.6
14 dyskeratosis congenita, autosomal dominant 6 11.5
15 adnp syndrome 11.4
16 paroxysmal nocturnal hemoglobinuria 11.4
17 dyskeratosis congenita 11.2
18 eosinophilic fasciitis 11.2
19 revesz syndrome 11.2
20 idiopathic interstitial pneumonia 11.1
21 renal nutcracker syndrome 11.0
22 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.0
23 dyskeratosis congenita, autosomal dominant 2 11.0
24 dyskeratosis congenita, autosomal recessive 5 11.0
25 dyskeratosis congenita, autosomal dominant 3 11.0
26 superior mesenteric artery syndrome 10.9
27 7q11.23 duplication syndrome 10.9
28 sveinsson choreoretinal atrophy 10.9
29 aarskog-scott syndrome 10.9
30 immunodeficiency 21 10.8
31 dyskeratosis congenita, autosomal recessive 1 10.8
32 dyskeratosis congenita, autosomal recessive 6 10.8
33 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 10.8
34 deficiency anemia 10.8
35 dyskeratosis congenita, autosomal recessive 2 10.8
36 myelophthisic anemia 10.8
37 dyskeratosis congenita, autosomal recessive 3 10.8
38 littoral cell angioma of the spleen 10.8
39 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.8
40 lymphoproliferative syndrome, x-linked, 1 10.8
41 sideroblastic anemia 10.8
42 chromosome 7q11.23 duplication syndrome 10.8
43 amyloidosis, hereditary, transthyretin-related 10.8
44 adnp-related intellectual disability and autism spectrum disorder 10.7
45 myelodysplastic syndrome 10.5
46 intellectual disability - hypoplastic corpus callosum - preauricular tag 10.4 SBDS TERC TERT
47 pyloric stenosis, infantile hypertrophic, 4 10.4 EPO IL3 PIGA
48 hemoglobinuria 10.4
49 hypocalciuric hypercalcemia, type i 10.4 TERC TERT TINF2
50 cytokine receptor deficiency 10.4 CSF2 IL3 KITLG THPO

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

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

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

Diseases related to Aplastic Anemia

Symptoms & Phenotypes for Aplastic Anemia

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:

614743 609135

Human phenotypes related to Aplastic Anemia:

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

UMLS symptoms related to Aplastic Anemia:

angina pectoris, chest pain, edema

MGI Mouse Phenotypes related to Aplastic Anemia:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.41 CD55 CD59 CSF2 DKC1 EPO FAS
2 cellular MP:0005384 10.4 FAS GATA2 IFNG KITLG MPL NBN
3 homeostasis/metabolism MP:0005376 10.31 CD59 CSF2 DKC1 EPO FAS GATA2
4 growth/size/body region MP:0005378 10.29 CSF2 DKC1 FAS GATA2 IFNG KITLG
5 immune system MP:0005387 10.25 CSF2 DKC1 EPO FAS IFNG KITLG
6 endocrine/exocrine gland MP:0005379 10.24 PRF1 SBDS TERT TINF2 CD59 CSF2
7 embryo MP:0005380 10.21 CSF2 DKC1 EPO GATA2 IFNG KITLG
8 mortality/aging MP:0010768 10.13 CD59 CSF2 DKC1 EPO FAS GATA2
9 integument MP:0010771 10.02 CSF2 DKC1 EPO FAS IFNG KITLG
10 liver/biliary system MP:0005370 9.87 EPO FAS GATA2 IFNG KITLG PRF1
11 neoplasm MP:0002006 9.81 IFNG KITLG NBN PIGA PRF1 TERT
12 normal MP:0002873 9.61 SBDS TERT TINF2 DKC1 EPO FAS
13 reproductive system MP:0005389 9.4 PRF1 TERT TINF2 FAS GATA2 IFNG

Drugs & Therapeutics for Aplastic Anemia

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

(show top 50) (show all 229)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
Lenograstim Approved Phase 4,Phase 3,Phase 2,Phase 1 135968-09-1
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 1 53-03-2 5865
Iron Approved Phase 4,Phase 3,Phase 2 7439-89-6 23925
Deferasirox Approved, Investigational Phase 4,Phase 3,Phase 2 201530-41-8 5493381
Etanercept Approved, Investigational Phase 4 185243-69-0
Mechlorethamine Approved Phase 4,Phase 2 51-75-2 4033
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
Radium Ra 223 dichloride Approved, Investigational Phase 4 444811-40-9
Succinylcholine Approved Phase 4 306-40-1 5314
Darbepoetin alfa Approved, Investigational Phase 4,Phase 2 11096-26-7, 209810-58-2
15 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
16 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
19 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
21 Calcineurin Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
22 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
24 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
25 Epoetin alfa Phase 4,Phase 3,Phase 2 113427-24-0
26 Hematinics Phase 4,Phase 3,Phase 2
27 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
28 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
29 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Phase 1
30 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
31 Liver Extracts Phase 4,Phase 2,Phase 1
32 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
33 Hormones Phase 4,Phase 2,Phase 3,Phase 1
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
35 Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Iron Chelating Agents Phase 4,Phase 3,Phase 2
37 Analgesics Phase 4,Phase 3,Phase 1,Phase 2
38 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1,Phase 2
39 Anti-Inflammatory Agents, Non-Steroidal Phase 4
40 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1
41 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1
42 Anticoagulants Phase 4,Phase 3,Phase 1,Phase 2
43 Calcium, Dietary Phase 4,Phase 3,Phase 1,Phase 2
44 Antiparasitic Agents Phase 4,Phase 2
45 Antiprotozoal Agents Phase 4
46 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 2
47 Steroid Synthesis Inhibitors Phase 4,Phase 2
48 Neuromuscular Agents Phase 4
49 Neuromuscular Blocking Agents Phase 4
50 Neuromuscular Depolarizing Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 352)
id Name Status NCT ID Phase
1 Moderate-dose Cyclophosphamide for Childhood Acquired Aplastic Anemia Unknown status NCT01995331 Phase 4
2 Different Doses of Anti-thymocyte Globin to Treat Child Severe Aplastic Anemia Unknown status NCT01997372 Phase 4
3 Treatment Protocol of Child SAA With the Injection of Mesenchymal Stem Cells(Umbilical Cord Derived) Unknown status NCT02218437 Phase 4
4 Safety and Efficacy of Exjade in the Treatment of Transfusion-dependent Iron Overload in Aplastic Anemia Patients Completed NCT01818726 Phase 4
5 Safety and Efficacy of Desferasirox in Chinese Patients With Iron Overload and Aplastic Anemia Completed NCT01546415 Phase 4
6 Surveillance Study to Estimate the Incidence of Pure Red Blood Cell Aplasia Among Patients With Chronic Kidney Failure Completed NCT00391287 Phase 4
7 Study Evaluating the Efficacy of Enbrel (Etanercept) in Subjects in Japan Completed NCT00503503 Phase 4
8 A Study to Observe the Number of Patients Who Develop Pure Red Cell Aplasia (PRCA, a Rare Form of Anemia) While Receiving Epoetin Alfa or Other Recombinant Erythropoietins Completed NCT00211029 Phase 4
9 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4
10 Fanconi Syndrome Due to ARVs in HIV-Infected Persons Completed NCT00499187 Phase 4
11 A Study of Patients With Pure Red Cell Aplasia Associated With Recombinant Human Erythropoietin Treatment Completed NCT00211042 Phase 4
12 A Study of Risk Factors for Anti-erythropoietin Antibody Positive Pure Red Cell Aplasia Among Patients With Chronic Kidney Disease Receiving Epoetin Alfa Completed NCT00211068 Phase 4
13 Study to Monitor the Incidence of Pure Red Cell Aplasia (PRCA) and/or Antibodies to Erythropoietin Among Participants Receiving Epoetin Alfa or Another Erythropoietin Completed NCT00210951 Phase 4
14 The Efficacy of Immunosuppressive Therapy Combined With Cord Blood Transfusion in Treatment of Severe Aplastic Anemia Recruiting NCT02745717 Phase 4
15 Ferric Citrate in ESRD Pilot Project Recruiting NCT03055598 Phase 4
16 Radium-223 Dichloride Long-term Follow-up Program Recruiting NCT02312960 Phase 4
17 A Study to Assess All-Cause Mortality and Cardiovascular Morbidity in Participants With Chronic Kidney Disease (CKD) on Dialysis and Those Not on Renal Replacement Therapy Receiving Methoxy Polyethylene Glycol-Epoetin Beta (Mircera) or Reference Erythropo Active, not recruiting NCT00773513 Phase 4
18 Pure Red Cell Aplasia in Patients With Chronic Kidney Disease and in Use of Epoetin Alfa Enrolling by invitation NCT02648126 Phase 4
19 ATG Combined With Cyclophosphamide And Cord Blood Transfusion in Treating Patients With Severe Aplastic Anemia Not yet recruiting NCT02838992 Phase 4
20 King's Invasive Aspergillosis Study II Not yet recruiting NCT02875743 Phase 4
21 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
22 A Study of Patients Treated With Erythropoietin Receptor Agonists for Anemia Who Developed Anti-erythropoietin Antibodies Withdrawn NCT00210977 Phase 4
23 Comparison of Cy-Atg vs Flu-Atg for the Conditioning Therapy in Allo-HCT for Adult Aplastic Anemia Unknown status NCT01145976 Phase 3
24 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3
25 Cohort Study to Determine the Long-Term Safety and Efficacy of Biogeneric Epoetin Treatment for Renal Anemia Unknown status NCT00238043 Phase 3
26 Comparing Therapies for the Treatment of Severe Aplastic Anemia Completed NCT00001626 Phase 3
27 Phase III Randomized Study of Cyclophosphamide With or Without Antithymocyte Globulin Before Bone Marrow Transplantation in Patients With Aplastic Anemia Completed NCT00004474 Phase 3
28 Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA Completed NCT00455312 Phase 2, Phase 3
29 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3
30 A Study of Eltrombopag or Placebo in Combination With Azacitidine in Subjects With International Prognostic Scoring System (IPSS) Intermediate-1, Intermediate-2 or High-risk Myelodysplastic Syndromes (MDS) Completed NCT02158936 Phase 3
31 Eculizumab to Treat Paroxysmal Nocturnal Hemoglobinuria Completed NCT00098280 Phase 3
32 High Dose Cyclophosphamide for Treatment of Scleroderma Completed NCT00501995 Phase 3
33 Daunorubicin & Cytarabine +/- Zosuquidar inTreating Older Patients With Newly Diagnosed Acute Myeloid Leukemia or Refractory Anemia Completed NCT00046930 Phase 3
34 Combination Chemotherapy With or Without Bone Marrow Transplantation in Treating Children With Acute Myelogenous Leukemia or Myelodysplastic Syndrome Completed NCT00002798 Phase 3
35 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3
36 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3
37 Iron Sucrose in Stage 3/4 Kidney Disease Completed NCT00202345 Phase 3
38 Efficacy and Safety Study of GerEPO Completed NCT00229099 Phase 3
39 Efficacy and Safety of Eltrombopag + CSA in Patients With Moderate Aplastic Anemia (EMAA) Recruiting NCT02773225 Phase 2, Phase 3
40 Randomised Study Comparing Different Dosages of Rabbit ATG in Patients With SAA Recruiting NCT01844635 Phase 3
41 hATG+CsA vs hATG+CsA+Eltrombopag for SAA Recruiting NCT02099747 Phase 3
42 Transfusion Strategy in Hematological Intensive Care Unit Recruiting NCT02461264 Phase 3
43 TBI Dose De-escalation for Fanconi Anemia Recruiting NCT00352976 Phase 2, Phase 3
44 Study of Romiplostim(AMG531) in Subjects With Aplastic Anemia Active, not recruiting NCT02773290 Phase 2, Phase 3
45 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3
46 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3
47 Randomized Study In Severe Aplastic Anemia Patients Receiving Atg, Cyclosporin A, With Or Without G-CSF (SAA-G-CSF) Terminated NCT01163942 Phase 3
48 Trial of Two Central Venous Catheter (CVC) Flushing Schemes in Pediatric Hematology and Oncology Patients Terminated NCT01343680 Phase 3
49 Study of Anti-r-HuEpo Associated Pure Red Cell Aplasia (PRCA) Treatment Terminated NCT01288131 Phase 3
50 A Phase III Clinical Trial of PROCRIT (Epoetin Alfa) Versus Placebo in Women Undergoing Adjuvant Chemotherapy for Stage I, II or III Breast Cancer Terminated NCT00246597 Phase 3

Search NIH Clinical Center for Aplastic Anemia

Cell-based therapeutics:

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

Cochrane evidence based reviews: anemia, aplastic

Genetic Tests for Aplastic Anemia

Genetic tests related to Aplastic Anemia:

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

Anatomical Context for Aplastic Anemia

MalaCards organs/tissues related to Aplastic Anemia:

Bone, Bone Marrow, Heart, T Cells, Lung, Testes, Liver

Publications for Aplastic Anemia

Articles related to Aplastic Anemia:

(show top 50) (show all 1042)
id Title Authors Year
Allogeneic Bone Marrow-Derived Mesenchymal Stromal Cells Expanded In Vitro for Treatment of Aplastic Anemia: A Multicenter Phase II Trial. ( 28504860 )
Interleukin-2 and Interleukin-8 Gene Polymorphisms and Acquired Aplastic Anemia Risk in a Chinese Population. ( 28268223 )
Transforming growth factor 15 increased in severe aplastic anemia patients. ( 28385068 )
Severe Aplastic Anemia following Parvovirus B19-Associated Acute Hepatitis. ( 28512588 )
Hemophagocytic lymphohistiocytosis following influenza vaccination in a patient with aplastic anemia undergoing allogeneic bone marrow stem cell transplantation. ( 28054244 )
Lethal aplastic anemia caused by dual immune checkpoint blockade in metastatic melanoma. ( 28407116 )
Erythroid response during iron chelation therapy in a cohort of patients affected by hematologic malignancies and aplastic anemia with transfusion requirement and iron overload: a FISM Italian multicenter retrospective study. ( 28482720 )
Eltrombopag Added to Standard Immunosuppression for Aplastic Anemia. ( 28423296 )
Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia. ( 28443261 )
Evidence for Increased Response to Induced Endoplasmic Reticulum Stress in Myeloid Cells in Acquired Aplastic Anemia. ( 28333839 )
Meta-analysis of treatment with rabbit and horse antithymocyte globulin for aplastic anemia. ( 28078653 )
Interleukin-6 and Interleukin-8 Levels Correlate With the Severity of Aplastic Anemia in Children. ( 28060106 )
From chronic immune thrombocytopenia to severe aplastic anemia: recent insights into the evolution of eltrombopag. ( 28473904 )
Development of a disease-specific quality of life questionnaire for patients with aplastic anemia and/or paroxysmal nocturnal hemoglobinuria (QLQ-AA/PNH)-report on phases I and II. ( 27837250 )
Epstein-Barr Virus-associated Lymphoproliferative Disorder with Encephalitis Following Anti-thymocyte Globulin for Aplastic Anemia Resolved with Rituximab Therapy: A Case Report and Literature Review. ( 28321074 )
Novel deletion mutation of HLA-B*40:02 gene in acquired aplastic anemia. ( 28025876 )
Circulating microRNAs: promising biomarkers in aplastic anemia. ( 28040785 )
Aplastic anemia and cytotoxic T lymphocyte antigen-4 haploinsufficiency treated with bone marrow transplantation. ( 28499781 )
Vascular and perivascular niches, but not the osteoblastic niche, are numerically restored following allogeneic hematopoietic stem cell transplantation in patients with aplastic anemia. ( 28303517 )
Association of aplastic anemia and FoxP3 gene polymorphisms in Koreans. ( 27702400 )
Myelodysplasia and acute myeloid leukemia fifteen years after high-dose cyclophosphamide in a child with severe aplastic anemia. ( 28270348 )
Population pharmacokinetics of fludarabine in patients with aplastic anemia and Fanconi anemia undergoing allogeneic hematopoietic stem cell transplantation. ( 28481355 )
Aplastic anemia and risk of deep vein thrombosis and pulmonary embolism: A nationwide cohort study. ( 27923178 )
Mixed T Cell Chimerism After Allogeneic Hematopoietic Stem Cell Transplantation for Severe Aplastic Anemia Using an Alemtuzumab-Containing Regimen Is Shaped by Persistence of Recipient CD8 T Cells. ( 27816648 )
Aplastic anemia in a lung adenocarcinoma patient receiving pemetrexed. ( 28361276 )
Glycosylphosphatidylinositol-specific T cells, IFN-I^-producing T cells, and pathogenesis of idiopathic aplastic anemia. ( 27903525 )
Induced Pluripotent Stem Cell Technology: A Window for Studying the Pathogenesis of Acquired Aplastic Anemia and Possible Applications. ( 28062362 )
Severe Aplastic Anemia during Osimertinib TherapyA in a Patient withA EGFR Tyrosine KinaseA Inhibitor-Resistant Non-Small Cell Lung Cancer. ( 28434513 )
Features of Hepatitis in Hepatitis-associated Aplastic Anemia: Clinical and Histopathologic Study. ( 28030425 )
Cotransplantation of bone marrow-derived mesenchymal stem cells in haploidentical hematopoietic stem cell transplantation in patients with severe aplastic anemia: an interim summary for a multicenter phase II trial results. ( 28067873 )
Effect of antithymocyte globulin source on outcomes of bone marrow transplantation for severe aplastic anemia. ( 28341733 )
Updates on the pathophysiology and treatment of aplastic anemia: a comprehensive review. ( 28452257 )
Active Invasive Fungal Infection in a Patient With Severe Aplastic Anemia. ( 27063485 )
Improved Outcome of a Reduced Toxicity-Fludarabine, Cyclophosphamide, plus Thymoglobulin Conditioning Regimen for Unrelated Donor Transplantation in Severe Aplastic Anemia: Comparison of 2 Multicenter Prospective Studies. ( 27090956 )
Nutritional status survey of aplastic anemia patients - a single center experience in China. ( 27091269 )
Terson Syndrome from Subarachnoid Hemorrhage in Aplastic Anemia. ( 27107354 )
Long-term issues after Immunosuppressive therapy for Aplastic Anemia. ( 27138765 )
Biomarkers for predicting clinical response to immunosuppressive therapy in aplastic anemia. ( 27091471 )
Decreased expression of vitamin D receptor may contribute to the hyperimmune status of patients with acquired aplastic anemia. ( 26152509 )
Aplastic anemia presenting with bilateral, symmetric preretinal macular hemorrhages. ( 27938969 )
Alternative Donor Transplantation with High-Dose Post-Transplantation Cyclophosphamide for Refractory Severe Aplastic Anemia. ( 28013015 )
An Unusual Congenital Anomalia in Fanconi Aplastic Anemia: Congenital Lobar Emphysema. ( 27094981 )
Effect of Recipient Age and Stem Cell Source on the Association between Donor Telomere Length and Survival after Allogeneic Unrelated Hematopoietic Cell Transplantation for Severe Aplastic Anemia. ( 27641680 )
Successful Treatment of Epstein-Barr Virus-Associated Lymphoproliferative Disorder with Rituximab in a Patient Undergoing Immunosuppressive Therapy for Aplastic Anemia. ( 27561697 )
Abnormal histone acetylation of CD8(+) T cells in patients with severe aplastic anemia. ( 27485471 )
Role of vitamin D receptor gene polymorphisms in aplastic anemia: a case-control study from China. ( 27018192 )
Aplastic anemia and clonal evolution: germ line and somatic genetics. ( 27913465 )
Left main crossover stenting in a patient with severe thrombocytopenia due to aplastic anemia. ( 27885510 )
Aplastic anemia: the correct nomenclature matters. ( 27582572 )
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. ( 27418648 )

Variations for Aplastic Anemia

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

id Symbol AA change Variation ID SNP ID
1 TERT p.His412Tyr VAR_025149 rs34094720
2 TERT p.Ala202Thr VAR_036863 rs121918661
3 TERT p.Val694Met VAR_036866 rs121918662
4 TERT p.Lys570Asn VAR_062536
5 TERT p.Gly682Asp VAR_062537 rs199422295
6 TERT p.Thr726Met VAR_062539 rs149566858
7 TERT p.Arg631Gln VAR_062783 rs199422294
8 TERT p.Pro785Leu VAR_062784

ClinVar genetic disease variations for Aplastic Anemia:

6 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1 SBDS NM_016038.3(SBDS): c.258+2T> C single nucleotide variant Pathogenic,risk factor rs113993993 GRCh37 Chromosome 7, 66459197: 66459197
2 TERC NR_001566.1(TERC): n.204C> G single nucleotide variant Pathogenic rs199422277 GRCh37 Chromosome 3, 169482645: 169482645
3 TERC NR_001566.1(TERC): n.72C> G single nucleotide variant Pathogenic rs199422265 GRCh37 Chromosome 3, 169482777: 169482777
4 TERC NR_001566.1(TERC): n.110_113delGACT deletion Pathogenic rs199422270 GRCh37 Chromosome 3, 169482736: 169482739
5 TERC NR_001566.1(TERC): n.116C> T single nucleotide variant Pathogenic rs199422272 GRCh37 Chromosome 3, 169482733: 169482733
6 TERC NR_001566.1(TERC): n.98G> A single nucleotide variant Pathogenic rs199422268 GRCh37 Chromosome 3, 169482751: 169482751
7 TERC TERC, 325G-T single nucleotide variant Pathogenic
8 TERT NM_198253.2(TERT): c.2080G> A (p.Val694Met) single nucleotide variant Pathogenic rs121918662 GRCh37 Chromosome 5, 1279456: 1279456
9 TERT NM_198253.2(TERT): c.2315A> G (p.Tyr772Cys) single nucleotide variant Pathogenic rs121918663 GRCh37 Chromosome 5, 1272367: 1272367
10 TERT NM_198253.2(TERT): c.3268G> A (p.Val1090Met) single nucleotide variant Pathogenic rs121918664 GRCh37 Chromosome 5, 1254510: 1254510
11 PRF1 NM_001083116.1(PRF1): c.1163G> T (p.Ser388Ile) single nucleotide variant Pathogenic rs193302875 GRCh37 Chromosome 10, 72358314: 72358314
12 TERC TERC, 143G-A single nucleotide variant Pathogenic
13 TERC TERC, 212C-G single nucleotide variant Pathogenic
14 TINF2 NM_001099274.1(TINF2): c.862T> C (p.Phe288Leu) single nucleotide variant Pathogenic rs199422317 GRCh37 Chromosome 14, 24709824: 24709824
15 TERT NM_198253.2(TERT): c.2147C> T (p.Ala716Val) single nucleotide variant Pathogenic rs199422298 GRCh37 Chromosome 5, 1278895: 1278895
16 TERT NM_198253.2(TERT): c.2537A> G (p.Tyr846Cys) single nucleotide variant Pathogenic rs199422302 GRCh37 Chromosome 5, 1268680: 1268680
17 TERT NM_198253.2(TERT): c.2628C> G (p.His876Gln) single nucleotide variant Pathogenic rs199422303 GRCh37 Chromosome 5, 1266605: 1266605
18 TERT NM_198253.2(TERT): c.2935C> T (p.Arg979Trp) single nucleotide variant Pathogenic rs199422305 GRCh37 Chromosome 5, 1260624: 1260624
19 TERT NM_198253.2(TERT): c.3043T> C (p.Cys1015Arg) single nucleotide variant Pathogenic rs199422307 GRCh37 Chromosome 5, 1255516: 1255516
20 TERC NR_001566.1(TERC): n.117A> C single nucleotide variant Pathogenic rs199422273 GRCh37 Chromosome 3, 169482732: 169482732
21 TERC NR_001566.1(TERC): n.178G> A single nucleotide variant Pathogenic rs199422275 GRCh37 Chromosome 3, 169482671: 169482671
22 TERC NR_001566.1(TERC): n.180C> T single nucleotide variant Pathogenic rs199422276 GRCh37 Chromosome 3, 169482669: 169482669
23 TERC NR_001566.1(TERC): n.28_34delGTGGTGG deletion Pathogenic rs199422259 GRCh37 Chromosome 3, 169482815: 169482821
24 TERC NR_001566.1(TERC): n.305G> A single nucleotide variant Pathogenic rs199422279 GRCh37 Chromosome 3, 169482544: 169482544
25 TERC NR_001566.1(TERC): n.322G> A single nucleotide variant Pathogenic rs199422280 GRCh37 Chromosome 3, 169482527: 169482527
26 TERC NR_001566.1(TERC): n.323C> T single nucleotide variant Pathogenic rs199422281 GRCh37 Chromosome 3, 169482526: 169482526
27 TERC NR_001566.1(TERC): n.391_392delCC deletion Pathogenic rs199422283 GRCh37 Chromosome 3, 169482457: 169482458

Expression for Aplastic Anemia

Search GEO for disease gene expression data for Aplastic Anemia.

Pathways for Aplastic Anemia

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

(show all 16)
id Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
11.59 CSF2 IFNG IL3
7 11.53 EPO IFNG IL3
9 11.49 CD55 CD59 CSF2 EPO IL3 KITLG
11 11.35 EPO IL3 KITLG
Show member pathways
15 11.11 CSF2 IFNG IL3
Show member pathways

GO Terms for Aplastic Anemia

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

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.65 CD55 CD59 EPO FAS MPL
2 extracellular region GO:0005576 9.32 CD55 CD59 CSF2 EPO FAS IFNG
3 nuclear telomere cap complex GO:0000783 9.16 TERT TINF2
4 chromosome, telomeric region GO:0000781 9.13 NBN TERT TINF2

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.93 CD59 EPO FAS KITLG TERT
2 positive regulation of cell proliferation GO:0008284 9.91 CSF2 EPO IFNG IL3 KITLG
3 positive regulation of neuron differentiation GO:0045666 9.7 EPO GATA2 IFNG
4 embryonic hemopoiesis GO:0035162 9.55 IL3 KITLG
5 positive regulation of telomere maintenance GO:0032206 9.49 NBN TINF2
6 positive regulation of megakaryocyte differentiation GO:0045654 9.48 GATA2 THPO
7 positive regulation of interleukin-23 production GO:0032747 9.46 CSF2 IFNG
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.46 CSF2 EPO IFNG IL3
9 positive regulation of hematopoietic stem cell proliferation GO:1902035 9.43 KITLG THPO
10 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.43 CSF2 EPO IL3
11 positive regulation of killing of cells of other organism GO:0051712 9.4 IFNG PRF1
12 thrombopoietin-mediated signaling pathway GO:0038163 9.37 MPL THPO
13 inflammatory cell apoptotic process GO:0006925 9.32 FAS IFNG
14 positive regulation of DNA replication GO:0045740 9.26 CSF2 EPO IL3 KITLG
15 cell proliferation GO:0008283 9.17 DKC1 EPO KITLG MPL NBN SBDS

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

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.26 CSF2 IL3 KITLG THPO
2 telomerase activity GO:0003720 9.16 DKC1 TERT
3 cytokine activity GO:0005125 9.02 CSF2 IFNG IL3 KITLG THPO

Sources for Aplastic Anemia

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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