MCID: APL001
MIFTS: 77

Aplastic Anemia malady

Immune, Blood, Bone categories

Summaries for Aplastic Anemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 47OMIM, 33MalaCards
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MedlinePlus:34 Aplastic anemia is a rare but serious blood disorder. if you have it, your bone marrow doesn't make enough new blood cells. causes include being exposed to 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 in many people, the cause is unknown. 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: Aplastic Anemia, also known as anemia aplastic, is related to refractory anemia and hemoglobinuria. An important gene associated with Aplastic Anemia is IFNG (interferon, gamma), and among its related pathways are PEDF Induced Signaling and Hematopoietic cell lineage. The drug carboplatin and the compounds methylcellulose and thymidine have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and kidney, and related mouse phenotypes are hematopoietic system and cellular.

Disease Ontology:8 An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.

NIH Rare Diseases:43 Aplastic anemia is failure of the bone marrow to make enough blood cells. all blood cell types are affected. 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: 8/21/2009

Wikipedia:64 Aplastic anemia is a disease in which the bone marrow, and the blood stem cells that reside there, are... more...

Description from OMIM:47 609135,614742,614743

Aliases & Classifications for Aplastic Anemia

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 34MedlinePlus, 31LifeMap Discovery™, 61UMLS, 22GTR, 45Novoseek, 49Orphanet, 40NCIt, 57SNOMED-CT, 35MeSH, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune, Blood, Bone


Characteristics (Orphanet epidemiological data):

49
idiopathic aplastic anemia:
Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

aplastic anemia 8 9 43 47 10 34 31 61
anemia aplastic 43 22 45
idiopathic aplastic anemia 43 49
bone marrow diseases 34 61
aplastic anemia, idiopathic 61
aplastic anemia idiopathic 43
secondary aplastic anemia 43
bone marrow failure 49


External Ids:

Disease Ontology8 DOID:12449
NCIt40 C2870
MeSH35 D000741
ICD9CM27 284.9
MESH via Orphanet36 C538494
ICD10 via Orphanet26 D61.0
SNOMED-CT via Orphanet58 191256002
UMLS via Orphanet62 C0348890

Related Diseases for Aplastic Anemia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 287)
idRelated DiseaseScoreTop Affiliating Genes
1refractory anemia31.2CSF2, CSF3, EPO, KITLG, IL3, THPO
2hemoglobinuria31.2PIGA
3acute leukemia31.0KITLG, IL3, THPO, TERT, TERC, FLT3LG
4dyskeratosis congenita30.9DKC1, TERC
5myelodysplastic syndromes30.9TERC, PIGA, CSF3, FLT3LG, EPO, IL3
6hepatitis c30.8THPO, IFNG
7pancytopenia30.6CSF2, CSF3, DKC1, EPO, IL3, THPO
8graft versus host disease30.6CSF2, CSF3, IL3, IFNG
9hepatitis b30.6IFNG, TERT
10deficiency anemia30.5CSF3, CSF2, PIGA, EPO, TERC, THPO
11fanconi's anemia30.5KITLG, TERC, THPO, DKC1, IL3
12thrombocytopenia30.4CSF3, CSF2, FLT3LG, EPO, IL3, KITLG
13aspergillosis30.4IFNG
14acute lymphocytic leukemia30.3CSF2, CSF3, GATA2, IL3, KITLG, THPO
15diamond-blackfan anemia30.3IL3, EPO
16iron deficiency anemia30.3EPO, THPO
17acute promyelocytic leukemia30.3CSF3, GATA2, IL3
18severe congenital neutropenia autosomal recessive 330.1IL3, CSF3, CSF2
19felty's syndrome30.1CSF3, IL3, CSF2
20diphtheria30.1CSF2, IL3
21hemophagocytic lymphohistiocytosis30.1PRF1
22chronic myeloid leukemia30.0CSF2RA, IL3, CSF2, EPO, GATA2, CSF3
23severe congenital neutropenia30.0IL3, THPO, CSF2, KITLG, CSF3
24leukopenia30.0IL3, FLT3LG, CSF2, CSF3
25colorectal cancer30.0KITLG, TERC, TERT
26arthritis30.0IFNG, CSF2
27erythrocytosis30.0EPO, IL3, KITLG
28chronic myelomonocytic leukemia30.0CSF2, CSF3, KITLG
29congenital amegakaryocytic thrombocytopenia30.0IL3, THPO
30hemosiderosis30.0EPO
31paroxysmal nocturnal hemoglobinuria10.8
32inherited bone marrow failure syndromes10.8
33hematopoietic stem cell transplantation10.8
34hepatitis a10.7
35n syndrome10.6
36acute myeloid leukemia10.4
37t-cell leukemia10.4
38hepatitis e10.3
39hemochromatosis10.3
40thymoma10.3
41bone marrow necrosis10.3
42eosinophilic fasciitis10.3
43hepatitis c virus10.3
44x-linked sideroblastic anemia10.3
45dyskeratosis congenita x-linked10.3
46acute liver failure10.3
47pseudotumor cerebri10.3
48systemic lupus erythematosus10.3
49hepatitis d10.3
50pyomyositis10.3

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



Diseases related to aplastic anemia

Clinical Features for Aplastic Anemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

609135,614742,614743

Clinical synopsis from OMIM:

614743

Drugs & Therapeutics for Aplastic Anemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Genetic Tests for Aplastic Anemia

Sources:
22GTR
See all sources

Genetic tests related to Aplastic Anemia:

id Genetic test Affiliating Genes
1 Aplastic Anemia22

Anatomical Context for Aplastic Anemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Aplastic Anemia:

33
Skin, Liver, Kidney, Lung, Bone marrow, Thymus, Heart, Small intestine, Colon, Thyroid, Myeloid, Monocytes, T cells, B lymphoblasts, B cells, Endothelial, Fetal liver, Fetal lung, Fetal thyroid

Animal Models for Aplastic Anemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Aplastic Anemia

Sources:
51PubMed
See all sources

Articles related to Aplastic Anemia:

(show top 50)    (show all 856)
idTitleAuthorsYear
1
Comparison of the efficacy of rabbit and horse antithymocyte globulin for the treatment of severe aplastic anemia in children. (23372153)
2013
2
Border between aplastic anemia and myelodysplastic syndrome. (23613266)
2013
3
The efficacy of rabbit antithymocyte globulin with cyclosporine in comparison to horse antithymocyte globulin as a first-line treatment in adult patients with severe aplastic anemia: a single-center retrospective study. (23318980)
2013
4
Low frequency clonal mutations recoverable by deep sequencing in patients with aplastic anemia. (23370706)
2013
5
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. (22180433)
2012
6
Treatment of acquired aplastic anemia in patients with acute liver failure occurring concurrently: a case series. (23018574)
2012
7
HLA-matched sibling transplantation for severe aplastic anemia: impact of HLA DR15 antigen status on engraftment, graft-versus-host disease, and overall survival. (22387349)
2012
8
Effect of kidney-reinforcing, blood-activating and stasis-removing recipes on adhesion molecule expression of bone marrow mesenchymal stem cells from chronic aplastic anemia patients. (23427395)
2012
9
Functional characterization of CD4+ T cells in aplastic anemia. (22138514)
2012
10
Comparison between matched related and alternative donors of allogeneic hematopoietic stem cells transplanted into adult patients with acquired aplastic anemia: multivariate and propensity score-matched analysis. (21220035)
2011
11
Costs and consequences of immunosuppressive therapy in children with aplastic anemia. (21632841)
2011
12
Immunosuppressive therapy without hematopoietic growth factor exposure in pediatric acquired aplastic anemia. (21707222)
2011
13
Successful immunosuppressive and iron chelation therapy for a severe aplastic anemia patient undergoing hemodialysis due to chronic renal failure. (21431347)
2011
14
Comparison of matched-sibling donor BMT and unrelated donor BMT in children and adolescent with acquired severe aplastic anemia. (20118992)
2010
15
HLA-matched sibling transplantation with BM and CD34(+)-purified PBSCs in adult patients with high-risk severe aplastic anemia to overcome graft rejection without an increase in GVHD. (20062099)
2010
16
The effect of different ATG preparations on immune recovery after allogeneic hematopoietic stem cell transplantation for severe aplastic anemia. (20557676)
2010
17
Posterior segment ophthalmic complications of aplastic anemia. (20806744)
2010
18
Successful engraftment with fludarabine, cyclophosphamide, and thymoglobulin conditioning regimen in unrelated transplantation for severe aplastic anemia: A phase II prospective multicenter study. (20685256)
2010
19
Development of cerebral venous sinus thrombosis in an aplastic anemia patient with antiphospholipid syndrome. (21034573)
2010
20
Incidence and clinical characteristics of clonal cytogenetic abnormalities of acquired aplastic anemia in adults. (21253425)
2010
21
Complete response to tacrolimus in a child with severe aplastic anemia resistant to cyclosporin A. (19058202)
2009
22
FDG avid patchy bone marrow misinterpreted as melanoma metastases to bone in a case of aplastic anemia. (20139838)
2009
23
Etanercept as a salvage treatment for refractory aplastic anemia. (19061218)
2009
24
A case of severe aplastic anemia secondary to treatment with lenalidomide for multiple myeloma. (19018868)
2009
25
Aplastic anemia and concomitant autoimmune diseases. (19139895)
2009
26
Infections in patients with aplastic anemia. (19549579)
2009
27
Phase II study of rabbit anti-thymocyte globulin, cyclosporine and granulocyte colony-stimulating factor in patients with aplastic anemia and myelodysplastic syndrome. (19242494)
2009
28
Expression of hematopoietic cytokines EPO, SCF and GM-CSF in bone marrow cells of patients with chronic aplastic anemia]. (18928604)
2008
29
Reversible cardiomyopathy due to secondary hemochromatosis with multitransfusions for severe aplastic anemia after successful non-myeloablative stem cell transplantation. (17582528)
2008
30
Mutation of SBDS and SH2D1A is not associated with aplastic anemia in Japanese children. (18024409)
2007
31
High frequency of several PIG-A mutations in patients with aplastic anemia and myelodysplastic syndrome. (16467865)
2006
32
Successful treatment with allogeneic peripheral blood stem cell transplantation and granulocyte transfusion for severe aplastic anemia with sinusitis. (16623820)
2006
33
Severe aplastic anemia associated with paroxysmal nocturnal hemoglobinuria and lymphoplasmacytic lymphoma. (16085570)
2005
34
CD5- CD11c+ CD23- small lymphocytic lymphoma evolving from aplastic anemia]. (15387287)
2004
35
Treatment of severe aplastic anemia with antilymphocyte globulin, cyclosporine and two different granulocyte colony-stimulating factor regimens: a GITMO prospective randomized study. (15377466)
2004
36
Severe aplastic anemia associated with hepatitis and complicated by pulmonary aspergillosis: response to immune suppression and antifungal therapy. (12194507)
2002
37
Increased frequencies of glutathione S-transferase (GSTM1 and GSTT1) gene deletions in Korean patients with acquired aplastic anemia. (11719393)
2001
38
Aplastic anemia and paroxysmal nocturnal hemoglobinuria: a follow-up study of the glycosylphosphatidylinositol-anchored proteins defect. (11920198)
2000
39
Philadelphia chromosome positive acute lymphocytic leukemia arising from aplastic anemia. (10679810)
2000
40
Paroxysmal nocturnal hemoglobinuria and its association with aplastic anemia]. (9748736)
1998
41
Mesalazine-associated severe aplastic anemia successfully treated with antithymocyte globulin, cyclosporine and granulocyte colony-stimulating factor. (9885444)
1998
42
Sequential development of myelodysplasia and paroxysmal nocturnal hemoglobinuria in a patient with preceding aplastic anemia. (9071825)
1997
43
Impaired hematopoiesis in paroxysmal nocturnal hemoglobinuria/aplastic anemia is not associated with a selective proliferative defect in the glycosylphosphatidylinositol-anchored protein-deficient clone. (9028939)
1997
44
Successful engraftment after primary graft failure in aplastic anemia using G-CSF mobilized peripheral stem cell transfusions. (9116616)
1997
45
Analysis of PIG-A gene in a patient who developed reciprocal translocation of chromosome 12 and paroxysmal nocturnal hemoglobinuria during follow-up of aplastic anemia. (8619404)
1996
46
Aplastic anemia: evidence for dysfunctional bone marrow progenitor cells and the corrective effect of granulocyte colony-stimulating factor in vitro. (8605332)
1996
47
Aplastic anemia and pure red cell aplasia. (9371275)
1994
48
Combination therapy with rhGM-CSF and rhEpo for two patients with refractory anemia and aplastic anemia. (8244908)
1993
49
Collection of peripheral blood hematopoietic progenitors (PBHP) from patients with severe aplastic anemia (SAA) after prolonged administration of granulocyte colony-stimulating factor. (7689868)
1993
50
Acquired myeloperoxidase deficiency of neutrophils in a patient with aplastic anemia (idiopathic marrow aplasia). (2844051)
1988

Genetic Variations for Aplastic Anemia

Expression for genes affiliated with Aplastic Anemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Aplastic Anemia

Search GEO for disease gene expression data for Aplastic Anemia.

Pathways for genes affiliated with Aplastic Anemia

Sources:
52QIAGEN, 30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 54Reactome, 4Cell Signaling Technology
See all sources

Pathways related to Aplastic Anemia according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.7IFNG, CSF2RA, CSF2, CSF3, FLT3LG, EPO
210.7THPO, CSF2RA, CSF2, CSF3, FLT3LG, EPO
310.6IFNG, CSF2RA, CSF2, CSF3, EPO, IL3
4
Hide members
10.6CSF2RA, CSF2, CSF3, IL3, KITLG, THPO
5
Hide members
10.6CSF2RA, CSF2, CSF3, IL3, KITLG, THPO
6
Hide members
10.6IFNG, CSF2, PRF1, IL3
7
Hide members
10.6IFNG, CSF2, TBX21, IL3
8
Hide members
10.6IL3, CSF2, CSF2RA, IFNG
910.6GATA2, TBX21, IL3, KITLG
1010.6GAR1, DKC1, SBDS, NOP10
1110.6IFNG, PRF1, TBX21
1210.6TERT, DKC1, IFNG
1310.6IFNG, CSF2, TBX21
1410.6TERT, EPO, GATA2
15
Hide members
10.6IL3, CSF2, CSF2RA
16
Hide members
10.6THPO, CSF2, CSF2RA
1710.5TERT, DKC1
18
Hide members
10.5THPO

Compounds for genes affiliated with Aplastic Anemia

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 29IUPHAR, 2BitterDB
See all sources

Compounds related to Aplastic Anemia according to GeneCards/GeneDecks:

(show top 50)    (show all 108)
idCompoundScoreTop Affiliating Genes
1methylcellulose4511.2IFNG, THPO, KITLG, IL3, EPO, FLT3LG
2thymidine45 2412.2IFNG, CSF3, CSF2, TERC, TERT, FLT3LG
35fluorouracil4511.1IFNG, CSF2, CSF3, IL3, KITLG, THPO
4pixy3214511.1THPO, EPO, IL3, KITLG, FLT3LG, CSF3
5retinoic acid45 2412.1TERC, IL3, GATA2, CSF2, TERT, THPO
6zidovudine45 1112.1TERT, CSF3, KITLG, IL3, EPO, CSF2
7carboplatin45 50 1113.1IFNG, CSF2, KITLG, THPO, IL3, CSF3
8gp 1304511.1KITLG, CSF2RA, IL3, EPO, CSF2, CSF3
9hydroxyurea45 50 1113.1EPO, IL3, GATA2, CSF2, KITLG, THPO
10amifostine45 1112.1CSF2, CSF3, EPO, IL3, KITLG, THPO
11filgrastim45 1112.1THPO, KITLG, CSF2, CSF3, EPO, IL3
12cytarabine45 50 1113.0IL3, KITLG, THPO, CSF2, EPO, CSF3
13mafosfamide4511.0CSF2, THPO, CSF3, KITLG, IL3
145-aza-2deoxycytidine4511.0TERT, THPO, KITLG, EPO, IFNG, IL3
15calcitriol45 60 11 2414.0IL3, IFNG, CSF2, EPO, TERT, KITLG
16cyclophosphamide45 50 1113.0CSF2, KITLG, FLT3LG, PIGA, CSF3, IL3
17vegf4511.0CSF2, EPO, KITLG, THPO, IFNG, FLT3LG
18ribavirin45 50 1113.0IL3, IFNG, EPO, CSF3, CSF2
19agar4511.0CSF2, IL3, KITLG, PRF1, THPO, TERC
20cisplatin45 50 60 1114.0CSF2, CSF3, EPO, IL3, KITLG, TERT
21melphalan45 1112.0EPO, IL3, CSF3, IFNG, CSF2
22gm-csf45 2912.0CSF2RA, IFNG, THPO
23pegfilgrastim45 1112.0EPO, IL3, CSF3, CSF2
244-hydroperoxycyclophosphamide4511.0CSF2, CSF3, IL3, KITLG
25rantes4511.0CSF2, CSF3, IL3, THPO, KITLG, IFNG
26etoposide45 50 60 1114.0TERC, TERT, THPO, IL3, CSF3, CSF2
27butyrate4511.0CSF2, GATA2, THPO
28pseudouridine45 2412.0GAR1, DKC1, NOP10, TERC
29daniplestim4510.9KITLG, CSF3, IL3
30carboxymethylcellulose4510.9EPO, CSF3, KITLG
31molgramostim4510.9IL3, CSF3, CSF2
32ifosfamide45 1111.9CSF3, CSF2, THPO, IL3
33rapamycin4510.9IFNG, EPO, IL3, KITLG, THPO, TERT
34mesna4510.9CSF2, IL3, CSF3
35leucovorin45 50 1112.9THPO, CSF3, CSF2, IL3
36thiotepa45 50 1112.9IL3, CSF2, CSF3
37hydrocortisone45 2 60 1113.9EPO, KITLG
38mycophenolate mofetil45 50 1112.8IFNG, CSF3, IL3, EPO
39il 114510.8CSF3, EPO, IL3
40doxorubicin45 50 1112.8TERC, TERT, IL3, CSF3, CSF2, KITLG
41imatinib45 50 1112.8EPO, IL3, THPO, CSF3, KITLG
42ara-ctp4510.8CSF3, IL3, CSF2
43cycloheximide4510.8GATA2
44anagrelide45 1111.8EPO, CSF2, THPO
45dmso4510.7TERC, CSF2, CSF3, KITLG, THPO
46lenalidomide45 1111.7CSF3, EPO, IL3
47genistein45 29 60 2 11 2415.7KITLG, IL3, CSF2, IFNG, THPO, TERT
48cyclosporin a45 29 6012.6IFNG, KITLG, CSF2, EPO, IL3, CSF3
49ganciclovir45 1111.5TERT, KITLG, CSF3, CSF2
50daunorubicin45 50 1112.3IL3, CSF3, KITLG, CSF2

GO Terms for genes affiliated with Aplastic Anemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Aplastic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00561510.7THPO, KITLG, IL3, EPO, FLT3LG, CSF3
2extracellular regionGO:00557610.7CSF2RA, CSF2, PRF1, EPO, IL3, KITLG
3Cajal bodyGO:01503010.4GAR1, DKC1, NOP10
4telomerase holoenzyme complexGO:00569710.2TERT, DKC1

Biological processes related to Aplastic Anemia according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of DNA replicationGO:04574010.8KITLG, IL3, EPO, CSF2
2pseudouridine synthesisGO:00152210.8NOP10, DKC1, GAR1
3positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.8CSF2, EPO, IL3
4rRNA processingGO:00636410.8NOP10, SBDS, DKC1, GAR1
5embryonic hemopoiesisGO:03516210.8KITLG, IL3, FLT3LG
6positive regulation of cell proliferationGO:00828410.7IL3, EPO, FLT3LG, CSF3, CSF2
7positive regulation of interleukin-23 productionGO:03274710.7IFNG, CSF2
8positive regulation of isotype switching to IgG isotypesGO:04830410.6TBX21, IFNG
9positive regulation of peptidyl-tyrosine phosphorylationGO:05073110.6CSF3, IL3, KITLG
10positive regulation of Ras protein signal transductionGO:04657910.5KITLG, EPO
11cellular response to lipopolysaccharideGO:07122210.5CSF3, CSF2, IFNG
12telomere maintenance via telomeraseGO:00700410.2TERT, DKC1

Molecular functions related to Aplastic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00512510.6THPO, KITLG, IL3, FLT3LG, CSF3, CSF2
2telomerase activityGO:00372010.5TERT, DKC1
3growth factor activityGO:00808310.3CSF2, CSF3, IL3, KITLG, THPO

Products for genes affiliated with Aplastic Anemia

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Sources for Aplastic Anemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet