MCID: MYL009
MIFTS: 75

Myelodysplastic Syndrome malady

Genetic diseases, Rare diseases, Cancer diseases categories

Summaries for Myelodysplastic Syndrome

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MedlinePlus:34 Your bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. it contains immature cells, called stem cells. the stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. if you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. many of them die in the bone marrow. this means that you do not have enough healthy cells, which can lead to infection, anemia, or easy bleeding. myelodysplastic syndromes often do not cause early symptoms and are sometimes found during a routine blood test. if you have symptoms, they may include shortness of breath weakness or feeling tired skin that is paler than usual easy bruising or bleeding pinpoint spots under the skin caused by bleeding fever or frequent infections myelodysplastic syndromes are rare. people at higher risk are over 60, have had chemotherapy or radiation therapy, or have been exposed to certain chemicals. treatment options include transfusions, drug therapy, chemotherapy, and blood or bone marrow stem cell transplants. nih: national cancer institute

MalaCards based summary: Myelodysplastic Syndrome, also known as myelodysplastic syndromes, is related to leukemia and myeloid leukemia, and has symptoms including somatic mutationand myelodysplasia. An important gene associated with Myelodysplastic Syndrome is ACSL6 (acyl-CoA synthetase long-chain family member 6), and among its related pathways is Lymphocyte Signaling. The compounds teniposide and zinc have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and bone marrow, and related mouse phenotypes are skeleton and cellular.

Disease Ontology:10 A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.

NIH Rare Diseases:43 Myelodysplastic syndromes (mds) are a rare group of blood disorders characterized by abnormal development of blood cells within the bone marrow. individuals with mds have abnormally low blood cell levels (low blood counts). signs and symptoms associated with mds include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches. in some cases, mds may progress to bone marrow failure or an acute leukemia. the exact cause of mds is unknown. it sometimes runs in families, but no disease-causing gene has been identified. treatment depends on the affected individual's age, general health, and type of mds and may include red cell and/or platelet transfusions and antibiotics. last updated: 3/23/2012

OMIM:47 Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by... (614286) more...

Wikipedia:65 The myelodysplastic syndromes (also known as MDS or myelodysplasia) are hematological (i.e.,... more...

Aliases & Classifications for Myelodysplastic Syndrome

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Myelodysplastic Syndrome, Aliases & Descriptions:

Name: Myelodysplastic Syndrome 47 10 32
Myelodysplastic Syndromes 32 43 45 24 34
 
Myelodysplastic Syndrome, Somatic 47 11
Mds 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases


External Ids:

OMIM47 614286
Disease Ontology10 DOID:0050908
MeSH35 D009190
ICD1027 D46, D46.6, D46.9

Related Diseases for Myelodysplastic Syndrome

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Diseases related to Myelodysplastic Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 359)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia31.9TET2, TEC, MLF1, NUP214, KMT2A, IRF1
2myeloid leukemia31.7MLF1, PURA, KMT2A, IRF1, MECOM, CSF3
3aplastic anemia31.2GATA2, CSF3
4acute leukemia31.1GATA2, CSF3, IRF1, KMT2A, MLF1
5myelofibrosis30.8ASXL1, TET2
6pancytopenia30.8CSF3, KMT2A
7thrombocytosis30.6TET2, ASXL1, CSF3
8chronic neutrophilic leukemia30.4KMT2A, CSF3
9polycythemia vera30.2TET2, ASXL1
10refractory anemia10.8
11chronic myelomonocytic leukemia10.8
12hematopoietic stem cell transplantation10.6
13muscular dystrophy10.6
14relapsing polychondritis10.6
15paroxysmal nocturnal hemoglobinuria10.5
16hemoglobinuria10.5
17myeloma10.5
18pyoderma10.5
19thrombocytopenia10.5
20pyoderma gangrenosum10.5
21pulmonary alveolar proteinosis10.5
22lymphoblastic leukemia10.5
23multiple myeloma10.4
24thalassemia10.4
25pure red-cell aplasia10.4
26refractory anemia with excess blasts10.4
27breast cancer10.4
28neutropenia10.4
29alpha-thalassemia - myelodysplastic syndrome10.4
30hemochromatosis10.3
31eosinophilia10.3
32sarcoma10.3
33endotheliitis10.3
34wilms tumor10.3
35macrocytic anemia, refractory, due to 5q deletion, somatic10.3
36hemolytic anemia10.3
37hepatitis10.3
38sideroblastic anemia10.3
39unclassified myelodysplastic syndrome10.3
40chronic leukemia10.3
41pernicious anemia10.3
42dermatitis10.3
43histiocytosis10.3
44panniculitis10.3
45pneumonia10.3
46purpura10.3
47vasculitis10.3
48acute myelomonocytic leukemia10.3
49acute non lymphoblastic leukemia10.3
50blindness10.3

Graphical network of the top 20 diseases related to Myelodysplastic Syndrome:



Diseases related to myelodysplastic syndrome

Symptoms for Myelodysplastic Syndrome

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Clinical features from OMIM:

614286

HPO human phenotypes related to Myelodysplastic Syndrome:

id Description Frequency HPO Source Accession
1 somatic mutation HP:0001428
2 myelodysplasia HP:0002863

Drugs & Therapeutics for Myelodysplastic Syndrome

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Genetic Tests for Myelodysplastic Syndrome

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Genetic tests related to Myelodysplastic Syndrome:

id Genetic test Affiliating Genes
1 Myelodysplastic Syndrome24

Anatomical Context for Myelodysplastic Syndrome

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MalaCards organs/tissues related to Myelodysplastic Syndrome:

33
Bone, Myeloid, Bone marrow, Testes, Skin, Neutrophil, T cells, Monocytes, Breast, Lung, Endothelial, Liver, B cells, Spleen, Brain, Spinal cord, Heart, Colon, Kidney, Thyroid, Ovary, Prostate, Nk cells

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Myelodysplastic Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 PlacentaChorionic VillusChorionic Mesenchymal Stromal Cells Potential therapeutic candidate
2 BloodCord BloodMesenchymal Stem Cells Potential therapeutic candidate
3 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate

Animal Models for Myelodysplastic Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Myelodysplastic Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.8SF3B1, IRF1, ASXL1, PRDM16, MECOM, KMT2A
2MP:00053849.6KMT2A, IRF1, GATA2, RPL22, MECOM, ASXL1
3MP:00053679.5TET2, IRF1, KMT2A, GATA2, CSF3, RPL22
4MP:00053879.4RPL22, MECOM, PRDM16, ASXL1, IRF1, KMT2A
5MP:00053979.4TEC, TET2, GATA2, CSF3, RPL22, PRDM16
6MP:00107689.4ASXL1, PRDM16, MECOM, GATA2, KMT2A, NUP214

Publications for Myelodysplastic Syndrome

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Articles related to Myelodysplastic Syndrome:

(show top 50)    (show all 1911)
idTitleAuthorsYear
1
Biological activities of RUNX1 mutants predict secondary acute leukemia transformation from chronic myelomonocytic leukemia and myelodysplastic syndromes. (25840971)
2015
2
Patient-reported outcomes for the myelodysplastic syndromes: a new MDS-specific measure of quality of life. (24434998)
2014
3
Positive impact of chronic graft-versus-host disease on the outcome of patients with de novo myelodysplastic syndrome after allogeneic hematopoietic cell transplantation: a single-center analysis of 115 patients. (24127668)
2013
4
NRAS mutations with low allele burden have independent prognostic significance for patients with lower risk myelodysplastic syndromes. (23708912)
2013
5
Iron overload impairs proliferation of erythroid progenitors cells (BFU-E) from patients with myelodysplastic syndromes. (23259989)
2013
6
Fatal Nocardia farcinica Bacteremia Diagnosed by Matrix-Assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry in a Patient with Myelodysplastic Syndrome Treated with Corticosteroids. (23690786)
2013
7
Evolution of chronic myelomonocytic leukemia from refractory anemia: the unusual course of a myelodysplastic syndrome. (23826588)
2013
8
Prognostic impact of the number of methylated genes in myelodysplastic syndromes and acute myeloid leukemias treated with azacytidine. (23740492)
2013
9
Arsenic disulfide-triggered apoptosis and erythroid differentiation in myelodysplastic syndrome and acute myeloid leukemia cell lines. (24192507)
2013
10
Localization of the NRAS:BCL-2 complex determines anti-apoptotic features associated with progressive disease in myelodysplastic syndromes. (23153525)
2013
11
Large-vessel thrombosis in intestinal BehAset's disease complicated with myelodysplastic syndrome and trisomy 8. (22416191)
2012
12
Does addition of erythropoiesis stimulating agents improve the outcome of higher-risk myelodysplastic syndromes treated with azacitidine? (22177456)
2012
13
Evaluation of flow cytometric assessment of myeloid nuclear differentiation antigen expression as a diagnostic marker for myelodysplastic syndromes in a series of 269 patients. (22508616)
2012
14
Characterization of NPM1-mutated AML with a history of myelodysplastic syndromes or myeloproliferative neoplasms. (21233837)
2011
15
Myelodysplastic syndromes. (22118747)
2011
16
Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromes. (22200086)
2011
17
Possible role of engraftment syndrome and autologous graft-versus-host disease in myelodysplastic syndrome after autologous stem cell transplantations: retrospective analysis and review of the literature. (20371446)
2010
18
Single nucleotide polymorphisms in the human TNF gene are associated with anaemia and neutropenia in a cohort of patients with de novo myelodysplastic syndrome. (20618340)
2010
19
Mutation analysis of the HAX1 gene in childhood myelodysplastic syndrome. (19298594)
2009
20
Update on genetic and molecular markers associated with myelodysplastic syndromes. (19263296)
2009
21
Expression of cyclin A1 mRNA in patients with myelodysplastic syndrome and its clinical significance]. (19379570)
2009
22
Predictive factors of response and survival in myelodysplastic syndrome treated with erythropoietin and G-CSF: the GFM experience. (17940203)
2008
23
Prospective tracing of MLL-FRYL clone with low MEIS1 expression from emergence during neuroblastoma treatment to diagnosis of myelodysplastic syndrome. (18195096)
2008
24
Aberrant pre-mRNA splicing of a highly conserved cell cycle regulator, CDC25C, in myelodysplastic syndromes. (18464119)
2008
25
Methylation status of fragile histidine triad (FHIT) gene and its clinical impact on prognosis of patients with myelodysplastic syndrome. (18367246)
2008
26
GATA-1 transcription factor is up-regulated in bone marrow hematopoietic progenitor CD34(+) and erythroid CD71(+) cells in myelodysplastic syndromes. (17570514)
2007
27
A comparative study of molecular mutations in 381 patients with myelodysplastic syndrome and in 4130 patients with acute myeloid leukemia. (17550846)
2007
28
A case of myelodysplastic syndrome complicated with organizing pneumonia]. (17233390)
2006
29
WT1 gene expression lowered by IL-12 In vitro in peripheral blood mononuclear cells from patients with leukemia or myelodysplastic syndromes. (16800930)
2006
30
Serum evaluation of angiogenic cytokine basic fibroblast growth factor, hepatocyte growth factor and TNF-alpha in patients with myelodysplastic syndromes: correlation with bone marrow microvascular density. (15888251)
2005
31
Acute myeloid leukemia cell lines MOLM-17 and MOLM-18 derived from patient with advanced myelodysplastic syndromes. (15863212)
2005
32
The geldanamycin derivative 17-AAG decreases VEGF secretion and leukemia growth support by trisomy 8 myelodysplastic syndrome bone marrow stromal cells. (15804996)
2005
33
Hypochromic red blood cells in low-risk myelodysplastic syndromes: effects of treatment with hemopoietic growth factors. (15590394)
2004
34
Survivin expression in acute leukemias and myelodysplastic syndromes. (15512811)
2004
35
Cord blood transplantation supported with ex vivo expanded fraction for a patient with myelodysplastic syndrome and metastatic breast cancer]. (15510834)
2004
36
Gene expression profiling in the myelodysplastic syndromes using cDNA microarray technology. (15147372)
2004
37
Expression of TNF receptors and related signaling molecules in the bone marrow from patients with myelodysplastic syndromes. (12681357)
2003
38
Efficacy and toxicity of low-dose melphalan in myelodysplastic syndromes and acute myeloid leukemia with multilineage dysplasia. (12937849)
2003
39
Secondary pulmonary alveolar proteinosis associated with myelodysplastic syndrome. (12636240)
2003
40
Expression of the anti-apoptotic gene survivin in myelodysplastic syndrome. (12469185)
2003
41
Mutations in the gene encoding the transcription factor CCAAT/enhancer binding protein alpha in myelodysplastic syndromes and acute myeloid leukemias. (11830484)
2002
42
Cellular abundance of es nucleoside transporters and differential drug toxicity in myelodysplastic syndrome (MDS) bone marrow cell subpopulations. (11794010)
2001
43
An elderly patient with myelodysplastic syndrome successfully treated with combination of granulocyte-colony stimulating factor and continuous-drip infusion of low-dose cytarabine and etoposide]. (10774251)
2000
44
Expression of the multidrug resistance-associated protein in myelodysplastic syndromes. (10997969)
2000
45
Treatment of patients with low-risk myelodysplastic syndromes using a combination of all-trans retinoic acid, interferon alpha, and granulocyte colony-stimulating factor. (10211754)
1999
46
Molecular heterogeneity of the NUP98/HOXA9 fusion transcript in myelodysplastic syndromes associated with t(7;11)(p15;p15). (10583265)
1999
47
Hemoglobin F in myelodysplastic syndrome. (9619730)
1998
48
Treatment with cytosine arabinoside and granulocyte colony-stimulating factor in patients with myelodysplastic syndrome and its leukemic phase. (7532031)
1994
49
Response of hematopoietic precursor cells to hematopoietic growth factors in the myelodysplastic syndromes. (2099409)
1990
50
Translocation t(6;9)(p22.3;q34) in myelodysplastic syndrome--refractory anemia with excess blasts. (3664444)
1987

Variations for Myelodysplastic Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Myelodysplastic Syndrome:

64
id Symbol AA change Variation ID SNP ID
1GATA2p.Thr354MetVAR_066406
2SETBP1p.Asp868AsnVAR_063807
3SETBP1p.Gly870SerVAR_063809
4SETBP1p.Ser869AsnVAR_069852
5SETBP1p.Thr873ArgVAR_069857

Clinvar genetic disease variations for Myelodysplastic Syndrome:

7
id Gene Variation Type Significance SNP ID Assembly Location
1GATA2NM_001145661.1(GATA2): c.1061C> T (p.Thr354Met)single nucleotide variantPathogenic, risk factorrs387906631GRCh37Chr 3, 128200744: 128200744
2GATA2GATA2, 3-BP DEL, 1063ACAdeletionrisk factor
3MT-TL1m.3242G> Asingle nucleotide variantPathogenicrs199474668GRCh37Chr MT, 3242: 3242

Expression for genes affiliated with Myelodysplastic Syndrome

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Search GEO for disease gene expression data for Myelodysplastic Syndrome.

Pathways for genes affiliated with Myelodysplastic Syndrome

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Pathways related to Myelodysplastic Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2GATA2, MECOM, TEC

Compounds for genes affiliated with Myelodysplastic Syndrome

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Sources:
45Novoseek, 13DrugBank, 26HMDB
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Compounds related to Myelodysplastic Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1teniposide45 1311.2CSF3, KMT2A
2zinc45 2610.6GATA2, MECOM, PRDM16, IRF1, KMT2A

GO Terms for genes affiliated with Myelodysplastic Syndrome

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Cellular components related to Myelodysplastic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA replication factor A complexGO:000566210.3PURA, PURB
2nucleusGO:00056348.9GATA2, MLF1, SF3B1, PURB, PURA, NUP214

Biological processes related to Myelodysplastic Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1histone H3-K4 trimethylationGO:008018210.4TET2, KMT2A
2regulation of cell cycleGO:005172610.3MECOM, IRF1, NUP214
3negative regulation of fat cell differentiationGO:004559910.2ASXL1, GATA2
4cytokine-mediated signaling pathwayGO:001922110.1CSF3, IRF1, NUP214
5negative regulation of transcription, DNA-templatedGO:004589210.1MECOM, PRDM16, IRF1, PURB, PURA
6positive regulation of transcription, DNA-templatedGO:004589310.1MECOM, PRDM16, IRF1, KMT2A
7somatic stem cell maintenanceGO:003501910.0GATA2, PRDM16
8positive regulation of transcription from RNA polymerase II promoterGO:00459449.9ASXL1, CSF3, IRF1, KMT2A, TET2, GATA2
9transcription, DNA-templatedGO:00063519.9GATA2, PURB, ASXL1, PRDM16, MECOM, MLF1

Molecular functions related to Myelodysplastic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:004633210.2PURB, PURA, PRDM16
2sequence-specific DNA binding transcription factor activityGO:00037009.9GATA2, MECOM, IRF1, KMT2A, PURB
3DNA bindingGO:00036779.6ASXL1, IRF1, SETBP1, MLF1, TET2, MECOM
4protein bindingGO:00055159.3ASXL1, IRF1, KMT2A, NUP214, PURA, SF3B1

Products for genes affiliated with Myelodysplastic Syndrome

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Sources for Myelodysplastic Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet