KEGG   DISEASE: Myelodysplastic syndrome
H01481                      Disease                                

Myelodysplastic syndrome
5q- syndrome [DS:H01484]
Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, and a risk of progression to acute myeloid leukemia. Currently, there are a few FDA-approved drugs for treatment of MDS none of which are curative. Allogeneic stem cell transplantation (ASCT) is the only curative therapy. But many MDS patients have been ineligible for transplants, since the median age at diagnosis for MDS is 75 years. Sequencing of MDS genomes has identified mutations in genes implicated in RNA splicing, DNA modification, chromatin regulation, and cell signaling.
Hematologic disease
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01481  Myelodysplastic syndrome
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Myelodysplastic syndromes
    2A36  Myelodysplastic syndrome with isolated del(5q)
     H01481  Myelodysplastic syndrome
    2A37  Myelodysplastic syndrome, unclassifiable
     H01481  Myelodysplastic syndrome
    2A3Z  Myelodysplastic syndromes, unspecified
     H01481  Myelodysplastic syndrome
TET2 [HSA:54790] [KO:K24309]
ASXL1 [HSA:171023] [KO:K11471]
DNMT3A [HSA:1788] [KO:K17398]
IDH1 [HSA:3417] [KO:K00031]
IDH2 [HSA:3418] [KO:K00031]
GATA2 [HSA:2624] [KO:K17894]
SF3B1 [HSA:23451] [KO:K12828]
SRSF2 [HSA:6427] [KO:K12891]
U2AF1 [HSA:7307] [KO:K12836]
ZRSR2 [HSA:8233] [KO:K24273]
RUNX1 [HSA:861] [KO:K08367]
TP53 [HSA:7157] [KO:K04451]
NRAS [HSA:4893] [KO:K07828]
JAK2 [HSA:3717] [KO:K04447]
Azacitidine [DR:D03021]
Decitabine [DR:D03665]
Decitabine and cedazuridine [DR:D11848]
Other DBs
ICD-11: 2A36 2A37 2A3Z
ICD-10: D46
MeSH: D009190
OMIM: 614286
Gangat N, Patnaik MM, Tefferi A
Myelodysplastic syndromes: Contemporary review and how we treat.
Am J Hematol 91:76-89 (2016)
Jang JH, Harada H, Shibayama H, Shimazaki R, Kim HJ, Sawada K, Mitani K
A randomized controlled trial comparing darbepoetin alfa doses in red blood cell transfusion-dependent patients with low- or intermediate-1 risk myelodysplastic syndromes.
Int J Hematol 102:401-12 (2015)
Thol F, Kade S, Schlarmann C, Loffeld P, Morgan M, Krauter J, Wlodarski MW, Kolking B, Wichmann M, Gorlich K, Gohring G, Bug G, Ottmann O, Niemeyer CM, Hofmann WK, Schlegelberger B, Ganser A, Heuser M
Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes.
Blood 119:3578-84 (2012)
Cazzola M, Della Porta MG, Malcovati L
The genetic basis of myelodysplasia and its clinical relevance.
Blood 122:4021-34 (2013)

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