KEGG   DISEASE: 若年性骨髄単球性白血病
エントリ  
H02541                                                             
名称    
若年性骨髄単球性白血病
概要    
Juvenile myelomonocytic leukemia (JMML) is a rare clonal hematopoietic disorder of early childhood with features characteristic of both myelodysplastic and myeloproliferative disorders. Recent studies have shown that abnormal proliferation is due to aberrant signal transduction resulting from mutations in components of the RAS-signaling pathway.
カテゴリ  
がん
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  造血またはリンパ組織の腫瘍
   骨髄異形成及び骨髄増殖性腫瘍
    2A42  若年性骨髄単球性白血病
     H02541  若年性骨髄単球性白血病
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06526  MAPK シグナリング
   H02541  若年性骨髄単球性白血病
パスウェイ 
hsa04010  MAPK signaling pathway
hsa04014  Ras signaling pathway
ネットワーク
nt06526 MAPK signaling
病因遺伝子 
PTPN11 [HSA:5781] [KO:K07293]
ARHGAP26 [HSA:23092] [KO:K20071]
CBL [HSA:867] [KO:K04707]
NF1 [HSA:4763] [KO:K08052]
NRAS [HSA:4893] [KO:K07828]
KRAS [HSA:3845] [KO:K07827]
リンク   
ICD-11: 2A42
MeSH: D054429
OMIM: 607785
文献    
  著者
Niemeyer CM
  タイトル
JMML genomics and decisions.
  雑誌
Hematology Am Soc Hematol Educ Program 2018:307-312 (2018)
DOI:10.1182/asheducation-2018.1.307
文献    
  著者
Proytcheva M
  タイトル
Juvenile myelomonocytic leukemia.
  雑誌
Semin Diagn Pathol 28:298-303 (2011)
DOI:10.1053/j.semdp.2011.08.007
文献    
  著者
Borkhardt A, Bojesen S, Haas OA, Fuchs U, Bartelheimer D, Loncarevic IF, Bohle RM, Harbott J, Repp R, Jaeger U, Viehmann S, Henn T, Korth P, Scharr D, Lampert F
  タイトル
The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q.
  雑誌
Proc Natl Acad Sci U S A 97:9168-73 (2000)
DOI:10.1073/pnas.150079597
LinkDB    

» English version

DBGET integrated database retrieval system