KEGG   DISEASE: Joint contracture, osteochondromas, and B-cell lymphoma
Entry
H02664                      Disease                                
Name
Joint contracture, osteochondromas, and B-cell lymphoma
Description
Joint contracture, osteochondromas, and B-cell lymphoma (JCOSL) is caused by complete deficiency of nuclear factor of activated T cells 1 (NFAT1). NFAT1 is encoded by NFATC2, and mediates calcium-calcineurin signals that drive cell activation, proliferation, and survival.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Mature B-cell neoplasms
    2A86  B-cell lymphoma, mixed features
     H02664  Joint contracture, osteochondromas, and B-cell lymphoma
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06535  Efferocytosis
   H02664  Joint contracture, osteochondromas, and B-cell lymphoma
Network
nt06535 Efferocytosis
Gene
NFATC2 [HSA:4773] [KO:K17332]
Other DBs
ICD-11: 2A86
ICD-10: C85.7
OMIM: 620232
Reference
PMID:35789258
  Authors
Sharma M, Fu MP, Lu HY, Sharma AA, Modi BP, Michalski C, Lin S, Dalmann J, Salman A, Del Bel KL, Waqas M, Terry J, Setiadi A, Lavoie PM, Wasserman WW, Mwenifumbo J, Kobor MS, Lee AF, Kuchenbauer F, Lehman A, Cheng S, Cooper A, Patel MS, Turvey SE
  Title
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
  Journal
Blood 140:1858-1874 (2022)
DOI:10.1182/blood.2022015674
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