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
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.
