KEGG   DISEASE: Intervertebral disc disease
Entry
H02539                      Disease                                
Name
Intervertebral disc disease
  Subgroup
Lumbar disc disease
Description
Intervertebral disc degeneration (IDD) is a common musculoskeletal disease associated with genetic factors.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 15 Diseases of the musculoskeletal system or connective tissue
  Conditions associated with the spine
   Degenerative condition of spine
    FA80  Intervertebral disc degeneration
     H02539  Intervertebral disc disease
Pathway-based classification of diseases [BR:br08402]
 Cellular processes
  nt06548  Integrin signaling
   H02539  Intervertebral disc disease
  nt06539  Cytoskeleton in muscle cells
   H02539  Intervertebral disc disease
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa04518  Integrin signaling
hsa04510  Focal adhesion
hsa04151  PI3K-Akt signaling pathway
hsa04512  ECM-receptor interaction
Network
nt06539 Cytoskeleton in muscle cells
nt06548 Integrin signaling
Gene
COL11A1 [HSA:1301] [KO:K19721]
COL9A3 [HSA:1299] [KO:K08131]
THBS2 [HSA:7058] [KO:K04659]
ASPN [HSA:54829] [KO:K08120]
CILP [HSA:8483] [KO:K24436]
Other DBs
ICD-11: FA80
MeSH: D055959
OMIM: 603932
Reference
  Authors
Huang D, Deng X, Ma K, Wu F, Shi D, Liang H, Chen S, Shao Z
  Title
Association of COL9A3 trp3 polymorphism with intervertebral disk degeneration: a meta-analysis.
  Journal
BMC Musculoskelet Disord 19:381 (2018)
DOI:10.1186/s12891-018-2297-y
Reference
  Authors
Mio F, Chiba K, Hirose Y, Kawaguchi Y, Mikami Y, Oya T, Mori M, Kamata M, Matsumoto M, Ozaki K, Tanaka T, Takahashi A, Kubo T, Kimura T, Toyama Y, Ikegawa S
  Title
A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.
  Journal
Am J Hum Genet 81:1271-7 (2007)
DOI:10.1086/522377
Reference
  Authors
Hirose Y, Chiba K, Karasugi T, Nakajima M, Kawaguchi Y, Mikami Y, Furuichi T, Mio F, Miyake A, Miyamoto T, Ozaki K, Takahashi A, Mizuta H, Kubo T, Kimura T, Tanaka T, Toyama Y, Ikegawa S
  Title
A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.
  Journal
Am J Hum Genet 82:1122-9 (2008)
DOI:10.1016/j.ajhg.2008.03.013
Reference
  Authors
Song YQ, Cheung KM, Ho DW, Poon SC, Chiba K, Kawaguchi Y, Hirose Y, Alini M, Grad S, Yee AF, Leong JC, Luk KD, Yip SP, Karppinen J, Cheah KS, Sham P, Ikegawa S, Chan D
  Title
Association of the asporin D14 allele with lumbar-disc degeneration in Asians.
  Journal
Am J Hum Genet 82:744-7 (2008)
DOI:10.1016/j.ajhg.2007.12.017
Reference
  Authors
Seki S, Kawaguchi Y, Chiba K, Mikami Y, Kizawa H, Oya T, Mio F, Mori M, Miyamoto Y, Masuda I, Tsunoda T, Kamata M, Kubo T, Toyama Y, Kimura T, Nakamura Y, Ikegawa S
  Title
A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.
  Journal
Nat Genet 37:607-12 (2005)
DOI:10.1038/ng1557
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