KEGG   DISEASE: Systemic sclerosisHelp
Entry
H01492                      Disease                                

Name
Systemic sclerosis;
Systemic scleroderma
Description
Systemic sclerosis (scleroderma) is an autoimmune disease that is characterized by fibrosis of the skin and major internal organs. The core symptoms of this disease are Raynaud's phenomenon, skin thickening, Nail-fold capillary, and serum autoantibody production. Systemic sclerosis can manifest as either the diffuse or the limited variant, distinguished by the degree and the extent of cutaneous sclerosis. A highly variable clinical course exists that spans from mild and subtle findings to aggressive life-threatening multisystem disease. Anti-nuclear antibodies (ANA) are present in more than 90% of patients, and these ANA react against various intracellular components. However, one patient rarely has two or more types of ANA. The particular ANA types are often indicative of clinical features, disease course and overall severity. At present, there is no treatment that has been proven to modify the overall disease course, but therapy that targets specific organ involvement early before irreversible damage occurs does improve both quality of life and survival. Although the precise pathogenesis of this disease remains unknown, the consensus is that it is triggered in genetically-susceptible individuals by exposure to specific environmental agents.
Category
Immune system disease; Skin and connective tissue disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Allergies and autoimmune diseases
   H01492  Systemic sclerosis
 Skin diseases
  Skin and soft tissue diseases
   H01492  Systemic sclerosis
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Nonorgan specific systemic autoimmune disorders
   4A42  Systemic sclerosis
    H01492  Systemic sclerosis
BRITE hierarchy
Gene
HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
HLA-DPA1 (polymorphism) [HSA:3113] [KO:K06752]
HLA-DPB1 (polymorphism) [HSA:3115] [KO:K06752]
HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
STAT4 (polymorphism) [HSA:6775] [KO:K11222]
IRF5 (polymorphism) [HSA:3663] [KO:K09446]
CD247 (polymorphism) [HSA:919] [KO:K06453]
PTPN22 (polymorphism) [HSA:26191] [KO:K18024]
BANK1 (polymorphism) [HSA:55024]
TNFAIP3 (polymorphism) [HSA:7128] [KO:K11859]
TNIP1 (polymorphism) [HSA:10318] [KO:K23829]
TNFSF4 (polymorphism) [HSA:7292] [KO:K05469]
IL-1A (polymorphism) [HSA:3552] [KO:K04383]
IL-1B (polymorphism) [HSA:3553] [KO:K04519]
IL-1R1 (polymorphism) [HSA:3554] [KO:K04386]
CCR6 (polymorphism) [HSA:1235] [KO:K04181]
Comment
CREST syndrome is the limited cutaneous form of systemic sclerosis.
Other DBs
ICD-11: 4A42
ICD-10: M34
MeSH: D012595
OMIM: 181750
Reference
  Authors
Shah AA, Wigley FM
  Title
My approach to the treatment of scleroderma.
  Journal
Mayo Clin Proc 88:377-93 (2013)
DOI:10.1016/j.mayocp.2013.01.018
Reference
PMID:20175839 (marker)
  Authors
Hamaguchi Y
  Title
Autoantibody profiles in systemic sclerosis: predictive value for clinical evaluation and prognosis.
  Journal
J Dermatol 37:42-53 (2010)
DOI:10.1111/j.1346-8138.2009.00762.x
Reference
  Authors
Korman BD, Criswell LA
  Title
Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance.
  Journal
Curr Rheumatol Rep 17:21 (2015)
DOI:10.1007/s11926-014-0484-x
Reference
  Authors
Murdaca G, Contatore M, Gulli R, Mandich P, Puppo F
  Title
Genetic factors and systemic sclerosis.
  Journal
Autoimmun Rev 15:427-32 (2016)
DOI:10.1016/j.autrev.2016.01.016
Reference
PMID:19758208 (env_factor)
  Authors
Arnson Y, Amital H, Guiducci S, Matucci-Cerinic M, Valentini G, Barzilai O, Maya R, Shoenfeld Y
  Title
The role of infections in the immunopathogensis of systemic sclerosis--evidence from serological studies.
  Journal
Ann N Y Acad Sci 1173:627-32 (2009)
DOI:10.1111/j.1749-6632.2009.04808.x
Reference
PMID:21691743 (drug)
  Authors
Poormoghim H, Moradi Lakeh M, Mohammadipour M, Sodagari F, Toofaninjed N
  Title
Cyclophosphamide for scleroderma lung disease: a systematic review and meta-analysis.
  Journal
Rheumatol Int 32:2431-44 (2012)
DOI:10.1007/s00296-011-1967-y
Reference
PMID:25475597 (drug)
  Authors
Carlson DA, Hinchcliff M, Pandolfino JE
  Title
Advances in the evaluation and management of esophageal disease of systemic sclerosis.
  Journal
Curr Rheumatol Rep 17:475 (2015)
DOI:10.1007/s11926-014-0475-y
Reference
PMID:24387049 (drug)
  Authors
Murdaca G, Spano F, Puppo F
  Title
Current therapies for the treatment of systemic sclerosis-related pulmonary arterial hypertension: efficacy and safety.
  Journal
Expert Opin Drug Saf 13:295-305 (2014)
DOI:10.1517/14740338.2014.872238
Reference
PMID:21061100 (drug)
  Authors
Bussone G, Berezne A, Pestre V, Guillevin L, Mouthon L
  Title
The scleroderma kidney: progress in risk factors, therapy, and prevention.
  Journal
Curr Rheumatol Rep 13:37-43 (2011)
DOI:10.1007/s11926-010-0145-7
Reference
PMID:21184655 (drug)
  Authors
Shetty N, Derk CT
  Title
Endothelin receptor antagonists as disease modifiers in systemic sclerosis.
  Journal
Inflamm Allergy Drug Targets 10:19-26 (2011)
DOI:10.2174/187152811794352088
LinkDB All DBs

» Japanese version

DBGET integrated database retrieval system