KEGG   DISEASE: Graves disease
Entry
H00082                      Disease                                
Name
Graves disease
Description
Graves disease is a common form of chronic autoimmune thyroid disease (AITD), and is characterized by overstimulation of the thyroid gland with agonistic anti-thyrotropin (TSH) receptor autoantibodies. This overstimulation leads to follicular hypertrophy and hyperplasia, causing thyroid enlargement, as well as increases in thyroid hormone production and the fraction of triiodothyronine (T3) relative to thyroxine (T4) in thyroid secretion. Thyroid autoimmune diseases are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility loci for AITD, namely case control candidate gene studies and genome-wide linkage screens. Case control candidate gene studies have been employed to investigate numerous genes for association with AITD, but to date, only the human leucocyte region (HLA) on chromosome 6p21 and the cytotoxic T lymphocyte associated 4 (CTLA-4) gene on chromosome 2q33 have been consistently shown to be associated with disease.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Allergies and autoimmune diseases
   H00082  Graves disease
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the thyroid gland or thyroid hormones system
    5A02  Thyrotoxicosis
     H00082  Graves disease
Pathway
hsa05320  Autoimmune thyroid disease
Related
pathway
hsa04514  Cell adhesion molecules
hsa04640  Hematopoietic cell lineage
Gene
HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
CTLA-4 (polymorphism) [HSA:1493] [KO:K06538]
Pathogen
Yersinia enterocolitica
Drug
Propylthiouracil [DR:D00562]
Methimazole [DR:D00401]
Comment
Autoantigen: TSH-R [HSA:7253]
Other DBs
ICD-11: 5A02.0
ICD-10: E05.0
MeSH: D006111
Reference
  Authors
Fountoulakis S, Tsatsoulis A.
  Title
On the pathogenesis of autoimmune thyroid disease: a unifying hypothesis.
  Journal
Clin Endocrinol (Oxf) 60:397-409 (2004)
DOI:10.1046/j.1365-2265.2004.01978.x
Reference
  Authors
Simmonds MJ, Gough SC.
  Title
Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond.
  Journal
Clin Exp Immunol 136:1-10 (2004)
DOI:10.1111/j.1365-2249.2004.02424.x
Reference
  Authors
Ai J, Leonhardt JM, Heymann WR.
  Title
Autoimmune thyroid diseases: etiology, pathogenesis, and dermatologic manifestations.
  Journal
J Am Acad Dermatol 48:641-59; quiz 660-2 (2003)
DOI:10.1067/mjd.2003.257
Reference
  Authors
Prummel MF, Strieder T, Wiersinga WM.
  Title
The environment and autoimmune thyroid diseases.
  Journal
Eur J Endocrinol 150:605-18 (2004)
DOI:10.1530/eje.0.1500605
Reference
  Authors
Brent GA.
  Title
Clinical practice. Graves' disease.
  Journal
N Engl J Med 358:2594-605 (2008)
DOI:10.1056/NEJMcp0801880
Reference
  Authors
Reid JR, Wheeler SF.
  Title
Hyperthyroidism: diagnosis and treatment.
  Journal
Am Fam Physician 72:623-30 (2005)
Reference
  Authors
Ruwhof C, Drexhage HA.
  Title
Iodine and thyroid autoimmune disease in animal models.
  Journal
Thyroid 11:427-36 (2001)
DOI:10.1089/105072501300176381
Reference
  Authors
Scofield RH.
  Title
Autoantibodies as predictors of disease.
  Journal
Lancet 363:1544-6 (2004)
DOI:10.1016/S0140-6736(04)16154-0
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