| H00082 | |
| H number | H00082 |
| 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 DIS_PATHWAY hsa05320 Autoimmune thyroid disease |
| Network | - |
| 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 |
| Env factor | - |
| Carcinogen | - |
| 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 | PMID:15049952 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 PMID:15030506 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 PMID:12734493 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 PMID:15132715 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 PMID:18550875 AUTHORS Brent GA. TITLE Clinical practice. Graves' disease. JOURNAL N Engl J Med 358:2594-605 (2008) DOI:10.1056/NEJMcp0801880 PMID:16127951 AUTHORS Reid JR, Wheeler SF. TITLE Hyperthyroidism: diagnosis and treatment. JOURNAL Am Fam Physician 72:623-30 (2005) PMID:11396701 AUTHORS Ruwhof C, Drexhage HA. TITLE Iodine and thyroid autoimmune disease in animal models. JOURNAL Thyroid 11:427-36 (2001) DOI:10.1089/105072501300176381 PMID:15135604 AUTHORS Scofield RH. TITLE Autoantibodies as predictors of disease. JOURNAL Lancet 363:1544-6 (2004) DOI:10.1016/S0140-6736(04)16154-0 |