H01186 | |
H number | H01186 |
Name | Abnormal thyroid hormone metabolism |
Description | Abnormal thyroid hormone metabolism (THMA) is a disorder associated with an inherited selenocysteine (Sec) incorporation defect, caused by mutations in SECISBP2 (also called SBP2). Because SBP2 is epistatic to selenoprotein synthesis, these defects have a generalized effect on selenoproteins. |
Category | Endocrine and metabolic disease |
Network | - |
Gene | (THMA1) SECISBP2 [HSA:79048] [KO:K19539] (THMA2) DIO1 [HSA:1733] [KO:K01562] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5A00.0 ICD-10: E03.8 MeSH: C566454 OMIM: 619855 609698 |
Reference | PMID:16228000 (SECISBP2) AUTHORS Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S TITLE Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. JOURNAL Nat Genet 37:1247-52 (2005) DOI:10.1038/ng1654 PMID:32718224 (DIO1) AUTHORS Franca MM, German A, Fernandes GW, Liao XH, Bianco AC, Refetoff S, Dumitrescu AM TITLE Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. JOURNAL Thyroid 31:202-207 (2021) DOI:10.1089/thy.2020.0253 |