KEGG   DISEASE: Abnormal thyroid hormone metabolism
Entry
H01186                      Disease                                
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
Brite
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
    5A00  Hypothyroidism
     H01186  Abnormal thyroid hormone metabolism
Pathway
hsa04919  Thyroid hormone signaling pathway
Gene
(THMA1) SECISBP2 [HSA:79048] [KO:K19539]
(THMA2) DIO1 [HSA:1733] [KO:K01562]
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
Reference
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
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