KEGG   DISEASE: Thyroid hormone resistance syndrome
Entry
H00249                      Disease                                

Name
Thyroid hormone resistance syndrome
  Subgroup
Generalized thyroid hormone resistance
Refetoff syndrome
Selective pituitary thyroid hormone resistance
Description
Thyroid hormone resistance syndrome, which inherits in either autosomal dominant or recessive manner, is characterized by reduced end-organ responsiveness to thyroid hormone. It is caused by mutations in the gene of thyroid hormone receptor and the locations of the mutations in the gene are associated with the phenotypes, such as generalized resistance, pituitary selective resistance.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Thyroid gland diseases
   H00249  Thyroid hormone resistance syndrome
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
     H00249  Thyroid hormone resistance syndrome
Pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04919  Thyroid hormone signaling pathway
Network
  Element
N00800  Mutation-inactivated THRB to thyroid hormone signaling pathway
Gene
THRB [HSA:7068] [KO:K08362]
Other DBs
ICD-11: 5A00.01
ICD-10: E07.8
MeSH: D018382 C564154
OMIM: 188570 274300 145650
Reference
  Authors
Olateju TO, Vanderpump MP
  Title
Thyroid hormone resistance.
  Journal
Ann Clin Biochem 43:431-40 (2006)
DOI:10.1258/000456306778904678
Reference
  Authors
Cheng SY
  Title
Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance.
  Journal
Trends Endocrinol Metab 16:176-82 (2005)
DOI:10.1016/j.tem.2005.03.008
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