KEGG   VARIANT: 7253v2
Entry
7253v2                      Variant                                
Name
TSHR activating mutation
Type
Gain of function
Gene
TSHR  thyroid stimulating hormone receptor [KO:K04249]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation F631L
ClinVar: 6433
dbSNP: rs121908861
Variation
mutation M453T
ClinVar: 6436
dbSNP: rs121908864
Variation
mutation S505N
ClinVar: 6450
dbSNP: rs121908876
Network
nt06322  TRH-TSH-TH signaling
Disease
H01269  Congenital hyperthyroidism
Reference
  Authors
Hebrant A, van Staveren WC, Maenhaut C, Dumont JE, Leclere J
  Title
Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.
  Journal
Eur J Endocrinol 164:1-9 (2011)
DOI:10.1530/EJE-10-0775
Reference
PMID:7800007
  Authors
Kopp P, van Sande J, Parma J, Duprez L, Gerber H, Joss E, Jameson JL, Dumont JE, Vassart G
  Title
Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.
  Journal
N Engl J Med 332:150-4 (1995)
DOI:10.1056/NEJM199501193320304
Reference
PMID:7920658
  Authors
Duprez L, Parma J, Van Sande J, Allgeier A, Leclere J, Schvartz C, Delisle MJ, Decoulx M, Orgiazzi J, Dumont J, et al.
  Title
Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.
  Journal
Nat Genet 7:396-401 (1994)
DOI:10.1038/ng0794-396
Reference
PMID:9360555
  Authors
Holzapfel HP, Wonerow P, von Petrykowski W, Henschen M, Scherbaum WA, Paschke R
  Title
Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene.
  Journal
J Clin Endocrinol Metab 82:3879-84 (1997)
DOI:10.1210/jcem.82.11.4378
Reference
  Authors
Cho WK, Ahn MB, Jang W, Chae H, Kim M, Suh BK
  Title
Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene.
  Journal
Ann Pediatr Endocrinol Metab 23:235-239 (2018)
DOI:10.6065/apem.2018.23.4.235
Reference
PMID:8981020
  Authors
Paschke R
  Title
Constitutively activating TSH receptor mutations as the cause of toxic thyroid adenoma, multinodular toxic goiter and autosomal dominant non autoimmune hyperthyroidism.
  Journal
Exp Clin Endocrinol Diabetes 104 Suppl 4:129-32 (1996)
DOI:10.1055/s-0029-1211720
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