KEGG   NETWORK: N00785Help
Entry
N00785                      Network                                

Name
Mutation-inactivated PAX8 to TSH-TG signaling pathway
Definition
TSHB -> TSHR -> GNAS -> ADCY -> cAMP -> PKA -> PAX8* // TG
  Expanded
7252 -> 7253 -> 2778 -> (107,108,109,196883,111,112,113,114,115) -> C00575 -> (5566+5567+5568) -> 7849v2 // 7038
Class
nt06322 TRH-TSH-TH signaling
Type
Variant
Pathway
hsa04918  Thyroid hormone synthesis
Disease
H00250  Congenital nongoitrous hypothyroidism (CHNG)
Gene
7252  TSHB; thyroid stimulating hormone subunit beta
7253  TSHR; thyroid stimulating hormone receptor
2778  GNAS; GNAS complex locus
107  ADCY1; adenylate cyclase 1
108  ADCY2; adenylate cyclase 2
109  ADCY3; adenylate cyclase 3
196883  ADCY4; adenylate cyclase 4
111  ADCY5; adenylate cyclase 5
112  ADCY6; adenylate cyclase 6
113  ADCY7; adenylate cyclase 7
114  ADCY8; adenylate cyclase 8
115  ADCY9; adenylate cyclase 9
5566  PRKACA; protein kinase cAMP-activated catalytic subunit alpha
5567  PRKACB; protein kinase cAMP-activated catalytic subunit beta
5568  PRKACG; protein kinase cAMP-activated catalytic subunit gamma
7849  PAX8; paired box 8
7038  TG; thyroglobulin
Variant
7849v2  PAX8 mutation
Metabolite
C00575  3',5'-Cyclic AMP
Reference
  Authors
Peters C, van Trotsenburg ASP, Schoenmakers N
  Title
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
  Journal
Eur J Endocrinol 179:R297-R317 (2018)
DOI:10.1530/EJE-18-0383
Reference
  Authors
Vono-Toniolo J, Kopp P
  Title
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
  Journal
Arq Bras Endocrinol Metabol 48:70-82 (2004)
DOI:10.1590/S0004-27302004000100009
Reference
  Authors
Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P
  Title
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.
  Journal
J Clin Endocrinol Metab 86:3962-7 (2001)
DOI:10.1210/jcem.86.8.7765

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