KEGG   NETWORK: N00911
Entry
N00911                      Network                                

Name
Mutation-inactivated GHRHR to GHRHR-PKA-GH signaling pathway
Definition
GHRH // GHRHR* // GNAS -> ADCY -> cAMP
  Expanded
2691 // 2692v1 // 2778 -> (107,108,109,196883,111,112,113,114,115) -> C00575
Class
nt06324 GHRH-GH-IGF signaling
Type
Variant
Disease
H02035  Isolated growth hormone deficiency
H00254  Growth hormone deficiency
Gene
2691  GHRH; growth hormone releasing hormone
2692  GHRHR; growth hormone releasing 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
Variant
2692v1 (GHRHR*)  GHRHR mutation
Metabolite
C00575  3',5'-Cyclic AMP
Reference
  Authors
Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, Gatelais F, Heinrichs C, Kaffel N, Coutant R, Savas Erdeve S, Kurnaz E, Aycan Z, Thalassinos C, Lyonnet S, Siklar Z, Berberoglu M, Brachet C, Amselem S, Legendre M
  Title
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
  Journal
Hum Mutat 40:2033-2043 (2019)
DOI:10.1002/humu.23847
Reference
  Authors
Aguiar-Oliveira MH, Bartke A
  Title
Growth Hormone Deficiency: Health and Longevity.
  Journal
Endocr Rev 40:575-601 (2019)
DOI:10.1210/er.2018-00216
Reference
  Authors
Godi M, Mellone S, Petri A, Arrigo T, Bardelli C, Corrado L, Bellone S, Prodam F, Momigliano-Richiardi P, Bona G, Giordano M
  Title
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.
  Journal
J Clin Endocrinol Metab 94:3939-47 (2009)
DOI:10.1210/jc.2009-0833
Reference
  Authors
Alatzoglou KS, Webb EA, Le Tissier P, Dattani MT
  Title
Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances.
  Journal
Endocr Rev 35:376-432 (2014)
DOI:10.1210/er.2013-1067
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