Kallmann syndrome (WP5074)

Homo sapiens

Pathway for Kallmann's Syndrome
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Authors

Marijn Kerkhofs , Friederike Ehrhart , Egon Willighagen , Eric Weitz , and Alex Pico

Cited In

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Organism

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology: Kallmann syndrome

Pathway Ontology: disease pathway

Participants

Label Type Compact Identifier Comment
ATP Metabolite chebi:30616
HS Metabolite chebi:28815
IP3 Metabolite chebi:16595
estradiol Metabolite chebi:23965
DAG Metabolite chebi:18035
HS Metabolite chebi:28815
Hypothalamus Metabolite chebi:65307
Ca2+ Metabolite chebi:29108
testosterone Metabolite chebi:17347
LH Metabolite uniprot:P01229
oestrogen Metabolite chebi:50114
testosterone Metabolite chebi:17347 Estradiol
Progesteron
HS Metabolite chebi:28815
FSH Metabolite chebi:81569
progesterone Metabolite chebi:17026
MAPK1 GeneProduct ensembl:ENSG00000100030
PLXND1 GeneProduct uniprot:Q9Y4D7
CHD7 GeneProduct ensembl:ENSG00000171316
PROK2 GeneProduct ensembl:ENSG00000163421
SEMA3E GeneProduct ensembl:ENSG00000170381
CHD7 GeneProduct ensembl:ENSG00000171316
SOX10 GeneProduct ensembl:ENSG00000100146
OTX2 GeneProduct ensembl:ENSG00000165588
ASCL1 GeneProduct ensembl:ENSG00000139352
MYRF GeneProduct ensembl:ENSG00000124920
GRB2 GeneProduct ensembl:ENSG00000177885
PROKR2 GeneProduct ensembl:ENSG00000101292
AKT1 GeneProduct ensembl:ENSG00000142208
FGF8 GeneProduct ensembl:ENSG00000107831
PTPN11 GeneProduct ensembl:ENSG00000179295
FGF8 GeneProduct ensembl:ENSG00000107831
FRS2 GeneProduct ensembl:ENSG00000166225
FGFR1c GeneProduct ensembl:ENSG00000077782
MAP2K2 GeneProduct ensembl:ENSG00000126934
PIK3CA GeneProduct ensembl:ENSG00000121879
SOX10 GeneProduct ensembl:ENSG00000100146
TMEM98 GeneProduct ensembl:ENSG00000006042
OLIG2 GeneProduct ensembl:ENSG00000205927
CHD7 GeneProduct ensembl:ENSG00000171316
FGFR1c GeneProduct ensembl:ENSG00000077782
ANOS1 GeneProduct ensembl:ENSG00000011201
ANOS1 GeneProduct ensembl:ENSG00000011201
ANOS1 GeneProduct ensembl:ENSG00000011201
FGFR1c GeneProduct ensembl:ENSG00000077782
FGFR1c GeneProduct ensembl:ENSG00000077782
Prokineticin-2 Protein uniprot:Q9HC23
PLC Protein :9606
PKC Protein uniprot:A0A087X0I9
Neurogenin-1 Protein uniprot:F1T0H3
GNRH Protein ensembl:ENSG00000147437
LH Protein uniprot:P01229
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References

  1. Cellular signaling by fibroblast growth factor receptors. Eswarakumar VP, Lax I, Schlessinger J. Cytokine Growth Factor Rev. 2005 Apr;16(2):139–49. PubMed Europe PMC Scholia
  2. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, et al. PLoS Genet. 2006 Oct 20;2(10):e175. PubMed Europe PMC Scholia
  3. Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction. Miraoui H, Dwyer A, Pitteloud N. Mol Cell Endocrinol. 2011 Oct 22;346(1–2):37–43. PubMed Europe PMC Scholia
  4. PROK2/PROKR2 Signaling and Kallmann Syndrome. Dodé C, Rondard P. Front Endocrinol (Lausanne). 2013 Apr 12;4:19. PubMed Europe PMC Scholia
  5. Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome. Cariboni A, André V, Chauvet S, Cassatella D, Davidson K, Caramello A, et al. J Clin Invest. 2015 Jun;125(6):2413–28. PubMed Europe PMC Scholia
  6. Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome. Basson MA, van Ravenswaaij-Arts C. Trends Genet. 2015 Oct;31(10):600–11. PubMed Europe PMC Scholia
  7. Reactome diagram viewer: data structures and strategies to boost performance. Fabregat A, Sidiropoulos K, Viteri G, Marin-Garcia P, Ping P, Stein L, et al. Bioinformatics. 2018 Apr 1;34(7):1208–14. PubMed Europe PMC Scholia
  8. Neurog2 Acts as a Classical Proneural Gene in the Ventromedial Hypothalamus and Is Required for the Early Phase of Neurogenesis. Aslanpour S, Han S, Schuurmans C, Kurrasch DM. J Neurosci. 2020 Apr 29;40(18):3549–63. PubMed Europe PMC Scholia