Kallmann syndrome (Homo sapiens)
From WikiPathways
Description
Pathway for Kallmann's Syndrome
Quality Tags
Ontology Terms
Bibliography
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- Basson MA, van Ravenswaaij-Arts C; ''Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.''; Trends Genet, 2015 PubMed Europe PMC Scholia
- Miraoui H, Dwyer A, Pitteloud N; ''Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.''; Mol Cell Endocrinol, 2011 PubMed Europe PMC Scholia
- ''FGFR1c:KAL1 [plasma membrane]''; Reactome R-HSA-5654346.1,
- Cariboni A, André V, Chauvet S, Cassatella D, Davidson K, Caramello A, Fantin A, Bouloux P, Mann F, Ruhrberg C; ''Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.''; J Clin Invest, 2015 PubMed Europe PMC Scholia
- Aslanpour S, Han S, Schuurmans C, Kurrasch DM; ''Neurog2Acts as a Classical Proneural Gene in the Ventromedial Hypothalamus and Is Required for the Early Phase of Neurogenesis.''; J Neurosci, 2020 PubMed Europe PMC Scholia
- Dodé C, Rondard P; ''PROK2/PROKR2 Signaling and Kallmann Syndrome.''; Front Endocrinol (Lausanne), 2013 PubMed Europe PMC Scholia
- Fabregat A, Sidiropoulos K, Viteri G, Marin-Garcia P, Ping P, Stein L, DÉustachio P, Hermjakob H; ''Reactome diagram viewer: data structures and strategies to boost performance''; PubMed, 2018 PubMed Europe PMC Scholia
- Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP; ''Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.''; PLoS Genet, 2006 PubMed Europe PMC Scholia
- Eswarakumar VP, Lax I, Schlessinger J; ''Cellular signaling by fibroblast growth factor receptors.''; Cytokine Growth Factor Rev, 2005 PubMed Europe PMC Scholia
History
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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
AKT1 | GeneProduct | ENSG00000142208 (Ensembl) ![]() | |
ANOS1 | GeneProduct | ENSG00000011201 (Ensembl) ![]() | |
ASCL1 | GeneProduct | ENSG00000139352 (Ensembl) ![]() | |
ATP | Metabolite | 30616 (ChEBI) ![]() | |
Broadening of hipsMenstruation beginsDevelopment of breastsPubic & axiliary hair | |||
CHD7 | GeneProduct | ENSG00000171316 (Ensembl) ![]() | |
Ca2+ | Metabolite | CHEBI:29108 (ChEBI) ![]() | |
Cell migration | Q189092 (Wikidata) ![]() | ||
DAG | Metabolite | CHEBI:18035 (ChEBI) ![]() | |
FGF | GeneProduct | ||
FGF8 | GeneProduct | ENSG00000107831 (Ensembl) ![]() | |
FGFR1c | GeneProduct | ENSG00000077782 (Ensembl) ![]() | |
FRS2 | GeneProduct | ENSG00000166225 (Ensembl) ![]() | |
FSH | Metabolite | CHEBI:81569 (ChEBI) ![]() | |
GNRH | Protein | ENSG00000147437 (Ensembl) ![]() | |
GRB2 | GeneProduct | ENSG00000177885 (Ensembl) ![]() | |
Gene | GeneProduct | ||
HS | Metabolite | CHEBI:28815 (ChEBI) ![]() | |
Hypothalamus | Metabolite | CHEBI:65307 (ChEBI) ![]() | |
IP3 | Metabolite | CHEBI:16595 (ChEBI) ![]() | |
LH | Protein | P01229 (Uniprot-TrEMBL) ![]() | |
MAP2K2 | GeneProduct | ENSG00000126934 (Ensembl) ![]() | |
MAPK1 | GeneProduct | ENSG00000100030 (Ensembl) ![]() | |
MYRF | GeneProduct | ENSG00000124920 (Ensembl) ![]() | |
Myelination | Q14876135 (Wikidata) ![]() | ||
Neurogenin-1 | Protein | F1T0H3 (Uniprot-TrEMBL) ![]() | |
OLIG2 | GeneProduct | ENSG00000205927 (Ensembl) ![]() | |
OTX2 | GeneProduct | ENSG00000165588 (Ensembl) ![]() | |
Ovaries | |||
PIK3CA | GeneProduct | ENSG00000121879 (Ensembl) ![]() | |
PKC | Protein | A0A087X0I9 (Uniprot-TrEMBL) ![]() | |
PLC | Protein | 9606 (Other) ![]() | |
PLXND1 | GeneProduct | Q9Y4D7 (Uniprot-TrEMBL) ![]() | |
PROK2 | GeneProduct | ENSG00000163421 (Ensembl) ![]() | |
PROKR2 | GeneProduct | ENSG00000101292 (Ensembl) ![]() | |
PTPN11 | GeneProduct | ENSG00000179295 (Ensembl) ![]() | |
Prokineticin-2 | Protein | Q9HC23 (Uniprot-TrEMBL) ![]() | |
SEMA3E | GeneProduct | ENSG00000170381 (Ensembl) ![]() | |
SOX10 | GeneProduct | ENSG00000100146 (Ensembl) ![]() | |
TMEM98 | GeneProduct | ENSG00000006042 (Ensembl) ![]() | |
Testes | |||
Voice breaksGrowth of muscle tissueEnlargement of genitaliaFacial, pubic & axiliary hair | |||
ZFP24 | GeneProduct | ||
estradiol | Metabolite | CHEBI:23965 (ChEBI) ![]() | |
inhibitin | |||
oestrogen | Metabolite | CHEBI:50114 (ChEBI) ![]() | |
progesterone | Metabolite | CHEBI:17026 (ChEBI) ![]() | |
testosterone | Metabolite | CHEBI:17347 (ChEBI) ![]() |
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Annotated Interactions
No annotated interactions