Kallmann syndrome (Homo sapiens)

From WikiPathways

Revision as of 00:19, 27 October 2024 by Eweitz (Talk | contribs)
Jump to: navigation, search


Description

Pathway for Kallmann's Syndrome

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. 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
  2. Basson MA, van Ravenswaaij-Arts C; ''Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.''; Trends Genet, 2015 PubMed Europe PMC Scholia
  3. Eswarakumar VP, Lax I, Schlessinger J; ''Cellular signaling by fibroblast growth factor receptors.''; Cytokine Growth Factor Rev, 2005 PubMed Europe PMC Scholia
  4. 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
  5. 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
  6. ''FGFR1c:KAL1 [plasma membrane]''; Reactome R-HSA-5654346.1,
  7. 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
  8. 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
  9. Dodé C, Rondard P; ''PROK2/PROKR2 Signaling and Kallmann Syndrome.''; Front Endocrinol (Lausanne), 2013 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
135697view15:19, 27 October 2024EweitzFix newlines
135696view15:18, 27 October 2024EweitzRemove unconnected satellite gene, fix newlines, standardize case
135691view00:19, 27 October 2024EweitzEconomize layout
127639view14:05, 11 November 2023EgonwConverted to labels to datanode
125313view20:47, 31 January 2023LarsgwFix bp:DB of reference
123343view07:20, 17 July 2022EgonwAnd now the correct Uniprot ID
123342view07:19, 17 July 2022EgonwAssuming LH is luteinising hormone, I gave it a Uniprot identifier
120388view08:34, 30 November 2021FehrhartConnected unconnected lines
120274view13:12, 23 November 2021EgonwReplaces a PMCID with a PMID
119068view17:35, 14 June 2021AlexanderPicoremoved additional character encodings
119066view17:32, 14 June 2021AlexanderPicoFixed states and character encodings
119017view18:53, 9 June 2021EgonwNot a mim-conversion
117767view13:29, 22 May 2021EweitzModified title
117766view13:29, 22 May 2021EweitzOntology Term : 'Kallmann syndrome' added !
117765view13:27, 22 May 2021EweitzModified title
116275view15:59, 25 April 2021EgonwBetter use @Type="Metabolite" so that links out to other databases work
115757view12:14, 10 March 2021FehrhartOntology Term : 'disease pathway' added !
115756view12:11, 10 March 2021MtkerkhofsNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
AKT1GeneProductENSG00000142208 (Ensembl)
ANOS1GeneProductENSG00000011201 (Ensembl)
ASCL1GeneProductENSG00000139352 (Ensembl)
ATPMetabolite30616 (ChEBI)
Broadening of hipsMenstruation beginsDevelopment of breastsPubic & axiliary hair
CHD7GeneProductENSG00000171316 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
Cell migrationQ189092 (Wikidata)
DAGMetaboliteCHEBI:18035 (ChEBI)
FGFGeneProduct
FGF8GeneProductENSG00000107831 (Ensembl)
FGFR1cGeneProductENSG00000077782 (Ensembl)
FRS2GeneProductENSG00000166225 (Ensembl)
FSHMetaboliteCHEBI:81569 (ChEBI)
GNRHProteinENSG00000147437 (Ensembl)
GRB2GeneProductENSG00000177885 (Ensembl)
GeneGeneProduct
HSMetaboliteCHEBI:28815 (ChEBI)
HypothalamusMetaboliteCHEBI:65307 (ChEBI)
IP3MetaboliteCHEBI:16595 (ChEBI)
LHProteinP01229 (Uniprot-TrEMBL)
MAP2K2GeneProductENSG00000126934 (Ensembl)
MAPK1GeneProductENSG00000100030 (Ensembl)
MYRFGeneProductENSG00000124920 (Ensembl)
MyelinationQ14876135 (Wikidata)
Neurogenin-1ProteinF1T0H3 (Uniprot-TrEMBL)
OLIG2GeneProductENSG00000205927 (Ensembl)
OTX2GeneProductENSG00000165588 (Ensembl)
Ovaries
PIK3CAGeneProductENSG00000121879 (Ensembl)
PKCProteinA0A087X0I9 (Uniprot-TrEMBL)
PLCProtein9606 (Other)
PLXND1GeneProductQ9Y4D7 (Uniprot-TrEMBL)
PROK2GeneProductENSG00000163421 (Ensembl)
PROKR2GeneProductENSG00000101292 (Ensembl)
PTPN11GeneProductENSG00000179295 (Ensembl)
Prokineticin-2ProteinQ9HC23 (Uniprot-TrEMBL)
SEMA3EGeneProductENSG00000170381 (Ensembl)
SOX10GeneProductENSG00000100146 (Ensembl)
TMEM98GeneProductENSG00000006042 (Ensembl)
Testes
Voice breaksGrowth of muscle tissueEnlargement of genitaliaFacial, pubic & axiliary hair
ZFP24GeneProduct
estradiolMetaboliteCHEBI:23965 (ChEBI)
inhibitin
oestrogenMetaboliteCHEBI:50114 (ChEBI)
progesteroneMetaboliteCHEBI:17026 (ChEBI)
testosteroneMetaboliteCHEBI:17347 (ChEBI)
  • Estradiol
  • Progesteron

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5074"
Personal tools