Kallmann syndrome (Homo sapiens)

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62556135575575169563224, 83Egg cellProliferationDifferentiationProliferationSurvivalProliferationDifferentiationSurvivalCytoskeletal organization MigrationPituitary glandSperm cellsMutationOvariesTestes♂♀PROK2Prokineticin-2CHD7GRB2Neurogenin-1ATPSEMA3EPIK3CAGeneHSFGF8PROKR2PLXND1CHD7OTX2PLCFGFR1GeneFRS2GeneFGFMAPK1SOX10GenePTPN11MAP2K2AKT1FGF8MYRFPKCASCL1IP3MyelinationSOX10Voice breaksGrowth of muscle tissueEnlargement of genitaliaFacial, pubic & axiliary hairestradiolDAGTMEM98OLIG2ZFP24HSHypothalamusCHD7Cell migrationCa2+FGFR1ZFP24ANOS1testosteroneBroadening of hipsMenstruation beginsDevelopment of breastsPubic & axiliary hairLHGNRHoestrogentestosterone♀♂c**Expressed via circadian rhythmSuprachiasmatic nucleiHSANOS1ANOS1FGFR1cFGFR1cFSHLHprogesteroneinhibitinPppppPComplexPhosphorilated state*


Description

Pathway for Kallmann's Syndrome

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Quality Tags

Ontology Terms

 

Bibliography

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  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

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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

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NameTypeDatabase referenceComment
AKT1GeneProductENSG00000142208 (Ensembl)
ANOS1GeneProductENSG00000011201 (Ensembl)
ASCL1GeneProductENSG00000139352 (Ensembl)
ATPMetabolite30616 (ChEBI)
Broadening of hips

Menstruation begins Development of breasts

Pubic & axiliary hair
CHD7 GeneProductENSG00000171316 (Ensembl)
CHD7GeneProductENSG00000171316 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
Cell migrationQ189092 (Wikidata)
DAGMetaboliteCHEBI:18035 (ChEBI)
FGFGeneProduct
FGF8GeneProductENSG00000107831 (Ensembl)
FGFR1GeneProductENSG00000077782 (Ensembl)
FRS2GeneProductENSG00000166225 (Ensembl)
FSHMetaboliteCHEBI:81569 (ChEBI)
GNRHProteinENSG00000147437 (Ensembl)
GRB2GeneProductENSG00000177885 (Ensembl)
GeneGeneProduct
HSMetaboliteCHEBI:28815 (ChEBI)
HypothalamusMetaboliteCHEBI:65307 (ChEBI)
IP3MetaboliteCHEBI:16595 (ChEBI)
LHProteinCHEBI:81569 (ChEBI)
MAP2K2GeneProductENSG00000126934 (Ensembl)
MAPK1GeneProductENSG00000100030 (Ensembl)
MYRFGeneProductENSG00000124920 (Ensembl)
Myelination Q14876135 (Wikidata)
Neurogenin-1ProteinF1T0H3 (Uniprot-TrEMBL)
OLIG2 GeneProductENSG00000205927 (Ensembl)
OTX2GeneProductENSG00000165588 (Ensembl)
PIK3CAGeneProductENSG00000121879 (Ensembl)
PKCProteinA0A087X0I9 (Uniprot-TrEMBL)
PLCProtein9606 (Other)
PLXND1GeneProductQ9Y4D7 (Uniprot-TrEMBL)
PROK2GeneProductENSG00000163421 (Ensembl)
PROKR2GeneProductENSG00000101292 (Ensembl)
PTPN11GeneProductENSG00000179295 (Ensembl)
Prokineticin-2ProteinQ9HC23 (Uniprot-TrEMBL)
SEMA3EGeneProductENSG00000170381 (Ensembl)
SOX10 GeneProductENSG00000100146 (Ensembl)
SOX10 GeneProductENSG00000100146 (Ensembl)
TMEM98 GeneProductENSG00000006042 (Ensembl)
Voice breaks

Growth of muscle tissue Enlargement of genitalia

Facial, pubic & axiliary hair
ZFP24 GeneProduct
ZFP24 GeneProduct
estradiolMetaboliteCHEBI:23965 (ChEBI)
inhibitin
oestrogenMetaboliteCHEBI:50114 (ChEBI)
progesteroneMetaboliteCHEBI:17026 (ChEBI)
testosteroneMetaboliteCHEBI:17347 (ChEBI)
  • Estradiol
  • Progesteron

Annotated Interactions

No annotated interactions

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