FGF23 signaling in hypophosphatemic rickets and related disorders (Homo sapiens)

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1OsteoblastOsteoblastThyroid glandSystemic circulationGastro-intestinal tractPhosphateabsorptionActin skeleton reorganisationHypophosphataemiaStabilisation ofnuclear alphaHIF-1CalcitrolMalaciaOsteomalaciaCalcitrolRicketsChondrocyte differentiationFGF23 signallingPhosphate lossKLOTHO deficiencyHydroxyapatitePhosphate liberatedfrom pyrophosphateIron deficiencyProprotein convertasesRicketsActivated renin angiotensin systempASARMHydroxyapatiteformationFGF23 degradationFGFR3PTHCYP27B1DMP1ENPP1CYP11B2SLC34A1NFKB2ORAI1calciumFAM20CROS1PyrophosphateCCND1NFKB1PhosphorousDMP1GALNT3SPP1CDKN1AALPL25-Hydroxyvitamin DKLFGF23PHEXPHEXCYP27B1CYP24A1Locally producedcalcitrolFGFR2CYP27B1CYP24A1KidneySLC34A3OMIM:617993Tumoral Calcinosis, Hyperphosphatemic, Familial, 2OMIM:241520Hypophosphatemic Rickets, Autosomal Recessive, 1OMIM:193100Hypophosphatemic Rickets, Autosomal DominantOMIM:613312Hypophosphatemic Rickets, Autosomal Recessive, 2OMIM:241520Hypophosphatemic Rickets, Autosomal Recessive, 1OMIM:264700Vitamin D Hydroxylation-Deficient Rickets, Type 1AOMIM:146000HypochondroplasiaOMIM:610474Camptodactyly, Tall Stature, And Hearing Loss SyndromeOMIM:187601Thanatophoric Dysplasia, Type IIOMIM:264700Vitamin D Hydroxylation-Deficient Rickets, Type 1AOMIM:241530Hypophosphatemic Rickets With Hypercalciuria, HereditaryOMIM:616482Achondroplasia, Severe, With Developmental Delay And Acanthosis NigricansOMIM:307800Hypophosphatemic Rickets, X-Linked DominantOMIM:307800Hypophosphatemic Rickets, X-Linked DominantOMIM:602849Muenke SyndromeOMIM:264700Vitamin D Hydroxylation-Deficient Rickets, Type 1AOMIM:123790Beare-Stevenson Cutis Gyrata SyndromeOMIM:101200Apert SyndromeOMIM:211900Tumoral Calcinosis, Hyperphosphatemic, Familial, 1OMIM:259775Raine SyndromeOMIM:100800AchondroplasiaOMIM:187600Thanatophoric Dysplasia, Type IOMIM:612247Crouzon Syndrome With Acanthosis NigricansOMIM:146300Hypophosphatasia, AdultOMIM:149730Lacrimoauriculodentodigital SyndromeOMIM:101600Pfeiffer SyndromeOMIM:617994Tumoral Calcinosis, Hyperphosphatemic, Familial, 3OMIM:614592Bent Bone Dysplasia SyndromeOMIM:123500Crouzon SyndromeOMIM:241500Hypophosphatasia, Infantile


Description

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Ontology Terms

 

Bibliography

  1. Beck-Nielsen SS, Mughal Z, Haffner D, Nilsson O, Levtchenko E, Ariceta G, de Lucas Collantes C, Schnabel D, Jandhyala R, Mäkitie O; ''FGF23 and its role in X-linked hypophosphatemia-related morbidity.''; Orphanet J Rare Dis, 2019 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128855view13:43, 23 February 2024EweitzSpecify metabolite label, standardize gene name, case
128853view13:15, 23 February 2024EweitzOntology Term : 'Pfeiffer syndrome' added !
128852view13:14, 23 February 2024EweitzOntology Term : 'Crouzon syndrome' added !
128851view13:14, 23 February 2024EweitzOntology Term : 'childhood hypophosphatasia' added !
128850view13:13, 23 February 2024EweitzOntology Term : 'adult hypophosphatasia' added !
128849view13:13, 23 February 2024EweitzOntology Term : 'Muenke Syndrome' added !
128848view13:13, 23 February 2024EweitzOntology Term : 'hypochondroplasia' added !
128847view13:12, 23 February 2024EweitzOntology Term : 'achondroplasia' added !
128846view13:11, 23 February 2024EweitzOntology Term : 'osteoblast' added !
128845view13:07, 23 February 2024EweitzOntology Term : 'rickets' added !
128844view13:06, 23 February 2024EweitzStandardize case
128843view12:50, 23 February 2024EweitzSoften disease color
127762view09:34, 3 December 2023EgonwChEBI id for Ca2+ instead of the "Ca" atom
116413view09:07, 7 May 2021EweitzModified title
111721view17:02, 3 September 2020KhanspersOntology Term : 'altered fibroblast growth factor 23 signaling pathway' added !
111720view17:02, 3 September 2020KhanspersOntology Term : 'X-linked hypophosphatemic rickets' added !
111595view03:22, 27 August 2020AzanklModified title
111594view03:18, 27 August 2020AzanklModified description
110637view08:41, 23 May 2020Azanklfixed unconnected lines
108845view23:21, 2 February 2020RleeFixed 1 unconnected line.
108838view02:00, 1 February 2020RleeModified description
108837view02:00, 1 February 2020RleeNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
25-Hydroxyvitamin DMetaboliteCHEBI:86319 (ChEBI)
ALPLGeneProductENSG00000162551 (Ensembl)
CCND1GeneProductENSG00000110092 (Ensembl)
CDKN1AGeneProductENSG00000124762 (Ensembl)
CYP11B2GeneProductENSG00000179142 (Ensembl)
CYP24A1GeneProductENSG00000019186 (Ensembl)
CYP27B1GeneProductENSG00000111012 (Ensembl)
DMP1GeneProductENSG00000152592 (Ensembl)
ENPP1GeneProductENSG00000197594 (Ensembl)
FAM20CGeneProductENSG00000177706 (Ensembl)
FGF23GeneProductENSG00000118972 (Ensembl)
FGFR2GeneProductENSG00000066468 (Ensembl)
FGFR3GeneProductENSG00000068078 (Ensembl)
GALNT3GeneProductENSG00000115339 (Ensembl)
KLGeneProductENSG00000133116 (Ensembl)
NFKB1GeneProductENSG00000109320 (Ensembl)
NFKB2GeneProductENSG00000077150 (Ensembl)
ORAI1GeneProductENSG00000276045 (Ensembl)
PHEXGeneProductENSG00000102174 (Ensembl)
PTHGeneProductENSG00000152266 (Ensembl)
PhosphorousMetaboliteCHEBI:30207 (ChEBI)
PyrophosphateMetaboliteCHEBI:29888 (ChEBI)
ROS1GeneProductENSG00000047936 (Ensembl)
SLC34A1GeneProductENSG00000131183 (Ensembl)
SLC34A3GeneProductENSG00000198569 (Ensembl)
SPP1GeneProductENSG00000118785 (Ensembl)
calciumMetaboliteCHEBI:22984 (ChEBI)

Annotated Interactions

No annotated interactions

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