FGF23 signalling in Hypophosphatemic rickets and related disorders (Homo sapiens)

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1Systemic circulationOsteoblastThyroid glandGastro-intestinal tractOsteoblastActivated renin angiotensin systemPhosphate liberatedfrom pyrophosphateOsteomalaciaPhosphate lossRicketsKLOTHO deficiencyHydroxyapatiteHydroxyapatiteformationChondrocyte differentiationActin skeleton reorganisationPhosphateabsorptionCalcitrolpASARMProprotein convertasesFGF23 signallingIron deficiencyRicketsMalaciaStabilisation ofnuclear alphaHIF-1CalcitrolFGF23 degradationHypophosphataemiacalciumPHEXFGF23PyrophosphateCDKN1AROS1SPP1CCND1DMP1CYP11B2FGFR3PhosphorousKLSLC34A1CYP27B1ORAI1PTH25-Hydroxyvitamin DNFKB1GALNT3NFKB2FAM20CENPP1ALPLDMP1PHEXCYP27B1CYP24A1Locally 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

Hypophosphatemic rickets refers to a group of rare genetic disorders characterised by clinical and radiographical features similar to rickets but caused by abnormalities in phosphate metabolism. The most common form, X-linked hypophosphatemic rickets (XLH), is caused by inactivating mutations in the PHEX gene, which encodes the phosphate-regulating neutral endopeptidase PHEX. Patients with XLH have elevated levels of fibroblast growth factor 23 (FGF23), which is thought to mediate many of the clinical manifestations of the disease. Elevated FGF23 levels have also been observed in other hypophosphatemic disorders, yet the role of FGF23 in the pathophysiology of these disorders is incompletely understood. This pathway illustrates hypophosphatemic and autocrine/paracrine molecular pathways that have been proposed to link FGF23 to the bone abnormalities observed in XLH and related disorders. For further details, see [1]

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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

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CompareRevisionActionTimeUserComment
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

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