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

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1Systemic circulationGastro-intestinal tractOsteoblastThyroid glandOsteoblastChondrocyte differentiationProprotein convertasesOsteomalaciaPhosphateabsorptionCalcitrolActivated renin angiotensin systemFGF23 degradationHypophosphataemiaRicketsMalaciaActin skeleton reorganisationHydroxyapatiteCalcitrolFGF23 signallingpASARMHydroxyapatiteformationPhosphate liberatedfrom pyrophosphateIron deficiencyRicketsKLOTHO deficiencyStabilisation ofnuclear alphaHIF-1Phosphate lossCYP27B1PHEXALPL25-Hydroxyvitamin DPhosphorousKLROS1SLC34A1SPP1ENPP1PyrophosphateGALNT3FGFR3CCND1PTHCDKN1AcalciumDMP1FAM20CNFKB1NFKB2ORAI1CYP11B2FGF23DMP1PHEXCYP27B1CYP24A1Locally 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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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
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

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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:29108 (ChEBI)

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