FGF23 signaling in hypophosphatemic rickets and related disorders (WP4790)

Homo sapiens

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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 [https://www.ncbi.nlm.nih.gov/pubmed/30808384]

Authors

Ritchie Lee , Andreas Zankl , Kristina Hanspers , Eric Weitz , and Egon Willighagen

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Skeletal Dysplasia

Annotations

Disease Ontology

Pfeiffer syndrome achondroplasia rickets childhood hypophosphatasia Muenke Syndrome hypochondroplasia X-linked dominant hypophosphatemic rickets adult hypophosphatasia Crouzon syndrome

Cell Type Ontology

osteoblast

Pathway Ontology

altered fibroblast growth factor 23 signaling pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
Ca2+ Metabolite chebi:29108
25-Hydroxyvitamin D Metabolite chebi:86319
Phosphorous Metabolite chebi:30207
Pyrophosphate Metabolite chebi:29888
FGFR3 GeneProduct ensembl:ENSG00000068078
DMP1 GeneProduct ensembl:ENSG00000152592
ROS1 GeneProduct ensembl:ENSG00000047936
ORAI1 GeneProduct ensembl:ENSG00000276045
CYP11B2 GeneProduct ensembl:ENSG00000179142
FAM20C GeneProduct ensembl:ENSG00000177706
PHEX GeneProduct ensembl:ENSG00000102174
KL GeneProduct ensembl:ENSG00000133116
PTH GeneProduct ensembl:ENSG00000152266
CCND1 GeneProduct ensembl:ENSG00000110092
GALNT3 GeneProduct ensembl:ENSG00000115339
NFKB2 GeneProduct ensembl:ENSG00000077150
ALPL GeneProduct ensembl:ENSG00000162551
FGF23 GeneProduct ensembl:ENSG00000118972
SPP1 GeneProduct ensembl:ENSG00000118785
CYP27B1 GeneProduct ensembl:ENSG00000111012
SLC34A1 GeneProduct ensembl:ENSG00000131183
NFKB1 GeneProduct ensembl:ENSG00000109320
CDKN1A GeneProduct ensembl:ENSG00000124762
ENPP1 GeneProduct ensembl:ENSG00000197594
CYP24A1 GeneProduct ensembl:ENSG00000019186
FGFR2 GeneProduct ensembl:ENSG00000066468
SLC34A3 GeneProduct ensembl:ENSG00000198569

References

  1. FGF23 and its role in X-linked hypophosphatemia-related morbidity. Beck-Nielsen SS, Mughal Z, Haffner D, Nilsson O, Levtchenko E, Ariceta G, et al. Orphanet J Rare Dis. 2019 Feb 26;14(1):58. PubMed Europe PMC Scholia