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Details for phenotype: autosomal dominant hypophosphatemic rickets
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EndoNet ID: ENP00117
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Name
autosomal dominant hypophosphatemic rickets
General information
This phenotype is not pathologic
Links to other resources
GO
vitamin D3 receptor activity
OMIM
193100
Medline Plus
000344
Disease database
33193
Phenotype triggers
VDR
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in
bone
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Missense mutations in FGF23, which likely prevent its cleavage and inactivation, are the cause of ADHR.
[1]
Administration of an ADHR mutant form of FGF23 to mice inhibited sodium-phosphate cotransport activities in both the kidney and small intestine, and suppressed 1,25(OH)2D3.
[2]
Reference
