hyperphosphatemia

Summary
Definition
A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene.
Super Class
phosphorus metabolism disease
External Links
Disease Ontology
DOID:0050459
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
125 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide
1585 CYP11B2 cytochrome P450 family 11 subfamily B member 2
1591 CYP24A1 cytochrome P450 family 24 subfamily A member 1
1594 CYP27B1 cytochrome P450 family 27 subfamily B member 1
2591 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
6470 SHMT1 serine hydroxymethyltransferase 1
9365 KL klotho
27315 PGAP2 post-GPI attachment to proteins 2
55512 SMPD3 sphingomyelin phosphodiesterase 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024