|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0026882,
umls-concept:C0086045,
umls-concept:C0205251,
umls-concept:C0205266,
umls-concept:C0205314,
umls-concept:C0678227,
umls-concept:C0679622,
umls-concept:C0962301,
umls-concept:C1274040,
umls-concept:C1414953,
umls-concept:C1853256
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
2007-5-7
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|
pubmed:abstractText |
Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare metabolic disorder characterized by hyperphosphatemia and localized hyperostosis. HHS is caused by mutations in GALNT3, which encodes UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 3. Familial tumoral calcinosis (TC), characterized by ectopic calcifications and hyperphosphatemia, is caused by mutations in the GALNT3 or fibroblast growth factor 23 (FGF23) genes.
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pubmed:grant |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
May
|
|
pubmed:issn |
0021-972X
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|
pubmed:author |
|
|
pubmed:issnType |
Print
|
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pubmed:volume |
92
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1943-7
|
|
pubmed:dateRevised |
2007-11-14
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|
pubmed:meshHeading |
pubmed-meshheading:17311862-Calcinosis,
pubmed-meshheading:17311862-Child, Preschool,
pubmed-meshheading:17311862-DNA Mutational Analysis,
pubmed-meshheading:17311862-Fibroblast Growth Factors,
pubmed-meshheading:17311862-Humans,
pubmed-meshheading:17311862-Hyperostosis,
pubmed-meshheading:17311862-Magnetic Resonance Imaging,
pubmed-meshheading:17311862-Male,
pubmed-meshheading:17311862-Mutation,
pubmed-meshheading:17311862-N-Acetylgalactosaminyltransferases,
pubmed-meshheading:17311862-Neoplasm Proteins,
pubmed-meshheading:17311862-Pedigree,
pubmed-meshheading:17311862-Phenotype,
pubmed-meshheading:17311862-Phosphates,
pubmed-meshheading:17311862-RNA,
pubmed-meshheading:17311862-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:17311862-Syndrome
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|
pubmed:year |
2007
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|
pubmed:articleTitle |
Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.
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|
pubmed:affiliation |
Department of Medicine, Indiana University School of Medicine, 541 North Clinical Drive, Clinical Building 459, Indianapolis, IN 46202-5121, USA.
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|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, N.I.H., Extramural
|
