|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inactivating autosomal recessive mutations in fibroblast growth factor 23 <i>(FGF23), klotho (KL) and polypeptide N-acetylgalactosaminotransferase 3 (GALNT3)</i> genes lead to a rare disorder, hyperphosphatemic familial tumoral calcinosis (HFTC).
|
30015621 |
2019 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
Biomarker
|
disease |
BEFREE |
Inactivating mutations in FGF23, N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO (KL) have been reported as causing HFTC/HHS.
|
30226830 |
2018 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO.
|
27164190 |
2016 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare autosomal recessive metabolic disorder caused by mutations in the GALNT3 and FGF23 genes.
|
25153226 |
2015 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have described HFTC and HHS in a consanguineous Caucasian family with a novel GALNT3 mutation, demonstrating new phenotypic features and significant variability in the natural course of the disease.
|
25249269 |
2014 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
Biomarker
|
disease |
MGD |
A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
|
22912827 |
2012 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
0.800 |
Biomarker
|
disease |
MGD |
A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
|
22912827 |
2012 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.
|
21347749 |
2011 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.
|
21347749 |
2011 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.
|
21347749 |
2011 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
Biomarker
|
disease |
MGD |
Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.
|
19213845 |
2009 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The identification of two novel heterozygous pathogenic mutations in the GALNT3 gene confirmed a diagnosis of HHS.
|
19297793 |
2009 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.
|
18982401 |
2009 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Accordingly, loss-of-function mutations in GALNT3 cause hyperphosphatemic familial tumoral calcinosis (HFTC), a rare autosomal recessive disorder manifesting with increased kidney reabsorption of phosphate, resulting in severe hyperphosphatemia and widespread ectopic calcifications.
|
18976705 |
2009 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
0.800 |
Biomarker
|
disease |
MGD |
Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.
|
19213845 |
2009 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe two children with HHS who were found to be homozygous for a mutation in GALNT3 encoding a peptide involved in mucin-type O-glycosylation (ppGaNTase-T3).
|
17129170 |
2007 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the current study, we performed mutation analyses of the GALNT3 gene in a subject with HFTC and in his relatives.
|
17351710 |
2007 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Our objective was to identify mutations in FGF23 or GALNT3 and determine serum FGF23 levels in an HHS patient.
|
17311862 |
2007 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The present results expand the spectrum of known mutations in GALNT3 and demonstrate the existence of HFTC-causing mutations in this gene outside the Middle Eastern and African-American populations.
|
16528452 |
2006 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
Biomarker
|
disease |
BEFREE |
Genotype analysis of six microsatellite markers across the GALNT3 region on 2q24-q31 revealed that the HHS and HFTC families share a common haplotype spanning approximately 0.14 Mb.
|
15599692 |
2005 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.
|
15687324 |
2005 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
|
15133511 |
2004 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
|
15133511 |
2004 |
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
|
15133511 |
2004 |