KL, klotho, 9365

N. diseases: 332; N. variants: 20
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 Biomarker 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
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 Biomarker disease BEFREE Inactivating mutations in FGF23, N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO (KL) have been reported as causing HFTC/HHS. 30226830 2018
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 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
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 Biomarker disease BEFREE To date, recessive mutations have been described in three genes involving phosphate metabolism: FGF23, GALNT3, and α-Klotho, all of which result in the phenotypic presentation of hFTC. 25656441 2015
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 Biomarker disease MGD N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models. 25860694 2015
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 GermlineCausalMutation disease ORPHANET Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho). 22142751 2011
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 GermlineCausalMutation disease ORPHANET A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007