SLC20A2, solute carrier family 20 member 2, 6575

N. diseases: 104; N. variants: 36
Disease: Primary familial brain calcification ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE Primary familial brain calcification (PFBC), widely known as Fahr's disease, is a rare disorder caused by pathogenic variants in SLC20A2, PDGFB, PDGFRB, XPR1, or MYORG genes. 31768941 2020
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE Previous studies reported that SLC20A2, PDGFRB, PDGFB, XPR1 and MYORG are associated with PFBC, with SLC20A2 the main culprit. 30634018 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE Several SLC20A2 mutations have been implicated as potential causes of Fahr's disease, a subtype of primary familial brain calcification (PFBC), but very few patient-derived induced pluripotent stem cell (iPSC) models have been established. 30776674 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE In conclusion, our study further confirms that mutations in SLC20A2 are the major cause of PFBC and provides additional evidence for the crucial roles of phosphate transport impairment in the pathogenies of PFBC. 30609140 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE For clinical purpose, it is important to consider thunderclap headache and genetic anticipation in PFBC caused by SLC20A2 variants. 29680161 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE Our results confirm that deletion in SLC20A2 is a causal mechanism for PFBC and highlight the importance of functional study for classifying a rare missense variant as (likely) pathogenic. 30891739 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE Mutations in four genes cause autosomal dominant PFBC: SLC20A2, XPR1, PDGFB and PDGFRB. 31009047 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 Biomarker disease BEFREE Lack of Major Ophthalmic Findings in Patients with Primary Familial Brain Calcification Linked to SLC20A2 and PDGFB. 30607898 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE Overall, SLC20A2 deletions may be highly underestimated PFBC cases, and we suggest MLPA should be included in the routine molecular test for PFBC diagnosis. 31501477 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE The patient was found to have a SLC20A2 mutation known to be pathogenic in PFBC, as well as a variant of unknown significance in SCN2A. 29448117 2018
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 Biomarker disease BEFREE To investigate the role of PiT2 in PFBC development, we studied Slc20a2-knockout (KO) mice using histology, microcomputed tomography, electron microscopy, and energy-dispersive X-ray spectroscopy. 29803831 2018
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE This is the first study reporting sub-cellular expression analysis of mutant PiT-2 in primary cultured fibroblasts from a PFBC patient, showing that p.Trp626_Thr629dup in SLC20A2 alters PiT-2 sub-cellular localization and reduces Pi-uptake, leading to onset of PFBC in our patient. 28722801 2018
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE In the past years PFBC causal mutations have been discovered in genes related to calcium phosphate homeostasis (SLC20A2, XPR1) and in genes involved with endothelial function and integrity (PDGFB, PDGFRB). 29325620 2018
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE However, little is known about the distribution and basic function of XPR1 and its interaction with the other three pathogenic genes for PFBC (SLC20A2, PDGFRB and PDGFB). 28766044 2017
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE The results suggest that mutations in SLC20A2 gene by itself play an import role by reducing its expression in blood of PFBC patients. 28578517 2017
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 Biomarker disease BEFREE Our results support haploinsufficiency of SLC20A2 as a pathogenetic mechanism in PFBC. 27726124 2017
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE Dopamine transporter single photon emission computed tomography using <sup>123</sup>I-ioflupane and <sup>123</sup>I-metaiodobenzylguanidine cardiac scintigraphy revealed pre-synaptic dopaminergic deficit and cardiac sympathetic nerve dysfunction in two SLC20A2-related PFBC patients with parkinsonism. 28935882 2017
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 Biomarker disease BEFREE Four causative genes, including solute carrier family 20 member 2 (SLC20A2), platelet-derived growth factor receptor b (PDGFRB), platelet-derived growth factor b (PDGFB)and xenotropic and polytropic retrovirus receptor 1 (XPR1), have been identified to cause primary familial brain calcification (PFBC). 28298627 2017
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE The identified SLC20A2 mutation resolves the genetic cause of primary familial brain calcification in the 'IBGC2' kindred, collapsing 'IBGC2' into IBGC1. 27671522 2016
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 Biomarker disease BEFREE Using Sanger sequencing, we screened XPR1 in 18 unrelated patients with PFBC and no SLC20A2, PDGFB, or PDGFRB mutation. 27230854 2016
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 Biomarker disease BEFREE So far, variants in three genes have been linked to PFBC: SLC20A2, PDGFRB, and PDGFB. 25726928 2015
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 Biomarker disease BEFREE Our findings support seizures as part of the phenotypic spectrum of SLC20A2-related PFBC. 26475232 2015
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. 25958344 2015
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE A known mutation in PDGFB (c.445C>T, p.Arg149*) was consistently detected in both PFBC cases by Sanger sequencing.No mutations in SLC20A2 were detected. 25211641 2015
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. 25938945 2015