SLC34A1, solute carrier family 34 member 1, 6569

N. diseases: 73; N. variants: 51
Disease: Hypophosphatemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.680 GeneticVariation phenotype BEFREE Analyses of the SLC34A1 gene were performed due to hypercalcemia and hypophosphatemia. 30227399 2019
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.680 GeneticVariation phenotype BEFREE Our report of an autosomal dominant hypophosphatemia pedigree with 5 mutant carriers enriches the clinical phenotype caused by the SLC34A1 mutations and further affirms the heterozygous mutations are causative for hypophosphatemia. 31096470 2019
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.680 GeneticVariation phenotype BEFREE NaPi-IIa is involved in renal reabsorption of inorganic phosphate (Pi) from urine, and patients with biallelic inactivating mutations in SLC34A1 develop hypophosphatemia, hypercalcemia, hypercalciuria and nephrocalcinosis, and nephrolithiasis in early childhood. 30542787 2019
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.680 GeneticVariation phenotype BEFREE Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. 25050900 2014
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.680 Biomarker phenotype RGD Increasing Klotho in the kidney and urine chronically by transgenic overexpression or acutely by intravenous infusion caused hypophosphatemia, phosphaturia from decreased proximal phosphate reabsorption, and decreased activity and protein of the principal renal phosphate transporter NaPi-2a. 20466874 2010
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.680 AlteredExpression phenotype BEFREE FGF23 decreases renal NaPi-2a and NaPi-2c expression and induces hypophosphatemia in vivo predominantly via FGF receptor 1. 19515808 2009
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.680 GeneticVariation phenotype BEFREE Other studies had revealed heterozygous mutations in the sodium phosphate co-transporter NaPi-IIa as the cause of hypophosphatemia associated with hypercalciuria and osteoporosis, and homozygous or compound heterozygous mutations in NaPi-IIc were shown to cause hereditary hypophosphatemic rickets with hypercalciuria. 17976082 2007
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.680 AlteredExpression phenotype BEFREE It is characterized by renal phosphate wasting, leading to hypophosphatemia and an inappropriately normal or low serum level of 1,25(OH)2 vitamin D. Previous studies have pointed to a circulating factor or phosphatonin-inhibiting phosphate transport by decreasing mRNA of the proximal tubule NaP(i) cotransporter NaPi-2A. 15454393 2005
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.680 Biomarker phenotype CTD_human Homozygous mutants (Npt2(-/-)) exhibit increased urinary Pi excretion, hypophosphatemia, an appropriate elevation in the serum concentration of 1,25-dihydroxyvitamin D with attendant hypercalcemia, hypercalciuria and decreased serum parathyroid hormone levels, and increased serum alkaline phosphatase activity. 9560283 1998
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.680 Biomarker phenotype BEFREE These findings exclude NPT2 as a candidate gene for murine and human X-linked hypophosphatemias and suggest that genes at the Hyp, Gy and XLH (HYP) loci are involved in regulation of NPT2 gene expression. 8691720 1996
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.680 Biomarker phenotype HPO