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Genes (23)
Species: human : 23 | |
Human | CLDN19 | 149461 | claudin 19 | | Human | SLC34A3 | 142680 | solute carrier family 34 (type II sodium/phosphate contransporter), member 3 | Hereditary hypophosphatemic rickets with hypercalciuria were speculated to be associated with the abnormal functions of phosphate transporter gene type IIc A novel missense mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in humans Loss of function of the SLC34A3 protein presumably results in a primary renal tubular defect and is compatible with the hereditary hypophosphatemic rickets with hypercalciuria phenotype Heterozygotes have milder metabolic defect with increased serum 1,25(OH)2D3 and hypercalciuria, but no bone disease or rickets | Human | WNK4 | 65266 | WNK lysine deficient protein kinase 4 | WNK4 positively regulates TRPV5-mediated Ca transport & inhibitory effect of thiazide-sensitive Na+Cl- cotransporter on this process may be involved in pathogenesis of hypercalciuria of familial hyperkalemic hypertension caused by gene mutation in WNK4 | Human | NOD2 | 64127 | nucleotide-binding oligomerization domain containing 2 | | Human | TRPV5 | 56302 | transient receptor potential cation channel, subfamily V, member 5 | does not play a primary role in autosomal dominant hypercalciuria | Human | BTNL2 | 56244 | butyrophilin-like 2 (MHC class II associated) | | Human | ADCY10 | 55811 | adenylate cyclase 10 (soluble) | | Human | TRPV6 | 55503 | transient receptor potential cation channel, subfamily V, member 6 | The ancestral gain-of-function haplotype in TRPV6 plays a role in calcium stone formation in certain forms of absorptive hypercalciuria | Human | CLDN16 | 10686 | claudin 16 | Hypercalciuria and/or nephrolithiasis occurs in heterozygotes Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder caused by CLDN16 mutations | Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | ApaI, & BsmI (but not FokI) polymorphisms of VDR were more common in patients with fasting idiopathic hypercalciuria & calculi, suggesting a genetic association between 3' VDR alleles, hypercalciuria, & reduced bone mass density in these patients | Human | TGFB1 | 7040 | transforming growth factor, beta 1 | | Human | SLC34A1 | 6569 | solute carrier family 34 (type II sodium/phosphate contransporter), member 1 | mutations in the NPT2 gene may contribute to nephrocalcinosis in a subset of patients with familial hypercalciuria | Human | SLC12A1 | 6557 | solute carrier family 12 (sodium/potassium/chloride transporter), member 1 | | Human | PTH1R | 5745 | parathyroid hormone 1 receptor | | Human | OCRL | 4952 | oculocerebrorenal syndrome of Lowe | Female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only | Human | ND4L | 4539 | NADH dehydrogenase, subunit 4L (complex I) | Point mutation of PCLN-1 is associated with familial hypomagnesemia with hypercalciuria | Human | KCNJ1 | 3758 | potassium inwardly-rectifying channel, subfamily J, member 1 | | Human | HLA-DRB1 | 3123 | | | Human | CLCN5 | 1184 | chloride channel, voltage-sensitive 5 | Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only CLCN5 mutation should be considered irrespective of the presence of hypercalciuria in a patient with low molecular weight proteinuria Female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only Female carriers may have asymptomatic proteinuria or hypercalciuria | Human | CFTR | 1080 | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) | | Human | CASR | 846 | calcium-sensing receptor | R990G polymorphism of CASR does produce a gain-of-function and predispose to primary hypercalciuria Because the activation of CaSR by oral calcium and peptones directly induces gastrin release, the higher gastrin responses to these stimuli suggest an increased sensitivity of gastrin-secreting cells CaSR in patients with hypercalciuria | Human | ATP7B | 540 | ATPase, Cu++ transporting, beta polypeptide | | Human | ALPL | 249 | alkaline phosphatase, liver/bone/kidney | |
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