Nephrolithiasis/osteoporosis, Hypophosphatemic, 2; Nphlop2
Genes related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 2; Nphlop2
- SLC9A3R1
Clinical Features
Phenotypes and symptoms related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 2; Nphlop2
- Osteoporosis
- Osteopenia
- Nephrolithiasis
- Reduced bone mineral density
- Increased susceptibility to fractures
- Hypophosphatemia
- Glycosuria
- Hyperphosphaturia
- Renal phosphate wasting
- Calcium nephrolithiasis
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Nephrolithiasis/osteoporosis, Hypophosphatemic, 2; Nphlop2 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
SLC9A3R1 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
SLC9A3R1
Specificity
100 %
Genes
100 % |
SLC9A3R1 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC9A3R1
Specificity
100 %
Genes
100 % |
SLC9A3R1 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC9A3R1
Specificity
100 %
Genes
100 % |
SLC9A3R1 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC9A3R1
Specificity
100 %
Genes
100 % |
Low Bone Mass Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (sequence analysis of SLC9A3R1 gene).
By CGC Genetics (Portugal).
SLC9A3R1
Specificity
100 %
Genes
100 % |
Hypophosphatemic Nephrolithiasis/Osteoporosis-2 (NPHLOP2) via SLC9A3R1 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SLC9A3R1
Specificity
100 %
Genes
100 % |
You can get up to 14 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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