SLC9A3R1 gene related symptoms and diseases
All the information presented here about the SLC9A3R1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC9A3R1 gene
Symptoms // Phenotype | % Cases |
---|---|
Osteoporosis | Uncommon - Between 30% and 50% cases |
Osteopenia | Uncommon - Between 30% and 50% cases |
Nephrolithiasis | Uncommon - Between 30% and 50% cases |
Reduced bone mineral density | Uncommon - Between 30% and 50% cases |
Increased susceptibility to fractures | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SLC9A3R1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypophosphatemia
- Glycosuria
- Hyperphosphaturia
- Renal phosphate wasting
- Calcium nephrolithiasis
Rare diseases associated to SLC9A3R1 gene
Here you will find a list of rare diseases related to the SLC9A3R1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; NPHLOP2
Most common symptoms of NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; NPHLOP2
- Osteoporosis
- Osteopenia
- Nephrolithiasis
- Reduced bone mineral density
- Increased susceptibility to fractures
More info about NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; NPHLOP2
DOMINANT HYPOPHOSPHATEMIA WITH NEPHROLITHIASIS OR OSTEOPOROSIS
Description
Dominant hypophosphatemia with nephrolithiasis or osteoporosis is a rare, genetic, renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels.
More info about DOMINANT HYPOPHOSPHATEMIA WITH NEPHROLITHIASIS OR OSTEOPOROSIS
SOURCES: ORPHANET
Search interest in SLC9A3R1
Potential gene panels for SLC9A3R1 gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelSLC9A3R1 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC9A3R1 gene.
More info about this panelSLC9A3R1 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC9A3R1 gene.
More info about this panelSLC9A3R1 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC9A3R1 gene.
More info about this panelSLC9A3R1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC9A3R1 gene.
More info about this panelLow Bone Mass Panel (MitomeNGS) Panel
By Baylor Miraca Genetics Laboratories Low Bone Mass Panel (MitomeNGS) that also includes the following genes: SLC34A1 SLC9A3R1 TNFRSF11A TNFRSF11B IFITM5 SP7 FKBP10 P3H1 SLC39A13 COL1A2
More info about this panelNephrolithiasis/osteoporosis, hypophosphatemic, 2 (sequence analysis of SLC9A3R1 gene) Panel
By CGC Genetics
This panel specifically test the SLC9A3R1 gene.
More info about this panelHypophosphatemic Nephrolithiasis/Osteoporosis-2 (NPHLOP2) via SLC9A3R1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC9A3R1 gene.
More info about this panelNephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panelAbnormal mineralization disorders Comprehensive Panel Panel
By Connective Tissue Gene Tests Abnormal mineralization disorders Comprehensive Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panelAbnormal mineralization disorders Deletion/ Duplication Panel Panel
By Connective Tissue Gene Tests Abnormal mineralization disorders Deletion/ Duplication Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panelAbnormal mineralization disorders NGS panel Panel
By Connective Tissue Gene Tests Abnormal mineralization disorders NGS panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panelNephrolithiasis and related disorders NGS panel Panel
By Connective Tissue Gene Tests Nephrolithiasis and related disorders NGS panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panelNephrolithiasis and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panelNephrolithiasis and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelNephrolithiasis/osteoporosis, hypophosphatemic, type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC9A3R1 gene.
More info about this panelSkeletal dysplasia with abnormal mineralization Panel Panel
By CeGaT GmbH Skeletal dysplasia with abnormal mineralization Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1
More info about this panelSLC9A3R1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC9A3R1 gene.
More info about this panelKidneySeq - 264 Genes Panel
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panelNephrolithiasis Panel Panel
By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panelAbnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel
By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KLLN TBCK COL2A1 FUZ MBD5 SSR4 SMC1A