SLC34A3 gene related symptoms and diseases
All the information presented here about the SLC34A3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC34A3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Renal tubular dysfunction | Very Common - Between 80% and 100% cases |
| Hypophosphatemia | Very Common - Between 80% and 100% cases |
| Bowing of the legs | Very Common - Between 80% and 100% cases |
| Metaphyseal irregularity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC34A3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Rickets
- Elevated alkaline phosphatase
- Hypercalciuria
- Osteomalacia
- Bone pain
- Tibial bowing
- Femoral bowing
- Hypophosphatemic rickets
And 58 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC34A3 gene
Here you will find a list of rare diseases related to the SLC34A3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA
Alternate names
HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA Is also known as hypophosphatemia, x-linked, hpdr, hhrh, hyp, xlh, hypophosphatemic vitamin d-resistant rickets, vitamin d-resistant rickets, x-linked
Description
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.
Most common symptoms of HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA
- Short stature
- Hearing impairment
- Growth delay
- Neoplasm
- Sensorineural hearing impairment
More info about HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH
Alternate names
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH Is also known as hypercalciuric rickets
Description
Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006).
Most common symptoms of HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH
- Short stature
- Generalized hypotonia
- Growth delay
- Failure to thrive
- Muscle weakness
More info about HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH
SOURCES: OMIM
Search interest in SLC34A3
Potential gene panels for SLC34A3 gene
Hypophosphatemic Rickets Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypophosphatemic Rickets Deletion/Duplication Panel that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panel United States.
Hypophosphatemic Rickets Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypophosphatemic Rickets Sequencing Panel that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panel United States.
ExomePLUS Electrolyte & Kidney Stone Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panel United States.
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Osteogenesis Imperfecta & Low Bone Mass Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 CASR SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panel United States.
Rickets (NGS panel for 10 genes) Panel
Portugal.
By CGC Genetics Rickets (NGS panel for 10 genes) that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panel Portugal.
Hypophosphatemic rickets (sequence analysis of SLC34A3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC34A3 gene.
More info about this panel Portugal.
hypophosphatemic rickets with hypercalciuria Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC34A3 gene.
More info about this panel Germany.
Hypophosphatemic rickets with hypercalciuria Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC34A3 gene.
More info about this panel Germany.
Hereditary Hypophosphatemic Rickets with Hypercalciuria Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the SLC34A3 gene.
More info about this panel United Kingdom.
Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS
More info about this panel United States.
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SLC34A3 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panel United States.
Hypophosphatemic Rickets with Hypercalciuria via SLC34A3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC34A3 gene.
More info about this panel United States.
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Abnormal mineralization disorders Comprehensive Panel Panel
United States.
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 panel United States.
Abnormal mineralization disorders Deletion/ Duplication Panel Panel
United States.
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 panel United States.
Abnormal mineralization disorders NGS panel Panel
United States.
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 panel United States.
Nephrolithiasis and related disorders NGS panel Panel
United States.
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 panel United States.
Nephrolithiasis and related disorders Comprehensive panel Panel
United States.
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 panel United States.
Nephrolithiasis and related disorders Deletion / Duplication panel Panel
United States.
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 panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
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 panel Germany.
Solute carrier family 34 (type II sodium/phosphate contransporter), member 3 (SLC34A3) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the SLC34A3 gene.
More info about this panel Netherlands.
Hypophosphatemic rickets with hypercalciuria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC34A3 gene.
More info about this panel Germany.
Hypophosphatemic rickets Panel Panel
Germany.
By CeGaT GmbH Hypophosphatemic rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 DMP1 ENPP1 FAH FGF23 KL OCRL
More info about this panel Germany.
Skeletal dysplasia with abnormal mineralization Panel Panel
Germany.
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 panel Germany.
Hypophosphatemic rickets with hypercalciuria, hereditary: SLC34A3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC34A3 gene.
More info about this panel Spain.
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10
More info about this panel United States.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panel United States.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
SLC34A3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC34A3 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
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 panel United States.
Hypophosphatemic Rickets Panel Panel
Finland.
By Blueprint Genetics Hypophosphatemic Rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FAH FGF23
More info about this panel Finland.
Osteogenesis Imperfecta Panel Panel
Finland.
By Blueprint Genetics Osteogenesis Imperfecta Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panel Finland.
Skeletal Dysplasias Core Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Skeletal Dysplasia with Abnormal Mineralization Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5
More info about this panel Finland.
Nephrolithiasis Panel Panel
Finland.
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 panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC34A3 gene.
More info about this panel Spain.
FAMILIAL HYPOPHOSPHATEMIC RICKETS: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL HYPOPHOSPHATEMIC RICKETS: NGS PANEL that also includes the following genes: SLC34A3 DMP1 ENPP1 FGF23 PHEX
More info about this panel Spain.
HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS): NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS): NGS PANEL that also includes the following genes: SLC34A3 DMP1 ENPP1 FGF23 PHEX
More info about this panel Spain.
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC34A3 gene.
More info about this panel Spain.
Hereditary Hypophosphatemic Rickets with Hypercalciuria , Sequencing SLC34A3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC34A3 gene.
More info about this panel Spain.
Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC34A3 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panel Spain.
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel
Spain.
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 panel Spain.
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