CLCN5 gene related symptoms and diseases
All the information presented here about the CLCN5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CLCN5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Renal insufficiency | Very Common - Between 80% and 100% cases |
| Proteinuria | Very Common - Between 80% and 100% cases |
| Nephrolithiasis | Very Common - Between 80% and 100% cases |
| Low-molecular-weight proteinuria | Very Common - Between 80% and 100% cases |
| Nephrocalcinosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CLCN5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Chronic kidney disease
- Hypercalciuria
- Proximal tubulopathy
- Thin bony cortex
- Increased serum 1,25-dihydroxyvitamin D3
- Enlargement of the ankles
- Sparse bone trabeculae
- Bulging epiphyses
And 44 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CLCN5 gene
Here you will find a list of rare diseases related to the CLCN5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
Description
X-linked recessive hypophosphatemic rickets is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see {300009}.
Most common symptoms of HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
- Short stature
- Renal insufficiency
- Proteinuria
- Recurrent fractures
- Nephrolithiasis
More info about HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
SOURCES: OMIM
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
Description
Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see {300009}.
Most common symptoms of PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
- Intellectual disability
- Short stature
- Generalized hypotonia
- Muscular hypotonia
- Pain
More info about PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
DENT DISEASE TYPE 1
Alternate names
DENT DISEASE TYPE 1 Is also known as nephrolithiasis 1, nephrolithiasis, x-linked recessive, type 1, nphl1, nephrolithiasis type 1, urolithiasis, x-linked recessive, type 1
Description
Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.
Most common symptoms of DENT DISEASE TYPE 1
- Renal insufficiency
- Proteinuria
- Nephrolithiasis
- Nephrocalcinosis
- Chronic kidney disease
More info about DENT DISEASE TYPE 1
DENT DISEASE 1
Alternate names
DENT DISEASE 1 Is also known as urolithiasis, hypercalciuric, x-linked, nephrolithiasis 2, nephrolithiasis, hypercalciuric, x-linked, nphl2
Description
The term 'X-linked hypercalciuric nephrolithiasis' comprises several related forms of hereditary renal tubular disorders caused by mutations in the CLCN5 gene, including Dent disease, X-linked recessive nephrolithiasis (OMIM ), X-linked recessive hypophosphatemic rickets (OMIM ), and low molecular weight proteinuria (OMIM ). Although these disorders are allelic and are all characterized by progressive proximal renal tubulopathy with hypercalciuria, low molecular weight proteinuria, and nephrocalcinosis, they vary in degree of severity and were originally reported as separate disorders. Some have considered these disorders as phenotypic variants of a single disease, referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004).Scheinman et al. (1999) provided a comprehensive review of genetic disorders of renal electrolyte transport.
Most common symptoms of DENT DISEASE 1
- Short stature
- Renal insufficiency
- Proteinuria
- Recurrent fractures
- Nephrolithiasis
More info about DENT DISEASE 1
SOURCES: OMIM
Search interest in CLCN5
Potential gene panels for CLCN5 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.
Exome PLUS Proteinuria/FSGS & Hematuria Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Exome PLUS Proteinuria/FSGS & Hematuria that also includes the following genes: CFB TRPC6 TSC1 TSC2 C1QA C1QC WT1 C3 NPHS2 ADAMTS13
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.
CLCN5 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the CLCN5 gene.
More info about this panel United States.
CLCN5. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CLCN5 gene.
More info about this panel Spain.
Dent disease type I (sequence analysis of CLCN5 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CLCN5 gene.
More info about this panel Portugal.
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.
Dent disease 1 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the CLCN5 gene.
More info about this panel Germany.
Dent Disease (Type 1 & Type 2) Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Dent Disease (Type 1 & Type 2) that also includes the following genes: CLCN5 OCRL
More info about this panel Germany.
Dent Disease via CLCN5 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CLCN5 gene.
More info about this panel United States.
Dent Disease Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Dent Disease Sequencing Panel with CNV Detection that also includes the following genes: CLCN5 OCRL
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.
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.
Dent disease Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the CLCN5 gene.
More info about this panel Germany.
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.
Nephrology Endocrinology and Electrolytes - panels Panel
Germany.
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panel Germany.
Dent Disease 1 Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the CLCN5 gene.
More info about this panel Germany.
Nephrolithiasis type I Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CLCN5 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.
Single gene testing CLCN5 Panel
Germany.
By CeGaT GmbH
This panel specifically test the CLCN5 gene.
More info about this panel Germany.
Dent disease type 1: CLCN5 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CLCN5 gene.
More info about this panel Spain.
Dent disease: sequencing of CLCN5 and OCRL genes Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Dent disease: sequencing of CLCN5 and OCRL genes that also includes the following genes: CLCN5 OCRL
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.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
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.
CLCN5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CLCN5 gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
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.
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.
Dent disease Panel
Spain.
By Bioarray
This panel specifically test the CLCN5 gene.
More info about this panel Spain.
DENT SYNDROME/ HYPERCALCEMIC NEPHROLITHIASIS/ FAMILIAL UROLITIASIS Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CLCN5 gene.
More info about this panel Spain.
Dent Disease Type 1, Sequencing CLCN5 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CLCN5 gene.
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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