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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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. Genetic Heterogeneity of Dent DiseaseSee also Dent disease-2 (OMIM ), caused by mutation in the OCRL gene (OMIM ) on chromosome Xq26.

Most common symptoms of DENT DISEASE 1

  • Short stature
  • Renal insufficiency
  • Proteinuria
  • Recurrent fractures
  • Nephrolithiasis


More info about DENT DISEASE 1

SOURCES: OMIM


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

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

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

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

CLCN5 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the CLCN5 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Dent disease Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the CLCN5 gene.

More info about this panel

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

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

Dent Disease 1 Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the CLCN5 gene.

More info about this panel

Nephrolithiasis type I Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CLCN5 gene.

More info about this panel

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

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

Single gene testing CLCN5 Panel

Germany.

By CeGaT GmbH

This panel specifically test the CLCN5 gene.

More info about this panel

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

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

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

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

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

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

CLCN5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CLCN5 gene.

More info about this panel

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

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

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

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

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

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

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

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

Dent disease Panel

Spain.

By Bioarray

This panel specifically test the CLCN5 gene.

More info about this panel

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

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

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


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