CLCN1 gene related symptoms and diseases
All the information presented here about the CLCN1 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 CLCN1 gene
Symptoms // Phenotype | % Cases |
---|---|
Myotonia | Very Common - Between 80% and 100% cases |
Percussion myotonia | Common - Between 50% and 80% cases |
Muscle weakness | Common - Between 50% and 80% cases |
Pain | Common - Between 50% and 80% cases |
Myotonia with warm-up phenomenon | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with CLCN1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Myalgia
- EMG: myotonic runs
- Muscle stiffness
- Skeletal muscle hypertrophy
- Lid lag on downgaze
- Handgrip myotonia
Not very common - Between 30% and 50% cases
- EMG abnormality
- Hypothyroidism
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CLCN1 gene
Here you will find a list of rare diseases related to the CLCN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
THOMSEN AND BECKER DISEASE
Alternate names
THOMSEN AND BECKER DISEASE Is also known as myotonia congenita
Description
Myotonia congenita is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
Most common symptoms of THOMSEN AND BECKER DISEASE
- EMG abnormality
- Myotonia
More info about THOMSEN AND BECKER DISEASE
SOURCES: ORPHANET
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
Alternate names
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE Is also known as becker disease, myotonia, generalized
Description
Autosomal recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness (Koch et al., 1993). Becker disease is more common and more severe than Thomsen disease.
Most common symptoms of MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
- Muscle weakness
- Pain
- Flexion contracture
- Fever
- Dysphagia
More info about MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
SOURCES: OMIM
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
Alternate names
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT Is also known as thomsen disease, thd
Description
Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction (Sun et al., 2001). Thomsen disease is less common and less severe than Becker disease.See also paramyotonia congenita (PMC ) and potassium-aggravated myotonia (OMIM ), overlapping phenotypes caused by mutations in the SCN4A gene (OMIM ).
Most common symptoms of MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
- Muscle weakness
- Pain
- Hypothyroidism
- Myalgia
- Paralysis
More info about MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
SOURCES: OMIM
Search interest in CLCN1
Potential gene panels for CLCN1 gene
CLCN1 DNA Sequencing Test Panel

By Athena Diagnostics Inc
This panel specifically test the CLCN1 gene.
More info about this panel
Early Onset Myotonia Evaluation Panel

By Athena Diagnostics Inc Early Onset Myotonia Evaluation that also includes the following genes: SCN4A CLCN1 DMPK
More info about this panel
Myotonic Syndrome Advanced Evaluation Panel

By Athena Diagnostics Inc Myotonic Syndrome Advanced Evaluation that also includes the following genes: SCN4A CNBP CAV3 CLCN1 DMPK HSPG2 ATP2A1
More info about this panel
Neuromuscular Disorders Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panel
CLCN1. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CLCN1 gene.
More info about this panel
Myotonia congenita (deletion/duplication analysis of CLCN1 gene) Panel

By CGC Genetics
This panel specifically test the CLCN1 gene.
More info about this panel
Non-dystrophic myotonias (NGS panel for 11 genes) Panel

By CGC Genetics Non-dystrophic myotonias (NGS panel for 11 genes) that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 KCNJ18 HINT1 HSPG2 KCNA1 KCNE3
More info about this panel
Myotonia congenita (sequence analysis of CLCN1 gene) Panel

By CGC Genetics
This panel specifically test the CLCN1 gene.
More info about this panel
Comprehensive Neuromuscular Sequencing Panel Panel

By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel
Myotonia Congenita via CLCN1 Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics
This panel specifically test the CLCN1 gene.
More info about this panel
Muscle Pain - fluctuating CK - Rhabdomyolysis Panel

By MGZ Medical Genetics Center Muscle Pain - fluctuating CK - Rhabdomyolysis that also includes the following genes: RYR1 SCN4A TTN TTR LPIN1 CACNA1S FKRP CLCN1 CPT2 ANO5
More info about this panel
Myotonia Congenita Panel

By MGZ Medical Genetics Center
This panel specifically test the CLCN1 gene.
More info about this panel
Myotonia Panel

By MGZ Medical Genetics Center Myotonia that also includes the following genes: SCN4A ACTA1 CAV3 CLCN1 GAA HINT1 HSPG2 CAVIN1
More info about this panel
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panel
Myotonia congenita Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the CLCN1 gene.
More info about this panel
AllNeuro panel Panel

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel
Non-dystrophic myotonia congenita panel Panel

By Centogene AG - the Rare Disease Company Non-dystrophic myotonia congenita panel that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 HINT1 HSPG2 KCNA1 KCNE3 ATP2A1
More info about this panel
Myotonia Panel Panel

By CeGaT GmbH Myotonia Panel that also includes the following genes: SCN4A CAV3 CLCN1 HINT1 ATP2A1
More info about this panel
Dystonia All Panel Panel

By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panel
Single gene testing CLCN1 Panel

By CeGaT GmbH
This panel specifically test the CLCN1 gene.
More info about this panel
Myotonia congenita Becker Panel

By Praxis fuer Humangenetik Wien
This panel specifically test the CLCN1 gene.
More info about this panel
Myotonia congenita Thomson Panel

By Praxis fuer Humangenetik Wien
This panel specifically test the CLCN1 gene.
More info about this panel
CLCN1 Gene Sequencing Panel

By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the CLCN1 gene.
More info about this panel
qCarrier Plus Panel

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel
Myotonia congenita Thomson Panel

By MedGene
This panel specifically test the CLCN1 gene.
More info about this panel
Myotonia congenita Becker Panel

By MedGene
This panel specifically test the CLCN1 gene.
More info about this panel
Invitae Comprehensive Neuromuscular Disorders Panel Panel

By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panel
Invitae Myotonia and Paramyotonia Congenita Panel Panel

By Invitae Invitae Myotonia and Paramyotonia Congenita Panel that also includes the following genes: SCN4A CLCN1
More info about this panel
Myotonia congenita: CLCN1 gene sequence analysis Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CLCN1 gene.
More info about this panel
Non-dystrophic myotonias Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Non-dystrophic myotonias that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 KCNJ18 HINT1 HSPG2 KCNA1 KCNE3
More info about this panel
Nuclear-Mito NGS Panel Panel

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
CLCN1 Panel

By Fulgent Genetics Fulgent Genetics
This panel specifically test the CLCN1 gene.
More info about this panel
Periodic Paralysis Panel Panel

By Blueprint Genetics Periodic Paralysis Panel that also includes the following genes: SCN4A CACNA1S CLCN1 KCNJ2
More info about this panel
Comprehensive Metabolism Panel Panel

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel
Myotonia congenita Panel

By Bioarray
This panel specifically test the CLCN1 gene.
More info about this panel
MYOTONIA CONGENITA (THOMSEN AND BECKER DISEASE) Panel

By Laboratorio de Genetica Clinica SL
This panel specifically test the CLCN1 gene.
More info about this panel
MYOTONIA CONGENITA NGS PANEL Panel

By Laboratorio de Genetica Clinica SL MYOTONIA CONGENITA NGS PANEL that also includes the following genes: SCN4A CACNA1S CAV3 CLCN1 HINT1 HSPG2 KCNA1 KCNE3 ATP2A1
More info about this panel
Myotonia congenita Panel

By LifeLabs Genetics
This panel specifically test the CLCN1 gene.
More info about this panel
Thomsen and Becker Myotonia , Sequencing CLCN1 Gene Panel

By Reference Laboratory Genetics
This panel specifically test the CLCN1 gene.
More info about this panel
Thomsen and Becker Myotonia , Deletions-Duplications (MLPA) CLCN1 Gene Panel

By Reference Laboratory Genetics
This panel specifically test the CLCN1 gene.
More info about this panel
Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes Panel

By Reference Laboratory Genetics Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 HSPG2 KCNA1 KCNE3 ATP2A1
More info about this panel
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel

By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel

By Reference Laboratory Genetics Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes that also includes the following genes: RYR1 SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A ST3GAL3 ST3GAL5 SPTAN1
More info about this panel
Congenital myotonia, autosomal dominant; Thomsen disease Panel

By Labor Dr. Wisplinghoff
This panel specifically test the CLCN1 gene.
More info about this panel
Congenital myotonia, autosomal recessive; Becker disease Panel

By Labor Dr. Wisplinghoff
This panel specifically test the CLCN1 gene.
More info about this panel
Myotonia Congenita: gene sequencing Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the CLCN1 gene.
More info about this panel
Myotonia Congenita: gene deletion/duplication Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the CLCN1 gene.
More info about this panel
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYLK DOCK8 ADA2 FOXF1