CACNA1S gene related symptoms and diseases
All the information presented here about the CACNA1S gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CACNA1S gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Myotonia | Uncommon - Between 30% and 50% cases |
| Episodic flaccid weakness | Uncommon - Between 30% and 50% cases |
| Paralysis | Uncommon - Between 30% and 50% cases |
| Hypokalemia | Uncommon - Between 30% and 50% cases |
| Palpitations | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CACNA1S gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Muscle weakness
- Episodic hypokalemia
- Periodic paralysis
- Respiratory paralysis
- Tachycardia
- Late-onset proximal muscle weakness
- Increased intramyocellular lipid droplets
- Periodic hypokalemic paresis
And 76 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CACNA1S gene
Here you will find a list of rare diseases related to the CACNA1S. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MALIGNANT HYPERTHERMIA OF ANESTHESIA
Alternate names
MALIGNANT HYPERTHERMIA OF ANESTHESIA Is also known as hyperthermia of anesthesia
Description
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.
Most common symptoms of MALIGNANT HYPERTHERMIA OF ANESTHESIA
- Fever
- Metabolic acidosis
- Muscle stiffness
- Ventricular tachycardia
- Tachypnea
More info about MALIGNANT HYPERTHERMIA OF ANESTHESIA
SOURCES: ORPHANET
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
Alternate names
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 Is also known as mhs5
Most common symptoms of MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
- Fever
- Tachycardia
- Hypercapnia
More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
SOURCES: OMIM
HYPOKALEMIC PERIODIC PARALYSIS
Alternate names
HYPOKALEMIC PERIODIC PARALYSIS Is also known as westphall disease
Description
Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.
Most common symptoms of HYPOKALEMIC PERIODIC PARALYSIS
- Paralysis
- EMG abnormality
- Myotonia
- Mildly elevated creatine phosphokinase
- Adrenocortical adenoma
More info about HYPOKALEMIC PERIODIC PARALYSIS
SOURCES: ORPHANET
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1
Alternate names
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1 Is also known as hypokalemic periodic paralysis, hokpp
Description
There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, that are distinguished by the changes in serum potassium levels during paralytic attacks. In contrast to HYPP, myotonia is usually not present in HOKPP (Jurkat-Rott et al., 2000). Hypokalemic periodic paralysis may also occur as a rare complication of thyrotoxicosis (see TTPP1, {188580}), a disorder with a high frequency in individuals of Asian descent (Kung, 2006).
Most common symptoms of HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1
- Generalized hypotonia
- Muscle weakness
- Respiratory insufficiency
- Myopathy
- Acidosis
More info about HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1
SOURCES: OMIM
THYROTOXIC PERIODIC PARALYSIS
Alternate names
THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis
Description
Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.
Most common symptoms of THYROTOXIC PERIODIC PARALYSIS
- Muscle weakness
- Hypertension
- Hyperreflexia
- Tremor
- Obesity
More info about THYROTOXIC PERIODIC PARALYSIS
PERIODIC PARALYSIS WITH TRANSIENT COMPARTMENT-LIKE SYNDROME
Description
Periodic paralysis with transient compartment-like syndrome is a rare, genetic, neuromuscular disease characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.
More info about PERIODIC PARALYSIS WITH TRANSIENT COMPARTMENT-LIKE SYNDROME
SOURCES: ORPHANET
Search interest in CACNA1S
Potential gene panels for CACNA1S gene
Malignant Hyperthermia Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Malignant Hyperthermia Advanced Sequencing Evaluation that also includes the following genes: RYR1 CACNA1S
More info about this panel United States.
Periodic Paralysis Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Periodic Paralysis Advanced Sequencing Evaluation that also includes the following genes: SCN4A CACNA1S KCNJ2
More info about this panel United States.
Neuromuscular Disorders Panel Panel
United States.
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 United States.
CACNA1S Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the CACNA1S gene.
More info about this panel United States.
CACNA1S Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the CACNA1S gene.
More info about this panel United States.
Hypokalemic Periodic Paralysis Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the CACNA1S gene.
More info about this panel Canada.
CACNA1S. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CACNA1S gene.
More info about this panel Spain.
CACNA1S. Detection of the mutations p.Arg528His, p.Arg528Gly, p.Arg897Ser, p.Arg1239His and p.Arg1239Gly by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CACNA1S gene.
More info about this panel Spain.
CACNA1S, SCN4A. NextGeneDx. Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica CACNA1S, SCN4A. NextGeneDx. Complete sequencing by NGS that also includes the following genes: SCN4A CACNA1S
More info about this panel Spain.
CACNA1S. NextGeneDx. Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CACNA1S gene.
More info about this panel Spain.
Hypokalemic periodic paralysis (sequence analysis of CACNA1S and SCN4A genes) Panel
Portugal.
By CGC Genetics Hypokalemic periodic paralysis (sequence analysis of CACNA1S and SCN4A genes) that also includes the following genes: SCN4A CACNA1S
More info about this panel Portugal.
Hypokalemic Periodic Paralysis (sequence analysis of CACNA1S gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CACNA1S gene.
More info about this panel Portugal.
Non-dystrophic myotonias (NGS panel for 11 genes) Panel
Portugal.
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 Portugal.
Primary Periodic Paralysis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Primary Periodic Paralysis Sequencing Panel with CNV Detection that also includes the following genes: SCN4A CACNA1S KCNJ2
More info about this panel United States.
Malignant Hyperthermia Susceptibility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Malignant Hyperthermia Susceptibility Sequencing Panel with CNV Detection that also includes the following genes: RYR1 CACNA1S STAC3
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
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 United States.
Custom gene seqeuncing panel Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom gene seqeuncing panel that also includes the following genes: RYR1 SDHA SDHC EPCAM TP53 TSC1 TSC2 TTR VHL CACNA1S
More info about this panel United States.
Malignant Hyperthermia panel Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Malignant Hyperthermia panel that also includes the following genes: RYR1 CACNA1S
More info about this panel United States.
Hypokaleimc Periodic Paralysis Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Hypokaleimc Periodic Paralysis that also includes the following genes: SCN4A CACNA1S
More info about this panel Argentina.
Malignant Hyperthermia- RYR1, CACNA1S Panel
Germany.
By MGZ Medical Genetics Center Malignant Hyperthermia- RYR1, CACNA1S that also includes the following genes: RYR1 CACNA1S
More info about this panel Germany.
Muscle Pain - fluctuating CK - Rhabdomyolysis Panel
Germany.
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 Germany.
Malignant Hyperthermia Panel
Germany.
By MGZ Medical Genetics Center Malignant Hyperthermia that also includes the following genes: RYR1 CACNA1S
More info about this panel Germany.
Hyperkalemic Periodic Paralysis Type 1 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the CACNA1S gene.
More info about this panel Germany.
Periodic Palsy Panel
Germany.
By MGZ Medical Genetics Center Periodic Palsy that also includes the following genes: RYR1 SCN4A CACNA1S KCNE3 KCNJ12 KCNJ2
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
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 Germany.
Malignant Hyperthermia Susceptibility Panel
Germany.
By MGZ Medical Genetics Center Malignant Hyperthermia Susceptibility that also includes the following genes: RYR1 CACNA1S
More info about this panel Germany.
Malignant hyperthermia type 5 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CACNA1S gene.
More info about this panel Germany.
Malignant hyperthermia panel Panel
Germany.
By Centogene AG - the Rare Disease Company Malignant hyperthermia panel that also includes the following genes: RYR1 CACNA1S
More info about this panel Germany.
Hypokalemic periodic paralysis type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CACNA1S gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
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 Germany.
Thyrotoxic periodic paralysis type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CACNA1S gene.
More info about this panel Germany.
Non-dystrophic myotonia congenita panel Panel
Germany.
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 Germany.
Malignant Hyperthermia Panel Panel
Germany.
By CeGaT GmbH Malignant Hyperthermia Panel that also includes the following genes: RYR1 CACNA1S
More info about this panel Germany.
Bartter Syndrome incl. differential diagnosis Panel Panel
Germany.
By CeGaT GmbH Bartter Syndrome incl. differential diagnosis Panel that also includes the following genes: SCN4A CACNA1S KCNJ18 KCNE3 KCNJ2 KCNJ5
More info about this panel Germany.
Periodic paralysis Panel Panel
Germany.
By CeGaT GmbH Periodic paralysis Panel that also includes the following genes: SCN4A CACNA1S KCNE3 KCNJ2 KCNJ5
More info about this panel Germany.
Malignant Hyperthermia, CACNA1S Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the CACNA1S gene.
More info about this panel Israel.
CACNA1S-Related Malignant Hyperthermia Susceptibility Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the CACNA1S gene.
More info about this panel Israel.
Hypokalemic periodic paralysis, CACNA1S sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the CACNA1S gene.
More info about this panel United States.
Hypokalemic periodic paralysis Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the CACNA1S gene.
More info about this panel Austria.
Hypokalemic Periodic Paralysis Type 1 Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the CACNA1S gene.
More info about this panel Italy.
Hypokalemic periodic paralysis Panel
Slovakia.
By MedGene
This panel specifically test the CACNA1S gene.
More info about this panel Slovakia.
Invitae Comprehensive Neuromuscular Disorders Panel Panel
United States.
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 United States.
Invitae Malignant Hyperthermia Susceptibility Panel Panel
United States.
By Invitae Invitae Malignant Hyperthermia Susceptibility Panel that also includes the following genes: RYR1 CACNA1S
More info about this panel United States.
Invitae Hypokalemic Periodic Paralysis Panel Panel
United States.
By Invitae Invitae Hypokalemic Periodic Paralysis Panel that also includes the following genes: SCN4A CACNA1S KCNJ2
More info about this panel United States.
Invitae Comprehensive Myopathy Panel Panel
United States.
By Invitae Invitae Comprehensive Myopathy Panel that also includes the following genes: RYR1 BIN1 SCN4A SQSTM1 STIM1 TIA1 TNNT1 TPM2 TPM3 MYOT
More info about this panel United States.
Hypokalemic periodic Paralysis: CACNA1S gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CACNA1S gene.
More info about this panel Spain.
Hypokalemic periodic Paralysis: SCN4A gene (exon 12), CACNA1S gene (exons 11, 30) screening Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypokalemic periodic Paralysis: SCN4A gene (exon 12), CACNA1S gene (exons 11, 30) screening that also includes the following genes: SCN4A CACNA1S
More info about this panel Spain.
Malignant hyperthermia: CACNA1S gene mutation analysis (R1086H) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CACNA1S gene.
More info about this panel Spain.
Hypokalemic periodic Paralysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypokalemic periodic Paralysis that also includes the following genes: SCN4A CACNA1S KCNJ18
More info about this panel Spain.
Non-dystrophic myotonias Panel
Spain.
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 Spain.
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.
CACNA1S Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CACNA1S gene.
More info about this panel United States.
Periodic Paralysis Panel Panel
Finland.
By Blueprint Genetics Periodic Paralysis Panel that also includes the following genes: SCN4A CACNA1S CLCN1 KCNJ2
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
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 Finland.
Hypokalemic periodic paralysis, type 1 Panel
Spain.
By Bioarray
This panel specifically test the CACNA1S gene.
More info about this panel Spain.
PERIODIC PARALYSIS, HYPOKALEMIC Panel
Spain.
By Laboratorio de Genetica Clinica SL PERIODIC PARALYSIS, HYPOKALEMIC that also includes the following genes: SCN4A CACNA1S KCNJ18 KCNJ2
More info about this panel Spain.
MYOTONIA CONGENITA NGS PANEL Panel
Spain.
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 Spain.
PERIODIC PARALYSIS, THYROTOXIC Panel
Spain.
By Laboratorio de Genetica Clinica SL PERIODIC PARALYSIS, THYROTOXIC that also includes the following genes: CACNA1S KCNJ18
More info about this panel Spain.
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MALIGNANT HYPERTHERMIA SUSCEPTIBILITY NGS PANEL that also includes the following genes: RYR1 CACNA1S
More info about this panel Spain.
Hypokalemic Periodic Paralysis , Sequencing CACNA1S Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CACNA1S gene.
More info about this panel Spain.
Hypokalemic Periodic Paralysis , Panel Massive Sequencing (NGS) CACNA1S and SCN4A Genes Panel
Spain.
By Reference Laboratory Genetics Hypokalemic Periodic Paralysis , Panel Massive Sequencing (NGS) CACNA1S and SCN4A Genes that also includes the following genes: SCN4A CACNA1S
More info about this panel Spain.
Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
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 Spain.
Malignant Hyperthermia , Panel Massive Sequencing (NGS) RYR1 and CACNA1S Genes Panel
Spain.
By Reference Laboratory Genetics Malignant Hyperthermia , Panel Massive Sequencing (NGS) RYR1 and CACNA1S Genes that also includes the following genes: RYR1 CACNA1S
More info about this panel Spain.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
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 Spain.
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel
Spain.
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 Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Hypokalemic Periodic Paralysis: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hypokalemic Periodic Paralysis: gene sequencing panel that also includes the following genes: SCN4A CACNA1S KCNJ18
More info about this panel Canada.
Malignant Hyperthermia Susceptibility: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Malignant Hyperthermia Susceptibility: gene sequencing panel that also includes the following genes: RYR1 CACNA1S
More info about this panel Canada.
Familial hypokalemic periodic paralysis Panel
India.
By Genetic Services Unit National Institute of Biomedical Genomics
This panel specifically test the CACNA1S gene.
More info about this panel India.
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