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.

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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

SOURCES: OMIM ORPHANET

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


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

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

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

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

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

Hypokalemic Periodic Paralysis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CACNA1S gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Malignant Hyperthermia Panel

Germany.

By MGZ Medical Genetics Center Malignant Hyperthermia that also includes the following genes: RYR1 CACNA1S

More info about this panel

Hyperkalemic Periodic Paralysis Type 1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the CACNA1S gene.

More info about this panel

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

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

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

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

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

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

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

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

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

Malignant Hyperthermia Panel Panel

Germany.

By CeGaT GmbH Malignant Hyperthermia Panel that also includes the following genes: RYR1 CACNA1S

More info about this panel

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

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

Malignant Hyperthermia, CACNA1S Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the CACNA1S gene.

More info about this panel

CACNA1S-Related Malignant Hyperthermia Susceptibility Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the CACNA1S gene.

More info about this panel

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

Hypokalemic periodic paralysis Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CACNA1S gene.

More info about this panel

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

Hypokalemic periodic paralysis Panel

Slovakia.

By MedGene

This panel specifically test the CACNA1S gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

CACNA1S Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CACNA1S gene.

More info about this panel

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

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

Hypokalemic periodic paralysis, type 1 Panel

Spain.

By Bioarray

This panel specifically test the CACNA1S gene.

More info about this panel

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

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

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

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

Hypokalemic Periodic Paralysis , Sequencing CACNA1S Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CACNA1S gene.

More info about this panel

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

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

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

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

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

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

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

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

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


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