Genopathy
Gene-Disorder Association · Article
Gene
CACNA1S
Calcium Voltage-Gated Channel Subunit Alpha1 S
Disorder
Malignant Hyperthermia 5
First reported 2010
Supporting publications 60
Key publication · gene–disorder A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene.Canadian journal of anaesthesia = Journal canadien d'anesthesie · 2010
Key publication · disorder Muscle contractures and adenosine triphosphate depletion in porcine malignant hyperthermia.Anesthesia and analgesia · 1979
Manually curated
Association Review

In brief

The association between CACNA1S (Calcium Voltage-Gated Channel Subunit Alpha1 S) and Malignant Hyperthermia 5 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, causative variation, and a susceptibility locus.

Sources 4
Clinical variants 2,744
Symptoms 10
Compounds 0
Trials 0
Publications 60
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
CACNA1S

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

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04
Malignant Hyperthermia 5

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

4 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

2,744 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

60 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

15 references

Every source and publication cited across this dossier, as one numbered reference list.

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