malignant hyperthermia, susceptibility to, 5
Findings
No curated finding names malignant hyperthermia, susceptibility to, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene.
Definition from the Mondo Disease Ontology (MONDO:0011163), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Malignant hyperthermiaHPOHP:0002047
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CACNA1SHGNC:1397
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2017
- Moderate · ClinGen · Autosomal dominant · 2023
Where it sits
Other names
6 names
Resolves to: malignant hyperthermia, susceptibility to, 5
- Also called
- CACNA1S malignant hyperthermia of anaesthesiaCACNA1S malignant hyperthermia of anesthesiamalignant hyperthermia of anaesthesia caused by mutation in CACNA1Smalignant hyperthermia of anesthesia caused by mutation in CACNA1Smalignant hyperthermia susceptibility 5malignant hyperthermia, susceptibility to, type 5