malignant hyperthermia, susceptibility to, 1
Findings
No curated finding names malignant hyperthermia, susceptibility to, 1 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 RYR1 gene.
Definition from the Mondo Disease Ontology (MONDO:0007783), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
9 features
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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- HyperkalemiaHPOHP:0002153
- HyperphosphatemiaHPOHP:0002905
- HypotensionHPOHP:0002615
- Malignant hyperthermiaHPOHP:0002047
- MyoglobinuriaHPOHP:0002913
- RhabdomyolysisHPOHP:0003201
- RigidityHPOHP:0002063
- TachycardiaHPOHP:0001649
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.
- RYR1HGNC:10483
- Definitive · Ambry Genetics · Autosomal dominant · 2015
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: malignant hyperthermia, susceptibility to, 1
- Also called
- malignant hyperthermia of anaesthesia caused by mutation in RYR1malignant hyperthermia of anesthesia caused by mutation in RYR1malignant hyperthermia susceptibility 1malignant hyperthermia, susceptibility to, type 1RYR1 malignant hyperthermia of anaesthesiaRYR1 malignant hyperthermia of anesthesia