Malignant hyperthermia, susceptibility to, 5
- Synonyms
- CACNA1S-Related Malignant Hyperthermia Susceptibility; Malignant hyperpyrexia susceptibility type 5; Malignant hyperthermia susceptibility type 5
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Henry Rosenberg
- Nyamkhishig Sambuughin
- Sheila Riazi
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (37 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Fever
Fever
- MedGen UID: 5169
- Concept ID: C0015967
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Malignant hyperthermia
Malignant hyperthermia
- MedGen UID: 1830388
- Concept ID: C5779784
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Fever
- Abnormality of the cardiovascular system
- Tachycardia
Tachycardia
- MedGen UID: 21453
- Concept ID: C0039231
- Finding: Finding
Abnormality of the cardiovascular system
- Tachycardia
- Abnormality of the respiratory system
- Hypercapnia
Hypercapnia
- MedGen UID: 9359
- Concept ID: C0020440
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Hypercapnia
- ACMG ACT, 2019American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, RYR1 and CACNA1S Pathogenic Variants (Malignant Hyperthermia), 2019
- Orphanet, 2013Orphanet Emergency Guidelines: Malignant hyperthermia
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