Malignant hyperthermia, susceptibility to, 1
- Synonyms
- Anesthesia related hyperthermia; Fulminating hyperpyrexia; Malignant hyperpyrexia; Malignant hyperthermia suceptibility 1; Pharmacogenic myopathy; RYR1-Related Malignant Hyperthermia Susceptibility
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 (47 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Abnormality of the coagulation cascade
Abnormality of the coagulation cascade
- MedGen UID: 604
- Concept ID: C0005779
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Abnormality of the coagulation cascade
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperkalemia
Hyperkalemia
- MedGen UID: 5691
- Concept ID: C0020461
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperphosphatemia
Hyperphosphatemia
- MedGen UID: 39326
- Concept ID: C0085681
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Malignant hyperthermia
Malignant hyperthermia
- MedGen UID: 1830388
- Concept ID: C5779784
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Mixed respiratory and metabolic acidosis
Mixed respiratory and metabolic acidosis
- MedGen UID: 333546
- Concept ID: C1840372
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the cardiovascular system
- Hypotension
Hypotension
- MedGen UID: 5715
- Concept ID: C0020649
- Finding: Finding
Abnormality of the cardiovascular system
- Tachycardia
Tachycardia
- MedGen UID: 21453
- Concept ID: C0039231
- Finding: Finding
Abnormality of the cardiovascular system
- Hypotension
- Abnormality of the genitourinary system
- Hereditary myoglobinuria
Hereditary myoglobinuria
- MedGen UID: 44557
- Concept ID: C0027080
- Finding: Finding
Abnormality of the genitourinary system
- Hereditary myoglobinuria
- Abnormality of the musculoskeletal system
- Rhabdomyolysis
Rhabdomyolysis
- MedGen UID: 19775
- Concept ID: C0035410
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Rigidity
Rigidity
- MedGen UID: 7752
- Concept ID: C0026837
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Rhabdomyolysis
- Sei et al., 2004Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002.
- 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
- EuroGenetest, 2011Clinical utility gene card for: malignant hyperthermia
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