Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Susceptibility to malignant hyperthermia 5

Susceptibility to malignant hyperthermia type 5 is an autosomal dominant trait inherited with mutation in the CACNA1S gene.

Systematic

Autoinflammatory disease
Autoinflammation with arthritis and dyskeratosis
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
Cherubism
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Cryopyrin-associated periodic syndrome
Familial mediterranean fever
Familiäres kälteinduziertes autoinflammatorisches Syndrom
Hereditary pediatric Behçet-like disease
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Inflammatory bowel disease
Interleukin 10 deficiency
Interleukin 10 receptor deficiency
Interleukin-1 receptor antagonist deficiency
Majeed syndrome
Mevalonate kinase-associated inflammatory diseases
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Proteasome-associated autoinflammatory syndrome
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Rheumatoid arthritis progression
STING-associated vasculopathy with onset in infancy
Susceptibility to malignant hyperthermia 5
CACNA1S
Systemic-onset juvenile idiopathic arthritis
TNF receptor-associated periodic syndrome
Vasculitis due to ADA2 deficiency

References:

1.

Monnier N et al. (1997) Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

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2.

Robinson RL et al. (1997) A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.

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3.

OMIM.ORG article

Omim 601887 [^]
Update: April 29, 2019