Generic Phene Data
General
Disease Name
Malignant Hyperthermia
OMIA
621
Gene Name
RYR1
Mutation
T to C substitution
Mutation 2
c.1640T>C
OMIM
145600
Disease Code
MH
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Canine stress syndroe
Details
Hyperthermia is a challenging condition as many dogs present as outwardly healthy. Affected dogs develop signs primarily in response to chemical triggers, worsened by stress. Symptoms include: hypercapnea, tachycardia, and hyperthermia during general anesthesia, progressing to: cardiac dysrhythmia, rhabdomyolysis, renal failure, and death. Although thought to be uncommon, it is difficult to estimate because dogs appear normal until exposed to a trigger, and may die before diagnosis.
Details 2
Hyperthermia is a challenging condition as many dogs present as outwardly healthy. Affected dogs develop signs primarily in response to chemical triggers, worsened by stress. Symptoms include: hypercapnea, tachycardia, and hyperthermia during general anesthesia, progressing to: cardiac dysrhythmia, rhabdomyolysis, renal failure, and death. Although thought to be uncommon, it is difficult to estimate because dogs appear normal until exposed to a trigger, and may die before diagnosis.
Published
Roberts, M.C., Mickelson, J.R., Patterson, E.E., Nelson, T.E., Armstrong, P.J., Brunson, D.B., Hogan, K. : Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1) Anesthesiology 95:716-725, 2001. Pubmed reference: 11575546.
Published 2
Adami, C., Axiak, S., Raith, K., Spadavecchia, C. : Unusual perianesthetic malignant hyperthermia in a dog. J Am Vet Med Assoc 240:450-3, 2012. Pubmed reference: 22309018. DOI: 10.2460/javma.240.4.450.
Body/System/Process
Muscular
OMIA Url
Inheritance
AD
Gene Name Text
ryanodine receptor 1 (skeletal)
Breed Specific Data
EVG Diagnostics
Link to GTP
GTP
Breed
Gene Name
RYR1
Mutation
c.1640T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Anesthesiology 9 2001, Vol.95, 716-725.
Genomia s.r.o
Link to GTP
GTP
Breed
GTP Disease Name
Canine stress syndrome
Gene Name
RYR-1
Mutation
c.1640T>C
Nature of test
mutation test
