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Malignant Hyperthermia
Breed: ALL
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Malignant Hyperthermia
OMIA
621
Gene Name
RYR1
Mutation
T to C substitution
Mutation 2
c.1640T>C
Test Type
Genetic Disease/Disorder
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
Breed Specific Info
Researched Breeds
Collie, Doberman, English Springer Spaniel, German Shepherd Dog, Greyhound, Labrador Retriever, Pointer, Saint Bernard
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
RYR-1
Mutation
c.1640T>C
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
RYR-1
Mutation
c.1640T>C
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
RYR-1
Mutation
c.1640T>C
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
RYR-1
Mutation
c.1640T>C
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
RYR-1
Mutation
c.1640T>C
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
RYR-1
Mutation
c.1640T>C
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Canine stress syndrome
Gene Name
RYR-1
Mutation
c.1640T>C
Mutation Comment
g.114562165A>G
Nature of test
mutation test
FCI Number
-20
GTP Breed
ALL
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
RYR-1
Mutation
c.1640T>C
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
RYR-1
Mutation
c.1640T>C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
RYR-1
Mutation
c.1640T>C
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
Canine stress syndrome
Gene Name
RYR-1
Mutation
c.1640T>C
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
RYR-1
Mutation
c.1640T>C
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
RYR-1
Mutation
c.1640T>C
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