Hyperekplexia
Breed: Irish Wolfhound
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Hyperekplexia
OMIA
1594
Gene Name
SLC6A5
Mutation
4230bp microdeletion of exons 2 and 3
Test Type
Genetic Disease/Disorder
Details
Hyperekplexia is a neurological disorder. The disorder is characterized by startle responses triggered by noise or touch. Symptoms include: startle reflex, puppies who are unable to stand and have a rigid extended posture, tremor (early on), cyanosis (turning blue) while feeding, puppies that are smaller and lighter than thier unaffected littermates. Age of onset from birth, with affected puppies showing clinical signs 5 to 7 days after birth. The symptoms appear to cease when the animals are sleeping or are relaxed. Some of the abnormalities appear more severe in male puppies than in the female.
Details 2
Hyperekplexia is a neurological disorder. The disorder is characterized by prominent startle responses triggered by noise or touch. Symptoms include: prominent startle reflex, puppies who are unable to stand and have a rigid extended posture, tremor (early on), cyanosis while feeding, smaller and lighter puppies, consolidated and hemorrhagic lungs and dilated esophagus. Age of onset from birth, with affected puppies exhibiting clinical signs 5 to 7 days after birth. The symptoms appear to cease when the animals are sleeping or are relaxed. Some of the abnormalities appear more severe in male puppies than in the female.
Published
Gill, JL., Capper, D., Vanbellinghen, JF., Chung, SK., Higgins, RJ., Rees, MI., Shelton, GD., Harvey, RJ. : Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. Neurobiol Dis 43:184-9, 2011. Pubmed reference: 21420493. DOI: 10.1016/j.nbd.2011.03.010.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Irish Wolfhound
HSP Test-Specific Data
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Startle disease
Gene Name
SLC6A5
Mutation
4230bp microdeletion of exons 2 and 3
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gill, JL., Capper, D., Vanbellinghen, JF., Chung, SK., Higgins, RJ., Rees, MI., Shelton, GD., Harvey, RJ. : Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transpo
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
160
GTP Breed
Irish Wolfhound
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Startle disease
Gene Name
SLC6A5
Mutation
4230bp microdeletion of exons 2 and 3
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gill, JL., Capper, D., Vanbellinghen, JF., Chung, SK., Higgins, RJ., Rees, MI., Shelton, GD., Harvey, RJ. : Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transpo
Inheritance
AR
FCI Number
160
GTP Breed
Irish Wolfhound
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Startle disease
Gene Name
SLC6A5
Mutation
4230bp microdeletion of exons 2 and 3
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gill, JL., Capper, D., Vanbellinghen, JF., Chung, SK., Higgins, RJ., Rees, MI., Shelton, GD., Harvey, RJ. : Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transpo
Inheritance
AR
FCI Number
160
GTP Breed
Irish Wolfhound
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Startle disease
Gene Name
SLC6A5
Mutation
4230bp microdeletion of exons 2 and 3
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gill, JL., Capper, D., Vanbellinghen, JF., Chung, SK., Higgins, RJ., Rees, MI., Shelton, GD., Harvey, RJ. : Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transpo
Inheritance
AR
FCI Number
160
GTP Breed
Irish Wolfhound
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Startle disease
Gene Name
SLC6A5
Mutation
4230bp microdeletion of exons 2 and 4
Nature of test
mutation test
FCI Number
160
GTP Breed
Irish Wolfhound
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel
Breed
OMIA
GTP Disease Name
Startle disease
Gene Name
SLC6A5
Mutation
4230bp microdeletion of exons 2 and 3
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gill, JL., Capper, D., Vanbellinghen, JF., Chung, SK., Higgins, RJ., Rees, MI., Shelton, GD., Harvey, RJ. : Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transpo
Inheritance
AR
FCI Number
160
GTP Breed
Irish Wolfhound
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