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Acral Mutilation Syndrome
Breed: English Pointer
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
Acral Mutilation Syndrome
OMIA
1514
Gene Name
GDNF
Mutation
chr4.g.70,875,561C>T
Test Type
Genetic Disease/Disorder
Details
A neurological disorder in which the nerves leading to the feet degenerate resulting in insensitivity to pain in legs and feet, sometimes accompanied by swelling, micro fractures, feet ulceration and discomfort. Affected dogs are prone to excessive licking, chewing and self-mutilation. The condition is sometimes detected soon after birth, typically symptoms become obvious by 4 -5 months.
Details 2
As summarised by Plassais et al. (2016): " Clinical signs appear in young puppies and consist of acral analgesia, with or without sudden intense licking, biting and severe self-mutilation of the feet, whereas proprioception, motor abilities and spinal reflexes remain intact"
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
English Pointer, English Springer Spaniel, French Spaniel, German Shorthair Pointer
HSP Test-Specific Data
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
Gene Name
GDNF
Mutation
chr4.g.70,875,561C>T
Nature of test
mutation test
FCI Number
1
GTP Breed
English Pointer
Canine Genetic Testing
GTP
GTP Name
Canine Genetic Testing
Breed
OMIA
Gene Name
GDNF
Mutation
chr4.g.70,875,561C>T
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
GDNF
Mutation
chr4.g.70,875,561C>T
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
AMS
Gene Name
GDNF
Mutation
This variant, located 90 kb upstream of the GDNF gene, a highly relevant neurotrophic factor candidate gene, lies in [the last exon of] a long intergenic non-coding RNAs (lincRNA), GDNF-AS
Mutation Comment
g.70875561C>T
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
GDNF
Mutation
chr4.g.70,875,561C>T
Nature of test
mutation test
FCI Number
1
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
GDNF
Mutation
chr4.g.70,875,561C>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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