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Acral Mutilation Syndrome
Breed: English Cocker Spaniel
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
Inheritance
AR
Breed Specific Info
Researched Breeds
English Pointer, English Springer Spaniel, French Spaniel, German Shorthair Pointer
HSP Test-Specific Data
VetGen LLC
Orivet Genetic Pet Care
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
