Donate
Acral Mutilation Syndrome
Breed: French 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
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
175
GTP Breed
French Spaniel
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
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
-
HGTD Quick Search
-
The portal for Genetic Testing Providers (labs); genetic tests, and tests by breed: as well as information on quality indicators and genetic counseling resources.
GOAL: Robust genetic testing supporting health improvements & a sustainable future for healthy dogs. -
HGTD Database Resources
How to use the HGTD
Using HGTD - YouTube Videos
HGTD Quality Indicators
Acronyms - Mode of Inheritance♦ 2020-New What is a Relevance Rating?
FAQs
Answers to frequently asked questions about the HGTD
Accreditation Basics
This brief overview may help you identify what types of accreditation are important to you, when choosing your genetic test provider.
Accreditation and Industry Standards
List of organizations throughout the world that are involved in matters of accreditation and establishing industry standards.
Choosing a Genetic Test Provider
Choosing a genetic test provider can be daunting. This short article helps you to consider what is important to you, and your dogs, in finding the right test provider for you. -
The HGTD's genetic counselling resources index provides access to basic introductory articles on genetics, articles on application of genetics in breed health management, and advanced work in technical genetics research. Breed-specific information is also available in our Pedigreed Dogs Database.
