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Neuroaxonal Dystrophy (NAD)
Breed: Continental Toy Spaniel Phalène/ with hanging ears
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
Relevance Rating: There is some evidence or research available in this breed
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 in this breed
General
Disease Name
Neuroaxonal Dystrophy (NAD)
OMIA
2105
Gene Name
PLA2G6
Mutation
c.1579G>A
Test Type
Genetic Disease/Disorder
Details
Neuroaxonal Dystrophy (NAD) is a progressive degeneration of nerve cells causing "spheroids" to form on the nerve endings. Considered to be rare. The nerve cells are no longer able to transmit normally to each other causing the loss of coordination. Early signs include: respiratory failure, scoliosis, joint contractures, progressing to: odd gait, stumbling, poor coordination, tremors especially of the head, no bowel or urine control, increased risk of vitamin E deficenct and pneumonia. Age of onset from birth, sometimes with pre-natal issues: cerebellar hypoplasia. Some dogs do not show symptoms until adulthood.
Details 2
...neuroaxonal dystrophy (NAD), a neurodegenerative disease that sporadically occurs worldwide in Papillon dogs. The disease is considered an autosomal recessive monogenic disease, which is histopathologically characterized by severe axonal swelling, known as "spheroids," throughout the nervous system... rare monogenic hereditary diseases. (From Tsuboi et al, 2017)
Published
Tsuboi, M., Watanabe, M., Nibe, K., Yoshimi, N., Kato, A., Sakaguchi, M., Yamato, O., Tanaka, M., Kuwamura, M., Kushida, K., Ishikura, T., Harada, T., Chambers, J.K., Sugano, S., Uchida, K., Nakayama, H. : Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. PLoS One 12:e0169002, 2017. Pubmed reference: 28107443. DOI: 10.1371/journal.pone.0169002.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Papillon
HSP Test-Specific Data
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
Nature of test
mutation test
FCI Number
77
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
Nature of test
mutation test
FCI Number
77
GTP Breed
Continental Toy Spaniel Phalène/ with hanging ears
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
GTP- or Breed-Specific Publications
Tsuboi et al 2017
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
Mutation Comment
g.26544820G>A
Nature of test
mutation test
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
77
GTP Breed
Continental Toy Spaniel Phalène/ with hanging ears
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PLA2G6
Mutation
c.1579G>A
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