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Polyneuropathy - NDRG1 Type (AMPN)
Breed: St. Bernard/ longhaired
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 in this breed
General
Disease Name
Polyneuropathy - NDRG1 Type (AMPN)
OMIA
2120
Gene Name
NDRG1
Mutation
c.1080_1089delTCGCCTGGAC
Mutation 2
c.293G>T
Mutation 3
Gly98Val
Test Type
Genetic Disease/Disorder
Details
Polyneuropathy describes many abnormalities of the nervous system including sensory nerves, motor nerves, and autonomic nerves. Signs include progressive weakness, exercise intolerance, high-steppage, change in bark pitch and difficulty breathing. Age of onset 7 to 20 months of age. Symptoms can be progressive.
Published
Drogemuller, C., Becker, D., Kessler, B., Kemter, E., Tetens, J., Jurina, K., Jaderlund, KH., Flagstad, A., Perloski, M., Lindblad-Toh, K., Matiasek, K. : A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy. PLoS One 5:e11258, 2010. Pubmed reference: 20582309. DOI: 10.1371/journal.pone.0011258.
Published 2
Bruun, C.S., Juderlund, K.H., Berendt, M., Jensen, K.B., Spodsberg, E.H., Gredal, H., Shelton, G.D., Mickelson, J.R., Minor, K.M., Lohi, H., Bjerkas, I., Stigen, O., Espenes, A., Rohdin, C., Edlund, R., Ohlsson, J., Cizinauskas, S., Leifsson, P.S., Drogemuller, C., Moe, L., Cirera, S., Fredholm, M. : A Gly98Val Mutation in the N-Myc Downstream Regulated Gene 1 (NDRG1) in Alaskan Malamutes with Polyneuropathy. PLoS One 8:e54547, 2013. Pubmed reference: 23393557. DOI: 10.1371/journal.pone.0054547.
Body/System/Process
Neurologic
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
BioBank AS
Certagen GmbH
CMSCH
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Alaskan Malamute Polyneuropathy, AMPN
Gene Name
NDRG1
Mutation
c.1080_1089delTCGCCTGGAC
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
61
GTP Breed
St. Bernard/ Longhaired
