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Progressive Retinal Atrophy crd3 (PRA crd3)
Breed: Irish Glen of Imaal Terrier
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Progressive Retinal Atrophy crd3 (PRA crd3)
OMIA
1520
Gene Name
ADAM9
Mutation
c.1592_1881del
Test Type
Genetic Disease/Disorder
Details
PRA crd3 is one of several cone rod dystrophies (crd) that have been recognised and is caused by a recessive mutation. All forms of crd are characterised by the initial loss of cones, the cells in the retina that are responsible for vision in bright light/day light, followed by the degeneration of rods, the retinal cells that operate during night vision. Clinical effects of crd3 are usually not evident until two years of age, but in some instances may be delayed until aged seven or older.
Details 2
A variable and, at times, very late onset of gPRA caused by a crd form, is unique as a relatively mild retinal degeneration at advanced age (2-7 years, sometimes later).
Published
Kropatsch, R., Petrasch-Parwez, E., Seelow, D., Schlichting, A., Gerding, WM., Akkad, DA., Epplen, JT., Dekomien, G. : Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene. Mol Cell Probes 24:357-63, 2010. Pubmed reference: 20691256. DOI: 10.1016/j.mcp.2010.07.007.
Published 2
Goldstein, O., Mezey, JG., Boyko, AR., Gao, C., Wang, W., Bustamante, CD., Anguish, LJ., Jordan, JA., Pearce-Kelling, SE., Aguirre, GD., Acland, GM. : An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. Mol Vis 16:1549-69, 2010. Pubmed reference: 20806078.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Glen of Imaal Terrier
HSP Test-Specific Data
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Cone Rod Dystrophy, PRA
GTP Disease Synonym
Progressive Retinal Atrophy, crd-3
Gene Name
ADAM9
Mutation
c.1592_1881del
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
302
GTP Breed
Irish Glen of Imaal Terrier
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Cone Rod Dystrophy, PRA
GTP Disease Synonym
Cone-rod dystrophy 3
Gene Name
ADAM9
Mutation
c.1592_1881del
Nature of test
mutation test
Inheritance
AR
FCI Number
302
GTP Breed
Irish Glen of Imaal Terrier
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
CRD3
Gene Name
ADAM9
Mutation Comment
deletion, gross (>20)
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Cone Rod Dystrophy, PRA
GTP Disease Synonym
Progressive Retinal Atrophy, crd-3
Gene Name
ADAM9
Mutation
c.1592_1881del
Nature of test
mutation test
FCI Number
302
GTP Breed
Irish Glen of Imaal Terrier
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Cone Rod Dystrophy, PRA
Gene Name
ADAM9
Mutation
c.1592_1881del
Nature of test
mutation test
FCI Number
302
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
ADAM9
Mutation
c.1592_1881del
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