Globoid Cell Leukodystrophy
Breed: Irish Red and White Setter
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
Globoid Cell Leukodystrophy
OMIA
578
Gene Name
GALC
Mutation
c.473A>C
Mutation 2
c.ins790_791 78bp
Test Type
Genetic Disease/Disorder
Details
Globoid cell leucodystrophy is a lysosomal storage disease. This is a progressive disease with signs including: problems walking, poor weight gain, tremors, behavioral changes, blindness, dementia, paralysis, incontinence. Age of onset 3 - 18 months of age, with increasing severity ususally leading to euthanasia by 2 - 6 months after onset of clinical signs. Definitive diagnosis via DNA testing.
Details 2
Globoid cell leucodystrophy is a lysosomal storage disease that results in neurological disease of dogs characterized by peripheral nerve, spinal cord and cerebellar dysfunction, caused by a mutation in the gene encoding galactocerebrosidase responsible for lysosomal hydrolysis of galactolipids found in myelin. Age of onset 3 - 18 months of age. Symptoms include: poor weight gain, progressive peripheral neuropathy including ataxia, leg crossing, tremors, and exercise induced paresis. This progresses to: behavioral changes, blindness, dementia, anorexia, cachexia, urinary incontinence and quadriparesis, with death occurring 2 - 6 months after onset of clinical signs. Definitive diagnosis via DNA testing.
Published
Victoria, T., Rafi, M.A., Wenger, D.A. : Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn Terriers Genomics 33:457-462, 1996. Pubmed reference: 8661004. DOI: 10.1006/geno.1996.0220.
Published 2
Wenger, D.A., Victoria, T., Rafi, M.A., Luzi, P., Vanier, M.T., Vite, C., Patterson, D.F., Haskins, M.H.: Globoid cell leukodystrophy in cairn and West Highland white terriers. Journal of Heredity 90:138-142, 1999. Pubmed reference: 9987921
Published 3
McGraw, RA., Carmichael, KP.: Molecular basis of globoid cell leukodystrophy in Irish setters. Vet J 171:370-2, 2006. Pubmed reference: 16490723. DOI: 10.1016/j.tvjl.2004.10.019
Published 4
Bongarzone, E.R., Escolar, M.L., Gray, S.J., Kafri, T., Vite, C.H., Sands, M.S. : Insights into the Pathogenesis and Treatment of Krabbe Disease. Pediatr Endocrinol Rev 13 Suppl 1:689-96, 2016. Pubmed reference: 27491217.
Body/System/Process
Neuromuscular
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
GALC
Mutation
Complex Rearrangement; c.473A>C; c.ins790_791 78bp
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
GALC
Mutation
Complex Rearrangement; c.473A>C; c.ins790_791 78bp
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
GALC
Mutation
Complex Rearrangement; c.473A>C; c.ins790_791 78bp
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
GALC
Mutation
Complex Rearrangement; c.473A>C; c.ins790_791 78bp
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
GALC
Mutation
c.ins790_791 78bp
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Krabbe Disease, Galactosylceramide Lipidosis
Gene Name
GALC
Mutation
c.473A>C; c.ins790_791 78bp
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
GALC
Mutation
Complex Rearrangement; c.473A>C; c.ins790_791 78bp
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Krabbe Disease, Galactosylceramide Lipidosis
Gene Name
GALC
Mutation
c.473A>C; c.ins790_791 78bp
Nature of test
mutation test
FCI Number
330
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
GALC
Mutation
Complex Rearrangement; c.473A>C; c.ins790_791 78bp
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Krabbe Disease, Galactosylceramide Lipidosis
Gene Name
GALC
Mutation
Complex Rearrangement
Nature of test
mutation test
FCI Number
330
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
GALC
Mutation
Complex Rearrangement; c.473A>C; c.ins790_791 78bp
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
GALC
Mutation
Complex Rearrangement; c.473A>C; c.ins790_791 78bp
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
GALC
Mutation
Complex Rearrangement; c.473A>C; c.ins790_791 78bp
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
GALC
Mutation
Complex Rearrangement; c.473A>C; c.ins790_791 78bp
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Key Comment