Neuronal Ceroid Lipofuscinosis 10 (NCL10)
Breed: American Bully
Generic Phene Data
Breeds
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
Neuronal Ceroid Lipofuscinosis 10 (NCL10)
OMIA
1505
Gene Name
CTSD
Mutation
c.597G>A
Test Type
Genetic Disease/Disorder
Details
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Details 2
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Published
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab 87:341-8, 2006. Pubmed reference: 16386934. DOI: 10.1016/j.ymgme.2005.11.005.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
NCL10
Gene Name
CTSD
Mutation
c.597G>A
Mutation Comment
g.46013354C>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
FCI Number
-20
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CTSD
Mutation
c.597G>A
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA