Search Term: Neuronal Ceroid Lipofuscinosis 10 (NCL10)
Breeds
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Disease Name
Neuronal Ceroid Lipofuscinosis 10 (NCL10)
OMIA
1505
Gene Name
CTSD
Mutation
c.597G>A
OMIM
610127
Disease Code
NCL10
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
Gene Name Text
cathepsin D
GTPs
La Tour de Salvagny, N/A
FR
FR
Antagene
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Non-Participant Out Sourced Testing Any Patents Held
Heidelberg, BW
DE
DE
Generatio GmbH Center for Animal Genetics
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Toronto, Ontario
CA
CA
Boston, MA
US
US
Embark
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/LAB Out Sourced Testing Any Patents Held Sponsor
Maribor
SI
SI
EVG Diagnostics
In House Testing ISO Accredited/ GTP Non-Participant Other Recognized Accreditation Out Sourced Testing
Plzen
CZ
CZ
Genomia s.r.o
HGTD Leadership Sponsor In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Participation Pending
Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participation Pending Any Patents Held Supporter
St. Kilda, Victoria
AU
AU
Columbia, Missouri
US
US
Orthopedic Foundation for Animals
HGTD Leadership Sponsor Test Discovery- GTP Non-Participant Out Sourced Testing
Spokane, Washington
US
US
Paw Print Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation Subsidiary Company
Wageningen
NL
NL
VHL Genetics
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Vancouver, Washington
US
US
Wisdom Panel - Kinship
HGTD Leadership Sponsor Test Discovery- GTP Other Recognized Accreditation Out Sourced Testing Participation Pending Sponsor
Zagreb
HR
HR