Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Deficiency in this enzyme leads to infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease, CLN1).
|
30204428 |
2018 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
Biomarker
|
disease |
CTD_human |
Decreased sensitivity of palmitoyl protein thioesterase 1-deficient neurons to chemical anoxia.
|
27722792 |
2017 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL) is an autosomal recessive disorder starting in infancy as early as 12-month-old, caused by PPT1 (palmitoyl-protein thioesterase 1) mutations, and characterized by progressive psychomotor deterioration, brain atrophy, myoclonic jerk and visual impairment.
|
26846731 |
2016 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Patients with mutations in CLN1 primarily manifest with infantile NCL (INCL or Haltia-Santavuori disease), which is second only to congenital NCL for its age of onset and devastating progression.
|
25205113 |
2015 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
Biomarker
|
disease |
MGD |
Patients with mutations in CLN1 primarily manifest with infantile NCL (INCL or Haltia-Santavuori disease), which is second only to congenital NCL for its age of onset and devastating progression.
|
25205113 |
2015 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Patients with mutations in CLN1, which encodes palmitoyl-protein thioesterase 1 (PPT1), primarily manifest with infantile neuronal ceroid lipofuscinosis (Haltia-Santavuori disease).
|
23857568 |
2013 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL; NCL1, Haltia-Santavuori disease) is caused by mutations in the CLN1/PPT gene which are associated with an early onset INCL phenotype.
|
22387303 |
2012 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
Biomarker
|
disease |
MGD |
The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis.
|
22031903 |
2011 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
Biomarker
|
disease |
CTD_human |
Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol.
|
21224254 |
2011 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
Biomarker
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL) is a fatal neurodegenerative disease caused by a deficiency in the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1).
|
19733542 |
2009 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
Biomarker
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL) is caused by palmitoyl protein thioesterase-1 (PPT1) deficiency.
|
18704195 |
2008 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
Biomarker
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative disease caused by deficiency of palmitoyl protein thioesterase 1 (PPT1).
|
18245779 |
2008 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
Biomarker
|
disease |
BEFREE |
Palmitoyl-protein thioesterase-1 (PPT1) deficiency causes infantile neuronal ceroid lipofuscinosis (INCL), a devastating childhood neurodegenerative storage disorder.
|
18948101 |
2008 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
Biomarker
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL) has the earliest onset ( approximately 1.5 years of age) and is caused by a deficiency in the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1).
|
16364693 |
2006 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative disorder of the childhood caused by mutations in the gene encoding palmitoyl protein thioesterase 1 (PPT1).
|
16542649 |
2006 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL), a neurodegenerative storage disorder of childhood, is caused by mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene.
|
16644870 |
2006 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
Biomarker
|
disease |
MGD |
Infantile Neuronal Ceroid Lipofuscinosis (INCL) results from mutations in the palmitoyl protein thioesterase (PPT1, CLN1) gene and is characterized by dramatic death of cortical neurons.
|
15649713 |
2005 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
Biomarker
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL) is a childhood neurodegenerative disease caused by the selective death of cortical and retinal neurons as the result of an inherited palmitoyl-protein thioesterase 1 (PPT1) deficiency.
|
11589008 |
2001 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative storage disorder in children caused by mutations in the palmitoyl protein thioesterase gene (PPT1).
|
11520175 |
2001 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
|
10679943 |
2000 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
Biomarker
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL) is a childhood neurodegenerative disease caused by the selective death of cortical neurons and retinal degeneration, as the result of a palmitoyl protein thioesterase 1 (PPT1) deficiency.
|
11020216 |
2000 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis.
|
10416973 |
1999 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the palmitoyl-protein thioesterase (PPT) gene cause infantile neuronal ceroid lipofuscinosis (INCL), the clinical manifestations of which include the early loss of vision followed by deterioration of brain functions.
|
10231585 |
1999 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding a lysosomal enzyme, palmitoyl protein thioesterase (PPT), cause infantile NCL (locus CLN1 on chromosome 1p32) or Haltia-Santavuori disease.
|
10446748 |
1999 |
Ceroid lipofuscinosis, neuronal 1, infantile
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL, CLN1) is a neurodegenerative disorder in which the biochemical defect is unknown.
|
7789974 |
1995 |