NCL
MCID: NRN021
MIFTS: 59

Neuronal Ceroid Lipofuscinosis (NCL) malady

Categories: Rare diseases, Metabolic diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Neuronal Ceroid Lipofuscinosis

Aliases & Descriptions for Neuronal Ceroid Lipofuscinosis:

Name: Neuronal Ceroid Lipofuscinosis 12 50 51 29 14
Neuronal Ceroid-Lipofuscinoses 42 69
Juvenile Neuronal Ceroid Lipofuscinosis 69
Hereditary Ceroid Lipofuscinosis 12
Batten Disease 50
Ncl 50

Classifications:



External Ids:

Disease Ontology 12 DOID:14503
ICD10 33 E75.4
MeSH 42 D009472
NCIt 47 C61257
SNOMED-CT 64 42012007
UMLS 69 C0027877

Summaries for Neuronal Ceroid Lipofuscinosis

NINDS : 51 Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.

MalaCards based summary : Neuronal Ceroid Lipofuscinosis, also known as neuronal ceroid-lipofuscinoses, is related to adult neuronal ceroid lipofuscinosis and neuronal ceroid lipofuscinosis 4a, and has symptoms including ataxia, seizures and intellectual disability. An important gene associated with Neuronal Ceroid Lipofuscinosis is TPP1 (Tripeptidyl Peptidase 1), and among its related pathways/superpathways are Lysosome and MHC class II antigen presentation. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related phenotypes are behavior/neurological and cellular

NIH Rare Diseases : 50 neuronal ceroid lipofuscinosis (ncl) refers to a group of conditions that affect the nervous system. signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. although the ncls were historically classified according to their age of onset and clinical features, the most recent classification system is primarily based on their underlying genetic cause. most forms are inherited in an autosomal recessive manner; however, autosomal dominant inheritance has been reported in one adult-onset form (neuronal ceroid lipofuscinosis 4b). treatment options are limited to therapies that can help relieve some of the symptoms. last updated: 9/7/2015

Wikipedia : 71 Neuronal ceroid lipofuscinosis (NCL) is the general name for a family of at least eight genetically... more...

Related Diseases for Neuronal Ceroid Lipofuscinosis

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 2 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 6 Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 11 Ceroid Lipofuscinosis, Neuronal, 9
Neuronal Ceroid Lipofuscinosis 4a Adult Neuronal Ceroid Lipofuscinosis

Diseases related to Neuronal Ceroid Lipofuscinosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
id Related Disease Score Top Affiliating Genes
1 adult neuronal ceroid lipofuscinosis 12.7
2 neuronal ceroid lipofuscinosis 4a 12.5
3 ceroid lipofuscinosis, neuronal, 10 12.4
4 ceroid lipofuscinosis, neuronal, 1 12.4
5 ceroid lipofuscinosis, neuronal, 5 12.3
6 ceroid lipofuscinosis, neuronal, 3 12.3
7 ceroid lipofuscinosis, neuronal, 2 12.3
8 ceroid lipofuscinosis, neuronal, 6 12.3
9 ceroid lipofuscinosis, neuronal, 4, parry type 12.3
10 ceroid lipofuscinosis, neuronal, 7 12.3
11 ceroid lipofuscinosis, neuronal, 13, kufs type 12.2
12 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 12.2
13 ceroid lipofuscinosis, neuronal, 8 12.2
14 ceroid lipofuscinosis, neuronal, 11 12.2
15 ceroid lipofuscinosis, neuronal, 9 12.1
16 ceroid lipofuscinosis, neuronal, kufs type, adult onset 12.0
17 epilepsy, progressive myoclonic 3, with or without intracellular inclusions 11.8
18 cln4 disease 11.4
19 neuronal ceroid-lipofuscinoses 11.4
20 neuronitis 11.4
21 cln12 disease 11.1
22 cln14 disease 11.1
23 kufor-rakeb syndrome 11.1
24 retinitis 10.5
25 retinal degeneration 10.3
26 deafness and myopia 10.3 CLN5 CLN6
27 epilepsy 10.3
28 microcephaly 9, primary, autosomal recessive 10.3 CLN5 CLN6
29 dementia - subcortical 10.2 CLN5 CLN6 PPT1
30 glans penis cancer 10.2 CLN6 CLN8 MFSD8
31 fibroblastic liposarcoma 10.2 CLN6 CLN8 MFSD8
32 cataract 44 10.2 CLN6 KCTD7
33 posterior uveal melanoma 10.2 CLN3 PPT1 TPP1
34 mitochondrial myopathy with diabetes 10.2 CLN5 CLN6 CLN8 MFSD8
35 myopia 10 10.2 CLN5 CLN6 CLN8 MFSD8
36 urinary schistosomiasis 10.2 CLN5 CLN6 CLN8 MFSD8
37 spina bifida occulta 10.2 CTSD PSAP
38 cardiomyopathy 10.1
39 rett syndrome 10.1
40 neuroaxonal dystrophy 10.1
41 ataxia 10.1
42 cerebritis 10.1
43 lysosomal storage disease 10.1
44 retinitis pigmentosa 10.1
45 left ventricular noncompaction 10.1
46 mannosidosis 10.1 CLN3 PPT1 TPP1
47 glomerulosclerosis, focal segmental, 2 10.1 CLN6 CLN8 CTSF DNAJC5 KCTD7
48 mononeuritis of lower limb 10.1 CLN3 CLN5 CLN6 PPT1 PSAP TPP1
49 deafness, autosomal recessive 26 10.0 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
50 wilms tumor 2 10.0 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

Graphical network of the top 20 diseases related to Neuronal Ceroid Lipofuscinosis:



Diseases related to Neuronal Ceroid Lipofuscinosis

Symptoms & Phenotypes for Neuronal Ceroid Lipofuscinosis

Human phenotypes related to Neuronal Ceroid Lipofuscinosis:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 intellectual disability 32 HP:0001249
4 muscular hypotonia 32 HP:0001252
5 neurological speech impairment 32 HP:0002167
6 eeg abnormality 32 HP:0002353
7 developmental regression 32 HP:0002376
8 behavioral abnormality 32 HP:0000708
9 visual impairment 32 HP:0000505
10 optic atrophy 32 HP:0000648
11 abnormality of metabolism/homeostasis 32 HP:0001939
12 abnormality of movement 32 HP:0100022
13 abnormal electroretinogram 32 HP:0000512
14 abnormality of the retinal vasculature 32 HP:0008046
15 visual loss 32 HP:0000572
16 mental deterioration 32 HP:0001268
17 ocular albinism 32 HP:0001107

UMLS symptoms related to Neuronal Ceroid Lipofuscinosis:


myoclonus, seizures, abnormality of extrapyramidal motor function

MGI Mouse Phenotypes related to Neuronal Ceroid Lipofuscinosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ATP13A2 BAMBI CLN3 CLN6 CLN8 CTSD
2 cellular MP:0005384 10.07 ATP13A2 CLN3 CTSD GRN MFSD8 PDCD6IP
3 mortality/aging MP:0010768 10.03 CTSD CTSF DNAJC5 GRN PPT1 PPT2
4 nervous system MP:0003631 10.03 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
5 hematopoietic system MP:0005397 10.02 PSAP RAB7A ATP13A2 CLN3 CLN6 CTSD
6 pigmentation MP:0001186 9.43 ATP13A2 CLN8 GRN MFSD8 PPT1 PPT2
7 vision/eye MP:0005391 9.36 PSAP CLN3 CLN5 CLN6 CLN8 CTSD

Drugs & Therapeutics for Neuronal Ceroid Lipofuscinosis

Drugs for Neuronal Ceroid Lipofuscinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
3 Antidotes Phase 4
4 Anti-Infective Agents Phase 4
5 Antioxidants Phase 4
6 Antiviral Agents Phase 4
7 Expectorants Phase 4
8 N-monoacetylcystine Phase 4
9 Protective Agents Phase 4
10 Respiratory System Agents Phase 4
11
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
13
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
14
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
15 Alkylating Agents Phase 2, Phase 3
16 Antilymphocyte Serum Phase 2, Phase 3
17 Antineoplastic Agents, Alkylating Phase 2, Phase 3
18 Antirheumatic Agents Phase 2, Phase 3
19 Immunosuppressive Agents Phase 2, Phase 3
20 Methylprednisolone acetate Phase 2, Phase 3
21 Methylprednisolone Hemisuccinate Phase 2, Phase 3
22 Prednisolone acetate Phase 2, Phase 3
23 Prednisolone hemisuccinate Phase 2, Phase 3
24 Prednisolone phosphate Phase 2, Phase 3
25
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 2 24280-93-1 446541
27
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
28 Anti-Bacterial Agents Phase 2
29 Antibiotics, Antitubercular Phase 2
30
Menthol Approved Phase 1 2216-51-5 16666

Interventional clinical trials:

(show all 22)
id Name Status NCT ID Phase
1 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4
2 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
3 Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis Completed NCT01399047 Phase 2
4 A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease Completed NCT01907087 Phase 1, Phase 2
5 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Recruiting NCT01414985 Phase 1, Phase 2
6 Batten CLN6 Gene Therapy Recruiting NCT02725580 Phase 1, Phase 2
7 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Active, not recruiting NCT02485899 Phase 1, Phase 2
8 A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Enrolling by invitation NCT02678689 Phase 2
9 Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) Completed NCT00337636 Phase 1
10 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Recruiting NCT01161576 Phase 1
11 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
12 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
13 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
14 Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
15 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
16 Genotype - Phenotype Correlations of LINCL Completed NCT00151268
17 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
18 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Recruiting NCT01035424
19 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
20 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
21 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 Collection of Cerebrospinal Fluid in Healthy Children Terminated NCT01698229

Search NIH Clinical Center for Neuronal Ceroid Lipofuscinosis

Cochrane evidence based reviews: neuronal ceroid-lipofuscinoses

Genetic Tests for Neuronal Ceroid Lipofuscinosis

Genetic tests related to Neuronal Ceroid Lipofuscinosis:

id Genetic test Affiliating Genes
1 Neuronal Ceroid Lipofuscinosis 29

Anatomical Context for Neuronal Ceroid Lipofuscinosis

MalaCards organs/tissues related to Neuronal Ceroid Lipofuscinosis:

39
Brain, Eye, Testes, Skin, Liver, Kidney, Spleen

Publications for Neuronal Ceroid Lipofuscinosis

Articles related to Neuronal Ceroid Lipofuscinosis:

(show top 50) (show all 611)
id Title Authors Year
1
Fingolimod and Teriflunomide Attenuate Neurodegeneration in Mouse Models of Neuronal Ceroid Lipofuscinosis. ( 28506594 )
2017
2
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis. ( 28404863 )
2017
3
in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels. ( 28365214 )
2017
4
Extra-neuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression. ( 28079862 )
2017
5
Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease. ( 28334871 )
2017
6
Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis. ( 28199020 )
2017
7
Chronic Enzyme Replacement to the Brain of a Late Infantile Neuronal Ceroid Lipofuscinosis Mouse Has Differential Effects on Phenotypes of Disease. ( 28345005 )
2017
8
Mouse models of kufor-rakeb disease link Parkinson's disease closer to neuronal ceroid lipofuscinosis, suggesting lysosomal dysfunction as shared mechanism. ( 28071821 )
2017
9
A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. ( 28127059 )
2017
10
Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis. ( 28428354 )
2017
11
Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis. ( 28008682 )
2017
12
Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2: Can EEG Be a Biomarker? ( 27445018 )
2016
13
Intravitreal implantation of TPP1-transduced stem cells delays retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis. ( 27637672 )
2016
14
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the AlpenlAondische Dachsbracke dog. ( 28024876 )
2016
15
Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life. ( 27486012 )
2016
16
Aberrant adhesion impacts early development in a Dictyostelium model for juvenile neuronal ceroid lipofuscinosis. ( 27669405 )
2016
17
Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin. ( 27508227 )
2016
18
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD. ( 27072142 )
2016
19
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. ( 27553878 )
2016
20
MFSD8 single-base pair deletion in a Chihuahua with neuronal ceroid lipofuscinosis. ( 27145727 )
2016
21
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1. ( 27639779 )
2016
22
Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier. ( 27778018 )
2016
23
Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). ( 27629717 )
2016
24
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis. ( 27881166 )
2016
25
GPi deep brain stimulation for palliation of hemidystonia and hemibody jerking in a patient with suspected adult onset neuronal ceroid lipofuscinosis. ( 26944153 )
2016
26
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). ( 27412140 )
2016
27
Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. ( 27211611 )
2016
28
Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: AnA Atypical Presentation. ( 27343025 )
2016
29
First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. ( 27165443 )
2016
30
Manifestation of neuronal ceroid lipofuscinosis in Australian Merino sheep: observations on altered behaviour and growth. ( 26949278 )
2016
31
Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities. ( 27105763 )
2016
32
Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation. ( 27021778 )
2016
33
Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1. ( 27616753 )
2016
34
Neuronal ceroid lipofuscinosis with DNAJC5/CSPI+ mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. ( 26659577 )
2016
35
Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis. ( 27453211 )
2016
36
A canine model for neuronal ceroid lipofuscinosis highlights the promise of gene therapy for lysosomal storage diseases. ( 27867988 )
2016
37
Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies. ( 27203721 )
2016
38
Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease). ( 26748992 )
2016
39
Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis. ( 27101989 )
2016
40
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? ( 26762174 )
2016
41
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis). ( 27491216 )
2016
42
Next-Generation Sequencing in the Diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis. ( 27215405 )
2016
43
Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis. ( 27083890 )
2016
44
A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1. ( 26846731 )
2016
45
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD. ( 27668283 )
2016
46
MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis. ( 27765741 )
2016
47
Brain Region-Specific Degeneration with Disease Progression in Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease). ( 26822727 )
2016
48
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)? ( 26700800 )
2016
49
Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression. ( 27231226 )
2016
50
Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis. ( 27553520 )
2016

Variations for Neuronal Ceroid Lipofuscinosis

ClinVar genetic disease variations for Neuronal Ceroid Lipofuscinosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TPP1 NM_000391.3(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 GRCh37 Chromosome 11, 6638271: 6638271
2 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh37 Chromosome 11, 6638385: 6638385
3 CLN6 NM_017882.2(CLN6): c.395_396delCT (p.Ser132Cysfs) deletion Pathogenic rs774543080 GRCh38 Chromosome 15, 68211765: 68211766
4 CLN3 NM_001042432.1(CLN3): c.944dupA (p.His315Glnfs) duplication Pathogenic/Likely pathogenic rs386833740 GRCh37 Chromosome 16, 28493666: 28493666
5 CLN5 NM_006493.2(CLN5): c.924_925delAT (p.Phe309Serfs) deletion Pathogenic/Likely pathogenic rs786204644 GRCh38 Chromosome 13, 77000669: 77000670

Expression for Neuronal Ceroid Lipofuscinosis

Search GEO for disease gene expression data for Neuronal Ceroid Lipofuscinosis.

Pathways for Neuronal Ceroid Lipofuscinosis

Pathways related to Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.37 CLN3 CLN5 CTSD CTSF MFSD8 PPT1
2 11.14 CTSD CTSF RAB7A

GO Terms for Neuronal Ceroid Lipofuscinosis

Cellular components related to Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.71 ATP13A2 CLN3 NMB PPT1
2 lysosomal membrane GO:0005765 9.7 ATP13A2 CLN3 CLN5 DNAJC5 MFSD8 PSAP
3 late endosome GO:0005770 9.61 ATP13A2 CLN3 RAB7A
4 melanosome GO:0042470 9.56 CTSD DNAJC5 PDCD6IP TPP1
5 synaptic vesicle GO:0008021 9.54 CLN3 DNAJC5 PPT1
6 lysosomal lumen GO:0043202 9.5 ATP13A2 CTSD CTSF PPT1 PPT2 PSAP
7 lysosome GO:0005764 9.4 ATP13A2 CLN3 CLN5 CTSD CTSF GRN
8 extracellular exosome GO:0070062 10.06 CLN5 CTSD CTSF DNAJC5 GRN PDCD6IP

Biological processes related to Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.83 CTSD DNAJC5 GRN PSAP RAB7A
2 negative regulation of neuron apoptotic process GO:0043524 9.72 CLN3 DNAJC5 PPT1
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.65 CTSD CTSF RAB7A
4 neuromuscular process controlling balance GO:0050885 9.58 CLN3 CLN8 TPP1
5 negative regulation of proteolysis GO:0045861 9.54 CLN3 CLN8
6 associative learning GO:0008306 9.54 CLN3 CLN8 PPT1
7 bone resorption GO:0045453 9.52 RAB7A TPP1
8 cellular protein catabolic process GO:0044257 9.51 CLN8 PPT1
9 positive regulation of exosomal secretion GO:1903543 9.5 ATP13A2 PDCD6IP RAB7A
10 ceramide metabolic process GO:0006672 9.49 CLN3 CLN8
11 fatty-acyl-CoA biosynthetic process GO:0046949 9.46 PPT1 PPT2
12 lysosomal lumen acidification GO:0007042 9.46 CLN3 CLN5 CLN6 PPT1
13 cellular macromolecule catabolic process GO:0044265 9.43 CLN6 CLN8 PPT1
14 lysosome organization GO:0007040 9.43 CLN3 CLN6 CLN8 MFSD8 PPT1 TPP1
15 protein catabolic process GO:0030163 9.17 CLN3 CLN5 CLN6 CLN8 CTSD PPT1

Molecular functions related to Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 palmitoyl-(protein) hydrolase activity GO:0008474 8.96 PPT1 PPT2
2 palmitoyl hydrolase activity GO:0098599 8.62 PPT1 PPT2

Sources for Neuronal Ceroid Lipofuscinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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