CLN1
MCID: CRD177
MIFTS: 60

Ceroid Lipofuscinosis, Neuronal, 1 (CLN1)

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 1

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 1:

Name: Ceroid Lipofuscinosis, Neuronal, 1 58 76 13 74
Infantile Neuronal Ceroid Lipofuscinosis 26 60 76 30 56 74
Cln1 58 12 54 26 76
Neuronal Ceroid Lipofuscinosis 1 12 54 26 15
Santavuori-Haltia Disease 26 60 76 38
Ceroid Lipofuscinosis Neuronal 1 54 30 6
Hagberg-Santavuori Disease 60 76
Santavuori Disease 60 76
Cln1 Disease 26 60
Incl 60 76
Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits 76
Ceroid Lipofuscinosis, Neuronal, 1, Variable Age at Onset 58
Neuronal Ceroid Lipofuscinosis with Variable Age at Onset 76
Neuronal Ceroid Lipofuscinosis 1 Variable Age of Onset 12
Ceroid Lipofuscinosis, Neuronal 1, Infantile 74
Neuronal Ceroid Lipofuscinosis, Infantile 26
Lipofuscinosis, Ceroid, Neuronal, Type 1 41
Cln1 Variable Age at Onset 54
Infantile Batten Disease 26
Infantile Ncl 60

Characteristics:

Orphanet epidemiological data:

60
cln1 disease
Inheritance: Autosomal recessive; Age of onset: All ages;
infantile neuronal ceroid lipofuscinosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Sweden),1-9/1000000 (Sweden),1-9/1000000 (Finland),1-9/100000 (Finland),<1/1000000 (Norway); Age of onset: Infancy,Neonatal; Age of death: late childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset
variable severity, correlates with age at onset
infantile, late-infantile, juvenile, and adult onset have been reported
patients with adult onset present with psychiatric features
common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70)


HPO:

33
ceroid lipofuscinosis, neuronal, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course onset


Classifications:



Summaries for Ceroid Lipofuscinosis, Neuronal, 1

OMIM : 58 The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children. Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. (256730)

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 1, also known as infantile neuronal ceroid lipofuscinosis, is related to ceroid lipofuscinosis, neuronal, 9 and ceroid lipofuscinosis, neuronal, 13, and has symptoms including seizures, ataxia and myoclonus. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 1 is PPT1 (Palmitoyl-Protein Thioesterase 1), and among its related pathways/superpathways are Fatty acid metabolism and Fatty acid elongation. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and lung, and related phenotypes are seizures and ataxia

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has material basis in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.

Genetics Home Reference : 26 CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, brain cells die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk. Some affected children develop repetitive hand movements. By age 2, individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected children develop frequent respiratory infections. As the condition worsens, children have severe feeding difficulties that often require a feeding tube. Children with CLN1 disease usually do not survive past childhood.

UniProtKB/Swiss-Prot : 76 Ceroid lipofuscinosis, neuronal, 1: A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD).

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 1

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 6
Ceroid Lipofuscinosis, Neuronal, 9 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 7 Ceroid Lipofuscinosis, Neuronal, 11
Ceroid Lipofuscinosis, Neuronal, 13 Adult Neuronal Ceroid Lipofuscinosis

Diseases related to Ceroid Lipofuscinosis, Neuronal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 9 31.1 CLN5 CLN6 CLN8 DNAJC5
2 ceroid lipofuscinosis, neuronal, 13 31.1 CLN5 CLN8 DNAJC5 KCTD7
3 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 31.0 CLN5 CLN6 CLN8 MFSD8
4 ceroid lipofuscinosis, neuronal, 3 30.9 CLN3 CLN5 CLN6 CTSD PPT1 TPP1
5 ceroid lipofuscinosis, neuronal, 7 30.5 CLN3 CLN5 CLN6 CLN8 DNAJC5 MFSD8
6 lysosomal storage disease 30.3 CLN3 PPT1 TPP1
7 ceroid lipofuscinosis, neuronal, 10 30.2 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
8 adult neuronal ceroid lipofuscinosis 29.7 CLN6 DNAJC5 PPT1 TPP1
9 ceroid lipofuscinosis, neuronal, 11 29.2 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
10 neuronal ceroid lipofuscinosis 28.5 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
11 ceroid lipofuscinosis, neuronal, 2 28.4 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
12 neuronal ceroid-lipofuscinoses 28.2 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
13 ceroid lipofuscinosis, neuronal, 5 11.4
14 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.3
15 chromosome 15, trisomy mosaicism 11.2
16 epiphyseal dysplasia hearing loss dysmorphism 11.2
17 hemifacial microsomia with radial defects 11.0
18 spondylometaepiphyseal dysplasia, short limb-hand type 11.0
19 epiphyseal dysplasia, multiple, 2 11.0
20 loeys-dietz syndrome 3 11.0
21 8p23.1 duplication syndrome 11.0
22 cortical blindness-intellectual disability-polydactyly syndrome 11.0
23 ring chromosome 12 11.0
24 ring chromosome 6 11.0
25 ring chromosome 7 11.0
26 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.0
27 ceroid lipofuscinosis, neuronal, 8 11.0
28 ceroid lipofuscinosis, neuronal, 6 11.0
29 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.0
30 rett syndrome 10.5
31 spinocerebellar ataxia, autosomal recessive 7 10.4
32 cerebrotendinous xanthomatosis 10.3
33 spinocerebellar ataxia 7 10.3
34 aspartylglucosaminuria 10.3
35 krabbe disease 10.3
36 mucolipidosis ii alpha/beta 10.3
37 neurodegeneration with brain iron accumulation 2a 10.3
38 ataxia and polyneuropathy, adult-onset 10.3
39 aging 10.3
40 macular dystrophy with central cone involvement 10.3
41 hematopoietic stem cell transplantation 10.3
42 choreatic disease 10.3
43 autosomal dominant cerebellar ataxia 10.3
44 epilepsy 10.3
45 neuroaxonal dystrophy 10.3
46 heparin-induced thrombocytopenia 10.3
47 precocious puberty 10.3
48 cln4 disease 10.0
49 keratoconus posticus circumscriptus 10.0
50 nevus comedonicus 10.0

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 1:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 1

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 1

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 1:

60 33 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
4 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
5 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
6 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
7 blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000618
8 abnormality of visual evoked potentials 60 33 hallmark (90%) Very frequent (99-80%) HP:0000649
9 stereotypy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000733
10 irritability 60 33 hallmark (90%) Very frequent (99-80%) HP:0000737
11 myoclonus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001336
12 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
13 motor deterioration 60 33 hallmark (90%) Very frequent (99-80%) HP:0002333
14 visual loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0000572
15 generalized hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001290
16 cerebral atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002059
17 macular dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007754
18 depressivity 33 HP:0000716
19 intellectual disability 33 HP:0001249
20 muscular hypotonia 33 HP:0001252
21 sleep disturbance 33 HP:0002360
22 hallucinations 33 HP:0000738
23 global developmental delay 33 HP:0001263
24 flexion contracture 33 HP:0001371
25 abnormality of metabolism/homeostasis 33 HP:0001939
26 progressive visual loss 33 HP:0000529
27 mental deterioration 60 Very frequent (99-80%)
28 macular degeneration 33 HP:0000608
29 postnatal microcephaly 33 HP:0005484
30 psychomotor deterioration 33 HP:0002361
31 loss of speech 33 HP:0002371
32 progressive microcephaly 33 HP:0000253
33 increased neuronal autofluorescent lipopigment 33 HP:0002074
34 decreased light- and dark-adapted electroretinogram amplitude 33 HP:0000654
35 undetectable electroretinogram 33 HP:0000550

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
spasticity
myoclonus
loss of speech
more
Head And Neck Eyes:
optic atrophy
macular degeneration
retinal degeneration
vision loss, progressive
blindness by age 2
more
Head And Neck Head:
microcephaly, postnatal, progressive

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
irritability
sleep disturbances
depression
hyperexcitability

Skeletal Limbs:
flexion contractures

Laboratory Abnormalities:
granular osmiophilic cytoplasmic deposits (grod) ultrastructurally in cells
decreased activity of ppt1
fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid

Clinical features from OMIM:

256730

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 1:


seizures, ataxia, myoclonus, sleep disturbances, muscle spasticity

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 CLN3 CLN6 CLN8 CTSD DNAJC5 MFSD8
2 mortality/aging MP:0010768 9.91 C1QBP CLN3 CLN6 CLN8 CTSD DNAJC5
3 hematopoietic system MP:0005397 9.87 C1QBP CLN3 CLN6 CTSD FLI1 MFSD8
4 nervous system MP:0003631 9.65 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
5 muscle MP:0005369 9.55 DNAJC5 FLI1 MFSD8 PPT1 TPP1
6 vision/eye MP:0005391 9.23 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 1

Drugs for Ceroid Lipofuscinosis, Neuronal, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# 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 Expectorants Phase 4
4 Free Radical Scavengers Phase 4
5 Antidotes Phase 4
6 Protective Agents Phase 4
7 Anti-Infective Agents Phase 4,Phase 1
8 Respiratory System Agents Phase 4
9 Antioxidants Phase 4
10 N-monoacetylcystine Phase 4
11 Antiviral Agents Phase 4
12 Mitogens Phase 1, Phase 2
13
Clindamycin Approved, Vet_approved Phase 1 18323-44-9 29029
14
Benzoyl peroxide Approved Phase 1 94-36-0 7187
15
Carboplatin Approved Phase 1 41575-94-4 10339178 38904 498142
16
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
17
Tyrosine Approved, Investigational, Nutraceutical Phase 1 60-18-4 6057
18 Clindamycin palmitate Phase 1
19 Dermatologic Agents Phase 1
20 Clindamycin phosphate Phase 1
21 Anti-Bacterial Agents Phase 1
22 Antimitotic Agents Phase 1
23 Albumin-Bound Paclitaxel Phase 1
24 Antineoplastic Agents, Phytogenic Phase 1
25 Protein Kinase Inhibitors Phase 1
26
Erlotinib Hydrochloride Phase 1 183319-69-9 176871
27 Immunoglobulin A Phase 1
28 Antibodies Phase 1
29 Immunoglobulins Phase 1

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
2 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
3 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01414985 Phase 1, Phase 2
4 Batten CLN6 Gene Therapy Active, not recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
5 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
6 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
7 Safety and Efficacy of SNX-5422 in Human Epidermal Growth Factor Receptor 2 (HER2) Positive Cancers Terminated NCT01848756 Phase 1, Phase 2 SNX-5422
8 W0261-101: A Phase 1, Single Center, Randomized, Open-Label Study to Evaluate the Bioavailability of Clindamycin From Clindamycin 1%-Benzoyl Peroxide 3% Gel, Topical Gel (Clindamycin 1%- Benzoyl Peroxide 5%), and Once Daily Gel (Clindamycin 1%-Benzoyl Peroxide 5%) in Subjects With Acne Completed NCT01132443 Phase 1 Clindamycin 1%-Benzoyl Peroxide (BPO) 3% Gel,
9 Safety and Pharmacology of SNX-5422 Plus Carboplatin and Paclitaxel in Subjects With Solid Tumors Completed NCT01892046 Phase 1 SNX-5422
10 Safety and Pharmacology Study of SNX-5422 in Subjects With Resistant Lung Adenocarcinoma Completed NCT01851096 Phase 1 SNX-5422
11 Safety and Pharmacology Study of SNX-5422 in Subjects With Refractory Hematological Malignancies Completed NCT01635712 Phase 1 SNX-5422
12 Safety and Pharmacology Study of SNX-5422 in Subjects With Refractory Solid Tumor Malignancies Completed NCT01611623 Phase 1 SNX-5422
13 Effects of 2006-RD-05 on Salivary and Serum Immunoglobulin A (IgA) Levels in Healthy Subjects Completed NCT00906438 Phase 1
14 Safety And Pharmacology Of SNX-5422 Mesylate In Subjects With Refractory Hematological Malignancies Completed NCT00595686 Phase 1 SNX-5422
15 Safety And Pharmacology Study Of SNX-5422 Mesylate In Subjects With Refractory Solid Tumor Malignancies Completed NCT00506805 Phase 1 SNX-5422
16 Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) Completed NCT00337636 Phase 1 Medication to suppress the immune system
17 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
18 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
19 Efficacy and Safety of SNX-5422 Added to an Established Dose of Ibrutinib in CLL Terminated NCT02973399 Phase 1 SNX-5422 plus ibrutinib
20 Safety and Activity of SNX-5422 Plus Ibrutinib in CLL Withdrawn NCT02914327 Phase 1 SNX-5422 plus ibrutinib
21 Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
22 Genotype - Phenotype Correlations of LINCL Completed NCT00151268
23 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
24 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
25 Collection of Cerebrospinal Fluid in Healthy Children Terminated NCT01698229

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 1

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 1

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 1:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 1 30 PPT1
2 Infantile Neuronal Ceroid Lipofuscinosis 30

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 1

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 1:

42
Brain, Bone, Lung, Eye, Testes, Bone Marrow, Retina

Publications for Ceroid Lipofuscinosis, Neuronal, 1

Articles related to Ceroid Lipofuscinosis, Neuronal, 1:

(show top 50) (show all 242)
# Title Authors Year
1
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. ( 30528883 )
2019
2
Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model. ( 30946007 )
2019
3
A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis. ( 31086824 )
2019
4
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis. ( 31105743 )
2019
5
Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis. ( 29408933 )
2018
6
Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis. ( 30089511 )
2018
7
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. ( 30119717 )
2018
8
A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report. ( 30285654 )
2018
9
Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease). ( 30323181 )
2018
10
Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation. ( 31059981 )
2018
11
MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis. ( 27765741 )
2017
12
Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis. ( 28199020 )
2017
13
Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease. ( 28334871 )
2017
14
Chronic Enzyme Replacement to the Brain of a Late Infantile Neuronal Ceroid Lipofuscinosis Mouse Has Differential Effects on Phenotypes of Disease. ( 28345005 )
2017
15
Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders. ( 28623936 )
2017
16
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan. ( 26443629 )
2016
17
Brain Region-Specific Degeneration with Disease Progression in Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease). ( 26822727 )
2016
18
A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1. ( 26846731 )
2016
19
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD. ( 27072142 )
2016
20
First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. ( 27165443 )
2016
21
Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: An Atypical Presentation. ( 27343025 )
2016
22
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis). ( 27491216 )
2016
23
The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. ( 25205113 )
2015
24
Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. ( 25439737 )
2015
25
Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis. ( 25982063 )
2015
26
A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis. ( 26032578 )
2015
27
Redefining the "hyperphotoconvulsive" response of late-infantile neuronal ceroid lipofuscinosis. ( 24262339 )
2014
28
Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease). ( 24938720 )
2014
29
Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. ( 24954537 )
2014
30
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. ( 24997880 )
2014
31
Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe? ( 25233404 )
2014
32
An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis. ( 25253854 )
2014
33
Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene. ( 25270050 )
2014
34
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. ( 25333361 )
2014
35
Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease). ( 23747979 )
2013
36
Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis. ( 23768618 )
2013
37
A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis. ( 23857568 )
2013
38
Late infantile neuronal ceroid lipofuscinosis: A case report with review of literature. ( 23956585 )
2013
39
Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease). ( 24014510 )
2013
40
Treatment of the Ppt1(-/-) mouse model of infantile neuronal ceroid lipofuscinosis with the N-methyl-D-aspartate (NMDA) receptor antagonist memantine. ( 24014511 )
2013
41
Pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. ( 24135299 )
2013
42
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. ( 22832778 )
2013
43
Assessment of disease severity in late infantile neuronal ceroid lipofuscinosis using multiparametric MR imaging. ( 23042927 )
2013
44
CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family. ( 23180398 )
2013
45
Quantitative t2 measurements in juvenile and late infantile neuronal ceroid lipofuscinosis. ( 23263384 )
2013
46
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). ( 23418007 )
2013
47
Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis. ( 23485853 )
2013
48
Late infantile neuronal ceroid lipofuscinosis and dopamine deficiency. ( 21940688 )
2012
49
Altered glutamate receptor function in the cerebellum of the Ppt1-/- mouse, a murine model of infantile neuronal ceroid lipofuscinosis. ( 21971706 )
2012
50
Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion. ( 22220808 )
2012

Variations for Ceroid Lipofuscinosis, Neuronal, 1

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 1:

76 (show all 23)
# Symbol AA change Variation ID SNP ID
1 PPT1 p.His39Gln VAR_005548 rs386833627
2 PPT1 p.Gly42Glu VAR_005549 rs386833631
3 PPT1 p.Thr75Pro VAR_005550 rs137852696
4 PPT1 p.Asp79Gly VAR_005551 rs137852697
5 PPT1 p.Tyr109Asp VAR_005552 rs386833642
6 PPT1 p.Arg122Trp VAR_005553 rs137852695
7 PPT1 p.Gln177Glu VAR_005555 rs386833650
8 PPT1 p.Val181Leu VAR_005556 rs148412181
9 PPT1 p.Val181Met VAR_005557 rs148412181
10 PPT1 p.Leu219Gln VAR_005558 rs137852698
11 PPT1 p.Tyr247His VAR_005559 rs386833665
12 PPT1 p.Gly250Val VAR_005560 rs386833666
13 PPT1 p.Gly108Arg VAR_018511 rs137852701
14 PPT1 p.Trp38Cys VAR_058434 rs386833626
15 PPT1 p.Cys45Tyr VAR_066874 rs137852702
16 PPT1 p.Ser138Leu VAR_066875 rs386833646
17 PPT1 p.Cys152Tyr VAR_066876 rs386833647
18 PPT1 p.His187Arg VAR_066877 rs386833657
19 PPT1 p.Pro189Arg VAR_066878 rs386833658
20 PPT1 p.Leu222Pro VAR_066879 rs386833661
21 PPT1 p.Val228Gly VAR_066880 rs386833663
22 PPT1 p.Trp296Arg VAR_066881 rs386833669
23 PPT1 p.Leu305Pro VAR_066882 rs386833671

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 1:

6 (show top 50) (show all 274)
# Gene Variation Type Significance SNP ID Assembly Location
1 PPT1 NM_000310.3(PPT1): c.364A> T (p.Arg122Trp) single nucleotide variant Pathogenic rs137852695 GRCh37 Chromosome 1, 40557070: 40557070
2 PPT1 NM_000310.3(PPT1): c.364A> T (p.Arg122Trp) single nucleotide variant Pathogenic rs137852695 GRCh38 Chromosome 1, 40091398: 40091398
3 PPT1 NM_000310.3(PPT1): c.223A> C (p.Thr75Pro) single nucleotide variant Pathogenic rs137852696 GRCh37 Chromosome 1, 40558081: 40558081
4 PPT1 NM_000310.3(PPT1): c.223A> C (p.Thr75Pro) single nucleotide variant Pathogenic rs137852696 GRCh38 Chromosome 1, 40092409: 40092409
5 PPT1 NM_000310.3(PPT1): c.236A> G (p.Asp79Gly) single nucleotide variant Pathogenic rs137852697 GRCh37 Chromosome 1, 40557843: 40557843
6 PPT1 NM_000310.3(PPT1): c.236A> G (p.Asp79Gly) single nucleotide variant Pathogenic rs137852697 GRCh38 Chromosome 1, 40092171: 40092171
7 PPT1 NM_000310.3(PPT1): c.656T> A (p.Leu219Gln) single nucleotide variant Pathogenic rs137852698 GRCh37 Chromosome 1, 40544302: 40544302
8 PPT1 NM_000310.3(PPT1): c.656T> A (p.Leu219Gln) single nucleotide variant Pathogenic rs137852698 GRCh38 Chromosome 1, 40078630: 40078630
9 PPT1 NM_000310.3(PPT1): c.29T> A (p.Leu10Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852699 GRCh37 Chromosome 1, 40562882: 40562882
10 PPT1 NM_000310.3(PPT1): c.29T> A (p.Leu10Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852699 GRCh38 Chromosome 1, 40097210: 40097210
11 PPT1 NM_000310.3(PPT1): c.451C> T (p.Arg151Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852700 GRCh37 Chromosome 1, 40555167: 40555167
12 PPT1 NM_000310.3(PPT1): c.451C> T (p.Arg151Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852700 GRCh38 Chromosome 1, 40089495: 40089495
13 PPT1 PPT1, 1-BP INS, 169A insertion Pathogenic
14 PPT1 PPT1, 451C-T single nucleotide variant Pathogenic
15 PPT1 NM_000310.3(PPT1): c.322G> C (p.Gly108Arg) single nucleotide variant Pathogenic rs137852701 GRCh37 Chromosome 1, 40557757: 40557757
16 PPT1 NM_000310.3(PPT1): c.322G> C (p.Gly108Arg) single nucleotide variant Pathogenic rs137852701 GRCh38 Chromosome 1, 40092085: 40092085
17 PPT1 NM_000310.3(PPT1): c.134G> A (p.Cys45Tyr) single nucleotide variant Pathogenic rs137852702 GRCh37 Chromosome 1, 40558170: 40558170
18 PPT1 NM_000310.3(PPT1): c.134G> A (p.Cys45Tyr) single nucleotide variant Pathogenic rs137852702 GRCh38 Chromosome 1, 40092498: 40092498
19 PPT1 NM_000310.3(PPT1): c.*526_*529delATCA deletion Likely pathogenic rs386833624 GRCh38 Chromosome 1, 40073532: 40073535
20 PPT1 NM_000310.3(PPT1): c.*526_*529delATCA deletion Likely pathogenic rs386833624 GRCh37 Chromosome 1, 40539204: 40539207
21 PPT1 NM_000310.3(PPT1): c.114G> A (p.Trp38Ter) single nucleotide variant Likely pathogenic rs386833626 GRCh37 Chromosome 1, 40562797: 40562797
22 PPT1 NM_000310.3(PPT1): c.114G> A (p.Trp38Ter) single nucleotide variant Likely pathogenic rs386833626 GRCh38 Chromosome 1, 40097125: 40097125
23 PPT1 NM_000310.3(PPT1): c.114G> T (p.Trp38Cys) single nucleotide variant Likely pathogenic rs386833626 GRCh37 Chromosome 1, 40562797: 40562797
24 PPT1 NM_000310.3(PPT1): c.114G> T (p.Trp38Cys) single nucleotide variant Likely pathogenic rs386833626 GRCh38 Chromosome 1, 40097125: 40097125
25 PPT1 NM_000310.3(PPT1): c.114delG (p.Trp38Cysfs) deletion Likely pathogenic rs386833625 GRCh37 Chromosome 1, 40562797: 40562797
26 PPT1 NM_000310.3(PPT1): c.114delG (p.Trp38Cysfs) deletion Likely pathogenic rs386833625 GRCh38 Chromosome 1, 40097125: 40097125
27 PPT1 NM_000310.3(PPT1): c.117T> A (p.His39Gln) single nucleotide variant Likely pathogenic rs386833627 GRCh37 Chromosome 1, 40562794: 40562794
28 PPT1 NM_000310.3(PPT1): c.117T> A (p.His39Gln) single nucleotide variant Likely pathogenic rs386833627 GRCh38 Chromosome 1, 40097122: 40097122
29 PPT1 NM_000310.3(PPT1): c.124+1G> A single nucleotide variant Likely pathogenic rs386833628 GRCh37 Chromosome 1, 40562786: 40562786
30 PPT1 NM_000310.3(PPT1): c.124+1G> A single nucleotide variant Likely pathogenic rs386833628 GRCh38 Chromosome 1, 40097114: 40097114
31 PPT1 NM_000310.3(PPT1): c.125-15T> G single nucleotide variant Likely pathogenic rs386833629 GRCh37 Chromosome 1, 40558194: 40558194
32 PPT1 NM_000310.3(PPT1): c.125-15T> G single nucleotide variant Likely pathogenic rs386833629 GRCh38 Chromosome 1, 40092522: 40092522
33 PPT1 NM_000310.3(PPT1): c.125-2A> G single nucleotide variant Likely pathogenic rs386833630 GRCh37 Chromosome 1, 40558181: 40558181
34 PPT1 NM_000310.3(PPT1): c.125-2A> G single nucleotide variant Likely pathogenic rs386833630 GRCh38 Chromosome 1, 40092509: 40092509
35 PPT1 NM_000310.3(PPT1): c.125G> A (p.Gly42Glu) single nucleotide variant Likely pathogenic rs386833631 GRCh37 Chromosome 1, 40558179: 40558179
36 PPT1 NM_000310.3(PPT1): c.125G> A (p.Gly42Glu) single nucleotide variant Likely pathogenic rs386833631 GRCh38 Chromosome 1, 40092507: 40092507
37 PPT1 NM_000310.3(PPT1): c.132_133insTGT (p.Cys46_Asn47insCys) insertion Likely pathogenic rs386833632 GRCh37 Chromosome 1, 40558169: 40558171
38 PPT1 NM_000310.3(PPT1): c.132_133insTGT (p.Cys46_Asn47insCys) insertion Likely pathogenic rs386833632 GRCh38 Chromosome 1, 40092497: 40092499
39 PPT1 NM_000310.3(PPT1): c.163A> T (p.Lys55Ter) single nucleotide variant Likely pathogenic rs386833633 GRCh37 Chromosome 1, 40558141: 40558141
40 PPT1 NM_000310.3(PPT1): c.163A> T (p.Lys55Ter) single nucleotide variant Likely pathogenic rs386833633 GRCh38 Chromosome 1, 40092469: 40092469
41 PPT1 NM_000310.3(PPT1): c.169dupA (p.Met57Asnfs) duplication Pathogenic/Likely pathogenic rs386833634 GRCh37 Chromosome 1, 40558135: 40558135
42 PPT1 NM_000310.3(PPT1): c.169dupA (p.Met57Asnfs) duplication Pathogenic/Likely pathogenic rs386833634 GRCh38 Chromosome 1, 40092463: 40092463
43 PPT1 NM_000310.3(PPT1): c.175delG (p.Glu59Argfs) deletion Pathogenic rs386833635 GRCh37 Chromosome 1, 40558129: 40558129
44 PPT1 NM_000310.3(PPT1): c.175delG (p.Glu59Argfs) deletion Pathogenic rs386833635 GRCh38 Chromosome 1, 40092457: 40092457
45 PPT1 NM_000310.3(PPT1): c.235-3T> C single nucleotide variant Likely pathogenic rs386833636 GRCh37 Chromosome 1, 40557847: 40557847
46 PPT1 NM_000310.3(PPT1): c.235-3T> C single nucleotide variant Likely pathogenic rs386833636 GRCh38 Chromosome 1, 40092175: 40092175
47 PPT1 NM_000310.3(PPT1): c.255_257delCTT (p.Phe85del) deletion Likely pathogenic rs386833637 GRCh37 Chromosome 1, 40557822: 40557824
48 PPT1 NM_000310.3(PPT1): c.255_257delCTT (p.Phe85del) deletion Likely pathogenic rs386833637 GRCh38 Chromosome 1, 40092150: 40092152
49 PPT1 NM_000310.3(PPT1): c.271_287del17insTT (p.Gln91_Cys96delinsPhe) indel Likely pathogenic rs386833638 GRCh37 Chromosome 1, 40557792: 40557808
50 PPT1 NM_000310.3(PPT1): c.271_287del17insTT (p.Gln91_Cys96delinsPhe) indel Likely pathogenic rs386833638 GRCh38 Chromosome 1, 40092120: 40092136

Expression for Ceroid Lipofuscinosis, Neuronal, 1

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 1.

Pathways for Ceroid Lipofuscinosis, Neuronal, 1

Pathways related to Ceroid Lipofuscinosis, Neuronal, 1 according to KEGG:

38
# Name Kegg Source Accession
1 Fatty acid metabolism hsa01212
2 Fatty acid elongation hsa00062
3 Lysosome hsa04142

Pathways related to Ceroid Lipofuscinosis, Neuronal, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.19 CLN3 CLN5 CTSD MFSD8 PPT1 TPP1

GO Terms for Ceroid Lipofuscinosis, Neuronal, 1

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.54 CLN3 CTSD PPT1
2 synaptic vesicle GO:0008021 9.5 CLN3 DNAJC5 PPT1
3 melanosome GO:0042470 9.43 CTSD DNAJC5 TPP1
4 lysosomal lumen GO:0043202 9.33 CTSD PPT1 TPP1
5 lysosomal membrane GO:0005765 9.26 CLN3 CLN5 DNAJC5 MFSD8
6 lysosome GO:0005764 9.1 CLN3 CLN5 CTSD MFSD8 PPT1 TPP1

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.61 CLN3 DNAJC5 PPT1
2 neuron development GO:0048666 9.52 MFSD8 PPT1
3 visual perception GO:0007601 9.49 CLN6 PPT1
4 negative regulation of proteolysis GO:0045861 9.48 CLN3 CLN8
5 ceramide metabolic process GO:0006672 9.46 CLN3 CLN8
6 lysosomal lumen acidification GO:0007042 9.46 CLN3 CLN5 CLN6 PPT1
7 neuromuscular process controlling balance GO:0050885 9.37 CLN3 TPP1
8 lysosome organization GO:0007040 9.35 CLN3 CLN6 MFSD8 PPT1 TPP1
9 associative learning GO:0008306 9.32 CLN3 PPT1
10 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
11 adult locomotory behavior GO:0008344 9.21 PPT1
12 protein catabolic process GO:0030163 9.17 CLN3 CLN5 CLN6 CLN8 CTSD PPT1
13 cellular protein catabolic process GO:0044257 9.1 PPT1

Sources for Ceroid Lipofuscinosis, Neuronal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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30 GTR
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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