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CLN1
MCID: CRD177
MIFTS: 60

Ceroid Lipofuscinosis, Neuronal, 1 (CLN1)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 1

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MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 1:

Name: Ceroid Lipofuscinosis, Neuronal, 1 57 75 13 73
Infantile Neuronal Ceroid Lipofuscinosis 25 59 75 29 55 73
Cln1 57 12 53 25 75
Neuronal Ceroid Lipofuscinosis 1 12 53 25 15
Ceroid Lipofuscinosis Neuronal 1 53 29 6
Santavuori-Haltia Disease 25 59 75
Hagberg-Santavuori Disease 59 75
Santavuori Disease 59 75
Cln1 Disease 25 59
Incl 59 75
Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits 75
Ceroid Lipofuscinosis, Neuronal, 1, Variable Age at Onset 57
Neuronal Ceroid Lipofuscinosis with Variable Age at Onset 75
Neuronal Ceroid Lipofuscinosis 1 Variable Age of Onset 12
Ceroid Lipofuscinosis, Neuronal 1, Infantile 73
Neuronal Ceroid Lipofuscinosis, Infantile 25
Lipofuscinosis, Ceroid, Neuronal, Type 1 40
Cln1 Variable Age at Onset 53
Infantile Batten Disease 25
Infantile Ncl 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
ceroid lipofuscinosis, neuronal, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


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Summaries for Ceroid Lipofuscinosis, Neuronal, 1

About this section
OMIM : 57 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, 3 and ceroid lipofuscinosis, neuronal, 9, 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 is Lysosome. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and eye, 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 : 25 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 : 75 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).

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Related Diseases for Ceroid Lipofuscinosis, Neuronal, 1

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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 all 50)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 3 31.2 TPP1 PPT1 CTSD CLN6 CLN5 CLN3
2 ceroid lipofuscinosis, neuronal, 9 31.2 CLN5 CLN6 CLN8 DNAJC5
3 ceroid lipofuscinosis, neuronal, 13 31.1 CLN5 CLN8 DNAJC5 KCTD7
4 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 31.1 CLN5 CLN6 CLN8 MFSD8
5 ceroid lipofuscinosis, neuronal, 7 30.8 MFSD8 DNAJC5 CLN8 CLN6 CLN5 CLN3
6 ceroid lipofuscinosis, neuronal, 10 30.6 DNAJC5 CTSD CLN8 CLN6 CLN5 CLN3
7 lysosomal storage disease 30.4 CLN3 PPT1 TPP1
8 ceroid lipofuscinosis, neuronal, 11 29.9 PPT1 MFSD8 KCTD7 DNAJC5 CTSD CLN8
9 adult neuronal ceroid lipofuscinosis 29.8 CLN6 DNAJC5 PPT1 TPP1
10 ceroid lipofuscinosis, neuronal, 2 29.4 TPP1 PPT1 MFSD8 KCTD7 FLI1 DNAJC5
11 neuronal ceroid lipofuscinosis 29.4 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSD
12 neuronal ceroid-lipofuscinoses 29.1 TPP1 PPT1 MFSD8 DNAJC5 CTSD CLN8
13 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.3
14 chromosome 15, trisomy mosaicism 11.1
15 epiphyseal dysplasia hearing loss dysmorphism 11.1
16 hemifacial microsomia with radial defects 11.0
17 spondylometaepiphyseal dysplasia, short limb-hand type 11.0
18 epiphyseal dysplasia, multiple, 2 11.0
19 8p23.1 duplication syndrome 11.0
20 ring chromosome 12 11.0
21 ring chromosome 6 11.0
22 ring chromosome 7 11.0
23 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.9
24 ceroid lipofuscinosis, neuronal, 5 10.9
25 ceroid lipofuscinosis, neuronal, 8 10.9
26 ceroid lipofuscinosis, neuronal, 6 10.9
27 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 10.9
28 rett syndrome 10.5
29 spinocerebellar ataxia 7 10.2
30 aspartylglucosaminuria 10.2
31 krabbe disease 10.2
32 mucolipidosis ii alpha/beta 10.2
33 aging 10.2
34 spinocerebellar ataxia, autosomal recessive 7 10.2
35 hematopoietic stem cell transplantation 10.2
36 autosomal dominant cerebellar ataxia 10.2
37 epilepsy 10.2
38 neuroaxonal dystrophy 10.2
39 precocious puberty 10.2
40 cerebrotendinous xanthomatosis 10.2
41 keratoconus posticus circumscriptus 10.0
42 neurosyphilis 10.0
43 cln4 disease 10.0
44 cerebral atrophy 10.0 CLN6 MFSD8
45 visual cortex disease 10.0 CLN8 MFSD8
46 visual pathway disease 10.0 CLN8 MFSD8
47 inherited metabolic disorder 10.0 CLN3 PPT1
48 progressive myoclonus epilepsy 10.0 CLN6 KCTD7
49 lipid storage disease 9.7 CLN3 CLN5 CLN6 CLN8 PPT1 TPP1
50 ceroid storage disease 9.6 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5

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



Diseases related to Ceroid Lipofuscinosis, Neuronal, 1
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Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 1

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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 1:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
4 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
5 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
7 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
8 abnormality of visual evoked potentials 59 32 hallmark (90%) Very frequent (99-80%) HP:0000649
9 stereotypy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000733
10 irritability 59 32 hallmark (90%) Very frequent (99-80%) HP:0000737
11 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
12 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
13 motor deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002333
14 visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000572
15 generalized hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001290
16 cerebral atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002059
17 macular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007754
18 depressivity 32 HP:0000716
19 intellectual disability 32 HP:0001249
20 muscular hypotonia 32 HP:0001252
21 sleep disturbance 32 HP:0002360
22 hallucinations 32 HP:0000738
23 global developmental delay 32 HP:0001263
24 flexion contracture 32 HP:0001371
25 abnormality of metabolism/homeostasis 32 HP:0001939
26 progressive visual loss 32 HP:0000529
27 macular degeneration 32 HP:0000608
28 mental deterioration 59 Very frequent (99-80%)
29 postnatal microcephaly 32 HP:0005484
30 psychomotor deterioration 32 HP:0002361
31 loss of speech 32 HP:0002371
32 progressive microcephaly 32 HP:0000253
33 increased neuronal autofluorescent lipopigment 32 HP:0002074
34 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654
35 undetectable electroretinogram 32 HP:0000550

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 1:


seizures, ataxia, myoclonus, sleep disturbances, muscle spasticity

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

46
# 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
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Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 1

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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 Antidotes Phase 4
4 Expectorants Phase 4
5 Antiviral Agents Phase 4
6 Protective Agents Phase 4
7 Respiratory System Agents Phase 4
8 Free Radical Scavengers Phase 4
9 N-monoacetylcystine Phase 4
10 Anti-Infective Agents Phase 4,Phase 1
11 Antioxidants 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
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
16
Carboplatin Approved Phase 1 41575-94-4 10339178 38904 498142
17 Dermatologic Agents Phase 1
18 Clindamycin palmitate Phase 1
19 Anti-Bacterial Agents Phase 1
20 Clindamycin phosphate Phase 1
21 Antineoplastic Agents, Phytogenic Phase 1
22 Antimitotic Agents Phase 1
23 Albumin-Bound Paclitaxel Phase 1
24 Protein Kinase Inhibitors Phase 1
25
Erlotinib Hydrochloride Phase 1 183319-69-9 176871
26 tyrosine Phase 1
27 Immunoglobulin A Phase 1
28 Immunoglobulins Phase 1
29 Antibodies Phase 1

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
2 Safety and Efficacy of SNX-5422 in Human Epidermal Growth Factor Receptor 2 (HER2) Positive Cancers Terminated NCT01848756 Phase 1, Phase 2 SNX-5422
3 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,
4 Safety and Pharmacology of SNX-5422 Plus Carboplatin and Paclitaxel in Subjects With Solid Tumors Completed NCT01892046 Phase 1 SNX-5422
5 Safety and Pharmacology Study of SNX-5422 in Subjects With Resistant Lung Adenocarcinoma Completed NCT01851096 Phase 1 SNX-5422
6 Safety and Pharmacology Study of SNX-5422 in Subjects With Refractory Hematological Malignancies Completed NCT01635712 Phase 1 SNX-5422
7 Safety and Pharmacology Study of SNX-5422 in Subjects With Refractory Solid Tumor Malignancies Completed NCT01611623 Phase 1 SNX-5422
8 Effects of 2006-RD-05 on Salivary and Serum Immunoglobulin A (IgA) Levels in Healthy Subjects Completed NCT00906438 Phase 1
9 Safety And Pharmacology Of SNX-5422 Mesylate In Subjects With Refractory Hematological Malignancies Completed NCT00595686 Phase 1 SNX-5422
10 Safety And Pharmacology Study Of SNX-5422 Mesylate In Subjects With Refractory Solid Tumor Malignancies Completed NCT00506805 Phase 1 SNX-5422
11 Efficacy and Safety of SNX-5422 Added to an Established Dose of Ibrutinib in CLL Active, not recruiting NCT02973399 Phase 1 SNX-5422 plus ibrutinib
12 Safety and Activity of SNX-5422 Plus Ibrutinib in CLL Withdrawn NCT02914327 Phase 1 SNX-5422 plus ibrutinib

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 1

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Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 1

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Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 1:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 1 29 PPT1
2 Infantile Neuronal Ceroid Lipofuscinosis 29
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Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 1

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

41
Brain, Bone, Eye, Testes, Bone Marrow, Retina, Cortex
Sources

Publications for Ceroid Lipofuscinosis, Neuronal, 1

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Articles related to Ceroid Lipofuscinosis, Neuronal, 1:

(show top 50) (show all 233)
# Title Authors Year
1
Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis. ( 29408933 )
2018
2
Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis. ( 30089511 )
2018
3
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. ( 30119717 )
2018
4
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
5
Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease). ( 30323181 )
2018
6
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. ( 30528883 )
2018
7
Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis. ( 28199020 )
2017
8
Chronic Enzyme Replacement to the Brain of a Late Infantile Neuronal Ceroid Lipofuscinosis Mouse Has Differential Effects on Phenotypes of Disease. ( 28345005 )
2017
9
Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease. ( 28334871 )
2017
10
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
11
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis). ( 27491216 )
2016
12
MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis. ( 27765741 )
2016
13
Brain Region-Specific Degeneration with Disease Progression in Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease). ( 26822727 )
2016
14
A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1. ( 26846731 )
2016
15
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD. ( 27072142 )
2016
16
Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: AnA Atypical Presentation. ( 27343025 )
2016
17
First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. ( 27165443 )
2016
18
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan. ( 26443629 )
2015
19
A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis. ( 26032578 )
2015
20
Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis. ( 25982063 )
2015
21
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
22
The novel Cln1R151X mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. ( 25205113 )
2014
23
An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis. ( 25253854 )
2014
24
Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease). ( 24938720 )
2014
25
Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe? ( 25233404 )
2014
26
Redefining the &amp;quot;hyperphotoconvulsive&amp;quot; response of late-infantile neuronal ceroid lipofuscinosis. ( 24262339 )
2014
27
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. ( 24997880 )
2014
28
Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene. ( 25270050 )
2014
29
Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. ( 24954537 )
2014
30
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. ( 25333361 )
2014
31
Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis. ( 23485853 )
2013
32
Late infantile neuronal ceroid lipofuscinosis: A case report with review of literature. ( 23956585 )
2013
33
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. ( 22832778 )
2013
34
Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease). ( 24014510 )
2013
35
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
36
CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family. ( 23180398 )
2013
37
Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease). ( 23747979 )
2013
38
Assessment of disease severity in late infantile neuronal ceroid lipofuscinosis using multiparametric MR imaging. ( 23042927 )
2013
39
Quantitative t2 measurements in juvenile and late infantile neuronal ceroid lipofuscinosis. ( 23263384 )
2013
40
Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis. ( 23768618 )
2013
41
Pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. ( 24135299 )
2013
42
A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis. ( 23857568 )
2013
43
Treatment of the Ppt1(-/-) mouse model of infantile neuronal ceroid lipofuscinosis with the N-methyl-D-aspartate (NMDA) receptor antagonist memantine. ( 24014511 )
2013
44
The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol. ( 22331300 )
2012
45
Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion. ( 22220808 )
2012
46
Native and Complexed IGF-1: Biodistribution and Pharmacokinetics in Infantile Neuronal Ceroid Lipofuscinosis. ( 22778966 )
2012
47
Late infantile neuronal ceroid lipofuscinosis and dopamine deficiency. ( 21940688 )
2012
48
Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification. ( 22792360 )
2012
49
Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis. ( 23131032 )
2012
50
Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis. ( 22310926 )
2012
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Variations for Ceroid Lipofuscinosis, Neuronal, 1

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

75 (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 276)
# 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 rs137852700 GRCh37 Chromosome 1, 40555167: 40555167
12 PPT1 NM_000310.3(PPT1): c.451C> T (p.Arg151Ter) single nucleotide variant 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 GRCh37 Chromosome 1, 40539204: 40539207
20 PPT1 NM_000310.3(PPT1): c.*526_*529delATCA deletion Likely pathogenic rs386833624 GRCh38 Chromosome 1, 40073532: 40073535
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
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Expression for Ceroid Lipofuscinosis, Neuronal, 1

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

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

# Super pathways Score Top Affiliating Genes
1
Lysosome 37
11.19 CLN3 CLN5 CTSD MFSD8 PPT1 TPP1
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GO Terms for Ceroid Lipofuscinosis, Neuronal, 1

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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 visual perception GO:0007601 9.67 CLN6 CLN8 PPT1
2 negative regulation of neuron apoptotic process GO:0043524 9.61 CLN3 DNAJC5 PPT1
3 neuromuscular process controlling balance GO:0050885 9.54 CLN3 CLN8 TPP1
4 neuron development GO:0048666 9.52 MFSD8 PPT1
5 adult locomotory behavior GO:0008344 9.51 CLN8 PPT1
6 associative learning GO:0008306 9.5 CLN3 CLN8 PPT1
7 negative regulation of proteolysis GO:0045861 9.48 CLN3 CLN8
8 ceramide metabolic process GO:0006672 9.46 CLN3 CLN8
9 lysosomal lumen acidification GO:0007042 9.46 CLN3 CLN5 CLN6 PPT1
10 cellular macromolecule catabolic process GO:0044265 9.43 CLN6 CLN8 PPT1
11 lysosome organization GO:0007040 9.43 CLN3 CLN6 CLN8 MFSD8 PPT1 TPP1
12 cellular protein catabolic process GO:0044257 9.4 CLN8 PPT1
13 protein catabolic process GO:0030163 9.17 CLN3 CLN5 CLN6 CLN8 CTSD PPT1
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Sources for Ceroid Lipofuscinosis, Neuronal, 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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