CLN1
MCID: CRD177
MIFTS: 58

Ceroid Lipofuscinosis, Neuronal, 1 (CLN1)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 1

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 1:

Name: Ceroid Lipofuscinosis, Neuronal, 1 57 73 71
Neuronal Ceroid Lipofuscinosis 1 11 19 42 28 5 14
Cln1 57 11 19 42 73
Infantile Neuronal Ceroid Lipofuscinosis 42 73 71
Santavuori-Haltia Disease 42 73
Cln1 Disease 42 58
Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits 73
Ceroid Lipofuscinosis, Neuronal, 1, Variable Age at Onset 57
Neuronal Ceroid Lipofuscinosis with Variable Age at Onset 73
Neuronal Ceroid Lipofuscinosis 1 Variable Age of Onset 11
Ceroid Lipofuscinosis, Neuronal 1, Infantile 71
Neuronal Ceroid Lipofuscinosis, Infantile 42
Lipofuscinosis, Ceroid, Neuronal, Type 1 38
Ceroid Lipofuscinosis Neuronal 1 19
Cln1 Variable Age at Onset 19
Hagberg-Santavuori Disease 73
Infantile Batten Disease 42
Santavuori Disease 73
Incl 73

Characteristics:


Inheritance:

Ceroid Lipofuscinosis, Neuronal, 1: Autosomal recessive 57
Cln1 Disease: Autosomal recessive 58

Prevelance:

Cln1 Disease: 1-9/100000 (Finland) 58

Age Of Onset:

Cln1 Disease: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
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)


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Ceroid Lipofuscinosis, Neuronal, 1

MedlinePlus Genetics: 42 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, nerve cells in the brain 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.Some people with CLN1 disease do not develop symptoms until later in childhood or in adulthood. As with younger affected children, older individuals develop a decline in intellectual function, myoclonus, epilepsy, and vision loss. In these individuals, life expectancy depends on when signs and symptoms of CLN1 disease develop and their severity; affected individuals may survive only into adolescence or through adulthood. Adults with CLN1 disease may also have movement disorders, including impaired muscle coordination (ataxia) or a pattern of movement abnormalities known as parkinsonism.CLN1 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.

MalaCards based summary: Ceroid Lipofuscinosis, Neuronal, 1, also known as neuronal ceroid lipofuscinosis 1, is related to ceroid lipofuscinosis, neuronal, 3 and ceroid lipofuscinosis, neuronal, 6b, and has symptoms including ataxia, myoclonus and sleep disturbances. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 1 is PPT1 (Palmitoyl-Protein Thioesterase 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and t cells, and related phenotypes are intellectual disability and seizure

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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).

Disease Ontology: 11 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.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 1

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 4 Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 6b Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 6a
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 195)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 3 31.7 PPT1 DNAJC5
2 ceroid lipofuscinosis, neuronal, 6b 31.6 PPT1 DNAJC5
3 ceroid lipofuscinosis, neuronal, 4 31.6 DNAJC5 C14orf178
4 ceroid lipofuscinosis, neuronal, 9 31.6 PPT1 DNAJC5
5 ceroid lipofuscinosis, neuronal, 10 31.6 PPT1 DNAJC5
6 ceroid lipofuscinosis, neuronal, 11 31.5 PPT1 DNAJC5
7 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 31.5 PPT1 DNAJC5
8 spinocerebellar ataxia, autosomal recessive 7 30.7 PPT1 DNAJC5
9 fundus dystrophy 28.8 TTC30B PPT1 IFT81 IFT46 IFT22
10 epiphyseal dysplasia hearing loss dysmorphism 11.1
11 ceroid lipofuscinosis, neuronal, 2 11.1
12 ceroid lipofuscinosis, neuronal, 8 11.0
13 ceroid lipofuscinosis, neuronal, 5 11.0
14 ceroid lipofuscinosis, neuronal, 6a 11.0
15 hemifacial microsomia with radial defects 11.0
16 spondylometaepiphyseal dysplasia, short limb-hand type 11.0
17 n syndrome 11.0
18 loeys-dietz syndrome 3 11.0
19 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 11.0
20 8p23.1 duplication syndrome 11.0
21 axial mesodermal dysplasia spectrum 11.0
22 chromosome 15, trisomy mosaicism 11.0
23 coloboma of iris 11.0
24 demodicidosis 11.0
25 dysmorphism cleft palate loose skin 11.0
26 ring chromosome 12 11.0
27 ring chromosome 19 11.0
28 ring chromosome 3 11.0
29 ring chromosome 5 11.0
30 ring chromosome 6 11.0
31 ring chromosome 7 11.0
32 trichoodontoonychial dysplasia 11.0
33 mosaic trisomy 15 11.0
34 distal trisomy 9q 11.0
35 ceroid lipofuscinosis, neuronal, 7 10.9
36 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 10.9
37 ceroid lipofuscinosis, neuronal, 13 10.9
38 multiple epiphyseal dysplasia with robin phenotype 10.8
39 neuropathy, congenital hypomyelinating, 1, autosomal recessive 10.8
40 robin sequence with distinctive facial appearance and brachydactyly 10.8
41 charcot-marie-tooth disease, type 4h 10.8
42 hamamy syndrome 10.8
43 chromosome 15q26-qter deletion syndrome 10.8
44 chromosome 13q14 deletion syndrome 10.8
45 congenital cataracts, hearing loss, and neurodegeneration 10.8
46 seckel syndrome 7 10.8
47 combined oxidative phosphorylation deficiency 12 10.8
48 lamb-shaffer syndrome 10.8
49 drug-induced lupus erythematosus 10.8
50 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.8

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:

30 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 HP:0001249
2 seizure 30 HP:0001250
3 spasticity 30 HP:0001257
4 eeg abnormality 30 HP:0002353
5 sleep disturbance 30 HP:0002360
6 depression 30 HP:0000716
7 ataxia 30 HP:0001251
8 hypotonia 30 HP:0001252
9 global developmental delay 30 HP:0001263
10 hallucinations 30 HP:0000738
11 optic atrophy 30 HP:0000648
12 blindness 30 HP:0000618
13 flexion contracture 30 HP:0001371
14 progressive visual loss 30 HP:0000529
15 myoclonus 30 HP:0001336
16 irritability 30 HP:0000737
17 abnormality of metabolism/homeostasis 30 HP:0001939
18 cerebral atrophy 30 HP:0002059
19 macular degeneration 30 HP:0000608
20 generalized hypotonia 30 HP:0001290
21 loss of speech 30 HP:0002371
22 psychomotor deterioration 30 HP:0002361
23 progressive microcephaly 30 HP:0000253
24 increased neuronal autofluorescent lipopigment 30 HP:0002074
25 undetectable electroretinogram 30 HP:0000550
26 decreased light- and dark-adapted electroretinogram amplitude 30 HP:0000654
27 secondary microcephaly 30 HP:0005484

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
ataxia
hypotonia
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:
depression
hallucinations
irritability
sleep disturbances
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 (Updated 08-Dec-2022)

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 1:


ataxia; myoclonus; sleep disturbances; seizures; muscle spasticity

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 1

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

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 581 12035
2
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
3 N-monoacetylcystine Phase 4
4
Cisplatin Approved Phase 3 15663-27-1 2767 5702198 441203
5
Epirubicin Approved Phase 3 56420-45-2 41867
6
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
7
Trastuzumab Approved, Investigational Phase 3 180288-69-1
8
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 43805 11947679 6857599
9
Mitomycin Approved Phase 3 50-07-7 5746
10
Metformin Approved Phase 3 1115-70-4, 657-24-9 4091
11
Empagliflozin Approved Phase 3 864070-44-0 73151030 11949646
12
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
13
Magnesium sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9
14 Hormones Phase 3
15
Sitagliptin Phosphate Phase 3 654671-77-9
16 Hormone Antagonists Phase 3
17 HIV Protease Inhibitors Phase 3
18 Sodium-Glucose Transporter 2 Inhibitors Phase 3
19 Dipeptidyl-Peptidase IV Inhibitors Phase 3
20 Incretins Phase 3
21
protease inhibitors Phase 3
22 Anti-Arrhythmia Agents Phase 3
23 Calcium, Dietary Phase 3
24 Anticonvulsants Phase 3
25 calcium channel blockers Phase 3
26 Anesthetics Phase 3
27 Analgesics Phase 3
28 Tocolytic Agents Phase 3
29
Calcium Nutraceutical Phase 3 7440-70-2 271
30 Insulin, Globin Zinc Phase 1, Phase 2
31
Insulin Phase 1, Phase 2
32
Maraviroc Approved, Investigational 376348-65-1 3002977
33
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
34
Tannic acid Approved 1401-55-4 16129878 16129778
35
Metronidazole Approved 443-48-1, 69198-10-3 4173
36 Disinfectants
37 Raltegravir Potassium
38 Hypoglycemic Agents

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 A Combination Therapy With Cystagon and N-Acetylcysteine for INCL Patients Completed NCT00028262 Phase 4 Cystagon
2 Prospective Multicenter Phase III Trial Using CRS With / Without HIPEC After Preoperative Chemotherapy in Patients With Peritoneal Carcinomatosis of Gastric Cancer Incl. Adenocarcinoma of the Esophagogastric Junction Completed NCT02158988 Phase 3
3 A Phase III Double-blind, Extension, Placebo-controlled Parallel Group Safety and Efficacy Trial of BI 10773 (10 and 25mg Once Daily) and Sitagliptin (100mg Once Daily) Given for Minimum 76 Weeks (Incl. 24 Weeks of Preceding Trial) as Monotherapy or With Different Back-ground Therapies in Patients With Type 2 Diabetes Mellitus Previously Completing Trial 1245.19, 1245.20 or 1245.23 Completed NCT01289990 Phase 3 BI 10773;Placebo;Sitagliptin 100mg
4 Perioperative Magnesium Sulphate as a Cerebral Protector in Neurosurgical Patients Completed NCT01601314 Phase 3 Magnesium Sulfate
5 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 Type 2 (CLN2) Disease Completed NCT01907087 Phase 1, Phase 2
6 Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9 Completed NCT02725580 Phase 1, Phase 2
7 A Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Completed NCT02678689 Phase 2
8 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Completed NCT02485899 Phase 1, Phase 2
9 Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With LINCL With Uncommon Genotypes and/or Moderate to Severe Impairment Completed NCT01414985 Phase 1, Phase 2
10 A Proof of Concept Trial of a Sirtuin-NAD Activator in Alzheimer's Disease Recruiting NCT05040321 Phase 1, Phase 2 MIB-626;Placebo
11 Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children With Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151216 Phase 1
12 Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Completed NCT01161576 Phase 1
13 A Phase Ib Study of the Safety and Preliminary Efficacy of Allogeneic Intracerebral Human Central Nervous System Stem Cell Transplantation in Subjects With Non-Refractory Infantile and Late Infantile Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
14 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT01035424
15 Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151268
16 Natural History of Progression of Atrophy Secondary to Stargardt Disease: Retrospective, and Prospective Longitudinal Observational Study Incl. Ancillary SMART Study- Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease Completed NCT01977846
17 Reducing Visitors- and Personnel-associated Infection Risk by Special Agitation Incl. Voice Prompts for Hand Disinfection on Perinatal Care Stations Completed NCT03032887
18 NEW ERA STUDY - HIV and Eradication: A Multicenter, Open-label, Non-randomized Trial to Evaluate Treatment With Multi-drug Class (MDC) HAART and Its Impact on the Decay Rate of Latently Infected CD4+ T Cells Incl. Amendment 1.0 Completed NCT00908544
19 IMOVE: Improvisational Movement for People With Memory Loss and Their Caregivers Completed NCT03333837
20 A Study to Evaluate the Ability of Speech- and Language-based Digital Biomarkers to Detect and Characterise Prodromal and Preclinical Alzheimer's Disease in a Clinical Setting Completed NCT04928976
21 A Study to Evaluate the Ability of Speech- and Language-based Digital Biomarkers to Detect and Characterise Prodromal and Preclinical Alzheimer's Disease in a Clinical Setting Completed NCT04828122
22 A Culturally-Relevant Approach to Reducing Dementia Caregiver Stress in an Underserved Population Completed NCT03218982
23 Statistical Mapping of the Brain in Progressive Supranuclear Palsy, Essential Tremor, Parkinson Disease, Parkinsonism, and REM Behavior Disorder Completed NCT01547481
24 A Natural History and Outcome Measure Discovery Study of Variant Late Infantile Neuronal Ceroid Lipofuscinosis Type 5 (CLN5) and Variant Late Infantile Neuronal Ceroid Lipofuscinosis Type 7 (CLN7) Recruiting NCT03822650
25 Cerliponase Alfa Observational Study Recruiting NCT04476862 Cerliponase Alfa
26 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
27 Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database Recruiting NCT04613089
28 Thetha Nami Ngithethe Nawe ("Let's Talk"): A Step-wedge cRCT of Social Mobilisation by Peer-navigators Into Community-based Sexual Health and HIV Care (Incl. PrEP) to Reduce Sexually Transmissible HIV Amongst Youth in Rural KwaZulu-Natal Recruiting NCT05405582
29 A Study to Evaluate the Ability of Speech- and Language-based Digital Biomarkers to Detect and Characterise Prodromal and Preclinical Alzheimer's Disease in a Clinical Setting - AMYPRED-US PAST Extension Study Recruiting NCT04937959
30 Beyond Listening: A Music-based Caregiver Intervention Recruiting NCT04840173
31 A Study to Evaluate the Ability of Speech- and Language-based Digital Biomarkers to Detect and Characterise Prodromal and Preclinical Alzheimer's Disease in a Clinical Setting - PAST Extension Study. Recruiting NCT04851496
32 A Study to Evaluate the Ability of Speech- and Language-based Digital Biomarkers to Detect and Characterise Prodromal and Preclinical Alzheimer's Disease in a Clinical Setting - FUTURE Extension Study. Recruiting NCT04846426
33 A Study to Evaluate the Ability of Speech- and Language-based Digital Biomarkers to Detect and Characterise Prodromal and Preclinical Alzheimer's Disease in a Clinical Setting - AMYPRED-US FUTURE Extension Study. Recruiting NCT04951284
34 Feasibility of Self-Administered Hypnosis for Sleep Quality in Caregivers of Individuals With Alzheimer's Disease Active, not recruiting NCT04779866
35 Enhancing Shared Decision-making to Prompt and Guide Individualized Care for People With Alzheimer's Disease and Diabetes Not yet recruiting NCT05643144
36 Prediction of Amyloid and Mild Cognitive Impairment in Early Stage Alzheimer's Disease From Remote Speech Phenotyping (EARS) Not yet recruiting NCT04928690
37 Correlation of Motor Metrics and Neurological Data (COMMAND) Not yet recruiting NCT05462080
38 Collection of Cerebrospinal Fluid in Healthy Children Terminated NCT01698229
39 A Retrospective, Chart Review Study to Evaluate Ocular Disease Progression in Children With Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Withdrawn NCT04480476

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 Neuronal Ceroid Lipofuscinosis 1 28 PPT1

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 1

Organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 1:

MalaCards : Brain, Eye, T Cells, Bone Marrow, Liver, Heart, Bone
ODiseA: Brain

Publications for Ceroid Lipofuscinosis, Neuronal, 1

Articles related to Ceroid Lipofuscinosis, Neuronal, 1:

(show top 50) (show all 2544)
# Title Authors PMID Year
1
The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. 62 57 5
25205113 2015
2
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. 62 57 5
11506414 2001
3
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 62 57 5
9664077 1998
4
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. 62 57 5
9425237 1998
5
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. 62 57 5
7637805 1995
6
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. 57 5
17261688 2007
7
The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells. 62 5
28878621 2017
8
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. 62 5
26275418 2015
9
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. 62 5
24997880 2014
10
A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis. 62 5
23857568 2013
11
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 62 5
23539563 2013
12
Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series. 62 5
22387303 2012
13
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 62 5
21990111 2012
14
Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients. 62 5
21704547 2011
15
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 62 5
21499717 2011
16
Structural basis of neuronal ceroid lipofuscinosis 1. 62 5
19793631 2010
17
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 62 5
19941651 2009
18
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. 62 5
19302939 2009
19
Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice. 62 57
18704195 2008
20
Analysis of NCL Proteins from an Evolutionary Standpoint. 62 5
19440452 2008
21
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 62 5
17565660 2007
22
[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis]. 62 5
17044973 2006
23
Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL. 62 57
16571600 2006
24
Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL. 62 57
16368712 2006
25
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 62 57
15965709 2005
26
Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). 62 5
15464427 2004
27
The genetic spectrum of human neuronal ceroid-lipofuscinoses. 62 5
14997939 2004
28
Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. 62 5
12796825 2003
29
Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. 62 57
11717424 2001
30
Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis. 62 5
11520175 2001
31
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. 62 5
11440996 2001
32
New mutations in the neuronal ceroid lipofuscinosis genes. 62 5
11589012 2001
33
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. 62 5
10781062 2000
34
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). 62 5
10679943 2000
35
Neuronal ceroid lipofuscinoses: research update. 62 5
11073228 2000
36
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. 62 57
10416973 1999
37
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants. 62 57
10874636 1999
38
Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency. 62 5
10191107 1999
39
The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. 62 5
10191109 1999
40
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5. 62 5
10477428 1999
41
A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. 62 5
9571187 1998
42
Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL. 62 57
9535296 1998
43
The neuronal ceroid-lipofuscinoses. 62 57
8576551 1995
44
MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients. 62 57
8576553 1995
45
Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD). 62 57
7668323 1995
46
Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus. 62 57
7789974 1995
47
Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. 62 57
8325646 1993
48
Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus. 62 57
2071142 1991
49
Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. 62 57
1672288 1991
50
Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses. 62 57
2249855 1990

Variations for Ceroid Lipofuscinosis, Neuronal, 1

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

5 (show top 50) (show all 437)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPT1 NM_000310.4(PPT1):c.656T>A (p.Leu219Gln) SNV Pathogenic
8902 rs137852698 GRCh37: 1:40544302-40544302
GRCh38: 1:40078630-40078630
2 PPT1 NM_000310.4(PPT1):c.322G>C (p.Gly108Arg) SNV Pathogenic
8907 rs137852701 GRCh37: 1:40557757-40557757
GRCh38: 1:40092085-40092085
3 PPT1 NM_000310.4(PPT1):c.134G>A (p.Cys45Tyr) SNV Pathogenic
8908 rs137852702 GRCh37: 1:40558170-40558170
GRCh38: 1:40092498-40092498
4 PPT1 NM_000310.4(PPT1):c.665T>C (p.Leu222Pro) SNV Pathogenic
56210 rs386833661 GRCh37: 1:40544293-40544293
GRCh38: 1:40078621-40078621
5 PPT1 NM_000310.4(PPT1):c.236A>G (p.Asp79Gly) SNV Pathogenic
8901 rs137852697 GRCh37: 1:40557843-40557843
GRCh38: 1:40092171-40092171
6 PPT1 NM_000310.4(PPT1):c.871C>T (p.Gln291Ter) SNV Pathogenic
56217 rs386833668 GRCh37: 1:40539783-40539783
GRCh38: 1:40074111-40074111
7 PPT1 NM_000310.4(PPT1):c.69_125-76del DEL Pathogenic
666429 GRCh37: 1:40558255-40562842
GRCh38: 1:40092583-40097170
8 PPT1 NM_000310.4(PPT1):c.124+1215_235-103del DEL Pathogenic
846185 GRCh37: 1:40557947-40561572
GRCh38: 1:40092275-40095900
9 PPT1 NC_000001.10:g.(?_40557947)_40561572del DEL Pathogenic
1070722 GRCh37:
GRCh38:
10 PPT1 NM_000310.4(PPT1):c.102del (p.Leu35fs) DEL Pathogenic
835915 rs1649901192 GRCh37: 1:40562809-40562809
GRCh38: 1:40097137-40097137
11 PPT1 NM_000310.4(PPT1):c.741C>A (p.Tyr247Ter) SNV Pathogenic
1388947 GRCh37: 1:40542571-40542571
GRCh38: 1:40076899-40076899
12 PPT1 NM_000310.4(PPT1):c.29_41del (p.Leu10fs) DEL Pathogenic
1455107 GRCh37: 1:40562870-40562882
GRCh38: 1:40097198-40097210
13 PPT1 NM_000310.4(PPT1):c.2T>A (p.Met1Lys) SNV Pathogenic
1389507 GRCh37: 1:40562909-40562909
GRCh38: 1:40097237-40097237
14 PPT1 NM_000310.4(PPT1):c.728G>A (p.Trp243Ter) SNV Pathogenic
1385000 GRCh37: 1:40542584-40542584
GRCh38: 1:40076912-40076912
15 PPT1 NM_000310.4(PPT1):c.289_290del (p.Gln97fs) DEL Pathogenic
856480 rs1649597261 GRCh37: 1:40557789-40557790
GRCh38: 1:40092117-40092118
16 PPT1 NM_000310.4(PPT1):c.614_620del (p.Ile205fs) DEL Pathogenic
1071260 GRCh37: 1:40546076-40546082
GRCh38: 1:40080404-40080410
17 PPT1 NM_000310.4(PPT1):c.263del (p.Val88fs) DEL Pathogenic
1073044 GRCh37: 1:40557816-40557816
GRCh38: 1:40092144-40092144
18 PPT1 NM_000310.4(PPT1):c.51G>A (p.Trp17Ter) SNV Pathogenic
1074230 GRCh37: 1:40562860-40562860
GRCh38: 1:40097188-40097188
19 PPT1 NM_000310.4(PPT1):c.343_344dup (p.Gln116fs) MICROSAT Pathogenic
1076529 GRCh37: 1:40557734-40557735
GRCh38: 1:40092062-40092063
20 PPT1 NM_000310.4(PPT1):c.529C>G (p.Gln177Glu) SNV Pathogenic
56198 rs386833650 GRCh37: 1:40555089-40555089
GRCh38: 1:40089417-40089417
21 PPT1 NM_000310.4(PPT1):c.727-2A>T SNV Pathogenic
56213 rs386833664 GRCh37: 1:40542587-40542587
GRCh38: 1:40076915-40076915
22 PPT1 NM_000310.4(PPT1):c.335_336del (p.Met112fs) DEL Pathogenic
649994 rs1570470281 GRCh37: 1:40557743-40557744
GRCh38: 1:40092071-40092072
23 PPT1 NM_000310.4(PPT1):c.629_630dup (p.Ile211fs) DUP Pathogenic
662960 rs1302326945 GRCh37: 1:40544327-40544328
GRCh38: 1:40078655-40078656
24 PPT1 NC_000001.11:g.(?_40089400)_(40097248_?)del DEL Pathogenic
831860 GRCh37: 1:40555072-40562920
GRCh38:
25 PPT1 NM_000310.4(PPT1):c.175del (p.Glu59fs) DEL Pathogenic
56183 rs386833635 GRCh37: 1:40558129-40558129
GRCh38: 1:40092457-40092457
26 PPT1 NM_000310.4(PPT1):c.6del (p.Ser3fs) DEL Pathogenic
664850 rs1570476221 GRCh37: 1:40562905-40562905
GRCh38: 1:40097233-40097233
27 PPT1 NM_000310.4(PPT1):c.712_713del (p.Pro238fs) DEL Pathogenic
1069555 GRCh37: 1:40544245-40544246
GRCh38: 1:40078573-40078574
28 PPT1 NM_000310.4(PPT1):c.541G>C (p.Val181Leu) SNV Pathogenic
1072746 GRCh37: 1:40546155-40546155
GRCh38: 1:40080483-40080483
29 PPT1 NM_000310.4(PPT1):c.234+1G>A SNV Pathogenic
206642 rs796052923 GRCh37: 1:40558069-40558069
GRCh38: 1:40092397-40092397
30 PPT1 NM_000310.4(PPT1):c.727-1G>A SNV Pathogenic
949356 rs1648659458 GRCh37: 1:40542586-40542586
GRCh38: 1:40076914-40076914
31 PPT1 NC_000001.10:g.(?_40558060)_(40561460_?)del DEL Pathogenic
1454858 GRCh37: 1:40558060-40561460
GRCh38:
32 PPT1 NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) SNV Pathogenic
8899 rs137852695 GRCh37: 1:40557070-40557070
GRCh38: 1:40091398-40091398
33 PPT1 NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) SNV Pathogenic
8900 rs137852696 GRCh37: 1:40558081-40558081
GRCh38: 1:40092409-40092409
34 PPT1 NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) SNV Pathogenic/Likely Pathogenic
8903 rs137852699 GRCh37: 1:40562882-40562882
GRCh38: 1:40097210-40097210
35 PPT1 NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) SNV Pathogenic/Likely Pathogenic
8904 rs137852700 GRCh37: 1:40555167-40555167
GRCh38: 1:40089495-40089495
36 PPT1 NM_000310.4(PPT1):c.550G>A (p.Glu184Lys) SNV Pathogenic/Likely Pathogenic
56204 rs386833655 GRCh37: 1:40546146-40546146
GRCh38: 1:40080474-40080474
37 PPT1 NM_000310.4(PPT1):c.541G>A (p.Val181Met) SNV Pathogenic/Likely Pathogenic
188857 rs148412181 GRCh37: 1:40546155-40546155
GRCh38: 1:40080483-40080483
38 PPT1 NM_000310.4(PPT1):c.433+1G>A SNV Pathogenic/Likely Pathogenic
557200 rs1553167415 GRCh37: 1:40557000-40557000
GRCh38: 1:40091328-40091328
39 PPT1 NM_000310.4(PPT1):c.169dup (p.Met57fs) DUP Pathogenic/Likely Pathogenic
56182 rs386833634 GRCh37: 1:40558134-40558135
GRCh38: 1:40092462-40092463
40 PPT1 NM_000310.4(PPT1):c.713C>T (p.Pro238Leu) SNV Pathogenic/Likely Pathogenic
236407 rs878853322 GRCh37: 1:40544245-40544245
GRCh38: 1:40078573-40078573
41 PPT1 NM_000310.4(PPT1):c.776dup (p.Glu260fs) DUP Pathogenic/Likely Pathogenic
557103 rs1349528345 GRCh37: 1:40542535-40542536
GRCh38: 1:40076863-40076864
42 PPT1 NM_000310.4(PPT1):c.721del (p.Ser241fs) DEL Pathogenic/Likely Pathogenic
557311 rs1553166499 GRCh37: 1:40544237-40544237
GRCh38: 1:40078565-40078565
43 PPT1 NM_000310.4(PPT1):c.541G>T (p.Val181Leu) SNV Pathogenic/Likely Pathogenic
56202 rs148412181 GRCh37: 1:40546155-40546155
GRCh38: 1:40080483-40080483
44 PPT1 NM_000310.4(PPT1):c.628-1G>T SNV Pathogenic/Likely Pathogenic
56208 rs386833659 GRCh37: 1:40544331-40544331
GRCh38: 1:40078659-40078659
45 PPT1 NM_000310.4(PPT1):c.3G>A (p.Met1Ile) SNV Pathogenic/Likely Pathogenic
56193 rs386833645 GRCh37: 1:40562908-40562908
GRCh38: 1:40097236-40097236
46 PPT1 NM_000310.4(PPT1):c.490C>T (p.Arg164Ter) SNV Pathogenic/Likely Pathogenic
56197 rs386833649 GRCh37: 1:40555128-40555128
GRCh38: 1:40089456-40089456
47 PPT1 NM_000310.4(PPT1):c.424C>T (p.Gln142Ter) SNV Pathogenic/Likely Pathogenic
206645 rs796052925 GRCh37: 1:40557010-40557010
GRCh38: 1:40091338-40091338
48 PPT1 NM_000310.4(PPT1):c.683T>G (p.Val228Gly) SNV Likely Pathogenic
56212 rs386833663 GRCh37: 1:40544275-40544275
GRCh38: 1:40078603-40078603
49 PPT1 NM_000310.4(PPT1):c.327C>A (p.Tyr109Ter) SNV Likely Pathogenic
370384 rs1057516447 GRCh37: 1:40557752-40557752
GRCh38: 1:40092080-40092080
50 PPT1 NM_000310.4(PPT1):c.529C>T (p.Gln177Ter) SNV Likely Pathogenic
370716 rs386833650 GRCh37: 1:40555089-40555089
GRCh38: 1:40089417-40089417

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

73 (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

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.15 TTC30B IFT81 IFT46 IFT22
2 11.58 TTC30B IFT81 IFT46 IFT22
3
Show member pathways
11.05 PPT1 ACSBG2
4 10.66 TTC30B IFT81 IFT46 IFT22

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 cilium GO:0005929 9.76 TTC30B IFT81 IFT46 IFT22
2 ciliary tip GO:0097542 9.56 TTC30B IFT81 IFT46 IFT22
3 intraciliary transport particle B GO:0030992 9.23 TTC30B IFT81 IFT46 IFT22

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.76 TTC30B IFT81 IFT46 IFT22
2 intraciliary transport GO:0042073 9.43 TTC30B IFT81 IFT46
3 intraciliary anterograde transport GO:0035720 9.23 TTC30B IFT81 IFT46 IFT22

Sources for Ceroid Lipofuscinosis, Neuronal, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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