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CLN1
MCID: CRD177
MIFTS: 57

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 72 13 70
Neuronal Ceroid Lipofuscinosis 1 12 20 43 29 6 15
Cln1 57 12 20 43 72
Infantile Neuronal Ceroid Lipofuscinosis 43 72 70
Santavuori-Haltia Disease 43 72
Cln1 Disease 43 58
Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits 72
Ceroid Lipofuscinosis, Neuronal, 1, Variable Age at Onset 57
Neuronal Ceroid Lipofuscinosis with Variable Age at Onset 72
Neuronal Ceroid Lipofuscinosis 1 Variable Age of Onset 12
Ceroid Lipofuscinosis, Neuronal 1, Infantile 70
Neuronal Ceroid Lipofuscinosis, Infantile 43
Lipofuscinosis, Ceroid, Neuronal, Type 1 39
Ceroid Lipofuscinosis Neuronal 1 20
Cln1 Variable Age at Onset 20
Hagberg-Santavuori Disease 72
Infantile Batten Disease 43
Santavuori Disease 72
Incl 72

Characteristics:

Orphanet epidemiological data:

58
cln1 disease
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
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:

31
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: 32 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Sources

Summaries for Ceroid Lipofuscinosis, Neuronal, 1

About this section
MedlinePlus Genetics : 43 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, 6 and ceroid lipofuscinosis, neuronal, 4a, autosomal recessive, 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, eye and t cells, and related phenotypes are intellectual disability and spasticity

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.

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 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 6 31.4 TPP1 MFSD8 CLN8 CLN6 CLN5
2 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 31.2 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN3
3 ceroid lipofuscinosis, neuronal, 9 31.1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
4 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 31.0 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
5 neuronal ceroid-lipofuscinoses 30.9 TPP1 PPT1 MFSD8 DNAJC5 CTSF CTSD
6 aspartylglucosaminuria 30.7 CLN6 CLN5 CLN3
7 ceroid lipofuscinosis, neuronal, 11 30.6 PPT1 MFSD8 KCTD7 DNAJC5 CTSF CLN8
8 early myoclonic encephalopathy 30.5 KCTD7 CLN8 CLN6
9 progressive myoclonus epilepsy 30.4 TPP1 KCTD7 CLN6 CLN5 CLN3
10 ceroid lipofuscinosis, neuronal, 3 30.4 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
11 ceroid lipofuscinosis, neuronal, 10 30.3 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
12 ceroid lipofuscinosis, neuronal, 13 30.2 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
13 ceroid lipofuscinosis, neuronal, 7 30.2 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
14 lysosomal storage disease 30.2 TPP1 PPT1 H2AC18 CTSD CLN6 CLN5
15 adult neuronal ceroid lipofuscinosis 29.8 TPP1 PPT1 DNAJC5 CTSF CLN6
16 spinocerebellar ataxia, autosomal recessive 7 29.5 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
17 ceroid lipofuscinosis, neuronal, 2 29.0 TPP1 SWI5 SRF PPT1 MFSD8 H2AC18
18 neuronal ceroid lipofuscinosis 28.7 TPP1 SWI5 SRF PPT1 MFSD8 KCTD7
19 chromosome 15, trisomy mosaicism 11.0
20 epiphyseal dysplasia hearing loss dysmorphism 11.0
21 ceroid lipofuscinosis, neuronal, 5 10.9
22 hemifacial microsomia with radial defects 10.9
23 spondylometaepiphyseal dysplasia, short limb-hand type 10.9
24 epiphyseal dysplasia, multiple, 2 10.9
25 loeys-dietz syndrome 3 10.9
26 multiple congenital anomalies-hypotonia-seizures syndrome 10.9
27 8p23.1 duplication syndrome 10.9
28 cortical blindness-intellectual disability-polydactyly syndrome 10.9
29 ring chromosome 12 10.9
30 ring chromosome 6 10.9
31 ring chromosome 7 10.9
32 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.9
33 ceroid lipofuscinosis, neuronal, 8 10.9
34 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 10.9
35 ataxia and polyneuropathy, adult-onset 10.8
36 cerebral atrophy 10.5
37 rett syndrome 10.5
38 autosomal recessive disease 10.5
39 macular degeneration, age-related, 1 10.5
40 seizure disorder 10.4
41 tremor 10.4
42 spinocerebellar ataxia 7 10.3
43 3-methylglutaconic aciduria, type iii 10.3
44 microcephaly 10.3
45 autosomal dominant cerebellar ataxia 10.3
46 febrile seizures 10.3
47 progressive myoclonus epilepsy 1a 10.3 PPT1 KCTD7
48 48,xyyy 10.3
49 epilepsy, idiopathic generalized 5 10.3 KCTD7 CLN8
50 progressive myoclonus epilepsy 1b 10.3 MFSD8 KCTD7

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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Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 1:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 spasticity 31 HP:0001257
3 eeg abnormality 31 HP:0002353
4 sleep disturbance 31 HP:0002360
5 depressivity 31 HP:0000716
6 ataxia 31 HP:0001251
7 global developmental delay 31 HP:0001263
8 hallucinations 31 HP:0000738
9 optic atrophy 31 HP:0000648
10 blindness 31 HP:0000618
11 flexion contracture 31 HP:0001371
12 progressive visual loss 31 HP:0000529
13 myoclonus 31 HP:0001336
14 irritability 31 HP:0000737
15 abnormality of metabolism/homeostasis 31 HP:0001939
16 cerebral atrophy 31 HP:0002059
17 postnatal microcephaly 31 HP:0005484
18 macular degeneration 31 HP:0000608
19 generalized hypotonia 31 HP:0001290
20 psychomotor deterioration 31 HP:0002361
21 loss of speech 31 HP:0002371
22 progressive microcephaly 31 HP:0000253
23 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654
24 seizure 31 HP:0001250
25 hypotonia 31 HP:0001252
26 increased neuronal autofluorescent lipopigment 31 HP:0002074
27 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
spasticity
ataxia
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 (Updated 20-May-2021)

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 10.07 ATP13A2 CDC20 CLN3 CLN6 CLN8 CTSD
2 mortality/aging MP:0010768 9.97 CDC14A CDC20 CDC34 CLN3 CLN6 CLN8
3 nervous system MP:0003631 9.73 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
4 vision/eye MP:0005391 9.28 CDC14A CLN3 CLN5 CLN6 CLN8 CTSD
Sources

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 top 50) (show all 82)
# 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 N-monoacetylcystine Phase 4
4
Vancomycin Approved Phase 3 1404-90-6 441141 14969
5
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
6
Metformin Approved Phase 3 657-24-9 14219 4091
7
Empagliflozin Approved Phase 3 864070-44-0
8
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
9
Clopidogrel Approved Phase 3 120202-66-6, 113665-84-2 60606
10
Ticagrelor Approved Phase 3 274693-27-5 9871419
11
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
12
Aminolevulinic acid Approved Phase 3 106-60-5 137
13
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
14
Epirubicin Approved Phase 3 56420-45-2 41867
15
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599 43805
16
Trastuzumab Approved, Investigational Phase 3 180288-69-1 9903
17
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
18 Anti-Infective Agents Phase 3
19 Anesthetics Phase 3
20 Analgesics Phase 3
21 Anti-Arrhythmia Agents Phase 3
22 Hormones Phase 3
23 Anticonvulsants Phase 3
24 Tocolytic Agents Phase 3
25 calcium channel blockers Phase 3
26 Calcium, Dietary Phase 3
27 Sitagliptin Phosphate Phase 3
28
protease inhibitors Phase 3
29 Hypoglycemic Agents Phase 3
30 Dipeptidyl-Peptidase IV Inhibitors Phase 3
31 Hormone Antagonists Phase 3
32 Incretins Phase 3
33 Sodium-Glucose Transporter 2 Inhibitors Phase 3
34 HIV Protease Inhibitors Phase 3
35 Anti-Inflammatory Agents Phase 3
36 Neurotransmitter Agents Phase 3
37 Fibrinolytic Agents Phase 3
38 Antirheumatic Agents Phase 3
39 Purinergic P2Y Receptor Antagonists Phase 3
40 Anti-Inflammatory Agents, Non-Steroidal Phase 3
41 Cyclooxygenase Inhibitors Phase 3
42 Platelet Aggregation Inhibitors Phase 3
43 Antipyretics Phase 3
44 Analgesics, Non-Narcotic Phase 3
45 Photosensitizing Agents Phase 3
46 Dermatologic Agents Phase 3
47 Mitomycins Phase 3
48
Calcium Nutraceutical Phase 3 7440-70-2 271
49 Pharmaceutical Solutions Phase 1
50
Dobutamine Approved 34368-04-2 36811

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 A Combination Therapy With Cystagon and N-Acetylcysteine for INCL Patients Completed NCT00028262 Phase 4 Cystagon
2 Rectal Bacteriotherapy, Fecal Microbiota Transplantation or Oral Vancomycin Treatment of Recurrent Clostridium Difficile Infections Unknown status NCT02774382 Phase 3 Vancomycin;Fecal microbiota transplantation;Rectal bacteriotherapy
3 Perioperative Magnesium Sulphate as a Cerebral Protector in Neurosurgical Patients Completed NCT01601314 Phase 3 Magnesium Sulfate
4 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;Placebo;Placebo;Placebo;Placebo;BI 10773;Placebo;Placebo;BI 10773;Placebo;Placebo;Placebo;BI 10773;BI 10773;BI 10773;Placebo;BI 10773;Placebo;Placebo;Placebo;Sitagliptin 100mg;BI 10773;Placebo;Placebo;Placebo;Placebo;Placebo;Placebo;Placebo
5 Talking About Traumatic Events - A Randomized Controlled Dissemination Study of the Treatment of PTSD in an African Refugee Settlement Completed NCT00550056 Phase 3
6 GLOBAL LEADERS: A Clinical Study Comparing Two Forms of Anti-platelet Therapy After Stent Implantation Completed NCT01813435 Phase 3 Ticagrelor;Acetylsalicylic Acid;Clopidogrel
7 A Randomized, Double Blind, Vehicle-controlled Multicenter Phase III Study to Evaluate the Safety and Efficacy of BF-200 ALA (Ameluz®) and BF-RhodoLED® in the Treatment of Superficial Basal Cell Carcinoma (sBCC) With Photodynamic Therapy (PDT). Recruiting NCT03573401 Phase 3
8 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 Active, not recruiting NCT02158988 Phase 3
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 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
11 Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9 Active, not recruiting NCT02725580 Phase 1, Phase 2
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 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
14 Evaluation of Renal Masses Using Ultrasound Intravenous Microbubble Contrast Completed NCT00671411 Phase 1 Ultrasound with intravenous microbubble contrast injection
15 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
16 Near-infrared Fluorescence Cholangiography Assisted Laparoscopic Cholecystectomy Versus Conventional Laparoscopic Cholecystectomy (FALCON): a Multicenter Randomized Controlled Trial Unknown status NCT02558556
17 New Three-dimensional Methods of Analysis for the Detection of Coronary Artery Disease by Dobutamine Stress Echocardiography Unknown status NCT02240745
18 Corpus Callosum Size in Patients With Pineal Cyst Unknown status NCT03183427
19 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT01035424
20 Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151268
21 HIV-HEART STUDY: A Prospective, Epidemiologic and Multicentre Trial to Determine the Cardiovascular Risk in HIV-infected Patients Completed NCT01196273
22 A Prospective, Blinded, Clinical Study for Assessing the Effectiveness of the NeuroSENSE for Monitoring the Hypnotic Depth of Anesthesia (DOA) Completed NCT02088671 Propofol induction followed by randomized doses of desflurane
23 Statistical Mapping of the Brain in Progressive Supranuclear Palsy, Essential Tremor, Parkinson Disease, Parkinsonism, and REM Behavior Disorder Completed NCT01547481
24 A Culturally-Relevant Approach to Reducing Dementia Caregiver Stress in an Underserved Population Completed NCT03218982
25 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
26 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
27 Reducing Visitors- and Personnel-associated Infection Risk by Special Agitation Incl. Voice Prompts for Hand Disinfection on Perinatal Care Stations Completed NCT03032887
28 Early Detection and Prevention of Lifestyle Related Diseases - a Pilot Study Completed NCT02797392
29 An Open, Multi-center Study Evaluating Treatment Procedure, Efficacy and Safety of Macrolane VRF30 for Enhancement of the Shape and Fullness of the Female Breast Completed NCT01308853
30 Somatic-psychosocial Multidisciplinary Care Concept for Oncologic Patients Undergoing Hematopoietic Stem Cell Transplantation (HSCT): a Prospective Non-randomized Clinical Trial Completed NCT00804817
31 A Randomized Controlled Trial of Mindfulness-based Cognitive Therapy (MBCT) on Chronic Pain in Women Treated for Breast Cancer Completed NCT01674881
32 Impact of Intensive Exercise Training Compared to Inactive Controls on Coronary Collateral Circulation and Plaque Composition in Patients With Significant Stable Coronary Artery Disease Completed NCT01209637
33 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
34 Cerliponase Alfa Observational Study Recruiting NCT04476862 Cerliponase Alfa
35 IMOVE: Improvisational Movement for People With Memory Loss and Their Caregivers Recruiting NCT03333837
36 The Role of Lumbar Proprioceptive Deficits and Psychosocial Factors in Pregnancy-related Pelvic Girdle Pain: a Follow-up Study in Multiparous Pregnant Women Recruiting NCT04226716
37 Swedish Evaluation of Left Ventricular Assist Device Recruiting NCT02592499
38 Inflammatory Parkinson's Disease (PD) Clinical Biomarker Profiling in T Cells Recruiting NCT03633513
39 Infections of the Central Nervous System - an Observational Cohort Study Recruiting NCT03856528
40 Youth Experiences and Health (YEAH) Study - Psychological Symptoms and Resources as Predictors of Mental Health Among Treatment-seeking Adolescents Recruiting NCT03332966
41 Computed Tomography With Rectal Contrast and Early Endoscopy for the Detection of Anastomotic Leaks After Left Sided Colorectal Resection. A Single Center, Prospective Trial. Recruiting NCT03148054
42 Individual Follow-up After Rectal Cancer - Focus on the Needs of the Patient Active, not recruiting NCT03622437
43 COVID-19 Pandemic Impact on Patients With Cancer - a Danish Survey Active, not recruiting NCT04389996
44 Selection of Hip Prosthesis for Younger Patients? Primoris® Short Femur Component vs. Echo® Standard Femur Component. Comparison of Bone Re-modeling, Prosthetic Migration and Gait Function. Controlled Randomized Study of 60 Patients. Active, not recruiting NCT03279276
45 A Retrospective, Chart Review Study to Evaluate Ocular Disease Progression in Children With Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Not yet recruiting NCT04480476
46 Collection of Cerebrospinal Fluid in Healthy Children Terminated NCT01698229
47 Self-management Training for Parents With Chronic Muscular Dystrophia Withdrawn NCT02641275

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 Neuronal Ceroid Lipofuscinosis 1 29 PPT1
Sources

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 1

About this section

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

40
Brain, Eye, T Cells, Pineal, Bone
Sources

Publications for Ceroid Lipofuscinosis, Neuronal, 1

About this section

Articles related to Ceroid Lipofuscinosis, Neuronal, 1:

(show top 50) (show all 77)
# Title Authors PMID Year
1
The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. 6 57
25205113 2015
2
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. 6 57
17261688 2007
3
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. 57 6
11506414 2001
4
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. 57 6
10416973 1999
5
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 57 6
9664077 1998
6
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. 6 57
9425237 1998
7
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. 57 6
7637805 1995
8
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. 61 6
26275418 2015
9
Structural basis of neuronal ceroid lipofuscinosis 1. 6 61
19793631 2010
10
Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients. 61 57
4698309 1973
11
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients. 6
30541466 2018
12
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 6
28559085 2017
13
The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells. 6
28878621 2017
14
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 6
26795593 2016
15
BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE. 6
26510000 2016
16
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 6
26075876 2015
17
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. 6
24997880 2014
18
A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis. 6
23857568 2013
19
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 6
23539563 2013
20
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 6
23374165 2013
21
Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series. 6
22387303 2012
22
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 6
21990111 2012
23
Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients. 6
21704547 2011
24
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 6
21499717 2011
25
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
26
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 6
19941651 2009
27
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. 6
19302939 2009
28
Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice. 57
18704195 2008
29
Analysis of NCL Proteins from an Evolutionary Standpoint. 6
19440452 2008
30
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 6
17565660 2007
31
[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis]. 6
17044973 2006
32
Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL. 57
16571600 2006
33
Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL. 57
16368712 2006
34
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 57
15965709 2005
35
Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). 6
15464427 2004
36
The genetic spectrum of human neuronal ceroid-lipofuscinoses. 6
14997939 2004
37
Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. 6
12796825 2003
38
Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. 57
11717424 2001
39
Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis. 6
11520175 2001
40
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. 6
11440996 2001
41
New mutations in the neuronal ceroid lipofuscinosis genes. 6
11589012 2001
42
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. 6
10781062 2000
43
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. 6
10649502 2000
44
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). 6
10679943 2000
45
Neuronal ceroid lipofuscinoses: research update. 6
11073228 2000
46
Batten's disease: eight genes and still counting? 57
10465165 1999
47
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants. 57
10874636 1999
48
Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency. 6
10191107 1999
49
The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. 6
10191109 1999
50
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5. 6
10477428 1999
Sources

Variations for Ceroid Lipofuscinosis, Neuronal, 1

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

6 (show top 50) (show all 265)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPT1 NM_001142604.2(PPT1):c.125-2659A>G SNV Pathogenic 8901 rs137852697 GRCh37: 1:40557843-40557843
GRCh38: 1:40092171-40092171
2 PPT1 NM_000310.3(PPT1):c.656T>A (p.Leu219Gln) SNV Pathogenic 8902 rs137852698 GRCh37: 1:40544302-40544302
GRCh38: 1:40078630-40078630
3 PPT1 PPT1, 1-BP INS, 169A Insertion Pathogenic 8905 GRCh37:
GRCh38:
4 PPT1 PPT1, 451C-T SNV Pathogenic 8906 GRCh37:
GRCh38:
5 PPT1 NM_001142604.2(PPT1):c.125-2573G>C SNV Pathogenic 8907 rs137852701 GRCh37: 1:40557757-40557757
GRCh38: 1:40092085-40092085
6 PPT1 NM_001142604.2(PPT1):c.125-2986G>A SNV Pathogenic 8908 rs137852702 GRCh37: 1:40558170-40558170
GRCh38: 1:40092498-40092498
7 PPT1 NM_000310.3(PPT1):c.175del (p.Glu59fs) Deletion Pathogenic 56183 rs386833635 GRCh37: 1:40558129-40558129
GRCh38: 1:40092457-40092457
8 PPT1 NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) SNV Pathogenic 56198 rs386833650 GRCh37: 1:40555089-40555089
GRCh38: 1:40089417-40089417
9 PPT1 NM_000310.3(PPT1):c.871C>T (p.Gln291Ter) SNV Pathogenic 56217 rs386833668 GRCh37: 1:40539783-40539783
GRCh38: 1:40074111-40074111
10 PPT1 NM_000310.3(PPT1):c.727-2A>T SNV Pathogenic 56213 rs386833664 GRCh37: 1:40542587-40542587
GRCh38: 1:40076915-40076915
11 PPT1 NM_000310.4(PPT1):c.69_125-76del Deletion Pathogenic 666429 GRCh37: 1:40558255-40562842
GRCh38: 1:40092583-40097170
12 PPT1 NM_001142604.2(PPT1):c.125-2560_125-2559del Deletion Pathogenic 649994 rs1570470281 GRCh37: 1:40557743-40557744
GRCh38: 1:40092071-40092072
13 PPT1 NM_000310.3(PPT1):c.629_630dup (p.Ile211fs) Duplication Pathogenic 662960 rs1302326945 GRCh37: 1:40544327-40544328
GRCh38: 1:40078655-40078656
14 PPT1 NM_000310.4(PPT1):c.6del (p.Ser3fs) Deletion Pathogenic 664850 rs1570476221 GRCh37: 1:40562905-40562905
GRCh38: 1:40097233-40097233
15 PPT1 NC_000001.11:g.(?_40089400)_(40097248_?)del Deletion Pathogenic 831860 GRCh37: 1:40555072-40562920
GRCh38:
16 PPT1 NM_000310.4(PPT1):c.102del (p.Leu35fs) Deletion Pathogenic 835915 GRCh37: 1:40562809-40562809
GRCh38: 1:40097137-40097137
17 PPT1 NM_000310.4(PPT1):c.124+1215_235-103del Deletion Pathogenic 846185 GRCh37: 1:40557947-40561572
GRCh38: 1:40092275-40095900
18 PPT1 NM_000310.4(PPT1):c.289_290del (p.Gln97fs) Deletion Pathogenic 856480 GRCh37: 1:40557789-40557790
GRCh38: 1:40092117-40092118
19 PPT1 NM_000310.3(PPT1):c.234+1G>A SNV Pathogenic 206642 rs796052923 GRCh37: 1:40558069-40558069
GRCh38: 1:40092397-40092397
20 PPT1 NM_000310.4(PPT1):c.727-1G>A SNV Pathogenic 949356 GRCh37: 1:40542586-40542586
GRCh38: 1:40076914-40076914
21 PPT1 NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) SNV Pathogenic 8900 rs137852696 GRCh37: 1:40558081-40558081
GRCh38: 1:40092409-40092409
22 PPT1 NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) SNV Pathogenic 8899 rs137852695 GRCh37: 1:40557070-40557070
GRCh38: 1:40091398-40091398
23 PPT1 NM_000310.4(PPT1):c.541G>A SNV Pathogenic/Likely pathogenic 188857 rs148412181 GRCh37: 1:40546155-40546155
GRCh38: 1:40080483-40080483
24 PPT1 NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) SNV Pathogenic/Likely pathogenic 8903 rs137852699 GRCh37: 1:40562882-40562882
GRCh38: 1:40097210-40097210
25 PPT1 NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) SNV Pathogenic/Likely pathogenic 8904 rs137852700 GRCh37: 1:40555167-40555167
GRCh38: 1:40089495-40089495
26 PPT1 NM_000310.3(PPT1):c.169dup (p.Met57fs) Duplication Pathogenic/Likely pathogenic 56182 rs386833634 GRCh37: 1:40558134-40558135
GRCh38: 1:40092462-40092463
27 PPT1 NM_000310.3(PPT1):c.541G>T (p.Val181Leu) SNV Pathogenic/Likely pathogenic 56202 rs148412181 GRCh37: 1:40546155-40546155
GRCh38: 1:40080483-40080483
28 PPT1 NM_000310.3(PPT1):c.628-1G>T SNV Pathogenic/Likely pathogenic 56208 rs386833659 GRCh37: 1:40544331-40544331
GRCh38: 1:40078659-40078659
29 PPT1 NM_000310.3(PPT1):c.3G>A (p.Met1Ile) SNV Pathogenic/Likely pathogenic 56193 rs386833645 GRCh37: 1:40562908-40562908
GRCh38: 1:40097236-40097236
30 PPT1 NM_001142604.2(PPT1):c.181C>T (p.Arg61Ter) SNV Pathogenic/Likely pathogenic 56197 rs386833649 GRCh37: 1:40555128-40555128
GRCh38: 1:40089456-40089456
31 PPT1 NM_000310.3(PPT1):c.1A>G (p.Met1Val) SNV Likely pathogenic 225446 rs1085307087 GRCh37: 1:40562910-40562910
GRCh38: 1:40097238-40097238
32 PPT1 NM_000310.3(PPT1):c.29_41dup (p.Leu15fs) Duplication Likely pathogenic 551166 rs762226836 GRCh37: 1:40562869-40562870
GRCh38: 1:40097197-40097198
33 PPT1 NM_000310.3(PPT1):c.835C>T (p.Gln279Ter) SNV Likely pathogenic 551569 rs1553166135 GRCh37: 1:40539819-40539819
GRCh38: 1:40074147-40074147
34 PPT1 NM_000310.3(PPT1):c.18_21del (p.Leu7fs) Deletion Likely pathogenic 551901 rs1553167863 GRCh37: 1:40562890-40562893
GRCh38: 1:40097218-40097221
35 PPT1 NM_000310.3(PPT1):c.363-2A>G SNV Likely pathogenic 552006 rs1553167430 GRCh37: 1:40557073-40557073
GRCh38: 1:40091401-40091401
36 PPT1 NM_000310.3(PPT1):c.799-2A>G SNV Likely pathogenic 552968 rs1553166147 GRCh37: 1:40539857-40539857
GRCh38: 1:40074185-40074185
37 PPT1 NM_001142604.2(PPT1):c.125-2614_125-2613del Deletion Likely pathogenic 554329 rs1553167479 GRCh37: 1:40557797-40557798
GRCh38: 1:40092125-40092126
38 PPT1 NM_001363695.2(PPT1):c.726+1696dup Duplication Likely pathogenic 557103 rs1349528345 GRCh37: 1:40542535-40542536
GRCh38: 1:40076863-40076864
39 PPT1 NM_000310.3(PPT1):c.433+1G>A SNV Likely pathogenic 557200 rs1553167415 GRCh37: 1:40557000-40557000
GRCh38: 1:40091328-40091328
40 PPT1 NM_000310.3(PPT1):c.721del (p.Ser241fs) Deletion Likely pathogenic 557311 rs1553166499 GRCh37: 1:40544237-40544237
GRCh38: 1:40078565-40078565
41 PPT1 NM_001142604.2(PPT1):c.125-2557del Deletion Likely pathogenic 558294 rs1553167474 GRCh37: 1:40557741-40557741
GRCh38: 1:40092069-40092069
42 PPT1 NM_000310.3(PPT1):c.798+2T>C SNV Likely pathogenic 558381 rs1553166337 GRCh37: 1:40542512-40542512
GRCh38: 1:40076840-40076840
43 PPT1 NM_000310.3(PPT1):c.327C>A (p.Tyr109Ter) SNV Likely pathogenic 370384 rs1057516447 GRCh37: 1:40557752-40557752
GRCh38: 1:40092080-40092080
44 PPT1 NM_000310.3(PPT1):c.529C>T (p.Gln177Ter) SNV Likely pathogenic 370716 rs386833650 GRCh37: 1:40555089-40555089
GRCh38: 1:40089417-40089417
45 PPT1 NM_000310.3(PPT1):c.821dup (p.Met274fs) Duplication Likely pathogenic 370544 rs1057516575 GRCh37: 1:40539832-40539833
GRCh38: 1:40074160-40074161
46 PPT1 NM_000310.3(PPT1):c.124+2T>A SNV Likely pathogenic 371560 rs1057517368 GRCh37: 1:40562785-40562785
GRCh38: 1:40097113-40097113
47 PPT1 NM_000310.3(PPT1):c.2T>C (p.Met1Thr) SNV Likely pathogenic 206651 rs796052927 GRCh37: 1:40562909-40562909
GRCh38: 1:40097237-40097237
48 PPT1 NM_000310.3(PPT1):c.8C>A (p.Ser3Ter) SNV Likely pathogenic 371280 rs747204624 GRCh37: 1:40562903-40562903
GRCh38: 1:40097231-40097231
49 PPT1 NM_000310.3(PPT1):c.362+1G>A SNV Likely pathogenic 371602 rs1057517401 GRCh37: 1:40557716-40557716
GRCh38: 1:40092044-40092044
50 PPT1 NM_001142604.2(PPT1):c.125-2936del Deletion Likely pathogenic 371338 rs1057517192 GRCh37: 1:40558120-40558120
GRCh38: 1:40092448-40092448

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

72 (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

Sources

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 36
11.27 TPP1 PPT1 MFSD8 CTSF CTSD CLN5
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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 9.65 TPP1 PPT1 CTSD CLN6 CLN3
2 lysosomal membrane GO:0005765 9.63 MFSD8 DNAJC5 CTSD CLN5 CLN3 ATP13A2
3 synaptic vesicle GO:0008021 9.54 PPT1 DNAJC5 CLN3
4 melanosome GO:0042470 9.5 TPP1 DNAJC5 CTSD
5 lysosomal lumen GO:0043202 9.35 TPP1 PPT1 CTSF CTSD ATP13A2
6 lysosome GO:0005764 9.23 TPP1 PPT1 MFSD8 CTSF CTSD CLN5

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.72 PPT1 DNAJC5 CLN3
2 neuron development GO:0048666 9.67 SRF PPT1 MFSD8
3 associative learning GO:0008306 9.62 SRF PPT1 CLN8 CLN3
4 neuromuscular process controlling balance GO:0050885 9.58 TPP1 CLN8 CLN3
5 negative regulation of proteolysis GO:0045861 9.56 CLN8 CLN3
6 protein catabolic process GO:0030163 9.55 TPP1 PPT1 CLN8 CLN6 CLN5
7 cellular protein catabolic process GO:0044257 9.54 PPT1 CLN8
8 megakaryocyte development GO:0035855 9.52 SRF FLI1
9 glycerophospholipid biosynthetic process GO:0046474 9.51 FAR1 CLN3
10 lysosomal protein catabolic process GO:1905146 9.48 TPP1 CLN3
11 autophagosome-lysosome fusion GO:0061909 9.46 CLN3 ATP13A2
12 positive regulation of pinocytosis GO:0048549 9.43 PPT1 CLN3
13 cellular macromolecule catabolic process GO:0044265 9.43 PPT1 CLN8 CLN6
14 regulation of lysosomal protein catabolic process GO:1905165 9.37 MFSD8 ATP13A2
15 lysosomal lumen acidification GO:0007042 9.26 PPT1 CLN6 CLN5 CLN3
16 lysosome organization GO:0007040 9.17 TPP1 PPT1 MFSD8 CLN8 CLN6 CLN5

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

# Name GO ID Score Top Affiliating Genes
1 lysophosphatidic acid binding GO:0035727 9.13 TPP1 PPT1 CLN6
2 sulfatide binding GO:0120146 8.92 TPP1 PPT1 CLN6 CLN3
Sources

Sources for Ceroid Lipofuscinosis, Neuronal, 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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