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INCL
MCID: NRN005
MIFTS: 61

Neuronal Ceroid-Lipofuscinoses (INCL)

Categories: Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Neuronal Ceroid-Lipofuscinoses

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MalaCards integrated aliases for Neuronal Ceroid-Lipofuscinoses:

Name: Neuronal Ceroid-Lipofuscinoses 40 37 70
Infantile Neuronal Ceroid Lipofuscinosis 20 58 29 54
Santavuori-Haltia Disease 20 58 36
Hagberg-Santavuori Disease 20 58
Lipofuscin Storage Disease 20 6
Santavuori Disease 20 58
Infantile Ncl 20 58
Incl 20 58
Neuronal Ceroid-Lipofuscinosis, Infantile 40
Juvenile Neuronal Ceroid Lipofuscinosis 70
Neuronal Ceroid Lipofuscinoses 54

Characteristics:

Orphanet epidemiological data:

58
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;

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

KEGG 36 H02277
MESH via Orphanet 45 C537948
ICD10 via Orphanet 33 E75.4
UMLS via Orphanet 71 C0268281 C2931673
Orphanet 58 ORPHA79263
UMLS 70 C0027877 C0751383
Sources

Summaries for Neuronal Ceroid-Lipofuscinoses

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GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79263 Definition Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities. Epidemiology Infantile NCL occurs worldwide but is most common in Finland with a prevalence of around 1/190,000 and incidence of 1/20,000 live births. The disorder is less frequent in other Scandinavian countries with a prevalence of below 1/1,000,000 in Sweden and Norway. Clinical description After an initial period of normal development, the disorder manifests after six months of age when mental development reaches a plateau and then starts to deteriorate, accompanied by motor dysfunction. The deterioration of mental abilities is accompanied by seizures, spasticity and loss of vision. Brain atrophy results in slower than normal growth of the head circumference and microcephaly. Stiffness and irritability may also be noted. Psychomotor abilities deteriorate rapidly and children fail to thrive leading to a vegetative state within several months. Etiology INCL is inherited in an autosomal recessive manner and is caused by mutations in the PPT1 gene (designated CLN1 ; 1p32) encoding the lysosomal enzyme palmitoyl- protein thioesterase 1. Diagnostic methods Diagnosis is based on clinical findings from neurologic and ophthalmologic examinations and development assessments, and measurement of activity of palmitoyl-protein thioesterase 1 in leukocytes, dry blood samples or cultured skin fibroblast cells. The diagnosis can be confirmed by molecular analysis. Pathologic studies reveal the presence of autofluorescent lysosomal granular osmophilic deposits (GRODs) with characteristic accumulation of saposins A and D. Differential diagnosis The differential diagnosis should include other early-onset progressive neurologic diseases, including infantile Krabbe disease, early-stage Rett syndrome and gangliosidosis (see these terms). Antenatal diagnosis Prenatal diagnosis is possible on the basis of enzymatic analysis or molecular genetic testing if the mutation in the family has already been identified. Genetic counseling Genetic counseling should be provided to affected families. Management and treatment There is no curative treatment. Management consists of palliative care including administration of anticonvulsive drugs and treatment of severe spasticity with muscular relaxants. Oral opiates or fentanyl-containing plasters can be helpful for management of painful spastic crises occurring later in the disease course. Stem cell therapy may provide an alternative treatment for INCL in the future. Prognosis The prognosis is severe but life expectancy is variable, depending on the use of supportive measures such as gastrostomy feeding.

MalaCards based summary : Neuronal Ceroid-Lipofuscinoses, also known as infantile neuronal ceroid lipofuscinosis, is related to ceroid lipofuscinosis, neuronal, 4a, autosomal recessive and ceroid lipofuscinosis, neuronal, 6, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Neuronal Ceroid-Lipofuscinoses is PPT1 (Palmitoyl-Protein Thioesterase 1), and among its related pathways/superpathways are Fatty acid metabolism and Fatty acid elongation. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and retina, and related phenotypes are spasticity and eeg abnormality

KEGG : 36 Santavuori-Haltia disease, also known as the infantile neuronal ceroid lipofuscinosis (INCL), is a rare but one of the most lethal inherited neurodegenerative lysosome storage disorders of childhood. Patients are normal at birth but by 2 years of age they manifest complete retinal blindness and by age four they would be brain-dead. It is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene.

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Related Diseases for Neuronal Ceroid-Lipofuscinoses

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

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 31.5 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN3
2 ceroid lipofuscinosis, neuronal, 6 31.5 TPP1 MFSD8 FBXL3 CLN8 CLN6 CLN5
3 ceroid lipofuscinosis, neuronal, 9 31.4 MFSD8 DNAJC5 CLN8 CLN6 CLN5 CLN3
4 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 31.2 PPT1 MFSD8 DNAJC5 CLN8 CLN6 CLN5
5 ceroid lipofuscinosis, neuronal, 2 31.0 TPP1 PPT1 MFSD8 DNAJC5 CTSD CLN8
6 ceroid lipofuscinosis, neuronal, 3 30.8 TPP1 PPT1 MFSD8 DNAJC5 CTSF CTSD
7 ceroid lipofuscinosis, neuronal, 1 30.7 TPP1 PPT1 MFSD8 DNAJC5 CTSF CTSD
8 ceroid lipofuscinosis, neuronal, 7 30.6 TPP1 PPT1 MFSD8 DNAJC5 CTSF CTSD
9 ceroid lipofuscinosis, neuronal, 11 30.6 PPT1 MFSD8 GRN DNAJC5 CTSF CLN8
10 progressive myoclonus epilepsy 30.2 TPP1 CLN6 CLN5 CLN3
11 ceroid lipofuscinosis, neuronal, 13 30.2 TPP1 PPT1 MFSD8 DNAJC5 CTSF CTSD
12 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 30.0 CTSF CLN6 CLN5
13 seizure disorder 29.9 FBXL3 CTSF CLN6 CLN5
14 gm1 gangliosidosis 29.9 PSAP CLN6 CLN3
15 aspartylglucosaminuria 29.8 PSAP CLN6 CLN5 CLN3
16 tay-sachs disease 29.7 TPP1 PSAP CLN6 CLN3
17 ceroid lipofuscinosis, neuronal, 10 29.5 TPP1 PSAP PPT1 MFSD8 GRN DNAJC5
18 mucopolysaccharidosis-plus syndrome 29.3 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN5
19 lysosomal storage disease 29.3 TPP1 PSAP PPT1 FBXL3 CTSD CLN6
20 adult neuronal ceroid lipofuscinosis 29.0 TPP1 PSAP PPT1 GRN DNAJC5 CTSF
21 neuronal ceroid lipofuscinosis 28.8 TPP1 PSAP PPT2 PPT1 MFSD8 GRN
22 spinocerebellar ataxia, autosomal recessive 7 28.3 TPP1 PPT1 MFSD8 GRN DNAJC5 CTSF
23 ceroid lipofuscinosis, neuronal, 5 11.6
24 ceroid lipofuscinosis, neuronal, 8 11.5
25 myoclonic epilepsy of unverricht and lundborg 11.3
26 cln4 disease 11.3
27 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.3
28 chromosome 15, trisomy mosaicism 11.0
29 epiphyseal dysplasia hearing loss dysmorphism 11.0
30 loeys-dietz syndrome 3 10.9
31 multiple congenital anomalies-hypotonia-seizures syndrome 10.9
32 epiphyseal dysplasia, multiple, 2 10.9
33 spondylometaepiphyseal dysplasia, short limb-hand type 10.9
34 hemifacial microsomia with radial defects 10.9
35 8p23.1 duplication syndrome 10.9
36 cortical blindness-intellectual disability-polydactyly syndrome 10.9
37 ring chromosome 12 10.9
38 ring chromosome 6 10.9
39 ring chromosome 7 10.9
40 encephalopathy 10.6
41 yemenite deaf-blind hypopigmentation syndrome 10.6
42 early myoclonic encephalopathy 10.5
43 myoclonus 10.5
44 rett syndrome 10.5
45 epilepsy 10.4
46 tremor 10.4
47 ataxia and polyneuropathy, adult-onset 10.4
48 retinal degeneration 10.4
49 cerebral atrophy 10.4
50 microcephaly 10.3

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



Diseases related to Neuronal Ceroid-Lipofuscinoses
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Symptoms & Phenotypes for Neuronal Ceroid-Lipofuscinoses

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Human phenotypes related to Neuronal Ceroid-Lipofuscinoses:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
6 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
7 abnormality of visual evoked potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0000649
8 stereotypy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000733
9 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
10 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
11 motor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002333
12 irritability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000737
13 cerebral atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002059
14 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
15 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
16 macular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007754
17 seizure 31 hallmark (90%) HP:0001250
18 seizures 58 Very frequent (99-80%)
19 mental deterioration 58 Very frequent (99-80%)

UMLS symptoms related to Neuronal Ceroid-Lipofuscinoses:


seizures; myoclonus; abnormality of extrapyramidal motor function; cerebellar signs

MGI Mouse Phenotypes related to Neuronal Ceroid-Lipofuscinoses:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 CLN3 CLN6 CLN8 CTSD CTSF DNAJC5
2 mortality/aging MP:0010768 10.11 CLN3 CLN6 CLN8 CTSD CTSF DNAJC5
3 nervous system MP:0003631 10.1 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
4 liver/biliary system MP:0005370 9.88 CLN3 GRN MFSD8 PPT1 PPT2 PSAP
5 muscle MP:0005369 9.8 DNAJC5 MFSD8 PPT1 PPT2 PSAP TPP1
6 pigmentation MP:0001186 9.55 CLN8 GRN MFSD8 PPT1 PPT2
7 renal/urinary system MP:0005367 9.43 CLN3 GRN MFSD8 PPT1 PPT2 PSAP
8 vision/eye MP:0005391 9.36 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
Sources

Drugs & Therapeutics for Neuronal Ceroid-Lipofuscinoses

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

(show top 50) (show all 98)
# 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
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
6
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
7
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
8
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
9
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
10
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
11
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
12
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
13
Metformin Approved Phase 3 657-24-9 14219 4091
14
Empagliflozin Approved Phase 3 864070-44-0
15
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
16
Clopidogrel Approved Phase 3 120202-66-6, 113665-84-2 60606
17
Ticagrelor Approved Phase 3 274693-27-5 9871419
18
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
19
Aminolevulinic acid Approved Phase 3 106-60-5 137
20
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
21
Epirubicin Approved Phase 3 56420-45-2 41867
22
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599 43805
23
Trastuzumab Approved, Investigational Phase 3 180288-69-1 9903
24
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
25
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
26 Anti-Infective Agents Phase 3
27 Antirheumatic Agents Phase 2, Phase 3
28 Alkylating Agents Phase 2, Phase 3
29 Methylprednisolone Acetate Phase 2, Phase 3
30 Immunosuppressive Agents Phase 2, Phase 3
31 Immunologic Factors Phase 2, Phase 3
32 Antilymphocyte Serum Phase 2, Phase 3
33 Anesthetics Phase 3
34 Analgesics Phase 3
35 Anti-Arrhythmia Agents Phase 3
36 Hormones Phase 3
37 Anticonvulsants Phase 3
38 Tocolytic Agents Phase 3
39 calcium channel blockers Phase 3
40 Calcium, Dietary Phase 3
41 Sitagliptin Phosphate Phase 3
42
protease inhibitors Phase 3
43 Hypoglycemic Agents Phase 3
44 Dipeptidyl-Peptidase IV Inhibitors Phase 3
45 Hormone Antagonists Phase 3
46 Incretins Phase 3
47 Sodium-Glucose Transporter 2 Inhibitors Phase 3
48 HIV Protease Inhibitors Phase 3
49 Anti-Inflammatory Agents Phase 3
50 Neurotransmitter Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 70)
# 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 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 Perioperative Magnesium Sulphate as a Cerebral Protector in Neurosurgical Patients Completed NCT01601314 Phase 3 Magnesium Sulfate
5 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
6 Talking About Traumatic Events - A Randomized Controlled Dissemination Study of the Treatment of PTSD in an African Refugee Settlement Completed NCT00550056 Phase 3
7 GLOBAL LEADERS: A Clinical Study Comparing Two Forms of Anti-platelet Therapy After Stent Implantation Completed NCT01813435 Phase 3 Ticagrelor;Acetylsalicylic Acid;Clopidogrel
8 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
9 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
10 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
11 Phase II, Randomized, Placebo Controlled Trial of the Safety and Tolerability of Mycophenolate in Children With Juvenile Neuronal Ceroid Lipofuscinosis Completed NCT01399047 Phase 2 Mycophenolate mofetil;Liquid Placebo
12 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
13 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
14 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
15 Phase I/IIa Gene Transfer Clinical Trial for Juvenile Neuronal Ceroid Lipofuscinosis, Delivering the CLN3 Gene by Self-Complementary AAV9 Active, not recruiting NCT03770572 Phase 1, Phase 2
16 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 Active, not recruiting NCT02678689 Phase 2
17 A Safety, Tolerability, and Efficacy Study of PLX-200 in Participants With Mild-to-Moderate Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) Disease Not yet recruiting NCT04637282 Phase 2 PLX-200
18 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
19 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
20 A Phase I Study of the Safety and Preliminary Effectiveness of Human CNS Stem Cells (HuCNS-SC) in Patients With Neuronal Ceroid Lipofuscinosis Caused by Palmitoyl Protein Thioesterase 1 (PPT1) or Tripeptidyl Peptidase 1 (TPP-I) Deficiency Completed NCT00337636 Phase 1 Medication to suppress the immune system
21 Evaluation of Renal Masses Using Ultrasound Intravenous Microbubble Contrast Completed NCT00671411 Phase 1 Ultrasound with intravenous microbubble contrast injection
22 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
23 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
24 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
25 Near-infrared Fluorescence Cholangiography Assisted Laparoscopic Cholecystectomy Versus Conventional Laparoscopic Cholecystectomy (FALCON): a Multicenter Randomized Controlled Trial Unknown status NCT02558556
26 New Three-dimensional Methods of Analysis for the Detection of Coronary Artery Disease by Dobutamine Stress Echocardiography Unknown status NCT02240745
27 Corpus Callosum Size in Patients With Pineal Cyst Unknown status NCT03183427
28 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT01035424
29 Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151268
30 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
31 HIV-HEART STUDY: A Prospective, Epidemiologic and Multicentre Trial to Determine the Cardiovascular Risk in HIV-infected Patients Completed NCT01196273
32 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
33 Statistical Mapping of the Brain in Progressive Supranuclear Palsy, Essential Tremor, Parkinson Disease, Parkinsonism, and REM Behavior Disorder Completed NCT01547481
34 A Culturally-Relevant Approach to Reducing Dementia Caregiver Stress in an Underserved Population Completed NCT03218982
35 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
36 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
37 Reducing Visitors- and Personnel-associated Infection Risk by Special Agitation Incl. Voice Prompts for Hand Disinfection on Perinatal Care Stations Completed NCT03032887
38 Early Detection and Prevention of Lifestyle Related Diseases - a Pilot Study Completed NCT02797392
39 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
40 Somatic-psychosocial Multidisciplinary Care Concept for Oncologic Patients Undergoing Hematopoietic Stem Cell Transplantation (HSCT): a Prospective Non-randomized Clinical Trial Completed NCT00804817
41 A Randomized Controlled Trial of Mindfulness-based Cognitive Therapy (MBCT) on Chronic Pain in Women Treated for Breast Cancer Completed NCT01674881
42 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
43 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
44 Cerliponase Alfa Observational Study Recruiting NCT04476862 Cerliponase Alfa
45 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) Recruiting NCT03307304
46 A Study in Subjects With Neuronal Ceroid Lipofuscinoses Taking Trehalose Recruiting NCT04808297
47 Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency (Neuronal Ceroid Lipofuscinosis Type 2) Patients Recruiting NCT04098211
48 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
49 Long-Term Follow-Up of AT-GTX-501 scAAV9 Gene Transfer in Subjects With CLN6 Batten Disease Recruiting NCT04273243
50 Using Normalization Process Theory to Evaluate Providing Pediatric Palliative Care at End-of-Life as Web-Based Training Intervention for Nurses: Recruiting NCT04461561

Search NIH Clinical Center for Neuronal Ceroid-Lipofuscinoses

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Neuronal Ceroid-Lipofuscinoses cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Neuronal Ceroid-Lipofuscinoses:
HuCNS-SC, human central nervous system stem cells for neurological diseases
Embryonic/Adult Cultured Cells Related to Neuronal Ceroid-Lipofuscinoses:
Human neural stem cells (HuCNS-SC) PMIDs: 16610769
Sources

Genetic Tests for Neuronal Ceroid-Lipofuscinoses

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Genetic tests related to Neuronal Ceroid-Lipofuscinoses:

# Genetic test Affiliating Genes
1 Infantile Neuronal Ceroid Lipofuscinosis 29
Sources

Anatomical Context for Neuronal Ceroid-Lipofuscinoses

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MalaCards organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

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

Publications for Neuronal Ceroid-Lipofuscinoses

About this section

Articles related to Neuronal Ceroid-Lipofuscinoses:

(show top 50) (show all 1083)
# Title Authors PMID Year
1
Nitric oxide signaling is disrupted in the yeast model for Batten disease. 6 54 61
17475770 2007
2
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 6 54 61
17565660 2007
3
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. 6 54 61
11440996 2001
4
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). 61 6 54
10679943 2000
5
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. 61 54 6
10508524 1999
6
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 54 6 61
9664077 1998
7
A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. 54 61 6
9571187 1998
8
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. 61 6
31029456 2019
9
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. 6 61
30919163 2019
10
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis. 61 6
31105743 2019
11
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients. 61 6
30541466 2018
12
[Clinical features and genetics studies of Finnish variant late infantile neuronal ceroid lipofuscinosis in two families]. 6 61
30078242 2018
13
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses. 61 6
29631617 2018
14
Proteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules. 61 6
26707855 2016
15
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). 6 61
26026925 2015
16
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. 6 61
25976102 2015
17
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. 6 61
26115733 2015
18
Congenital CLN disease in two siblings. 61 6
26059544 2015
19
Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype. 6 61
25574475 2014
20
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. 61 6
24997880 2014
21
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). 6 61
23418007 2013
22
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. 61 6
22832778 2013
23
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 6 61
23374165 2013
24
Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion. 61 6
22220808 2012
25
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 61 6
21990111 2012
26
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. 61 6
22235333 2012
27
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 61 6
21820099 2011
28
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 61 6
20340139 2010
29
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 61 6
20052765 2010
30
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. 61 6
20157158 2010
31
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. 61 6
20020536 2010
32
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. 61 6
19807737 2010
33
An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients. 61 6
19793312 2009
34
Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia. 61 6
19520283 2009
35
Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner. 6 61
18811591 2009
36
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. 6 61
19302939 2009
37
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 61 6
19201763 2009
38
Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 61 6
19038966 2009
39
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. 6 61
19135028 2009
40
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 6 61
18684116 2008
41
CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype. 61 6
17959406 2008
42
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. 6 61
17947292 2008
43
Molecular genetics of the NCLs -- status and perspectives. 61 6
16828266 2006
44
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. 6 54
16670177 2006
45
Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis. 6 61
16759889 2006
46
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 6 61
15965709 2005
47
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. 6 61
15317752 2004
48
CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. 61 6
15265688 2004
49
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. 6 61
15160397 2004
50
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 61 6
15024724 2004
Sources

Variations for Neuronal Ceroid-Lipofuscinoses

About this section

ClinVar genetic disease variations for Neuronal Ceroid-Lipofuscinoses:

6 (show top 50) (show all 1175)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLN6 NM_017882.3(CLN6):c.393_394CT[1] (p.Ser132fs) Microsatellite Pathogenic 4082 rs774543080 GRCh37: 15:68504103-68504104
GRCh38: 15:68211765-68211766
2 CLN5 , FBXL3 NM_006493.4(CLN5):c.775_776AT[1] (p.Phe260fs) Microsatellite Pathogenic 189038 rs786204644 GRCh37: 13:77574802-77574803
GRCh38: 13:77000667-77000668
3 TPP1 NM_000391.4(TPP1):c.617G>A (p.Arg206His) SNV Pathogenic 68748 rs121908209 GRCh37: 11:6638276-6638276
GRCh38: 11:6617045-6617045
4 CLN8 NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) SNV Pathogenic 205194 rs144495588 GRCh37: 8:1719719-1719719
GRCh38: 8:1771553-1771553
5 TPP1 NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) SNV Pathogenic 2642 rs119455954 GRCh37: 11:6637287-6637287
GRCh38: 11:6616056-6616056
6 TPP1 NM_000391.4(TPP1):c.1266G>C (p.Gln422His) SNV Pathogenic 68738 rs121908200 GRCh37: 11:6636673-6636673
GRCh38: 11:6615442-6615442
7 TPP1 NM_000391.4(TPP1):c.851G>T (p.Gly284Val) SNV Pathogenic 2647 rs119455957 GRCh37: 11:6637927-6637927
GRCh38: 11:6616696-6616696
8 TPP1 NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) SNV Pathogenic 189179 rs786204753 GRCh37: 11:6636448-6636448
GRCh38: 11:6615217-6615217
9 CLN3 NM_000086.2(CLN3):c.569dup (p.Ala191fs) Duplication Pathogenic 457954 rs386833732 GRCh37: 16:28497775-28497776
GRCh38: 16:28486454-28486455
10 CLN3 NC_000016.10:g.(?_28486327)_(28486670_?)del Deletion Pathogenic 457935 GRCh37:
GRCh38: 16:28486327-28486670
11 TPP1 NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) SNV Pathogenic 89086 rs398122959 GRCh37: 11:6636430-6636430
GRCh38: 11:6615199-6615199
12 TPP1 NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) SNV Pathogenic 68737 rs121908199 GRCh37: 11:6636773-6636773
GRCh38: 11:6615542-6615542
13 CLN8 NC_000008.11:g.(?_1771035)_(1780587_?)del Deletion Pathogenic 457933 GRCh37: 8:1719201-1728753
GRCh38: 8:1771035-1780587
14 TPP1 NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) SNV Pathogenic 207561 rs202189057 GRCh37: 11:6638926-6638926
GRCh38: 11:6617695-6617695
15 TPP1 NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) SNV Pathogenic 207586 rs750428882 GRCh37: 11:6637606-6637606
GRCh38: 11:6616375-6616375
16 PPT1 NM_000310.3(PPT1):c.536+1G>A SNV Pathogenic 56199 rs386833651 GRCh37: 1:40555081-40555081
GRCh38: 1:40089409-40089409
17 TPP1 NM_000391.4(TPP1):c.509-1G>A SNV Pathogenic 207574 rs56144125 GRCh37: 11:6638385-6638385
GRCh38: 11:6617154-6617154
18 PPT1 NM_000310.3(PPT1):c.628-1G>T SNV Pathogenic 56208 rs386833659 GRCh37: 1:40544331-40544331
GRCh38: 1:40078659-40078659
19 CLN5 NM_006493.4(CLN5):c.112_113insATCCGGGCTGG (p.Val38fs) Insertion Pathogenic 527726 rs1555273604 GRCh37: 13:77566342-77566343
GRCh38: 13:76992207-76992208
20 CLN5 , FBXL3 NM_006493.4(CLN5):c.956_959del (p.Lys319fs) Deletion Pathogenic 56529 rs386833967 GRCh37: 13:77574980-77574983
GRCh38: 13:77000845-77000848
21 DNAJC5 NM_025219.3(DNAJC5):c.343_345CTC[1] (p.Leu116del) Microsatellite Pathogenic 30893 rs587776892 GRCh37: 20:62562224-62562226
GRCh38: 20:63930871-63930873
22 CLN3 NC_000016.10:g.(?_28487436)_(28491779_?)del Deletion Pathogenic 527787 GRCh37: 16:28498757-28503100
GRCh38: 16:28487436-28491779
23 TPP1 NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter) SNV Pathogenic 560628 rs1564855860 GRCh37: 11:6639000-6639000
GRCh38: 11:6617769-6617769
24 CLN5 , FBXL3 NM_006493.4(CLN5):c.1026_1027AT[1] (p.Thr342_Tyr343insTer) Microsatellite Pathogenic 2564 rs386833969 GRCh37: 13:77575053-77575054
GRCh38: 13:77000918-77000919
25 CLN5 , FBXL3 NM_006493.4(CLN5):c.187del (p.Arg63fs) Deletion Pathogenic 527740 rs1555273881 GRCh37: 13:77569210-77569210
GRCh38: 13:76995075-76995075
26 CLN5 NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) SNV Pathogenic 2565 rs104894385 GRCh37: 13:77566311-77566311
GRCh38: 13:76992176-76992176
27 CLN5 , FBXL3 NM_006493.4(CLN5):c.522dup (p.Trp175fs) Duplication Pathogenic 56543 rs386833979 GRCh37: 13:77570218-77570219
GRCh38: 13:76996083-76996084
28 CLN3 NM_000086.2(CLN3):c.1001G>A (p.Arg334His) SNV Pathogenic 56244 rs386833695 GRCh37: 16:28493481-28493481
GRCh38: 16:28482160-28482160
29 TPP1 NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) SNV Pathogenic 198725 rs765380155 GRCh37: 11:6637605-6637605
GRCh38: 11:6616374-6616374
30 CLN6 NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) SNV Pathogenic 68094 rs154774640 GRCh37: 15:68510922-68510922
GRCh38: 15:68218584-68218584
31 CLN5 , FBXL3 NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs) Deletion Pathogenic 577654 GRCh37: 13:77574593-77576652
GRCh38: 13:77000458-77002517
32 overlap with 6 genes NC_000016.10:g.(?_28487456)_(28595930_?)del Deletion Pathogenic 584086 GRCh37: 16:28498777-28607251
GRCh38: 16:28487456-28595930
33 CLN3 NC_000016.10:g.(?_28486347)_(28486650_?)del Deletion Pathogenic 584138 GRCh37: 16:28497668-28497971
GRCh38: 16:28486347-28486650
34 TPP1 NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) SNV Pathogenic 207569 rs756564767 GRCh37: 11:6638858-6638858
GRCh38: 11:6617627-6617627
35 TPP1 NM_000391.4(TPP1):c.89+5G>C SNV Pathogenic 207599 rs746085696 GRCh37: 11:6640422-6640422
GRCh38: 11:6619191-6619191
36 TPP1 NM_000391.4(TPP1):c.325C>T (p.Gln109Ter) SNV Pathogenic 645209 rs1589948943 GRCh37: 11:6638912-6638912
GRCh38: 11:6617681-6617681
37 overlap with 2 genes NC_000013.11:g.(?_76991932)_(77000989_?)del Deletion Pathogenic 649631 GRCh37: 13:77566067-77575124
GRCh38: 13:76991932-77000989
38 CLN8 NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) SNV Pathogenic 2804 rs104894060 GRCh37: 8:1728482-1728482
GRCh38: 8:1780316-1780316
39 CLN6 NC_000015.10:g.(?_68229482)_(68229604_?)del Deletion Pathogenic 651807 GRCh37: 15:68521820-68521942
GRCh38: 15:68229482-68229604
40 CLN8 NC_000008.11:g.(?_1771045)_(1780577_?)del Deletion Pathogenic 647473 GRCh37: 8:1719211-1728743
GRCh38: 8:1771045-1780577
41 CLN3 NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) SNV Pathogenic 3556 rs121434286 GRCh37: 16:28493821-28493821
GRCh38: 16:28482500-28482500
42 CLN3 NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) SNV Pathogenic 56258 rs386833709 GRCh37: 16:28500619-28500619
GRCh38: 16:28489298-28489298
43 CLN3 NC_000016.10:g.(?_28485965)_(28486930_?)del Deletion Pathogenic 657904 GRCh37: 16:28497286-28498251
GRCh38: 16:28485965-28486930
44 CLN5 , FBXL3 NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) SNV Pathogenic 56544 rs386833980 GRCh37: 13:77570221-77570221
GRCh38: 13:76996086-76996086
45 CLN8 NM_018941.3(CLN8):c.295C>T (p.Gln99Ter) SNV Pathogenic 654163 rs750162094 GRCh37: 8:1719515-1719515
GRCh38: 8:1771349-1771349
46 TPP1 NM_000391.4(TPP1):c.1676_1677CT[1] (p.Leu560fs) Microsatellite Pathogenic 661918 rs759664259 GRCh37: 11:6635790-6635791
GRCh38: 11:6614559-6614560
47 CLN3 NM_000086.2(CLN3):c.1056+3A>C SNV Pathogenic 56247 rs386833698 GRCh37: 16:28493423-28493423
GRCh38: 16:28482102-28482102
48 CLN3 NM_000086.2(CLN3):c.424del (p.Val142fs) Deletion Pathogenic 56269 rs386833720 GRCh37: 16:28498813-28498813
GRCh38: 16:28487492-28487492
49 CLN8 NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) SNV Pathogenic 2802 rs104894064 GRCh37: 8:1719290-1719290
GRCh38: 8:1771124-1771124
50 CLN3 NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) SNV Pathogenic 3557 rs267606737 GRCh37: 16:28497748-28497748
GRCh38: 16:28486427-28486427
Sources

Expression for Neuronal Ceroid-Lipofuscinoses

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Search GEO for disease gene expression data for Neuronal Ceroid-Lipofuscinoses.
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Pathways for Neuronal Ceroid-Lipofuscinoses

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Pathways related to Neuronal Ceroid-Lipofuscinoses according to KEGG:

36
# Name Kegg Source Accession
1 Fatty acid metabolism hsa01212
2 Fatty acid elongation hsa00062
3 Lysosome hsa04142

Pathways related to Neuronal Ceroid-Lipofuscinoses according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Lysosome 36
11.38 TPP1 PSAP PPT2 PPT1 MFSD8 CTSF
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GO Terms for Neuronal Ceroid-Lipofuscinoses

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.92 TPP1 PSAP PPT2 PPT1 GRN CTSF
2 intracellular membrane-bounded organelle GO:0043231 9.88 PSAP PPT2 PPT1 DNAJC5 CLN6
3 Golgi apparatus GO:0005794 9.88 TPP1 PPT1 GRN DNAJC5 CLN5 CLN3
4 lysosomal membrane GO:0005765 9.7 PSAP MFSD8 GRN DNAJC5 CTSD CLN5
5 membrane raft GO:0045121 9.65 TPP1 PPT1 CTSD CLN6 CLN3
6 synaptic vesicle GO:0008021 9.63 PPT1 DNAJC5 CLN3
7 late endosome GO:0005770 9.61 PSAP GRN CLN3
8 melanosome GO:0042470 9.54 TPP1 DNAJC5 CTSD
9 lysosomal lumen GO:0043202 9.43 TPP1 PSAP PPT2 PPT1 CTSF CTSD
10 lysosome GO:0005764 9.32 TPP1 PSAP PPT2 PPT1 MFSD8 GRN

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.84 PSAP GRN DNAJC5 CTSD
2 visual perception GO:0007601 9.73 PPT1 CLN8 CLN6
3 negative regulation of neuron apoptotic process GO:0043524 9.67 PPT1 GRN DNAJC5 CLN3
4 neuromuscular process controlling balance GO:0050885 9.58 TPP1 CLN8 CLN3
5 autophagosome maturation GO:0097352 9.55 MFSD8 CLN3
6 protein catabolic process GO:0030163 9.55 TPP1 PPT1 CLN8 CLN6 CLN5
7 negative regulation of proteolysis GO:0045861 9.52 CLN8 CLN3
8 lysosomal transport GO:0007041 9.51 PSAP GRN
9 associative learning GO:0008306 9.5 PPT1 CLN8 CLN3
10 cellular protein catabolic process GO:0044257 9.49 PPT1 CLN8
11 fatty-acyl-CoA biosynthetic process GO:0046949 9.48 PPT2 PPT1
12 lysosomal protein catabolic process GO:1905146 9.46 TPP1 CLN3
13 positive regulation of pinocytosis GO:0048549 9.43 PPT1 CLN3
14 cellular macromolecule catabolic process GO:0044265 9.43 PPT1 CLN8 CLN6
15 lysosomal lumen acidification GO:0007042 9.35 PPT1 GRN CLN6 CLN5 CLN3
16 lysosome organization GO:0007040 9.23 TPP1 PPT1 MFSD8 GRN CLN8 CLN6

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

# Name GO ID Score Top Affiliating Genes
1 palmitoyl-(protein) hydrolase activity GO:0008474 9.32 PPT2 PPT1
2 thiolester hydrolase activity GO:0016790 9.26 PPT2 PPT1
3 palmitoyl hydrolase activity GO:0098599 9.16 PPT2 PPT1
4 lysophosphatidic acid binding GO:0035727 9.13 TPP1 PPT1 CLN6
5 sulfatide binding GO:0120146 8.92 TPP1 PPT1 CLN6 CLN3
Sources

Sources for Neuronal Ceroid-Lipofuscinoses

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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