INCL
MCID: NRN005
MIFTS: 41

Neuronal Ceroid-Lipofuscinoses (INCL)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Neuronal Ceroid-Lipofuscinoses

MalaCards integrated aliases for Neuronal Ceroid-Lipofuscinoses:

Name: Neuronal Ceroid-Lipofuscinoses 40 37 71
Neuronal Ceroid-Lipofuscinosis, Infantile 40
Infantile Neuronal Ceroid Lipofuscinosis 52
Juvenile Neuronal Ceroid Lipofuscinosis 71
Neuronal Ceroid Lipofuscinoses 54
Lipofuscin Storage Disease 52
Hagberg-Santavuori Disease 52
Santavuori-Haltia Disease 52
Santavuori Disease 52
Infantile Ncl 52
Incl 52

Classifications:



External Ids:

UMLS 71 C0027877 C0751383

Summaries for Neuronal Ceroid-Lipofuscinoses

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Neuronal Ceroid-Lipofuscinoses, also known as neuronal ceroid-lipofuscinosis, infantile, is related to ceroid lipofuscinosis, neuronal, 6 and ceroid lipofuscinosis, neuronal, 4a, autosomal recessive, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Neuronal Ceroid-Lipofuscinoses is CLN5 (CLN5 Intracellular Trafficking Protein), and among its related pathways/superpathways is Lysosome. The drugs Etoricoxib and Simvastatin have been mentioned in the context of this disorder. Affiliated tissues include brain, breast and testes, and related phenotypes are nervous system and vision/eye

Related Diseases for Neuronal Ceroid-Lipofuscinoses

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

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 6 32.7 CLN6 CLN5
2 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 32.4 PPT1 CLN6 CLN3
3 ceroid lipofuscinosis, neuronal, 11 31.4 CLN8 CLN6 CLN5 CLN3
4 ceroid lipofuscinosis, neuronal, 9 31.2 CLN8 CLN6 CLN5 CLN3
5 neuronal ceroid lipofuscinosis 31.2 PPT1 CLN8 CLN6 CLN5 CLN3
6 ceroid lipofuscinosis, neuronal, 1 31.2 PPT1 CLN8 CLN6 CLN5 CLN3
7 ceroid lipofuscinosis, neuronal, 3 31.2 PPT1 CLN8 CLN6 CLN5 CLN3
8 ceroid storage disease 31.1 PPT1 CLN8 CLN6 CLN5 CLN3
9 ceroid lipofuscinosis, neuronal, 7 31.0 PPT1 CLN8 CLN6 CLN5 CLN3
10 ceroid lipofuscinosis, neuronal, 2 31.0 PPT1 CLN8 CLN6 CLN5 CLN3
11 ceroid lipofuscinosis, neuronal, 10 31.0 PPT1 CLN8 CLN6 CLN5 CLN3
12 adult neuronal ceroid lipofuscinosis 30.7 PPT1 CLN6
13 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 30.7 PPT1 CLN8 CLN6 CLN5 CLN3
14 ceroid lipofuscinosis, neuronal, 13 30.7 PPT1 CLN8 CLN6 CLN5 CLN3
15 aspartylglucosaminuria 30.0 CLN6 CLN3
16 spinocerebellar ataxia, autosomal recessive 7 30.0 CLN8 CLN6
17 lysosomal storage disease 29.8 PPT1 CLN6 CLN5 CLN3
18 mucopolysaccharidosis-plus syndrome 29.7 PPT1 CLN6 CLN3
19 progressive myoclonus epilepsy 29.6 CLN6 CLN5 CLN3
20 epilepsy 29.3 CLN8 CLN6 CLN5 CLN3
21 dystonia 28.8 CLN8 CLN6 CLN3
22 visual epilepsy 28.2 PPT1 CLN8 CLN6 CLN5 CLN3
23 ceroid lipofuscinosis, neuronal, 5 12.1
24 ceroid lipofuscinosis, neuronal, 8 12.1
25 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.9
26 myoclonic epilepsy of unverricht and lundborg 11.9
27 cln4 disease 11.9
28 chromosome 15, trisomy mosaicism 11.3
29 epiphyseal dysplasia hearing loss dysmorphism 11.3
30 hemifacial microsomia with radial defects 11.1
31 spondylometaepiphyseal dysplasia, short limb-hand type 11.1
32 epiphyseal dysplasia, multiple, 2 11.1
33 loeys-dietz syndrome 3 11.1
34 multiple congenital anomalies-hypotonia-seizures syndrome 11.1
35 8p23.1 duplication syndrome 11.1
36 cortical blindness-intellectual disability-polydactyly syndrome 11.1
37 ring chromosome 12 11.1
38 ring chromosome 6 11.1
39 ring chromosome 7 11.1
40 encephalopathy 10.8
41 yemenite deaf-blind hypopigmentation syndrome 10.8
42 early myoclonic encephalopathy 10.7
43 myoclonus 10.7
44 ataxia and polyneuropathy, adult-onset 10.5
45 rett syndrome 10.5
46 48,xyyy 10.5
47 tremor 10.5
48 abnormal hair, joint laxity, and developmental delay 10.5
49 retinitis pigmentosa 10.5
50 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.5

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



Diseases related to Neuronal Ceroid-Lipofuscinoses

Symptoms & Phenotypes for Neuronal Ceroid-Lipofuscinoses

UMLS symptoms related to Neuronal Ceroid-Lipofuscinoses:


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

MGI Mouse Phenotypes related to Neuronal Ceroid-Lipofuscinoses:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 CLN3 CLN5 CLN6 CLN8 PPT1
2 vision/eye MP:0005391 9.02 CLN3 CLN5 CLN6 CLN8 PPT1

Drugs & Therapeutics for Neuronal Ceroid-Lipofuscinoses

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

(show top 50) (show all 240)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
2
Simvastatin Approved Phase 4 79902-63-9 54454
3
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
4
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
5
Glimepiride Approved Phase 4 93479-97-1 3476
6
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
7
Phenylephrine Approved Phase 4 59-42-7 6041
8
Pseudoephedrine Approved Phase 4 90-82-4 7028
9
Ephedrine Approved Phase 4 299-42-3 9294
10
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
11
Zinc Approved, Investigational Phase 4 7440-66-6 32051
12
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
13
Azithromycin Approved Phase 4 83905-01-5 447043 55185
14
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4 303-98-0 5281915
15 Analgesics Phase 4
16 Antimetabolites Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 Cyclooxygenase Inhibitors Phase 4
19 Cyclooxygenase 2 Inhibitors Phase 4
20 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
21 Anticholesteremic Agents Phase 4
22 Hypolipidemic Agents Phase 4
23 Lipid Regulating Agents Phase 4
24 Ubiquinone Phase 4
25 N-monoacetylcystine Phase 4
26 Anti-Arrhythmia Agents Phase 4
27 Neurotransmitter Agents Phase 4
28 Dipeptidyl-Peptidase IV Inhibitors Phase 4
29
protease inhibitors Phase 4
30 Sitagliptin Phosphate Phase 4
31 HIV Protease Inhibitors Phase 4
32 Incretins Phase 4
33 Cholinergic Agents Phase 4
34 Cholinesterase Inhibitors Phase 4
35 Adrenergic alpha-Agonists Phase 4
36 Respiratory System Agents Phase 4
37 Cardiotonic Agents Phase 4
38 Central Nervous System Stimulants Phase 4
39 Adrenergic Agents Phase 4
40 Nasal Decongestants Phase 4
41 Vasoconstrictor Agents Phase 4
42 Protective Agents Phase 4
43 Mydriatics Phase 4
44 Sympathomimetics Phase 4
45 Adrenergic Agonists Phase 4
46 Anti-Infective Agents Phase 4
47 Insulin, Globin Zinc Phase 4
48 insulin Phase 4
49 Hypoglycemic Agents Phase 4
50 Antiparasitic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 194)
# Name Status NCT ID Phase Drugs
1 Randomized Controlled Trial to Evaluate Implanted Event Recorders for the First Diagnosis of Atrial Fibrillation in High-risk Patients Unknown status NCT01461434 Phase 4
2 Efficacy and Safety of the Non-Steroidal Anti-Inflammatory Drug Etoricoxib in the Treatment of Acute Ankle Sprain in Sports: A Randomized Double-Blind Comparative Study Among 2 Treatments in the Acute Phase Unknown status NCT00525993 Phase 4 etoricoxib 90mg 14 days;etoricoxib 60mg daily for 14 days
3 The Value of Early PET/CT in Patients With Metastasising Cancer of Unknown Primary Unknown status NCT01469026 Phase 4
4 Living With Statins - The Impact of Cholesterol Lowering Drugs on Health, Lifestyle and Well-being Unknown status NCT02796378 Phase 4 Training+Simvastatin+Q10-placebo;Training+Simvastatin-placebo+Q10-placebo;Training+Simvastatin+Q10
5 A Combination Therapy With Cystagon and N-Acetylcysteine for INCL Patients Completed NCT00028262 Phase 4 Cystagon
6 Aortic Valve Replacement Using Closed Extracorporeal Circuit. Minimized Versus Conventional Extracorporeal Circulation Technique: Qualitative Differences Completed NCT02308566 Phase 4
7 Dietary Impacts on Glucose-lowering Effects of Sitagliptin in Type 2 Diabetes: a Multicenter, Randomized, Prospective, Open-label, Clinical Trial Completed NCT02312063 Phase 4 Sitagliptin;Glimepiride
8 Effect of Neuromuscular Blockade and Reversal by Sugammadex Versus Neostigmine on Breathing When Hypoxic or Hypercapnic in Volunteers Completed NCT02845375 Phase 4 Sugammadex;Neostigmine;Placebo
9 Influence of Vasopressors on Brain Oxygenation and Microcirculation in Anesthetized Patients With Cerebral Tumors Completed NCT02713087 Phase 4 Ephedrine;Phenylephrine
10 The Scrub Typhus Antibiotic Resistance Trial (START) Comparing Doxycycline and Azithromycin Treatment Modalities in Areas of Reported Antimicrobial Resistance for Scrub Typhus Recruiting NCT03083197 Phase 4 Doxycycline 7 days;Doxycycline 3 days;Azithromycin 3 days
11 Pilot Study for Evaluation of the Impact of Pulsatile Insulin Infusion Therapy on Vascular Function in Patients With Type 1 and Type 2 Diabetes Mellitus Recruiting NCT04030091 Phase 4 3 hours humulin R 100 IU/mL PIT;2 hours humulin R 100 IU/mL PIT
12 Randomized, Multicenter Cross-over Study in Investigating the Effect of Bicarbonate-based Solutions (Physioneal 35 vs. 40) on Protein Metabolism in Children and Adolescents on Chronic Peritoneal Dialysis Terminated NCT00776191 Phase 4 Physioneal 35;Physioneal 40
13 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
14 Transpupillary Thermotherapy Versus Photodynamic Therapy Treatment of Occult and Minimally Classic Choroidal Neovascularization in Age-Related Macular Degeneration. Unknown status NCT00260403 Phase 2, Phase 3
15 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
16 Talking About Traumatic Events - A Randomized Controlled Dissemination Study of the Treatment of PTSD in an African Refugee Settlement Completed NCT00550056 Phase 3
17 Perioperative Magnesium Sulphate as a Cerebral Protector in Neurosurgical Patients Completed NCT01601314 Phase 3 Magnesium Sulfate
18 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
19 GLOBAL LEADERS: A Clinical Study Comparing Two Forms of Anti-platelet Therapy After Stent Implantation Completed NCT01813435 Phase 3 Ticagrelor;Acetylsalicylic Acid;Clopidogrel
20 Phase 3 Trial of Adjuvant External Beam Radiotherapy for Locally Invasive Differentiated Thyroid Carcinoma Completed NCT00144079 Phase 3
21 One Year Study to Evaluate the Long-term Safety and Tolerability of Dupilumab in Pediatric Patients With Asthma Who Participated in a Previous Dupilumab Asthma Clinical Study Recruiting NCT03560466 Phase 3 Dupilumab (SAR231893/REGN668);Asthma controller therapies (incl. prednisone/prednisolone);Asthma reliever therapies
22 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
23 B-NHL 2013 - Treatment Protocol of the NHL-BFM and the NOPHO Study Groups for Mature Aggressive B-cell Lymphoma and Leukemia in Children and Adolescents Recruiting NCT03206671 Phase 3 Rituximab window;Additional doses of Rituximab;Cyclophosphamide;Cytarabine;Dexamethasone;Doxorubicin hydrochloride;Vindesine Sulfate;Etoposide;Ifosfamide;Methotrexate;Prednisolone;Vincristine
24 An Open Label, Descriptive Study to Evaluate the Clinical Utility of a Novel Formulation of Furosemide Delivered Subcutaneously in Patients Presenting With Early Signs of Fluid Overload Recruiting NCT03359161 Phase 2, Phase 3
25 Azithromycin Added to Hydrochloroquine in Patients Admitted to Intensive Care Due to Coronavirus Disease 2019 (COVID-19)- Randomised Controlled Trial Recruiting NCT04339816 Phase 3 Azithromycin;Hydroxychloroquine;Placebo
26 A Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Dupilumab in Children 6 to <12 Years of Age With Uncontrolled Persistent Asthma Active, not recruiting NCT02948959 Phase 3 Dupilumab;Placebo;Asthma Controller Therapies (incl. prednisone/prednisolone);Asthma Reliever Therapies
27 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
28 Effect of Vitamin K2 (MK7) on Cardiovascular and Bone Disease in Dialysis Patients: A Prospective, Randomized Placebo-controlled Double Blind Trial Active, not recruiting NCT02976246 Phase 2, Phase 3
29 SPondyloArthritis: Inducing Drug-free Remission by Early TNF-Alpha bloCkade Under Guidance of Single Cell RNA Sequencing and Epigenetic Profiling. "The SPARTACUS Trial" Not yet recruiting NCT04435288 Phase 3 week 24;week 36;Week 48;Week 60
30 Neurocognitive and Affective Correlates of Tobacco Dependence in Adolescent Smokers and Efficacy and Safety of Bupropion for Treatment of Adolescent Smoking Terminated NCT00248118 Phase 2, Phase 3 Bupropion
31 Combined Therapy of Malignant Salivary Gland Tumours With IMRT and Carbon Ions: COSMIC Unknown status NCT01154270 Phase 2
32 Treatment of Malignant Sinonasal Tumours With Intensity-modulated Radiotherapy (IMRT) and Carbon Ion Boost (C12) Unknown status NCT01220752 Phase 2
33 Differentiated Resistance Training of the Paravertebral Muscles in Patients With Unstable Spinal Bone Metastasis Under Concomitant Radiotherapy Unknown status NCT02847754 Phase 2
34 A Phase Ib, Open-label Study to Evaluate RAD001 as Monotherapy Treatment in Chinese Patients With Advanced Pulmonary Neuroendocrine Tumor Unknown status NCT01175096 Phase 1, Phase 2 RAD001 (everolimus, Afinitor®)
35 Randomised Placebo Controlled Trial of Faecal Microbiota Transplantation in Irritable Bowel Syndrome Unknown status NCT02423421 Phase 2
36 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
37 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
38 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
39 Patient Education After Lung Transplantation Via Tablet Computers Versus Conventional Education - a Randomized Open Controlled Trial Completed NCT01398488 Phase 2
40 Safety, Pharmacokinetics and Antiviral Effect of BI 201335 NA in HCV-1 Infected Patients Treated for 28 Days for Treatment naïve and Experienced Patients Treated in Combination With Peg Interferon Alfa-2a and Ribavirin Completed NCT00947349 Phase 2 ribavirin (RBV);pegylated interferon (PegIFN) alfa-2a;pegylated interferon (PegIFN) alfa-2a;ribavirin (RBV);BI 201335 NA low placebo;pegylated interferon (PegIFN) alfa-2a;ribavirin (RBV);BI 201335 NA high;BI 201335 NA low;BI 201335 NA high placebo;BI 201335 NA high;Placebo
41 An Open-label, Randomized, Controlled Phase-II Trial Evaluating the Efficacy and Safety of EndoTAG-1 in Triple Receptor Negative Breast Cancer Patients Completed NCT00448305 Phase 2 EndoTAG-1 + paclitaxel;EndoTAG-1;Paclitaxel
42 Comparing Different Preparations and Dosages of Rosehip Powder in Patients With Painful Osteoarthritis of the Knee: An Exploratory Randomised Controlled Trial Completed NCT01430481 Phase 2
43 Isometric Muscle Training of the Spine Musculature in Patients With Spinal Bony Metastases Under Radiation Therapy Completed NCT01409720 Phase 2
44 Immunoglobulin for Necrotizing Soft Tissue Infections: a Randomised Controlled Trial Completed NCT02111161 Phase 2 IVIG (Privigen);Saline 0.9%
45 A Dose-optimization, Exploratory Phase Ib/II Study to Assess Safety and Efficacy of the Second Mitochondrial-derived Activator of Caspases (SMAC) Mimetic Debio 1143, When Given in Combination With the Anti-PD-1 Antibody Nivolumab in Patients With Specific Solid Tumors Who Have Progressed During or Immediately After Anti-PD-1/PD-L1 Treatment Recruiting NCT04122625 Phase 1, Phase 2 Debio 1143;Nivolumab
46 A Study of the Effectiveness of Local S26E Extract Application for Diabetic Foot Ulcer Healing Recruiting NCT04186377 Phase 2 S26E
47 Phase Ib/IIa Study of Palbociclib in MLL-rearranged Acute Leukemias AMLSG 23-14/Palbo-AL-1 Recruiting NCT02310243 Phase 1, Phase 2 Palbociclib
48 Fibroblast Growth Factor Receptor (FGFR) Inhibitor Rogaratinib in Patients With Advanced Pretreated Squamous-cell Non-small Cell Lung Cancer (SQCLC) Overexpressing FGFR mRNA. A Multicenter, Single Arm Phase II Trial Recruiting NCT03762122 Phase 2 Rogaratinib
49 Intravenous Iron Supplement for Iron Deficiency in Patients With Severe Aortic Stenosis: The IIISAS Trial Recruiting NCT04206228 Phase 2 Intravenous iron isomaltoside;Placebo
50 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

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

Genetic Tests for Neuronal Ceroid-Lipofuscinoses

Anatomical Context for Neuronal Ceroid-Lipofuscinoses

MalaCards organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

40
Brain, Breast, Testes, Bone, Skin, Lung, Liver

Publications for Neuronal Ceroid-Lipofuscinoses

Articles related to Neuronal Ceroid-Lipofuscinoses:

(show top 50) (show all 631)
# Title Authors PMID Year
1
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. 54 61
19431184 2009
2
Neuronal ceroid lipofuscinoses. 54 61
19084560 2009
3
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 54 61
19177532 2009
4
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 54 61
18850119 2009
5
Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. 54 61
17896996 2007
6
Cathepsin D deficiency and NCL/Batten disease: there's more to death than apoptosis. 61 54
17495518 2007
7
Nitric oxide signaling is disrupted in the yeast model for Batten disease. 54 61
17475770 2007
8
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. 61 54
16839750 2006
9
Tripeptidyl-peptidase I in health and disease. 61 54
16895480 2006
10
[Tripeptidyl-peptidase I--distribution, biogenesis, and mechanisms of activation]. 54 61
16869297 2006
11
Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses. 54 61
15837574 2005
12
Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE). 61 54
15719035 2005
13
Ser475, Glu272, Asp276, Asp327, and Asp360 are involved in catalytic activity of human tripeptidyl-peptidase I. 54 61
15733845 2005
14
Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect. 54 61
15032383 2004
15
Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease. 61 54
14644441 2003
16
Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders. 61 54
11589013 2001
17
CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain. 61 54
10992246 2000
18
Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3. 61 54
11001812 2000
19
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. 61 54
10508524 1999
20
Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models. 61 54
10428067 1999
21
Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations. 54 61
10191110 1999
22
Gene therapy targeting the inner retina rescues the retinal phenotype in a mouse model of CLN3 Batten disease. 61
32578444 2020
23
Mfsd8 localizes to endocytic compartments and influences the secretion of Cln5 and cathepsin D in Dictyostelium. 61
32087303 2020
24
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing. 61
31919451 2020
25
A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5. 61
32393339 2020
26
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers. 61
32412666 2020
27
Implications of graded reductions in CLN6's anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses. 61
32171521 2020
28
Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum. 61
32430003 2020
29
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis. 61
31489614 2020
30
Experimental gene therapies for the NCLs. 61
32220628 2020
31
Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia. 61
31982899 2020
32
Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity. 61
31863828 2019
33
Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease. 61
31807779 2019
34
Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene. 61
31512412 2019
35
Analysis of Brain and Cerebrospinal Fluid from Mouse Models of the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Changes in the Lysosomal Proteome. 61
31501224 2019
36
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses. 61
31741823 2019
37
Positron Emission Tomography in Pediatric Neurodegenerative Disorders. 61
31416725 2019
38
Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease. 61
31393621 2019
39
Pathomechanisms in the neuronal ceroid lipofuscinoses. 61
31678162 2019
40
Perampanel attenuates myoclonus in a patient with neuronal ceroid lipofuscinoses type 2 disease. 61
31122803 2019
41
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses. 61
31678159 2019
42
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. 61
31476531 2019
43
The neuronal ceroid lipofuscinosis protein Cln7 functions in the postsynaptic cell to regulate synapse development. 61
31666534 2019
44
The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis. 61
31132336 2019
45
Gene-Based Approaches to Inherited Neurometabolic Diseases. 61
31397176 2019
46
Cellular models of Batten disease. 61
31655107 2019
47
A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism. 61
31663851 2019
48
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. 61
31029456 2019
49
Pharmacological approaches to tackle NCLs. 61
31521819 2019
50
Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome. 61
31025705 2019

Variations for Neuronal Ceroid-Lipofuscinoses

Expression for Neuronal Ceroid-Lipofuscinoses

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

Pathways for Neuronal Ceroid-Lipofuscinoses

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

# Super pathways Score Top Affiliating Genes
1 10.91 PPT1 CLN5 CLN3

GO Terms for Neuronal Ceroid-Lipofuscinoses

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.56 CLN8 CLN6 CLN5 CLN3
2 lysosome GO:0005764 9.33 PPT1 CLN5 CLN3
3 synaptic vesicle GO:0008021 9.32 PPT1 CLN3
4 cell GO:0005623 9.26 PPT1 CLN6 CLN5 CLN3
5 membrane raft GO:0045121 8.8 PPT1 CLN6 CLN3

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

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.48 PPT1 CLN3
2 negative regulation of neuron apoptotic process GO:0043524 9.46 PPT1 CLN3
3 protein catabolic process GO:0030163 9.46 PPT1 CLN8 CLN6 CLN5
4 cholesterol metabolic process GO:0008203 9.43 CLN8 CLN6
5 associative learning GO:0008306 9.4 PPT1 CLN3
6 negative regulation of proteolysis GO:0045861 9.37 CLN8 CLN3
7 positive regulation of pinocytosis GO:0048549 9.32 PPT1 CLN3
8 cellular macromolecule catabolic process GO:0044265 9.26 PPT1 CLN6
9 lysosome organization GO:0007040 9.26 PPT1 CLN6 CLN5 CLN3
10 lysosomal lumen acidification GO:0007042 8.92 PPT1 CLN6 CLN5 CLN3

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

# Name GO ID Score Top Affiliating Genes
1 lysophosphatidic acid binding GO:0035727 8.96 PPT1 CLN6
2 sulfatide binding GO:0120146 8.8 PPT1 CLN6 CLN3

Sources for Neuronal Ceroid-Lipofuscinoses

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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