CLN1
MCID: CRD177
MIFTS: 62

Ceroid Lipofuscinosis, Neuronal, 1 (CLN1)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 1

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 1:

Name: Ceroid Lipofuscinosis, Neuronal, 1 56 73 13 71
Infantile Neuronal Ceroid Lipofuscinosis 25 58 73 29 54 71
Neuronal Ceroid Lipofuscinosis 1 12 52 25 29 6 15
Cln1 56 12 52 25 73
Santavuori-Haltia Disease 25 58 73 36
Hagberg-Santavuori Disease 58 73
Santavuori Disease 58 73
Cln1 Disease 25 58
Incl 58 73
Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits 73
Ceroid Lipofuscinosis, Neuronal, 1, Variable Age at Onset 56
Neuronal Ceroid Lipofuscinosis with Variable Age at Onset 73
Neuronal Ceroid Lipofuscinosis 1 Variable Age of Onset 12
Ceroid Lipofuscinosis, Neuronal 1, Infantile 71
Neuronal Ceroid Lipofuscinosis, Infantile 25
Lipofuscinosis, Ceroid, Neuronal, Type 1 39
Ceroid Lipofuscinosis Neuronal 1 52
Cln1 Variable Age at Onset 52
Infantile Batten Disease 25
Infantile Ncl 58

Characteristics:

Orphanet epidemiological data:

58
cln1 disease
Inheritance: Autosomal recessive; Age of onset: All ages;
infantile neuronal ceroid lipofuscinosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Sweden),1-9/1000000 (Sweden),1-9/1000000 (Finland),1-9/100000 (Finland),<1/1000000 (Norway); Age of onset: Infancy,Neonatal; Age of death: late childhood;

OMIM:

56
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:

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


Summaries for Ceroid Lipofuscinosis, Neuronal, 1

Genetics Home Reference : 25 CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, 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 infantile neuronal ceroid lipofuscinosis, is related to neuronal ceroid-lipofuscinoses and ceroid lipofuscinosis, neuronal, 6, 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 are Fatty acid metabolism and Fatty acid elongation. The drugs Etoricoxib and Simvastatin have been mentioned in the context of this disorder. Affiliated tissues include brain, breast and bone, and related phenotypes are microcephaly and optic atrophy

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 : 56 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)

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.

UniProtKB/Swiss-Prot : 73 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).

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 1

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 119)
# Related Disease Score Top Affiliating Genes
1 neuronal ceroid-lipofuscinoses 32.4 PPT1 CLN8 CLN6 CLN5 CLN3
2 ceroid lipofuscinosis, neuronal, 6 31.9 MFSD8 CLN6 CLN5
3 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 31.5 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN3
4 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 31.2 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
5 ceroid lipofuscinosis, neuronal, 9 31.1 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
6 ceroid storage disease 30.7 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
7 ceroid lipofuscinosis, neuronal, 3 30.7 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
8 ceroid lipofuscinosis, neuronal, 10 30.6 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
9 ceroid lipofuscinosis, neuronal, 11 30.6 TPP1 MFSD8 KCTD7 DNAJC5 CTSF CLN8
10 progressive myoclonus epilepsy 30.5 TPP1 KCTD7 CLN6 CLN5 CLN3
11 spinocerebellar ataxia, autosomal recessive 7 30.3 TPP1 MFSD8 KCTD7 CTSF CLN8 CLN6
12 adult neuronal ceroid lipofuscinosis 30.3 TPP1 PPT1 DNAJC5 CLN6
13 lysosomal storage disease 30.1 TPP1 PPT1 H2AC18 CTSD CLN6 CLN5
14 ceroid lipofuscinosis, neuronal, 13 30.1 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
15 ceroid lipofuscinosis, neuronal, 7 30.1 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
16 ceroid lipofuscinosis, neuronal, 2 29.5 TPP1 SWI5 SRF PPT1 H2AC18 FLI1
17 visual epilepsy 29.3 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
18 neuronal ceroid lipofuscinosis 27.5 TPP1 SWI5 SRF PPT2 PPT1 MFSD8
19 ceroid lipofuscinosis, neuronal, 5 11.4
20 chromosome 15, trisomy mosaicism 11.3
21 epiphyseal dysplasia hearing loss dysmorphism 11.3
22 hemifacial microsomia with radial defects 11.1
23 spondylometaepiphyseal dysplasia, short limb-hand type 11.1
24 epiphyseal dysplasia, multiple, 2 11.1
25 loeys-dietz syndrome 3 11.1
26 multiple congenital anomalies-hypotonia-seizures syndrome 11.1
27 8p23.1 duplication syndrome 11.1
28 cortical blindness-intellectual disability-polydactyly syndrome 11.1
29 ring chromosome 12 11.1
30 ring chromosome 6 11.1
31 ring chromosome 7 11.1
32 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.1
33 ceroid lipofuscinosis, neuronal, 8 11.1
34 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.1
35 ataxia and polyneuropathy, adult-onset 10.8
36 myoclonus 10.7
37 macular degeneration, age-related, 1 10.7
38 cerebral atrophy 10.6
39 rett syndrome 10.5
40 autosomal recessive disease 10.5
41 48,xyyy 10.5
42 tremor 10.5
43 spinocerebellar ataxia 7 10.4
44 3-methylglutaconic aciduria, type iii 10.4
45 microcephaly 10.4
46 autosomal dominant cerebellar ataxia 10.4
47 febrile seizures 10.4
48 seizure disorder 10.4
49 encephalopathy 10.4
50 aspartylglucosaminuria 10.2

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



Diseases related to Ceroid Lipofuscinosis, Neuronal, 1

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 1

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 1:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
3 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
4 abnormality of visual evoked potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0000649
5 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
6 stereotypy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000733
7 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
8 irritability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000737
9 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
10 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
11 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
12 motor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002333
13 cerebral atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002059
14 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
15 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
16 macular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007754
17 seizure 31 hallmark (90%) HP:0001250
18 intellectual disability 31 HP:0001249
19 global developmental delay 31 HP:0001263
20 muscular hypotonia 31 HP:0001252
21 hallucinations 31 HP:0000738
22 seizures 58 Very frequent (99-80%)
23 sleep disturbance 31 HP:0002360
24 flexion contracture 31 HP:0001371
25 abnormality of metabolism/homeostasis 31 HP:0001939
26 progressive visual loss 31 HP:0000529
27 depressivity 31 HP:0000716
28 mental deterioration 58 Very frequent (99-80%)
29 postnatal microcephaly 31 HP:0005484
30 macular degeneration 31 HP:0000608
31 psychomotor deterioration 31 HP:0002361
32 loss of speech 31 HP:0002371
33 progressive microcephaly 31 HP:0000253
34 increased neuronal autofluorescent lipopigment 31 HP:0002074
35 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654
36 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM:

56
Neurologic Behavioral Psychiatric Manifestations:
hallucinations
irritability
sleep disturbances
depression
hyperexcitability

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 Central Nervous System:
seizures
spasticity
ataxia
myoclonus
loss of speech
more
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

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 1:


seizures, ataxia, myoclonus, sleep disturbances, muscle spasticity

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 ATP13A2 CDC20 CLN3 CLN6 CLN8 CTSD
2 mortality/aging MP:0010768 10.17 CDC14A CDC20 CDC34 CLN3 CLN6 CLN8
3 nervous system MP:0003631 9.97 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
4 muscle MP:0005369 9.8 DNAJC5 FLI1 MFSD8 PPT1 PPT2 SRF
5 pigmentation MP:0001186 9.35 ATP13A2 CLN8 MFSD8 PPT1 PPT2
6 vision/eye MP:0005391 9.28 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 1

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

(show top 50) (show all 235)
# 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 181)
# 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 Talking About Traumatic Events - A Randomized Controlled Dissemination Study of the Treatment of PTSD in an African Refugee Settlement Completed NCT00550056 Phase 3
16 Perioperative Magnesium Sulphate as a Cerebral Protector in Neurosurgical Patients Completed NCT01601314 Phase 3 Magnesium Sulfate
17 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
18 GLOBAL LEADERS: A Clinical Study Comparing Two Forms of Anti-platelet Therapy After Stent Implantation Completed NCT01813435 Phase 3 Ticagrelor;Acetylsalicylic Acid;Clopidogrel
19 Phase 3 Trial of Adjuvant External Beam Radiotherapy for Locally Invasive Differentiated Thyroid Carcinoma Completed NCT00144079 Phase 3
20 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
21 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
22 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
23 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
24 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
25 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
26 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
27 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
28 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
29 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
30 Combined Therapy of Malignant Salivary Gland Tumours With IMRT and Carbon Ions: COSMIC Unknown status NCT01154270 Phase 2
31 Treatment of Malignant Sinonasal Tumours With Intensity-modulated Radiotherapy (IMRT) and Carbon Ion Boost (C12) Unknown status NCT01220752 Phase 2
32 Differentiated Resistance Training of the Paravertebral Muscles in Patients With Unstable Spinal Bone Metastasis Under Concomitant Radiotherapy Unknown status NCT02847754 Phase 2
33 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®)
34 Randomised Placebo Controlled Trial of Faecal Microbiota Transplantation in Irritable Bowel Syndrome Unknown status NCT02423421 Phase 2
35 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
36 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
37 Patient Education After Lung Transplantation Via Tablet Computers Versus Conventional Education - a Randomized Open Controlled Trial Completed NCT01398488 Phase 2
38 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
39 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
40 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
41 Isometric Muscle Training of the Spine Musculature in Patients With Spinal Bony Metastases Under Radiation Therapy Completed NCT01409720 Phase 2
42 Immunoglobulin for Necrotizing Soft Tissue Infections: a Randomised Controlled Trial Completed NCT02111161 Phase 2 IVIG (Privigen);Saline 0.9%
43 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
44 A Study of the Effectiveness of Local S26E Extract Application for Diabetic Foot Ulcer Healing Recruiting NCT04186377 Phase 2 S26E
45 Phase Ib/IIa Study of Palbociclib in MLL-rearranged Acute Leukemias AMLSG 23-14/Palbo-AL-1 Recruiting NCT02310243 Phase 1, Phase 2 Palbociclib
46 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
47 Intravenous Iron Supplement for Iron Deficiency in Patients With Severe Aortic Stenosis: The IIISAS Trial Recruiting NCT04206228 Phase 2 Intravenous iron isomaltoside;Placebo
48 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
49 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Active, not recruiting NCT02485899 Phase 1, Phase 2
50 A Roll-over Study to Provide Continued Treatment With Rogaratinib in Participants Who Were Enrolled in Rogaratinib Studies Enrolling by invitation NCT04125693 Phase 2 Rogaratinib (BAY1163877);Combination drug

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 1

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 1

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 1:

# Genetic test Affiliating Genes
1 Neuronal Ceroid Lipofuscinosis 1 29 PPT1
2 Infantile Neuronal Ceroid Lipofuscinosis 29

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 1

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

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

Publications for Ceroid Lipofuscinosis, Neuronal, 1

Articles related to Ceroid Lipofuscinosis, Neuronal, 1:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. 54 56 6
11506414 2001
2
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. 54 56 6
10416973 1999
3
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 6 56 54
9664077 1998
4
The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. 6 56
25205113 2015
5
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. 56 6
17261688 2007
6
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. 6 56
9425237 1998
7
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. 56 6
7637805 1995
8
Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice. 54 56
18704195 2008
9
Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL. 54 56
16571600 2006
10
Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL. 56 54
16368712 2006
11
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants. 54 56
10874636 1999
12
A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. 54 6
9571187 1998
13
Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. 56 54
8325646 1993
14
Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients. 56 61
4698309 1973
15
Neuronal ceroid lipofuscinoses. 6
19084560 2009
16
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 56
15965709 2005
17
Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. 56
11717424 2001
18
Neuronal Ceroid-Lipofuscinoses – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301601 2001
19
Batten's disease: eight genes and still counting? 56
10465165 1999
20
Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL. 56
9535296 1998
21
MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients. 56
8576553 1995
22
The neuronal ceroid-lipofuscinoses. 56
8576551 1995
23
New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy. 56
7668322 1995
24
Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD). 56
7668323 1995
25
Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus. 56
7789974 1995
26
Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus. 56
2071142 1991
27
Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. 56
1672288 1991
28
Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses. 56
2249855 1990
29
Santavuori disease: diagnosis by leukocyte ultrastructure. 56
6890163 1982
30
Clinical, morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis. 56
510322 1979
31
Infantile type of so-called neuronal ceroid-lipofuscinosis. 56
4371326 1974
32
Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies. 56
4121459 1973
33
Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy? 56
5346636 1969
34
Late infantile progressive encephalopathy with disturbed poly-unsaturated fat metabolism. 56
5706364 1968
35
Suppression of agrin-22 production and synaptic dysfunction in Cln1 (-/-) mice. 61
26734660 2015
36
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. 61
26275418 2015
37
Structural basis of neuronal ceroid lipofuscinosis 1. 61
19793631 2010
38
Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis. 54
20036592 2010
39
Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis. 54
19733542 2009
40
RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis. 54
18948101 2008
41
A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera. 54
17990914 2008
42
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 54
17565660 2007
43
Production of lysophosphatidylcholine by cPLA2 in the brain of mice lacking PPT1 is a signal for phagocyte infiltration. 54
17341491 2007
44
[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis]. 54
17044973 2006
45
Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL. 54
16644870 2006
46
Overexpression in colorectal carcinoma of two lysosomal enzymes, CLN2 and CLN1, involved in neuronal ceroid lipofuscinosis. 61
16518810 2006
47
CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis. 54
16364693 2006
48
Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: implications for treatment of infantile neuronal ceroid lipofuscinosis. 54
16601878 2006
49
Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice. 61
16242638 2005
50
Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). 54
15464427 2004

Variations for Ceroid Lipofuscinosis, Neuronal, 1

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

6 (show top 50) (show all 228) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PPT1 NM_000310.3(PPT1):c.629_630dup (p.Ile211fs)duplication Pathogenic 662960 1:40544327-40544328 1:40078655-40078656
2 PPT1 NM_001142604.2(PPT1):c.125-2560_125-2559deldeletion Pathogenic 649994 1:40557743-40557744 1:40092071-40092072
3 PPT1 NM_000310.4(PPT1):c.6del (p.Ser3fs)deletion Pathogenic 664850 1:40562905-40562905 1:40097233-40097233
4 PPT1 NC_000001.10:g.40558255_40562842deldeletion Pathogenic 666429 1:40558255-40562842
5 PPT1 NC_000001.11:g.(?_40089400)_(40097248_?)deldeletion Pathogenic 831860 1:40555072-40562920
6 PPT1 NM_000310.4(PPT1):c.289_290del (p.Gln97fs)deletion Pathogenic 856480 1:40557789-40557790 1:40092117-40092118
7 PPT1 NM_000310.4(PPT1):c.102del (p.Leu35fs)deletion Pathogenic 835915 1:40562809-40562809 1:40097137-40097137
8 PPT1 NM_000310.4(PPT1):c.124+1215_235-103deldeletion Pathogenic 846185 1:40557947-40561572 1:40092275-40095900
9 PPT1 PPT1, 451C-TSNV Pathogenic 8906
10 PPT1 NM_001142604.2(PPT1):c.125-2573G>CSNV Pathogenic 8907 rs137852701 1:40557757-40557757 1:40092085-40092085
11 PPT1 PPT1, 1-BP INS, 169Ainsertion Pathogenic 8905
12 PPT1 NM_000310.3(PPT1):c.364A>T (p.Arg122Trp)SNV Pathogenic 8899 rs137852695 1:40557070-40557070 1:40091398-40091398
13 PPT1 NM_000310.3(PPT1):c.223A>C (p.Thr75Pro)SNV Pathogenic 8900 rs137852696 1:40558081-40558081 1:40092409-40092409
14 PPT1 NM_001142604.2(PPT1):c.125-2659A>GSNV Pathogenic 8901 rs137852697 1:40557843-40557843 1:40092171-40092171
15 PPT1 NM_000310.3(PPT1):c.656T>A (p.Leu219Gln)SNV Pathogenic 8902 rs137852698 1:40544302-40544302 1:40078630-40078630
16 PPT1 NM_001142604.2(PPT1):c.125-2986G>ASNV Pathogenic 8908 rs137852702 1:40558170-40558170 1:40092498-40092498
17 PPT1 NM_001142604.2(PPT1):c.125-2945deldeletion Pathogenic 56183 rs386833635 1:40558129-40558129 1:40092457-40092457
18 PPT1 NM_000310.3(PPT1):c.529C>G (p.Gln177Glu)SNV Pathogenic 56198 rs386833650 1:40555089-40555089 1:40089417-40089417
19 PPT1 NM_000310.3(PPT1):c.362+5G>ASNV Pathogenic 206643 rs796052924 1:40557712-40557712 1:40092040-40092040
20 PPT1 NM_000310.3(PPT1):c.455del (p.Cys152fs)deletion Pathogenic 280344 rs886041568 1:40555163-40555163 1:40089491-40089491
21 PPT1 NM_000310.3(PPT1):c.2T>C (p.Met1Thr)SNV Pathogenic/Likely pathogenic 206651 rs796052927 1:40562909-40562909 1:40097237-40097237
22 PPT1 NM_000310.3(PPT1):c.424C>T (p.Gln142Ter)SNV Pathogenic/Likely pathogenic 206645 rs796052925 1:40557010-40557010 1:40091338-40091338
23 PPT1 NM_000310.3(PPT1):c.536+1G>ASNV Pathogenic/Likely pathogenic 56199 rs386833651 1:40555081-40555081 1:40089409-40089409
24 PPT1 NM_000310.3(PPT1):c.3G>A (p.Met1Ile)SNV Pathogenic/Likely pathogenic 56193 rs386833645 1:40562908-40562908 1:40097236-40097236
25 PPT1 NM_001142604.2(PPT1):c.181C>T (p.Arg61Ter)SNV Pathogenic/Likely pathogenic 56197 rs386833649 1:40555128-40555128 1:40089456-40089456
26 PPT1 NM_000310.3(PPT1):c.541G>T (p.Val181Leu)SNV Pathogenic/Likely pathogenic 56202 rs148412181 1:40546155-40546155 1:40080483-40080483
27 PPT1 NM_000310.3(PPT1):c.550G>A (p.Glu184Lys)SNV Pathogenic/Likely pathogenic 56204 rs386833655 1:40546146-40546146 1:40080474-40080474
28 PPT1 NM_000310.3(PPT1):c.727-2A>TSNV Pathogenic/Likely pathogenic 56213 rs386833664 1:40542587-40542587 1:40076915-40076915
29 PPT1 NM_000310.3(PPT1):c.628-1G>TSNV Pathogenic/Likely pathogenic 56208 rs386833659 1:40544331-40544331 1:40078659-40078659
30 PPT1 NM_000310.3(PPT1):c.541G>A (p.Val181Met)SNV Pathogenic/Likely pathogenic 188857 rs148412181 1:40546155-40546155 1:40080483-40080483
31 PPT1 NM_000310.3(PPT1):c.169dup (p.Met57fs)duplication Pathogenic/Likely pathogenic 56182 rs386833634 1:40558134-40558135 1:40092462-40092463
32 PPT1 NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp)SNV Pathogenic/Likely pathogenic 56190 rs386833642 1:40557754-40557754 1:40092082-40092082
33 PPT1 NM_000310.3(PPT1):c.29T>A (p.Leu10Ter)SNV Pathogenic/Likely pathogenic 8903 rs137852699 1:40562882-40562882 1:40097210-40097210
34 PPT1 NM_000310.3(PPT1):c.451C>T (p.Arg151Ter)SNV Pathogenic/Likely pathogenic 8904 rs137852700 1:40555167-40555167 1:40089495-40089495
35 PPT1 NM_000310.3(PPT1):c.363-3T>GSNV Likely pathogenic 56191 rs386833643 1:40557074-40557074 1:40091402-40091402
36 PPT1 NM_001142604.2(PPT1):c.125-1852deldeletion Likely pathogenic 56192 rs386833644 1:40557036-40557036 1:40091364-40091364
37 PPT1 NM_000310.4(PPT1):c.471del (p.His158fs)deletion Likely pathogenic 666356 1:40555147-40555147 1:40089475-40089475
38 PPT1 NM_000310.3(PPT1):c.235-3T>CSNV Likely pathogenic 56184 rs386833636 1:40557847-40557847 1:40092175-40092175
39 PPT1 NM_001142604.2(PPT1):c.125-2646CTT[2]short repeat Likely pathogenic 56185 rs386833637 1:40557822-40557824 1:40092150-40092152
40 PPT1 NM_000310.4(PPT1):c.271_287delinsTT (p.Gln91_Cys96delinsPhe)indel Likely pathogenic 56186 rs386833638 1:40557792-40557808 1:40092120-40092136
41 PPT1 NM_000310.3(PPT1):c.*526_*529deldeletion Likely pathogenic 56142 rs386833624 1:40539204-40539207 1:40073532-40073535
42 PPT1 NM_000310.3(PPT1):c.114G>A (p.Trp38Ter)SNV Likely pathogenic 56143 rs386833626 1:40562797-40562797 1:40097125-40097125
43 PPT1 NM_000310.3(PPT1):c.114G>T (p.Trp38Cys)SNV Likely pathogenic 56144 rs386833626 1:40562797-40562797 1:40097125-40097125
44 PPT1 NM_000310.3(PPT1):c.114del (p.Trp38fs)deletion Likely pathogenic 56174 rs386833625 1:40562797-40562797 1:40097125-40097125
45 PPT1 NM_000310.3(PPT1):c.117T>A (p.His39Gln)SNV Likely pathogenic 56175 rs386833627 1:40562794-40562794 1:40097122-40097122
46 PPT1 NM_000310.3(PPT1):c.124+1G>ASNV Likely pathogenic 56176 rs386833628 1:40562786-40562786 1:40097114-40097114
47 PPT1 NM_000310.3(PPT1):c.125-15T>GSNV Likely pathogenic 56177 rs386833629 1:40558194-40558194 1:40092522-40092522
48 PPT1 NM_000310.3(PPT1):c.125-2A>GSNV Likely pathogenic 56178 rs386833630 1:40558181-40558181 1:40092509-40092509
49 PPT1 NM_000310.3(PPT1):c.125G>A (p.Gly42Glu)SNV Likely pathogenic 56179 rs386833631 1:40558179-40558179 1:40092507-40092507
50 PPT1 NM_001142604.2(PPT1):c.125-2985_125-2983dupduplication Likely pathogenic 56180 rs386833632 1:40558166-40558167 1:40092494-40092495

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

73 (show all 23)
# Symbol AA change Variation ID SNP ID
1 PPT1 p.His39Gln VAR_005548 rs386833627
2 PPT1 p.Gly42Glu VAR_005549 rs386833631
3 PPT1 p.Thr75Pro VAR_005550 rs137852696
4 PPT1 p.Asp79Gly VAR_005551 rs137852697
5 PPT1 p.Tyr109Asp VAR_005552 rs386833642
6 PPT1 p.Arg122Trp VAR_005553 rs137852695
7 PPT1 p.Gln177Glu VAR_005555 rs386833650
8 PPT1 p.Val181Leu VAR_005556 rs148412181
9 PPT1 p.Val181Met VAR_005557 rs148412181
10 PPT1 p.Leu219Gln VAR_005558 rs137852698
11 PPT1 p.Tyr247His VAR_005559 rs386833665
12 PPT1 p.Gly250Val VAR_005560 rs386833666
13 PPT1 p.Gly108Arg VAR_018511 rs137852701
14 PPT1 p.Trp38Cys VAR_058434 rs386833626
15 PPT1 p.Cys45Tyr VAR_066874 rs137852702
16 PPT1 p.Ser138Leu VAR_066875 rs386833646
17 PPT1 p.Cys152Tyr VAR_066876 rs386833647
18 PPT1 p.His187Arg VAR_066877 rs386833657
19 PPT1 p.Pro189Arg VAR_066878 rs386833658
20 PPT1 p.Leu222Pro VAR_066879 rs386833661
21 PPT1 p.Val228Gly VAR_066880 rs386833663
22 PPT1 p.Trp296Arg VAR_066881 rs386833669
23 PPT1 p.Leu305Pro VAR_066882 rs386833671

Expression for Ceroid Lipofuscinosis, Neuronal, 1

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

Pathways for Ceroid Lipofuscinosis, Neuronal, 1

Pathways related to Ceroid Lipofuscinosis, Neuronal, 1 according to KEGG:

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

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

# Super pathways Score Top Affiliating Genes
1 11.33 TPP1 PPT2 PPT1 MFSD8 CTSF CTSD

GO Terms for Ceroid Lipofuscinosis, Neuronal, 1

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

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.87 SRF PPT1 KCTD7 CLN6 CLN5 CLN3
2 membrane raft GO:0045121 9.65 TPP1 PPT1 CTSD CLN6 CLN3
3 lysosomal membrane GO:0005765 9.63 MFSD8 DNAJC5 CTSD CLN5 CLN3 ATP13A2
4 synaptic vesicle GO:0008021 9.58 PPT1 DNAJC5 CLN3
5 melanosome GO:0042470 9.54 TPP1 DNAJC5 CTSD
6 lysosomal lumen GO:0043202 9.43 TPP1 PPT2 PPT1 CTSF CTSD ATP13A2
7 lysosome GO:0005764 9.28 TPP1 PPT2 PPT1 MFSD8 CTSF CTSD

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.7 PPT1 DNAJC5 CLN3
2 neuron development GO:0048666 9.63 SRF PPT1 MFSD8
3 negative regulation of proteolysis GO:0045861 9.51 CLN8 CLN3
4 associative learning GO:0008306 9.5 SRF PPT1 CLN3
5 megakaryocyte development GO:0035855 9.49 SRF FLI1
6 fatty-acyl-CoA biosynthetic process GO:0046949 9.48 PPT2 PPT1
7 lysosomal lumen acidification GO:0007042 9.46 PPT1 CLN6 CLN5 CLN3
8 positive regulation of pinocytosis GO:0048549 9.43 PPT1 CLN3
9 protein catabolic process GO:0030163 9.43 TPP1 PPT1 CTSD CLN8 CLN6 CLN5
10 regulation of lysosomal protein catabolic process GO:1905165 9.4 MFSD8 ATP13A2
11 autophagosome-lysosome fusion GO:0061909 9.37 CLN3 ATP13A2
12 cellular macromolecule catabolic process GO:0044265 9.26 PPT1 CLN6
13 lysosome organization GO:0007040 9.1 TPP1 PPT1 MFSD8 CLN6 CLN5 CLN3

Molecular functions related to Ceroid Lipofuscinosis, Neuronal, 1 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 for Ceroid Lipofuscinosis, Neuronal, 1

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
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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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