CLN5
MCID: CRD184
MIFTS: 59

Ceroid Lipofuscinosis, Neuronal, 5 (CLN5)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 5

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 5:

Name: Ceroid Lipofuscinosis, Neuronal, 5 57 73 71
Neuronal Ceroid Lipofuscinosis 5 11 19 42 28 5 14
Cln5 57 11 19 73 75
Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis 42 73
Cln5 Disease 42 58
Vlincl 42 73
Neuronal Ceroid Lipofuscinosis 5 with Variable Age at Onset 73
Ceroid Lipofuscinosis, Neuronal, 5, Variable Age at Onset 57
Neuronal Ceroid Lipofuscinosis 5 Variable Age of Onset 11
Neuronal Ceroid Lipofuscinosis Finnish Variant 19
Neuronal Ceroid Lipofuscinosis, Late-Infantile 42
Late-Infantile Neuronal Ceroid Lipofuscinosis 42
Late-Infantile Neuronal Ceroid Lipfuscinosis 71
Lipofuscinosis, Ceroid, Neuronal, Type 5 38
Ceroid Lipofuscinosis, Neuronal, 6 71
Cln5 Disease, Late Infantile 19
Jansky-Bielschowsky Disease 42
Cln5 Disease, Juvenile 19
Cln5 Disease, Adult 19
Finnish Vlincl 42
Finnish 73

Characteristics:


Inheritance:

Ceroid Lipofuscinosis, Neuronal, 5: Autosomal recessive 57
Cln5 Disease: Autosomal recessive 58

Age Of Onset:

Cln5 Disease: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset at 4 to 7 years
later onset can also occur (up to age 17 years)
death at 13 to 30 years
one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015)


Classifications:

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


Summaries for Ceroid Lipofuscinosis, Neuronal, 5

MedlinePlus Genetics: 42 CLN5 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition can begin anytime between childhood and early adulthood, but they typically appear around age 5. Children with CLN5 disease often have normal development until they experience the first signs of the condition, which are usually problems with movement that might seem like clumsiness, and a loss of previously acquired motor skills (developmental regression). Other features of the condition include recurrent seizures that involve uncontrollable muscle jerks (myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, speech problems, and a decline in intellectual function. The life expectancy of people with CLN5 disease varies; affected individuals usually survive into adolescence or mid-adulthood.CLN5 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, 5, also known as neuronal ceroid lipofuscinosis 5, is related to early myoclonic encephalopathy and progressive myoclonus epilepsy, and has symptoms including ataxia, myoclonus and clumsiness. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 5 is CLN5 (CLN5 Intracellular Trafficking Protein). The drugs Paclitaxel and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and prostate, and related phenotypes are visual impairment and abnormality of visual evoked potentials

OMIM®: 57 The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (256731) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A form of neuronal ceroid lipofuscinosis. 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 patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.

GARD: 19 Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes in the CLN5 gene and is inherited in an autosomal recessive manner.

Disease Ontology: 11 A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has material basis in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.

Wikipedia: 75 Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5... more...

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 5

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 4 Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 6b Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 6a
Ceroid Lipofuscinosis, Neuronal, 9 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 7 Ceroid Lipofuscinosis, Neuronal, 11
Ceroid Lipofuscinosis, Neuronal, 13 Adult Neuronal Ceroid Lipofuscinosis

Diseases related to Ceroid Lipofuscinosis, Neuronal, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1498)
# Related Disease Score Top Affiliating Genes
1 early myoclonic encephalopathy 30.9 STXBP1 CLN5
2 progressive myoclonus epilepsy 30.8 STXBP1 CLN5
3 ceroid lipofuscinosis, neuronal, 2 12.0
4 amyloidosis, finnish type 11.7
5 nephrotic syndrome, type 1 11.7
6 gracile syndrome 11.5
7 ceroid lipofuscinosis, neuronal, 6a 11.4
8 salla disease 11.4
9 free sialic acid storage disorders 11.4
10 diarrhea 1, secretory chloride, congenital 11.3
11 lethal congenital contracture syndrome 1 11.2
12 sialuria 11.2
13 myopathy, distal, 3 11.2
14 epilepsy 11.1
15 tibial muscular dystrophy 11.1
16 nephrotic syndrome 11.1
17 familial nephrotic syndrome 11.1
18 mitochondrial dna depletion syndrome 7 11.0
19 imerslund-grasbeck syndrome 1 11.0
20 fundus dystrophy, pseudoinflammatory, recessive form 11.0
21 lethal congenital contracture syndrome 11.0
22 lattice corneal dystrophy 10.9
23 amyloidosis, hereditary, transthyretin-related 10.9
24 ceroid lipofuscinosis, neuronal, 10 10.9
25 cartilage-hair hypoplasia 10.9
26 congenital chloride diarrhea 10.9
27 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.9
28 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 10.9
29 hantavirus hemorrhagic fever with renal syndrome 10.9
30 hemorrhagic fever-renal syndrome 10.9
31 infantile sialic acid storage disease 10.9
32 ceroid lipofuscinosis, neuronal, 13 10.9
33 fundus dystrophy 10.9
34 bone dysplasia, lethal, holmgren type 10.9
35 spinal muscular atrophy, jokela type 10.9
36 mucopolysaccharidosis, type iiia 10.9
37 myoclonic epilepsy of lafora 10.9
38 niemann-pick disease, type c1 10.9
39 tay-sachs disease 10.9
40 waardenburg syndrome, type 4a 10.9
41 spinocerebellar ataxia, autosomal recessive 7 10.9
42 ceroid lipofuscinosis, neuronal, 11 10.9
43 progressive myoclonus epilepsy 3 10.9
44 visual epilepsy 10.9
45 mucopolysaccharidosis iii 10.9
46 unverricht-lundborg syndrome 10.9
47 lipid storage disease 10.9
48 diabetes mellitus 10.6
49 prediabetes syndrome 10.5
50 type 1 diabetes mellitus 10.5

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 5:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 5

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 5

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 5:

58 30 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000505
2 abnormality of visual evoked potentials 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000649
3 inability to walk 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002540
4 corpus callosum atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007371
5 spasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001257
6 hyperreflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001347
7 sleep disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0002360
8 nystagmus 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0000639
9 cerebral cortical atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0002120
10 dysmetria 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0001310
11 mental deterioration 58 30 Frequent (33%) Frequent (79-30%)
HP:0001268
12 dysdiadochokinesis 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0002075
13 cerebellar atrophy 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0001272
14 aggressive behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0000718
15 hyperactivity 58 30 Frequent (33%) Frequent (79-30%)
HP:0000752
16 unsteady gait 58 30 Frequent (33%) Frequent (79-30%)
HP:0002317
17 clumsiness 58 30 Frequent (33%) Frequent (79-30%)
HP:0002312
18 generalized-onset seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002197
19 postural instability 58 30 Frequent (33%) Frequent (79-30%)
HP:0002172
20 multifocal epileptiform discharges 58 30 Frequent (33%) Frequent (79-30%)
HP:0010841
21 truncal ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002078
22 language impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002463
23 eeg with spike-wave complexes 58 30 Frequent (33%) Frequent (79-30%)
HP:0010850
24 eeg with generalized slow activity 58 30 Frequent (33%) Frequent (79-30%)
HP:0010845
25 poor gross motor coordination 58 30 Frequent (33%) Frequent (79-30%)
HP:0007015
26 eeg with focal spikes 58 30 Frequent (33%) Frequent (79-30%)
HP:0011193
27 periventricular white matter hyperintensities 30 Frequent (33%) HP:0030891
28 focal myoclonic seizure 30 Frequent (33%) HP:0011166
29 tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001337
30 hallucinations 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000738
31 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000739
32 autistic behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000729
33 obsessive-compulsive trait 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008770
34 dysarthria 30 Occasional (7.5%) HP:0001260
35 seizure 58 30 Very frequent (99-80%)
HP:0001250
36 ataxia 58 30 Frequent (79-30%)
HP:0001251
37 intellectual disability 30 HP:0001249
38 developmental regression 30 HP:0002376
39 behavioral abnormality 58 Very frequent (99-80%)
40 progressive visual loss 30 HP:0000529
41 myoclonus 30 HP:0001336
42 motor deterioration 30 HP:0002333
43 retinal degeneration 30 HP:0000546
44 focal-onset seizure 58 Very frequent (99-80%)
45 abnormality of central motor function 58 Frequent (79-30%)
46 focal myoclonic seizures 58 Frequent (79-30%)
47 periventricular white matter hyperdensities 58 Frequent (79-30%)
48 atrophy/degeneration affecting the central nervous system 58 Very frequent (99-80%)
49 increased neuronal autofluorescent lipopigment 30 HP:0002074
50 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 30 HP:0003208

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
ataxia
developmental regression
myoclonus
motor deterioration
clumsiness
more
Laboratory Abnormalities:
'fingerprint' profiles ultrastructurally
'curvilinear' profiles ultrastructurally
'rectilinear' profiles ultrastructurally

Head And Neck Eyes:
retinal degeneration
vision loss, progressive
nystagmus (1 family)

Neurologic Behavioral Psychiatric Manifestations:
concentration difficulties

Clinical features from OMIM®:

256731 (Updated 08-Dec-2022)

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 5:


ataxia; myoclonus; clumsiness; seizures

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 5

Drugs for Ceroid Lipofuscinosis, Neuronal, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
2 Vaccines Phase 3
3 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
4 Immunologic Factors Phase 3
5 Albumin-Bound Paclitaxel Phase 3
6
Entrectinib Approved, Investigational Phase 2 1108743-60-7 25141092
7
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
8
Trametinib Approved Phase 2 871700-17-3 11707110
9
Pralsetinib Approved, Investigational Phase 2 2097132-94-8 129073603
10
Vemurafenib Approved Phase 2 918504-65-1 42611257
11
Pertuzumab Approved Phase 2 380610-27-5
12
Trastuzumab Approved, Investigational Phase 2 180288-69-1
13
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760
14 Antineoplastic Agents, Immunological Phase 2
15 Protein Kinase Inhibitors Phase 2
16
Caffeine Approved 58-08-2 2519
17
Ethanol Approved 64-17-5 702
18
Warfarin Approved 81-81-2, 129-06-6 54678486
19
Infliximab Approved 170277-31-3
20
Adalimumab Approved, Experimental 331731-18-1
21
Vedolizumab Approved 943609-66-3
22
Ustekinumab Approved, Investigational 815610-63-0
23
Golimumab Approved 476181-74-5
24
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
25
Polyestradiol phosphate Approved 28014-46-2
26
Norethisterone Approved 68-22-4 199472 6230
27
Clodronic acid Approved, Investigational, Vet_approved 10596-23-3 25419
28
Nicotine Approved 54-11-5 942 89594
29
Titanium dioxide Approved 13463-67-7
30
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
31
Cholecalciferol Approved, Nutraceutical, Vet_approved 67-97-0, 1406-16-2 5280795 10883523
32
Lobeline Investigational 90-69-7
33 Insulin, Globin Zinc
34
Insulin
35 Anticoagulants
36 Estrogens
37 Estradiol 3-benzoate
38 Estradiol 17 beta-cypionate
39 Hormone Antagonists
40 Contraceptives, Oral, Hormonal
41 Contraceptives, Oral
42 Contraceptive Agents
43 Trisequens
44
Norethindrone Acetate 541197
45 Antidepressive Agents
46 Acidophilus
47
Vitamin D2 3249
48 Ergocalciferols
49 Analgesics
50 Vitamins

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 Efficacy Trial in Finnish Children of Two Pneumococcal Conjugate Vaccines (PncCRM and PncOMPC) for Prevention of Acute Otitis Media Due to Pneumococcal Serotypes in the Vaccines Completed NCT00378417 Phase 3
2 Paclitaxel Eluting Stent in Long Superficial Femoral Artery Obstruction: a Prospective, Randomized Comparison With Bypass Surgery Using PTFE Graft in a Finnish Multicenter Study Recruiting NCT01450722 Phase 3
3 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
4 A Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Completed NCT02678689 Phase 2
5 Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9 Completed NCT02725580 Phase 1, Phase 2
6 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
7 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
8 A Phase 1/2 Intracerebroventricular and Intravitreal Administration of NGN-101 for Treatment of Neuronal Ceroid Lipofuscinosis (NCL) Subtype 5 (CLN5) Disease Recruiting NCT05228145 Phase 1, Phase 2
9 The Finnish National Study to Facilitate Patient Access to Targeted Anti-cancer Drugs to Determine the Efficacy in Treatment of Advanced Cancers With a Known Molecular Profile Recruiting NCT05159245 Phase 2 Alectinib;Cobimetinib;Vismodegib;Trastuzumab+Pertuzumab;Entrectinib;Atezolizumab;Vemurafenib;Regorafenib;Apalutamide;Abemaciclib;Selpercatinib;Dabrafenib;Trametinib;Dabrafenib+Trametinib;Pralsetinib
10 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
11 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
12 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
13 Pilot Study on Oral Health Status Chairside Mouthrinse Test in Finnish Adolescents and Cost Effectiveness of the Test Unknown status NCT04139863
14 Finnish Genetic Study for Arrhythmic Events Unknown status NCT02075866
15 Finnish Tennis Elbow Trial Pilot Study Unknown status NCT02425982
16 The Prevalence of Low Back Symptoms in a Finnish Forestry Company - Effectiveness of Primary Care Interventions for Non-acute Low Back Symptoms in Occupational Health. Two Separate Randomised Controlled Trials (RCT) of Various Levels. Unknown status NCT00908102
17 Finnish Telestroke Pilot 2007-2009 Unknown status NCT01136993
18 Finnish Geriatric Intervention Study to Prevent Cognitive Impairment and Disability Unknown status NCT01041989
19 Implementation of Finnish Prehospital Stroke Scale (FPSS) to Emergency Medical Services - a Prospective, Multi-centre Study Unknown status NCT03520335
20 Finnish Health and Early Life Microbiota (HELMi) Longitudinal Birth Cohort Unknown status NCT03996304
21 The Glycemic and Insulinemic Responses of the Finnish Foods: Measurement and Modification Unknown status NCT01477216
22 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT01035424
23 Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151268
24 Finnish AntiCoagulation in Atrial Fibrillation (FinACAF) Completed NCT04645537
25 Seinäjoki Adult Asthma Study: A 12-year Real-life Follow-up Study of New-onset Asthma Diagnosed at Adult Age and Treated in Primary and Specialized Care. Finnish Title: Diagnoosista Hoitotasapainoon: Voidaanko Aikuisen Astman Hoitotasapainoa Ennustaa Diagnoosivaiheen löydösten ja Astman Ilmiasun Perusteella? Completed NCT02733016
26 Groin Injuries in Finnish Contact Sports: Prospective 2-year Clinical and Magnetic Resonance Imaging Study Completed NCT02560480
27 Exposure to Remicade (Infliximab) During Pregnancy in Patients With Inflammatory Bowel Disease, Rheumatoid Arthritis, Psoriatic Arthritis, Ankylosing Spondylitis and Psoriasis: a Review and Analysis of Birth Outcomes From the Swedish, Danish and Finnish Medical Birth Registers Completed NCT00658827
28 Finnish Spinal Cord Injury Study (FinSCI) Completed NCT04649814
29 Finnish-German Prospective, Observational Follow-up Study on Risk Assessment of Mortality After Myocardial Infarction Completed NCT00828698
30 Reliability and Validity of the Finnish Version of the Prothesis Evaluation Questionnaire Completed NCT02436148
31 Combining Biological Therapies in Patients With Inflammatory Bowel Disease: a Finnish Multi-centre Study. Completed NCT05135221
32 Vitamin D Supplementation for the Prevention of Acute Respiratory Tract Infections; a Randomized Double-blinded Trial in Young Finnish Men Completed NCT00973583
33 Randomized Clinical Trial on the Effectts of Estradiol 2 mg + NETA 1 mg With or Without Clodronate on Bone Mineral Density and Bone Markers of Osteoporotic Postmenopausal 167 Finnish Women. Completed NCT00877097 Klodronate and Kliogest;Bonefos
34 A Finnish Community Randomized Psychotherapy Effectiveness Study for Major Depression Completed NCT02314767
35 Probiotic and Respiratory and Gastrointestinal Tract Infections in Finnish Military Conscripts - a Randomized and Placebo-controlled Double-blinded Study Completed NCT01651195
36 Prevalence of Memory and Attention Disorders and Malnutrition in Hospitalized Older Adults (Muistitoimintojen ja Tarkkaavaisuuden häiriöiden ja Vajaaravitsemuksen Yleisyys iäkkäillä Sairaalahoidossa Olevilla Potilailla [Finnish]) Completed NCT03252054
37 Prevention of Musculoskeletal Injuries in Finnish Conscripts. A Cluster Randomized Controlled Trial. Completed NCT00595816
38 Reliability and Validity of the Finnish Versions of the Visual Analogue Scale Foot and Ankle and the Lower Extremity Functional Scale Completed NCT02536651
39 Tobacco Use and Incidence of SARS-CoV-2 Infection in the Finnish General Population Completed NCT04915781
40 Evidence for Validity and Reliability of the Finnish Version of the Foot and Ankle Ability Measure Completed NCT02330198
41 Nationwide Finnish Registry of Transcatheter and Surgical Aortic Valve Replacement for Aortic Valve Stenosis: FinnValve Registry Completed NCT03385915
42 Finnish Trial on Practices of Anterior Cervical Decompression and Fusion (FACADE): A Protocol for a Prospective Randomized Non-inferiority Trial Comparing Outpatient vs. Inpatient Care Completed NCT03979443
43 Finnish Elective Cardioversion for Persistent Atrial Fibrillation Study Completed NCT02850679
44 Lifestyle Intervention for Toddlers at Finnish Welfare Clinics Completed NCT01204489
45 Estimation of the Minimal Important Difference and Validation of Finnish Versions of Foot and Ankle Patient-reported Outcome Instruments Completed NCT03444441
46 Finnish Vitamin D Trial (FIND) Completed NCT01463813
47 Family Welfare Pilot Intervention Study at Finnish Welfare Clinics Completed NCT01813903
48 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
49 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
50 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

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 5

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 5

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 5:

# Genetic test Affiliating Genes
1 Neuronal Ceroid Lipofuscinosis 5 28 CLN5

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 5

Organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 5:

MalaCards : Eye, Brain, Prostate, Spinal Cord, Breast, Heart, Bone
ODiseA: Brain

Publications for Ceroid Lipofuscinosis, Neuronal, 5

Articles related to Ceroid Lipofuscinosis, Neuronal, 5:

(show top 50) (show all 21189)
# Title Authors PMID Year
1
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 62 57 5
25359263 2015
2
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 62 57 5
23160995 2012
3
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. 62 57 5
20157158 2010
4
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. 62 57 5
15728307 2005
5
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 62 57 5
9662406 1998
6
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. 57 5
15349861 2004
7
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 62 5
24038957 2013
8
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 62 5
24058541 2013
9
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. 62 5
22727047 2012
10
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 62 5
22532218 2012
11
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 62 5
21990111 2012
12
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 62 5
20052765 2010
13
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 62 5
18684116 2008
14
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 62 57
15965709 2005
15
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. 62 57
15459177 2004
16
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. 62 5
12134079 2002
17
Neuronal Ceroid-Lipofuscinoses – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62 5
20301601 2001
18
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). 62 5
10953198 2000
19
Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22. 62 57
8661106 1996
20
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. 62 57
8644710 1996
21
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. 62 57
7942847 1994
22
A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16. 62 57
8020979 1994
23
Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus. 62 57
2071142 1991
24
The spectrum of Jansky-Bielschowsky disease. 62 57
1649978 1991
25
A variant of Jansky-Bielschowsky disease. 62 57
7133332 1982
26
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. 5
34906502 2022
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Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 5
31319225 2019
28
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 5
23374165 2013
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The CLN9 protein, a regulator of dihydroceramide synthase. 57
16303764 2006
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The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease. 57
193610 1977
31
Can large-scale RDI funding stimulate post-crisis recovery growth? Evidence for Finland during COVID-19. 62
36404872 2023
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Adherence to treatment guidelines and good asthma control in Finland. 62
36457457 2023
33
Changes in ambulatory blood pressure during the transition to retirement. 62
36321393 2023
34
Incidence of cataract surgeries in relation to diagnosis of Parkinson's disease. 62
36272228 2023
35
Occupational heat exposure and prostate cancer risk: A pooled analysis of case-control studies. 62
36272590 2023
36
Reminding staff of diligence during the medication process is not enough to ensure safety: Learning from wrong fluid product selection incidents in the care of critically ill patients. 62
36204010 2022
37
Twenty-year medication use trends in first-episode bipolar disorder. 62
36177718 2022
38
Human papillomavirus self-sampling with mRNA testing benefits routine screening. 62
35716139 2022
39
From high masked to high realized genetic load in inbred Scandinavian wolves. 62
36458895 2022
40
Metformin in pregnancy and risk of abnormal growth outcomes at birth: a register-based cohort study. 62
36460329 2022
41
Validation of the Nurse Managers' Work Content Questionnaire and Factors-A Structural Equation Modeling Study. 62
36301852 2022
42
Development of students' social support profiles and their association with students' study wellbeing. 62
36048099 2022
43
Recognising older people's individual resources and home-care-specific tasks in home care in Finland: A document analysis of care and service plans. 62
36464860 2022
44
Perinatal health among migrant women: A longitudinal register study in Finland 2000-17. 62
36466183 2022
45
Longitudinal perspective on cryptocurrency trading and increased gambling problems: a 3 wave national survey study. 62
36395684 2022
46
An automated bedside measure for monitoring neonatal cortical activity: a supervised deep learning-based electroencephalogram classifier with external cohort validation. 62
36427950 2022
47
Growing up unequal? Socioeconomic disparities in mental disorders throughout childhood in Finland. 62
36353094 2022
48
A multisource approach to health care use: concordance between register and self-reported physician visits in the foreign-born population in Finland. 62
36460964 2022
49
Long-term residential sunlight exposure associated with cognitive function among adults residing in Finland. 62
36460719 2022
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Contribution to validation of the Italian version of work ability personal radar. 62
36475506 2022

Variations for Ceroid Lipofuscinosis, Neuronal, 5

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 5:

5 (show top 50) (show all 186)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLN5 NM_006493.4(CLN5):c.566-42_*46del DEL Pathogenic
2571 rs1555274312 GRCh37: 13:77574551-77575150
GRCh38: 13:77000416-77001015
2 CLN5 NM_006493.4(CLN5):c.788G>A (p.Ser263Asn) SNV Pathogenic
183049 rs730882146 GRCh37: 13:77574815-77574815
GRCh38: 13:77000680-77000680
3 CLN5 NM_006493.4(CLN5):c.371del (p.Ser124fs) DEL Pathogenic
202192 rs794729218 GRCh37: 13:77570068-77570068
GRCh38: 13:76995933-76995933
4 CLN5 NM_006493.4(CLN5):c.77G>A (p.Trp26Ter) SNV Pathogenic
553399 rs764790770 GRCh37: 13:77566310-77566310
GRCh38: 13:76992175-76992175
5 CLN5 NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr) SNV Pathogenic
623394 rs1566219136 GRCh37: 13:77570128-77570128
GRCh38: 13:76995993-76995993
6 CLN5 NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs) MICROSAT Pathogenic
205148 rs796052345 GRCh37: 13:77575090-77575091
GRCh38: 13:77000955-77000956
7 CLN5 NM_006493.4(CLN5):c.187del (p.Arg63fs) DEL Pathogenic
527740 rs1555273881 GRCh37: 13:77569210-77569210
GRCh38: 13:76995075-76995075
8 CLN5 NM_006493.4(CLN5):c.83G>A (p.Trp28Ter) SNV Pathogenic
863685 rs1242337070 GRCh37: 13:77566316-77566316
GRCh38: 13:76992181-76992181
9 CLN5 NM_006493.4(CLN5):c.990G>A (p.Trp330Ter) SNV Pathogenic
1072711 GRCh37: 13:77575017-77575017
GRCh38: 13:77000882-77000882
10 CLN5 NM_006493.4(CLN5):c.924_925del (p.Leu309fs) MICROSAT Pathogenic
56526 rs386833964 GRCh37: 13:77574948-77574949
GRCh38: 13:77000813-77000814
11 CLN5 NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) DUP Pathogenic
434793 rs1555274005 GRCh37: 13:77570206-77570207
GRCh38: 13:76996071-76996072
12 CLN5 NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr) SNV Pathogenic
2569 rs267606738 GRCh37: 13:77569254-77569254
GRCh38: 13:76995119-76995119
13 CLN5 NM_006493.4(CLN5):c.112del (p.Val38fs) DEL Pathogenic
946204 rs2034190303 GRCh37: 13:77566344-77566344
GRCh38: 13:76992209-76992209
14 CLN5 NM_006493.4(CLN5):c.838G>T (p.Gly280Ter) SNV Pathogenic
968752 rs768449493 GRCh37: 13:77574865-77574865
GRCh38: 13:77000730-77000730
15 CLN5 NM_006493.4(CLN5):c.812del (p.Asn271fs) DEL Pathogenic
1073281 GRCh37: 13:77574837-77574837
GRCh38: 13:77000702-77000702
16 CLN5 NM_006493.4(CLN5):c.580C>T (p.Gln194Ter) SNV Pathogenic
1075607 GRCh37: 13:77574607-77574607
GRCh38: 13:77000472-77000472
17 CLN5 NM_006493.4(CLN5):c.936del (p.Phe312fs) DEL Pathogenic
56528 rs386833966 GRCh37: 13:77574959-77574959
GRCh38: 13:77000824-77000824
18 CLN5 NM_006493.4(CLN5):c.956_959del (p.Lys319fs) DEL Pathogenic
56529 rs386833967 GRCh37: 13:77574980-77574983
GRCh38: 13:77000845-77000848
19 CLN5 NM_006493.4(CLN5):c.965_968del (p.Tyr322fs) DEL Pathogenic
858697 rs2034349431 GRCh37: 13:77574991-77574994
GRCh38: 13:77000856-77000859
20 CLN5 NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) SNV Pathogenic
2565 rs104894385 GRCh37: 13:77566311-77566311
GRCh38: 13:76992176-76992176
21 CLN5 NM_006493.4(CLN5):c.547C>T (p.Gln183Ter) SNV Pathogenic
224505 rs869312751 GRCh37: 13:77570244-77570244
GRCh38: 13:76996109-76996109
22 CLN5 NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) SNV Pathogenic
205144 rs546989392 GRCh37: 13:77570145-77570145
GRCh38: 13:76996010-76996010
23 CLN5 NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) MICROSAT Pathogenic
2564 rs386833969 GRCh37: 13:77575053-77575054
GRCh38: 13:77000918-77000919
24 CLN5 NM_006493.4(CLN5):c.-97del DEL Pathogenic
813489 rs765323914 GRCh37: 13:77566134-77566134
GRCh38: 13:76991999-76991999
25 CLN5 NM_006493.2(CLN5):c.116C>A (p.Ser39Ter) SNV Pathogenic
205138 rs61504484 GRCh37: 13:77566202-77566202
GRCh38: 13:76992067-76992067
26 CLN5 NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) DEL Pathogenic/Likely Pathogenic
128784 rs587780315 GRCh37: 13:77570221-77570221
GRCh38: 13:76996086-76996086
27 CLN5 NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) SNV Pathogenic/Likely Pathogenic
56534 rs386833971 GRCh37: 13:77569310-77569310
GRCh38: 13:76995175-76995175
28 CLN5 NM_006493.4(CLN5):c.438del (p.His148fs) DEL Pathogenic/Likely Pathogenic
558089 rs1555273992 GRCh37: 13:77570133-77570133
GRCh38: 13:76995998-76995998
29 CLN5 NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) SNV Pathogenic/Likely Pathogenic
56536 rs386833972 GRCh37: 13:77570074-77570074
GRCh38: 13:76995939-76995939
30 CLN5 NM_006493.4(CLN5):c.522dup (p.Trp175fs) DUP Pathogenic/Likely Pathogenic
56543 rs386833979 GRCh37: 13:77570218-77570219
GRCh38: 13:76996083-76996084
31 CLN5 NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) SNV Likely Pathogenic
2570 rs148862100 GRCh37: 13:77575001-77575001
GRCh38: 13:77000866-77000866
32 CLN5 NM_006493.4(CLN5):c.981del (p.Phe327fs) DEL Likely Pathogenic
1210380 GRCh37: 13:77575005-77575005
GRCh38: 13:77000870-77000870
33 CLN5 NM_006493.4(CLN5):c.173+5G>A SNV Likely Pathogenic
952807 rs2034192763 GRCh37: 13:77566411-77566411
GRCh38: 13:76992276-76992276
34 CLN5 NM_006493.4(CLN5):c.808_823del (p.Gly270fs) DEL Likely Pathogenic
56547 rs386833983 GRCh37: 13:77574830-77574845
GRCh38: 13:77000695-77000710
35 CLN5 NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) SNV Likely Pathogenic
2566 rs28940280 GRCh37: 13:77574715-77574715
GRCh38: 13:77000580-77000580
36 CLN5 NM_006493.4(CLN5):c.705_706del (p.Leu236fs) MICROSAT Likely Pathogenic
558374 rs1555274343 GRCh37: 13:77574729-77574730
GRCh38: 13:77000594-77000595
37 CLN5 NM_006493.4(CLN5):c.713_720del (p.Thr238fs) DEL Likely Pathogenic
552578 rs1555274344 GRCh37: 13:77574740-77574747
GRCh38: 13:77000605-77000612
38 CLN5 NM_006493.4(CLN5):c.838_841del (p.Gly280fs) DEL Likely Pathogenic
555601 rs1555274365 GRCh37: 13:77574864-77574867
GRCh38: 13:77000729-77000732
39 CLN5 NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) SNV Likely Pathogenic
56533 rs104894386 GRCh37: 13:77569212-77569212
GRCh38: 13:76995077-76995077
40 CLN5 NM_006493.4(CLN5):c.339+5G>C SNV Likely Pathogenic
56535 rs202146713 GRCh37: 13:77569368-77569368
GRCh38: 13:76995233-76995233
41 CLN5 NM_006493.4(CLN5):c.84G>A (p.Trp28Ter) SNV Likely Pathogenic
451600 rs200348035 GRCh37: 13:77566317-77566317
GRCh38: 13:76992182-76992182
42 CLN5 NM_006493.4(CLN5):c.777_778del (p.Phe260fs) MICROSAT Likely Pathogenic
189038 rs786204644 GRCh37: 13:77574802-77574803
GRCh38: 13:77000667-77000668
43 CLN5 NM_006493.4(CLN5):c.338T>A (p.Leu113Ter) SNV Likely Pathogenic
1724110 GRCh37: 13:77569362-77569362
GRCh38: 13:76995227-76995227
44 CLN5 NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) SNV Likely Pathogenic
56530 rs386833968 GRCh37: 13:77575017-77575017
GRCh38: 13:77000882-77000882
45 CLN5 NM_006493.4(CLN5):c.675G>A (p.Trp225Ter) SNV Likely Pathogenic
522601 rs1555274338 GRCh37: 13:77574702-77574702
GRCh38: 13:77000567-77000567
46 CLN5 NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) SNV Likely Pathogenic
56544 rs386833980 GRCh37: 13:77570221-77570221
GRCh38: 13:76996086-76996086
47 CLN5 NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) SNV Likely Pathogenic
56541 rs386833977 GRCh37: 13:77570163-77570163
GRCh38: 13:76996028-76996028
48 CLN5 NM_006493.4(CLN5):c.174-2A>G SNV Likely Pathogenic
929174 rs2034241585 GRCh37: 13:77569196-77569196
GRCh38: 13:76995061-76995061
49 CLN5 NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer) DEL Likely Pathogenic
558456 rs1555274373 GRCh37: 13:77574943-77574943
GRCh38: 13:77000808-77000808
50 CLN5 NM_006493.4(CLN5):c.191del (p.Pro64fs) DEL Likely Pathogenic
558491 rs1555273882 GRCh37: 13:77569214-77569214
GRCh38: 13:76995079-76995079

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 5:

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 CLN5 p.Asp230Asn VAR_005137 rs28940280
2 CLN5 p.Arg63His VAR_042700 rs104894386
3 CLN5 p.Tyr209Asp VAR_042701 rs386833981
4 CLN5 p.Arg63Pro VAR_042702 rs104894386
5 CLN5 p.Trp330Cys VAR_059032 rs386833968
6 CLN5 p.Cys77Tyr VAR_066896 rs267606738
7 CLN5 p.Asn143Ser VAR_066897 rs386833975
8 CLN5 p.Leu149Pro VAR_066898 rs386833976
9 CLN5 p.Pro156Ser VAR_066899 rs386833977
10 CLN5 p.Trp158Arg VAR_066900 rs147065248
11 CLN5 p.Trp158Ser VAR_066901 rs386833978
12 CLN5 p.Tyr325Cys VAR_066903 rs148862100

Expression for Ceroid Lipofuscinosis, Neuronal, 5

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 5.

Pathways for Ceroid Lipofuscinosis, Neuronal, 5

GO Terms for Ceroid Lipofuscinosis, Neuronal, 5

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