CLN5
MCID: CRD184
MIFTS: 54

Ceroid Lipofuscinosis, Neuronal, 5 (CLN5)

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 5

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 5:

Name: Ceroid Lipofuscinosis, Neuronal, 5 57 72 13 70
Neuronal Ceroid Lipofuscinosis 5 12 20 43 29 6 15
Cln5 57 12 20 72
Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis 43 72
Cln5 Disease 43 58
Vlincl 43 72
Neuronal Ceroid Lipofuscinosis 5 with Variable Age at Onset 72
Ceroid Lipofuscinosis, Neuronal, 5, Variable Age at Onset 57
Neuronal Ceroid Lipofuscinosis 5 Variable Age of Onset 12
Neuronal Ceroid Lipofuscinosis Finnish Variant 20
Neuronal Ceroid Lipofuscinosis, Late-Infantile 43
Late-Infantile Neuronal Ceroid Lipofuscinosis 43
Late-Infantile Neuronal Ceroid Lipfuscinosis 70
Lipofuscinosis, Ceroid, Neuronal, Type 5 39
Ceroid Lipofuscinosis, Neuronal, 6 70
Cln5 Disease, Late Infantile 20
Jansky-Bielschowsky Disease 43
Cln5 Disease, Juvenile 20
Cln5 Disease, Adult 20
Finnish Vlincl 43
Finnish 72

Characteristics:

Orphanet epidemiological data:

58
cln5 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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)


HPO:

31
ceroid lipofuscinosis, neuronal, 5:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110728
OMIM® 57 256731
OMIM Phenotypic Series 57 PS256730
MeSH 44 D009472
ICD10 32 E75.4
ICD10 via Orphanet 33 E75.4
UMLS via Orphanet 71 C1850442
Orphanet 58 ORPHA228360
MedGen 41 C1850442
UMLS 70 C0022340 C1850442 C1866282

Summaries for Ceroid Lipofuscinosis, Neuronal, 5

MedlinePlus Genetics : 43 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 neuronal ceroid-lipofuscinoses and von willebrand's disease, and has symptoms including seizures, ataxia and myoclonus. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 5 is CLN5 (CLN5 Intracellular Trafficking Protein), and among its related pathways/superpathways is Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. The drugs Paclitaxel and Acidophilus have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and liver, and related phenotypes are nystagmus and dysmetria

Disease Ontology : 12 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.

GARD : 20 Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. 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 ( mutations ) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.

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 20-May-2021)

UniProtKB/Swiss-Prot : 72 Ceroid lipofuscinosis, neuronal, 5: 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.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 5

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, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1265)
# Related Disease Score Top Affiliating Genes
1 neuronal ceroid-lipofuscinoses 30.4 FBXL3 CLN5
2 von willebrand's disease 29.4 VWF F7
3 intermediate coronary syndrome 29.4 VWF P2RY12
4 factor xiii deficiency 29.3 VWF F7
5 peripheral artery disease 29.2 VWF P2RY12
6 coronary thrombosis 29.2 VWF P2RY12
7 stroke, ischemic 29.2 VWF P2RY12 F7
8 carotid stenosis 29.1 VWF F7
9 hemophilia a 29.0 VWF F7
10 hemophilia b 29.0 VWF F7
11 factor viii deficiency 28.9 VWF F7
12 bernard-soulier syndrome 28.8 VWF P2RY12 F7
13 thrombosis 28.5 VWF P2RY12 F7
14 cardiovascular system disease 28.4 VWF P2RY12 F7
15 ceroid lipofuscinosis, neuronal, 2 12.0
16 amyloidosis, finnish type 11.6
17 congenital nephrotic syndrome finnish type 11.6
18 gracile syndrome 11.5
19 familial amyloidosis, finnish type 11.5
20 ceroid lipofuscinosis, neuronal, 6 11.4
21 salla disease 11.4
22 nephrotic syndrome, type 1 11.4
23 diarrhea 1, secretory chloride, congenital 11.2
24 ceroid lipofuscinosis, neuronal, 1 11.2
25 lethal congenital contracture syndrome 1 11.2
26 sialuria 11.2
27 epilepsy 11.1
28 lattice corneal dystrophy type ii 11.1
29 lysosomal storage disease 11.0
30 nephrotic syndrome 11.0
31 free sialic acid storage disorders 11.0
32 familial nephrotic syndrome 11.0
33 imerslund-grasbeck syndrome 1 11.0
34 fundus dystrophy, pseudoinflammatory, recessive form 11.0
35 lethal congenital contracture syndrome 11.0
36 progressive myoclonus epilepsy 11.0
37 lattice corneal dystrophy 10.9
38 epilepsy mental deterioration finnish type 10.9
39 ceroid lipofuscinosis, neuronal, 10 10.9
40 cartilage-hair hypoplasia 10.9
41 tibial muscular dystrophy 10.9
42 ceroid lipofuscinosis, neuronal, 7 10.9
43 tibial muscular dystrophy, tardive 10.9
44 ceroid lipofuscinosis, neuronal, 9 10.9
45 amyloidosis, hereditary, transthyretin-related 10.9
46 myopathy, distal, 3 10.9
47 congenital chloride diarrhea 10.9
48 rapadilino syndrome 10.9
49 hantavirus hemorrhagic fever with renal syndrome 10.9
50 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.9

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 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000639
2 dysmetria 58 31 occasional (7.5%) Frequent (79-30%) HP:0001310
3 dysdiadochokinesis 58 31 occasional (7.5%) Frequent (79-30%) HP:0002075
4 cerebellar atrophy 58 31 occasional (7.5%) Frequent (79-30%) HP:0001272
5 dysarthria 31 occasional (7.5%) HP:0001260
6 ataxia 58 31 Frequent (79-30%) HP:0001251
7 clumsiness 58 31 Frequent (79-30%) HP:0002312
8 intellectual disability 31 HP:0001249
9 seizures 58 Very frequent (99-80%)
10 spasticity 58 Frequent (79-30%)
11 hyperreflexia 58 Frequent (79-30%)
12 sleep disturbance 58 Frequent (79-30%)
13 tremor 58 Occasional (29-5%)
14 developmental regression 31 HP:0002376
15 behavioral abnormality 58 Very frequent (99-80%)
16 hallucinations 58 Occasional (29-5%)
17 visual impairment 58 Very frequent (99-80%)
18 abnormality of visual evoked potentials 58 Very frequent (99-80%)
19 progressive visual loss 31 HP:0000529
20 myoclonus 31 HP:0001336
21 motor deterioration 31 HP:0002333
22 anxiety 58 Occasional (29-5%)
23 cerebral cortical atrophy 58 Frequent (79-30%)
24 mental deterioration 58 Frequent (79-30%)
25 autistic behavior 58 Occasional (29-5%)
26 aggressive behavior 58 Frequent (79-30%)
27 hyperactivity 58 Frequent (79-30%)
28 retinal degeneration 31 HP:0000546
29 unsteady gait 58 Frequent (79-30%)
30 focal-onset seizure 58 Very frequent (99-80%)
31 generalized-onset seizure 58 Frequent (79-30%)
32 inability to walk 58 Very frequent (99-80%)
33 postural instability 58 Frequent (79-30%)
34 multifocal epileptiform discharges 58 Frequent (79-30%)
35 truncal ataxia 58 Frequent (79-30%)
36 language impairment 58 Frequent (79-30%)
37 corpus callosum atrophy 58 Very frequent (99-80%)
38 abnormality of central motor function 58 Frequent (79-30%)
39 eeg with spike-wave complexes 58 Frequent (79-30%)
40 eeg with generalized slow activity 58 Frequent (79-30%)
41 focal myoclonic seizures 58 Frequent (79-30%)
42 poor gross motor coordination 58 Frequent (79-30%)
43 periventricular white matter hyperdensities 58 Frequent (79-30%)
44 obsessive-compulsive trait 58 Occasional (29-5%)
45 eeg with focal spikes 58 Frequent (79-30%)
46 atrophy/degeneration affecting the central nervous system 58 Very frequent (99-80%)
47 seizure 31 HP:0001250
48 increased neuronal autofluorescent lipopigment 31 HP:0002074
49 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003205
50 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003208

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
ataxia
developmental regression
myoclonus
motor deterioration
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 20-May-2021)

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 5:


seizures; ataxia; myoclonus; clumsiness

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.02 CAPN1 F7 FGF4 P2RY12 SLC2A9

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 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
2 Acidophilus Phase 3
3 Vaccines Phase 3
4 Immunologic Factors Phase 3
5 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
6 Albumin-Bound Paclitaxel Phase 3
7
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
8
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
9
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
10 Antimetabolites Phase 2
11 Micronutrients Phase 2
12 Trace Elements Phase 2
13 Vasodilator Agents Phase 2
14 Vitamin B9 Phase 2
15 Vitamin B Complex Phase 2
16 Hypolipidemic Agents Phase 2
17 Vitamin B3 Phase 2
18 Folate Phase 2
19 Vitamins Phase 2
20 Nicotinic Acids Phase 2
21 Lipid Regulating Agents Phase 2
22
Ethanol Approved 64-17-5 702
23
Caffeine Approved 58-08-2 2519
24 Raspberry Approved
25 Strawberry Approved
26
Blueberry Approved
27
Polyestradiol phosphate Approved 28014-46-2
28
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
29
Clodronate Approved, Investigational, Vet_approved 10596-23-3 25419
30
Norethindrone Approved 68-22-4 6230
31
Infliximab Approved 170277-31-3
32
Warfarin Approved 81-81-2 6691 54678486
33
Titanium dioxide Approved 13463-67-7
34
Vitamin D3 Approved, Nutraceutical 67-97-0 6221 5280795
35
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
36
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
37 Black Currant
38 Lingonberry
39 Hormones
40 Contraceptive Agents
41 Estradiol 3-benzoate
42 Estradiol 17 beta-cypionate
43 Contraceptives, Oral
44 Estrogens
45 Trisequens
46 Hormone Antagonists
47 Norethindrone Acetate
48 Ergocalciferols
49 Vitamin D2
50 Calciferol

Interventional clinical trials:

(show top 50) (show all 69)
# Name Status NCT ID Phase Drugs
1 Probiotic and Respiratory and Gastrointestinal Tract Infections in Finnish Military Conscripts - a Randomized and Placebo-controlled Double-blinded Study Unknown status NCT01651195 Phase 3
2 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
3 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
4 Nursing Care With Patients With Venous Leg Ulcers - Developing an Internet-based Education Program and Evaluation of Its Effectiveness Unknown status NCT02224300 Phase 2
5 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
6 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
7 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
8 A Phase 2a, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of AMG 714 in Adult Patients With Celiac Disease Completed NCT02637141 Phase 2
9 Pilot Study of Application of the Hubbard Detoxification Program to Veterans With Gulf War Illness Completed NCT01672710 Phase 2 plain crystalline niacin, exercise, sauna
10 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
11 A Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Active, not recruiting NCT02678689 Phase 2
12 Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Completed NCT01161576 Phase 1
13 Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children With Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151216 Phase 1
14 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
15 Efficacy of Choir Singing on Verbal, Cognitive, Emotional, and Neural Recovery From Aphasia Unknown status NCT03501797
16 Analysis of the Effects of Vocal Conditioning Through Semi-occluded Vocal Tract Exercises in Choir Singers Unknown status NCT03101449
17 The Glycemic and Insulinemic Responses of the Finnish Foods: Measurement and Modification Unknown status NCT01477216
18 Finnish Telestroke Pilot 2007-2009 Unknown status NCT01136993
19 The Finnish Diabetes Prevention Study: A Follow-up Study on the Effect of a Dietary and Exercise Intervention in the Prevention of Diabetes and Its Vascular Complications Unknown status NCT00518167
20 Finnish Geriatric Intervention Study to Prevent Cognitive Impairment and Disability Unknown status NCT01041989
21 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
22 Finnish Genetic Study for Arrhythmic Events Unknown status NCT02075866
23 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT01035424
24 Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151268
25 Regulation of Energy Balance and Metabolism - Mechanisms Behind and Beyond Obesity and Weight Loss Completed NCT03550339
26 Indirect Effects of Pneumococcal Vaccine on Nasopharyngeal Carriage: a FinIP Effectiveness Trial Satellite Study Completed NCT01311024
27 Implementing an Evidence-based Computerized Decision Support System Linked to Electronic Health Records to Improve Patient Care in a General Hospital Completed NCT02577198
28 The Effect of Pork With Modified Fatty Acid Composition on Plasma Lipids and Fatty Acids and the Effect of Pork and Berries on Fecal Compounds in Healthy Adults Completed NCT02469285
29 Efficacy and Neural Basis of Music-based Neurological Rehabilitation for Traumatic Brain Injury Completed NCT01956136
30 Family Welfare Pilot Intervention Study at Finnish Welfare Clinics Completed NCT01813903
31 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
32 Nationwide Finnish Registry of Transcatheter and Surgical Aortic Valve Replacement for Aortic Valve Stenosis: FinnValve Registry Completed NCT03385915
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 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
35 Finnish-German Prospective, Observational Follow-up Study on Risk Assessment of Mortality After Myocardial Infarction Completed NCT00828698
36 Finnish Vitamin D Trial (FIND) Completed NCT01463813
37 Finnish Elective Cardioversion for Persistent Atrial Fibrillation Study Completed NCT02850679
38 Prevention of Musculoskeletal Injuries in Finnish Conscripts. A Cluster Randomized Controlled Trial. Completed NCT00595816
39 Groin Injuries in Finnish Contact Sports: Prospective 2-year Clinical and Magnetic Resonance Imaging Study Completed NCT02560480
40 Reliability and Validity of the Finnish Versions of the Visual Analogue Scale Foot and Ankle and the Lower Extremity Functional Scale Completed NCT02536651
41 Lifestyle Intervention for Toddlers at Finnish Welfare Clinics Completed NCT01204489
42 Reliability and Validity of the Finnish Version of the Prothesis Evaluation Questionnaire Completed NCT02436148
43 Estimation of the Minimal Important Difference and Validation of Finnish Versions of Foot and Ankle Patient-reported Outcome Instruments Completed NCT03444441
44 Vitamin D Supplementation for the Prevention of Acute Respiratory Tract Infections; a Randomized Double-blinded Trial in Young Finnish Men Completed NCT00973583
45 Evidence for Validity and Reliability of the Finnish Version of the Foot and Ankle Ability Measure Completed NCT02330198
46 A Finnish Community Randomized Psychotherapy Effectiveness Study for Major Depression Completed NCT02314767
47 Finnish AntiCoagulation in Atrial Fibrillation (FinACAF) Completed NCT04645537
48 Finnish Spinal Cord Injury Study (FinSCI) Completed NCT04649814
49 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
50 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

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 29 CLN5

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 5

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 5:

40
Eye, Bone, Liver, Heart, Breast, Kidney, Lung

Publications for Ceroid Lipofuscinosis, Neuronal, 5

Articles related to Ceroid Lipofuscinosis, Neuronal, 5:

(show all 35)
# Title Authors PMID Year
1
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 6 57
25359263 2015
2
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 57 6
23160995 2012
3
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. 57 6
20157158 2010
4
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. 57 6
15728307 2005
5
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. 6 57
15349861 2004
6
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 6 57
9662406 1998
7
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 6
31319225 2019
8
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 6
26342652 2015
9
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 6
24038957 2013
10
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 6
23374165 2013
11
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 6
24058541 2013
12
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. 6
22727047 2012
13
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 6
22532218 2012
14
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 6
21990111 2012
15
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 6
20052765 2010
16
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 6
18684116 2008
17
The CLN9 protein, a regulator of dihydroceramide synthase. 57
16303764 2006
18
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 57
15965709 2005
19
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. 57
15459177 2004
20
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. 6
12134079 2002
21
Neuronal Ceroid-Lipofuscinoses – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301601 2001
22
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). 6
10953198 2000
23
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. 57
8661106 1996
24
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. 57
8644710 1996
25
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. 57
7942847 1994
26
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. 57
8020979 1994
27
Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus. 57
2071142 1991
28
The spectrum of Jansky-Bielschowsky disease. 57
1649978 1991
29
A variant of Jansky-Bielschowsky disease. 57
7133332 1982
30
The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease. 57
193610 1977
31
Cln5 is secreted and functions as a glycoside hydrolase in Dictyostelium. 61
29128403 2018
32
Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses. 61
28468312 2017
33
Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population. 61
21447811 2011
34
Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR. 61
7985561 1994
35
Somatosensory evoked potentials with high cortical amplitudes: clinical data in 31 children. 61
8072679 1994

Variations for Ceroid Lipofuscinosis, Neuronal, 5

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

6 (show top 50) (show all 159)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLN5 , FBXL3 NM_006493.4(CLN5):c.566-42_*46del Deletion Pathogenic 2571 rs1555274312 GRCh37: 13:77574551-77575150
GRCh38: 13:77000416-77001015
2 CLN5 , FBXL3 NM_006493.4(CLN5):c.1026_1027AT[1] (p.Thr342_Tyr343insTer) Microsatellite Pathogenic 2564 rs386833969 GRCh37: 13:77575053-77575054
GRCh38: 13:77000918-77000919
3 CLN5 NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) SNV Pathogenic 2565 rs104894385 GRCh37: 13:77566311-77566311
GRCh38: 13:76992176-76992176
4 CLN5 , FBXL3 NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) SNV Pathogenic 2566 rs28940280 GRCh37: 13:77574715-77574715
GRCh38: 13:77000580-77000580
5 CLN5 , FBXL3 NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr) SNV Pathogenic 2569 rs267606738 GRCh37: 13:77569254-77569254
GRCh38: 13:76995119-76995119
6 CLN5 , FBXL3 NM_006493.4(CLN5):c.371del (p.Ser124fs) Deletion Pathogenic 202192 rs794729218 GRCh37: 13:77570068-77570068
GRCh38: 13:76995933-76995933
7 CLN5 , FBXL3 NM_006493.4(CLN5):c.788G>A (p.Ser263Asn) SNV Pathogenic 183049 rs730882146 GRCh37: 13:77574815-77574815
GRCh38: 13:77000680-77000680
8 CLN5 , FBXL3 NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) Duplication Pathogenic 434793 rs1555274005 GRCh37: 13:77570206-77570207
GRCh38: 13:76996071-76996072
9 CLN5 NM_006493.4(CLN5):c.77G>A (p.Trp26Ter) SNV Pathogenic 553399 rs764790770 GRCh37: 13:77566310-77566310
GRCh38: 13:76992175-76992175
10 CLN5 , FBXL3 NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr) SNV Pathogenic 623394 rs1566219136 GRCh37: 13:77570128-77570128
GRCh38: 13:76995993-76995993
11 CLN5 NC_000013.10:g.77566134del Deletion Pathogenic 813489 rs765323914 GRCh37: 13:77566134-77566134
GRCh38: 13:76991999-76991999
12 CLN5 , FBXL3 NM_006493.4(CLN5):c.965_968del (p.Tyr322fs) Deletion Pathogenic 858697 GRCh37: 13:77574991-77574994
GRCh38: 13:77000856-77000859
13 CLN5 , FBXL3 NM_006493.4(CLN5):c.547C>T (p.Gln183Ter) SNV Pathogenic 224505 rs869312751 GRCh37: 13:77570244-77570244
GRCh38: 13:76996109-76996109
14 CLN5 , FBXL3 NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) SNV Pathogenic 205144 rs546989392 GRCh37: 13:77570145-77570145
GRCh38: 13:76996010-76996010
15 CLN5 , FBXL3 NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) Deletion Pathogenic/Likely pathogenic 128784 rs587780315 GRCh37: 13:77570221-77570221
GRCh38: 13:76996086-76996086
16 CLN5 , FBXL3 NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) SNV Pathogenic/Likely pathogenic 56536 rs386833972 GRCh37: 13:77570074-77570074
GRCh38: 13:76995939-76995939
17 CLN5 , FBXL3 NM_006493.4(CLN5):c.380_381insA (p.Gly128fs) Insertion Likely pathogenic 56537 rs386833973 GRCh37: 13:77570077-77570078
GRCh38: 13:76995942-76995943
18 CLN5 , FBXL3 NM_006493.4(CLN5):c.418C>T (p.Gln140Ter) SNV Likely pathogenic 56538 rs386833974 GRCh37: 13:77570115-77570115
GRCh38: 13:76995980-76995980
19 CLN5 , FBXL3 NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) SNV Likely pathogenic 56539 rs386833975 GRCh37: 13:77570125-77570125
GRCh38: 13:76995990-76995990
20 CLN5 , FBXL3 NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter) SNV Likely pathogenic 56525 rs386833963 GRCh37: 13:77574906-77574906
GRCh38: 13:77000771-77000771
21 CLN5 , FBXL3 NM_006493.4(CLN5):c.922_923CT[1] (p.Leu309fs) Microsatellite Likely pathogenic 56526 rs386833964 GRCh37: 13:77574948-77574949
GRCh38: 13:77000813-77000814
22 CLN5 , FBXL3 NM_006493.4(CLN5):c.925_926del (p.Leu309fs) Deletion Likely pathogenic 56527 rs386833965 GRCh37: 13:77574952-77574953
GRCh38: 13:77000817-77000818
23 CLN5 , FBXL3 NM_006493.4(CLN5):c.936del (p.Phe312fs) Deletion Likely pathogenic 56528 rs386833966 GRCh37: 13:77574959-77574959
GRCh38: 13:77000824-77000824
24 CLN5 , FBXL3 NM_006493.4(CLN5):c.956_959del (p.Lys319fs) Deletion Likely pathogenic 56529 rs386833967 GRCh37: 13:77574980-77574983
GRCh38: 13:77000845-77000848
25 CLN5 , FBXL3 NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) SNV Likely pathogenic 56530 rs386833968 GRCh37: 13:77575017-77575017
GRCh38: 13:77000882-77000882
26 CLN5 NM_006493.4(CLN5):c.144dup (p.Ser49fs) Duplication Likely pathogenic 56532 rs386833970 GRCh37: 13:77566373-77566374
GRCh38: 13:76992238-76992239
27 CLN5 , FBXL3 NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) SNV Likely pathogenic 56533 rs104894386 GRCh37: 13:77569212-77569212
GRCh38: 13:76995077-76995077
28 CLN5 , FBXL3 NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) SNV Likely pathogenic 56534 rs386833971 GRCh37: 13:77569310-77569310
GRCh38: 13:76995175-76995175
29 CLN5 , FBXL3 NM_006493.4(CLN5):c.339+5G>C SNV Likely pathogenic 56535 rs202146713 GRCh37: 13:77569368-77569368
GRCh38: 13:76995233-76995233
30 CLN5 , FBXL3 NM_006493.4(CLN5):c.907G>T (p.Glu303Ter) SNV Likely pathogenic 2568 rs121908292 GRCh37: 13:77574934-77574934
GRCh38: 13:77000799-77000799
31 CLN5 , FBXL3 NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) SNV Likely pathogenic 56541 rs386833977 GRCh37: 13:77570163-77570163
GRCh38: 13:76996028-76996028
32 CLN5 , FBXL3 NM_006493.4(CLN5):c.473G>C (p.Trp158Ser) SNV Likely pathogenic 56542 rs386833978 GRCh37: 13:77570170-77570170
GRCh38: 13:76996035-76996035
33 CLN5 , FBXL3 NM_006493.4(CLN5):c.522dup (p.Trp175fs) Duplication Likely pathogenic 56543 rs386833979 GRCh37: 13:77570218-77570219
GRCh38: 13:76996083-76996084
34 CLN5 , FBXL3 NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) SNV Likely pathogenic 56544 rs386833980 GRCh37: 13:77570221-77570221
GRCh38: 13:76996086-76996086
35 CLN5 , FBXL3 NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp) SNV Likely pathogenic 56545 rs386833981 GRCh37: 13:77574652-77574652
GRCh38: 13:77000517-77000517
36 CLN5 , FBXL3 NM_006493.4(CLN5):c.772del (p.Arg258fs) Deletion Likely pathogenic 56546 rs386833982 GRCh37: 13:77574798-77574798
GRCh38: 13:77000663-77000663
37 CLN5 , FBXL3 NM_006493.4(CLN5):c.775_776AT[1] (p.Phe260fs) Microsatellite Likely pathogenic 189038 rs786204644 GRCh37: 13:77574802-77574803
GRCh38: 13:77000667-77000668
38 CLN5 NM_006493.4(CLN5):c.131_132TC[1] (p.Ser45fs) Microsatellite Likely pathogenic 370084 rs780198002 GRCh37: 13:77566364-77566365
GRCh38: 13:76992229-76992230
39 CLN5 , FBXL3 NM_006493.4(CLN5):c.340-1del Deletion Likely pathogenic 370310 rs1057516390 GRCh37: 13:77570036-77570036
GRCh38: 13:76995901-76995901
40 CLN5 NM_006493.4(CLN5):c.155_167del (p.His52fs) Deletion Likely pathogenic 371261 rs1057517134 GRCh37: 13:77566385-77566397
GRCh38: 13:76992250-76992262
41 CLN5 NM_006493.4(CLN5):c.73_74delinsG (p.Ser25fs) Indel Likely pathogenic 370851 rs1057516814 GRCh37: 13:77566306-77566307
GRCh38: 13:76992171-76992172
42 CLN5 , FBXL3 NM_006493.4(CLN5):c.958C>T (p.Gln320Ter) SNV Likely pathogenic 370765 rs750935331 GRCh37: 13:77574985-77574985
GRCh38: 13:77000850-77000850
43 CLN5 , FBXL3 NM_006493.4(CLN5):c.793G>T (p.Glu265Ter) SNV Likely pathogenic 371570 rs764495616 GRCh37: 13:77574820-77574820
GRCh38: 13:77000685-77000685
44 CLN5 , FBXL3 NM_006493.4(CLN5):c.594_597del (p.Lys197_Trp198insTer) Deletion Likely pathogenic 635299 rs1593914689 GRCh37: 13:77574618-77574621
GRCh38: 13:77000483-77000486
45 CLN5 , FBXL3 NM_006493.4(CLN5):c.438del (p.His148fs) Deletion Likely pathogenic 558089 rs1555273992 GRCh37: 13:77570133-77570133
GRCh38: 13:76995998-76995998
46 CLN5 , FBXL3 NM_006493.4(CLN5):c.703_704GT[1] (p.Leu236fs) Microsatellite Likely pathogenic 558374 rs1555274343 GRCh37: 13:77574729-77574730
GRCh38: 13:77000594-77000595
47 CLN5 , FBXL3 NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer) Deletion Likely pathogenic 558456 rs1555274373 GRCh37: 13:77574943-77574943
GRCh38: 13:77000808-77000808
48 CLN5 , FBXL3 NM_006493.4(CLN5):c.191del (p.Pro64fs) Deletion Likely pathogenic 558491 rs1555273882 GRCh37: 13:77569214-77569214
GRCh38: 13:76995079-76995079
49 CLN5 , FBXL3 NM_006493.4(CLN5):c.665_672dup (p.Trp225fs) Duplication Likely pathogenic 558707 rs1555274337 GRCh37: 13:77574691-77574692
GRCh38: 13:77000556-77000557
50 CLN5 , FBXL3 NM_006493.4(CLN5):c.713_720del (p.Thr238fs) Deletion Likely pathogenic 552578 rs1555274344 GRCh37: 13:77574740-77574747
GRCh38: 13:77000605-77000612

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

72 (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

Pathways related to Ceroid Lipofuscinosis, Neuronal, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.33 VWF P2RY12

GO Terms for Ceroid Lipofuscinosis, Neuronal, 5

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.33 VWF P2RY12 F7
2 positive regulation of protein kinase B signaling GO:0051897 9.13 P2RY12 FGF4 F7
3 hemostasis GO:0007599 8.8 VWF P2RY12 F7

Sources for Ceroid Lipofuscinosis, Neuronal, 5

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