CLN6
MCID: CRD185
MIFTS: 54

Ceroid Lipofuscinosis, Neuronal, 6 (CLN6)

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 6

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 6:

Name: Ceroid Lipofuscinosis, Neuronal, 6 57 72 13 70
Neuronal Ceroid Lipofuscinosis 6 12 20 43 29 6 15
Cln6 57 12 20 72
Late-Infantile Neuronal Ceroid Lipofuscinosis 29 6
Cln6 Disease 43 58
Vlincl 57 72
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive, Formerly; Cln4a, Formerly 57
Neuronal Ceroid Lipofuscinosis, Gypsy/indian Early Juvenile Variant 20
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive, Formerly 57
Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant; Vlincl 57
Neuronal Ceroid Lipofuscinosis 6 with Variable Age at Onset 72
Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis 72
Ceroid Lipofuscinosis, Neuronal, 6, Variable Age at Onset 57
Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant 54
Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant 57
Neuronal Ceroid Lipofuscinosis 6 Variable Age of Onset 12
Late Infantile Neuronal Ceroid Lipofuscinosis 58
Cln6-Related Neuronal Ceroid Lipofuscinosis 43
Lipofuscinosis, Ceroid, Neuronal, Type 6 39
Ceroid Lipofuscinosis, Neuronal, 5 70
Ceroid Lipofuscinosis Neuronal 6 43
Cln6 Disease, Adult Kufs Type a 20
Cln6 Disease, Late Infantile 20
Jansky-Bielschowsky Disease 58
Late Infantile Ncl 58
Cln4a, Formerly 57
Lincl 58

Characteristics:

Orphanet epidemiological data:

58
late infantile neuronal ceroid lipofuscinosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Germany),1-9/1000000 (Italy),1-9/100000 (Finland),1-9/1000000 (Finland),<1/1000000 (Sweden),1-9/100000 (Canada),<1/1000000 (Norway),1-9/1000000 (Iceland); Age of onset: Childhood; Age of death: adolescent,late childhood;
cln6 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
onset 5 to 7 years
death in the mid-twenties


HPO:

31
ceroid lipofuscinosis, neuronal, 6:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110729
OMIM® 57 601780
OMIM Phenotypic Series 57 PS256730
MeSH 44 D009472
ICD10 32 E75.4
ICD10 via Orphanet 33 E75.4
UMLS via Orphanet 71 C0022340 C1866282
MedGen 41 C1866282
UMLS 70 C1850442 C1866282

Summaries for Ceroid Lipofuscinosis, Neuronal, 6

MedlinePlus Genetics : 43 CLN6 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between early and late childhood, but sometimes they can appear in adulthood.Most children with CLN6 disease initially experience the loss of previously acquired skills (developmental regression). Affected individuals can also develop recurrent seizures (epilepsy), difficulty coordinating movements (ataxia), muscle twitches (myoclonus), impaired speech (dysarthria), and vision loss. The movement problems worsen over time until affected children cannot walk, stand, or sit without assistance. Intellectual function also declines over time. Most children with CLN6 disease do not survive into adulthood.Some people with CLN6 disease do not show signs or symptoms of the condition until adulthood, typically after age 30. These individuals can have epilepsy, ataxia, dysarthria, and a progressive loss of intellectual function. CLN6 disease usually does not cause vision loss in affected adults. Adults with this condition do not often survive more than 10 years after diagnosis.CLN6 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, 6, also known as neuronal ceroid lipofuscinosis 6, is related to ceroid lipofuscinosis, neuronal, 2 and ceroid lipofuscinosis, neuronal, 4a, autosomal recessive, and has symptoms including seizures, ataxia and myoclonus. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 6 is CLN6 (CLN6 Transmembrane ER Protein), and among its related pathways/superpathways is Lysosome. Affiliated tissues include eye, and related phenotypes are eeg abnormality and ataxia

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 mutation in the CLN6 gene on chromosome 15q21-q23.

GARD : 20 Neuronal ceroid lipofuscinosis 6 (CLN6-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 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 developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes ( mutations ) in the CLN6 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 CLN6 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). Adult-onset neuronal ceroid lipofuscinosis, also known as Kufs disease, is a neurodegenerative disorder without retinal involvement. There are 2 overlapping phenotypes: type A, characterized by progressive myoclonic epilepsy, and type B, characterized by dementia and a variety of motor-system signs (summary by Arsov et al., 2011). For a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (601780) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Ceroid lipofuscinosis, neuronal, 6: 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 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 6

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

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 2 32.9 TPP1 MFSD8 CLN8 CLN6 CLN5
2 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 32.3 TPP1 SMPD1 CLN6
3 progressive myoclonus epilepsy 31.8 TPP1 CLN6 CLN5
4 ceroid lipofuscinosis, neuronal, 1 31.8 TPP1 MFSD8 CLN8 CLN6 CLN5
5 lysosomal storage disease 31.4 TPP1 SMPD1 FBXL3 CLN6 CLN5
6 mannosidosis, alpha b, lysosomal 31.4 MFSD8 CLN6
7 ceroid lipofuscinosis, neuronal, 11 31.4 MFSD8 CLN8 CLN6 CLN5
8 mucopolysaccharidosis, type iiia 31.4 TPP1 CLN6 CLN5
9 ceroid lipofuscinosis, neuronal, 9 31.4 MFSD8 CLN8 CLN6 CLN5
10 visual epilepsy 31.4 MFSD8 CLN8 CLN6 CLN5
11 aspartylglucosaminuria 31.4 CLN6 CLN5
12 progressive myoclonus epilepsy 3 31.3 TPP1 MFSD8 CLN8 CLN6
13 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 31.3 MFSD8 CLN8 CLN6 CLN5
14 unverricht-lundborg syndrome 31.3 MFSD8 CLN6 CLN5
15 ceroid lipofuscinosis, neuronal, 7 31.3 TPP1 MFSD8 CLN8 CLN6 CLN5
16 tay-sachs disease 31.3 TPP1 SMPD1 CLN6
17 ceroid lipofuscinosis, neuronal, 13 31.3 TPP1 MFSD8 CLN8 CLN6 CLN5
18 ceroid lipofuscinosis, neuronal, 10 31.2 TPP1 MFSD8 CLN8 CLN6 CLN5
19 mucopolysaccharidosis-plus syndrome 31.2 TPP1 SMPD1 CLN6 CLN5
20 spinocerebellar ataxia, autosomal recessive 7 31.2 TPP1 MFSD8 CLN8 CLN6 CLN5
21 mucopolysaccharidosis, type iiib 31.2 TPP1 CLN6
22 lipid storage disease 31.1 TPP1 SMPD1 CLN8 CLN6 CLN5
23 mucopolysaccharidosis iii 31.1 TPP1 SMPD1 MFSD8 CLN6 CLN5
24 neuronal ceroid-lipofuscinoses 30.6 TPP1 MFSD8 FBXL3 CLN8 CLN6 CLN5
25 neuronal ceroid lipofuscinosis 30.5 TPP1 SMPD1 MFSD8 FBXL3 CLN8 CLN6
26 ceroid lipofuscinosis, neuronal, 3 30.1 TPP1 SMPD1 MFSD8 CLN8 CLN6 CLN5
27 ceroid lipofuscinosis, neuronal, 5 11.4
28 adult neuronal ceroid lipofuscinosis 11.3
29 epilepsy 11.1
30 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 11.0
31 early myoclonic encephalopathy 10.9
32 seizure disorder 10.8
33 agenesis of the corpus callosum with peripheral neuropathy 10.8
34 myoclonic epilepsy of lafora 10.8
35 sandhoff disease 10.8
36 d-2-hydroxyglutaric aciduria 1 10.8
37 photosensitive epilepsy 10.8
38 mucolipidosis 10.8
39 gm2 gangliosidosis 10.8
40 gm1 gangliosidosis 10.8
41 glycoproteinosis 10.8
42 cerebral atrophy 10.8
43 tremor 10.5
44 spinocerebellar ataxia 7 10.4
45 3-methylglutaconic aciduria, type iii 10.4
46 autosomal recessive disease 10.4
47 microcephaly 10.4
48 autosomal dominant cerebellar ataxia 10.4
49 febrile seizures 10.4
50 myoclonus 10.3

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 6:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 6

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 6

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 6:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
4 abnormality of visual evoked potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0000649
5 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
6 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
7 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
8 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
9 cerebral atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002059
10 abdominal wall muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009023
11 seizure 31 hallmark (90%) HP:0001250
12 seizures 58 Very frequent (99-80%)
13 progressive visual loss 31 HP:0000529
14 motor deterioration 31 HP:0002333
15 abnormality of the eye 58 Very frequent (99-80%)
16 retinal degeneration 31 HP:0000546
17 increased neuronal autofluorescent lipopigment 31 HP:0002074
18 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003205
19 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003208
20 abnormal nervous system electrophysiology 31 HP:0001311

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
motor deterioration
mental deterioration
autofluorescent lipopigment in neurons
neurophysiologic abnormalities (eeg, sep, vep)

Laboratory Abnormalities:
'fingerprint' profiles ultrastructurally
'curvilinear' profiles ultrastructurally

Head And Neck Eyes:
retinal degeneration
vision loss, progressive

Clinical features from OMIM®:

601780 (Updated 20-May-2021)

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 6:


seizures; ataxia; myoclonus; clumsiness

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 ABCD2 ABHD16A CAMK1D CLN6 CLN8 ENPP5
2 vision/eye MP:0005391 9.28 CAMK1D CLN5 CLN6 CLN8 ENPP5 MFSD8

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 6

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 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
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 Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Completed NCT01161576 Phase 1
7 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
8 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
9 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT01035424
10 Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151268
11 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
12 Cerliponase Alfa Observational Study Recruiting NCT04476862 Cerliponase Alfa
13 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
14 Long-Term Follow-Up of AT-GTX-501 scAAV9 Gene Transfer in Subjects With CLN6 Batten Disease Recruiting NCT04273243
15 A Retrospective, Chart Review Study to Evaluate Ocular Disease Progression in Children With Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Not yet recruiting NCT04480476
16 Collection of Cerebrospinal Fluid in Healthy Children Terminated NCT01698229

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 6

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 6

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 6:

# Genetic test Affiliating Genes
1 Neuronal Ceroid Lipofuscinosis 6 29 CLN6
2 Late-Infantile Neuronal Ceroid Lipofuscinosis 29

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 6

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 6:

40
Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 6

Articles related to Ceroid Lipofuscinosis, Neuronal, 6:

(show top 50) (show all 124)
# Title Authors PMID Year
1
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 6 57
21549341 2011
2
Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. 6 57
15996215 2005
3
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. 6 57
11791207 2002
4
The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. 57 6
11727201 2002
5
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. 54 6
12673792 2003
6
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). 54 6
10953198 2000
7
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 54 6
9662406 1998
8
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. 6
31283065 2019
9
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. 6
31597037 2019
10
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 6
31319225 2019
11
Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation. 6
31059981 2019
12
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. 6
28708303 2018
13
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 6
28600779 2017
14
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. 6
28586915 2017
15
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
16
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 6
28041643 2017
17
A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies. 6
28464005 2017
18
CLN8 disease caused by large genomic deletions. 6
28116333 2017
19
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 6
26795593 2016
20
Clinical application of whole-exome sequencing across clinical indications. 6
26633542 2016
21
A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis. 6
26032578 2015
22
TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia. 6
26224725 2015
23
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 6
26342652 2015
24
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. 6
25976102 2015
25
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 6
26075876 2015
26
Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. 6
25439737 2015
27
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 6
25359263 2015
28
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
29
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. 6
25227500 2015
30
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
31
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. 6
25333361 2014
32
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 6
24038957 2013
33
CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. 6
23735787 2013
34
CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family. 6
23180398 2013
35
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 6
23539563 2013
36
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). 6
23418007 2013
37
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 6
23266810 2013
38
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 6
23374165 2013
39
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 6
24058541 2013
40
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 6
23160995 2012
41
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses. 6
22245569 2012
42
Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7. 6
22668694 2012
43
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 6
22612257 2012
44
Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis. 6
22221116 2012
45
Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion. 6
22220808 2012
46
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. 6
22727047 2012
47
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 6
22532218 2012
48
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 6
21990111 2012
49
Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. 6
21359198 2011
50
A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis. 6
20820830 2011

Variations for Ceroid Lipofuscinosis, Neuronal, 6

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 6:

6 (show top 50) (show all 819)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TPP1 NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) SNV Pathogenic 2646 rs28940573 GRCh37: 11:6638277-6638277
GRCh38: 11:6617046-6617046
2 TPP1 NM_000391.4(TPP1):c.640C>T (p.Gln214Ter) SNV Pathogenic 371293 rs752164603 GRCh37: 11:6638253-6638253
GRCh38: 11:6617022-6617022
3 TPP1 NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter) SNV Pathogenic 561135 rs1564854729 GRCh37: 11:6637283-6637283
GRCh38: 11:6616052-6616052
4 TPP1 NM_000391.4(TPP1):c.688-1G>T SNV Pathogenic 996031 GRCh37: 11:6638091-6638091
GRCh38: 11:6616860-6616860
5 TPP1 NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) SNV Pathogenic 68744 rs121908195 GRCh37: 11:6640007-6640007
GRCh38: 11:6618776-6618776
6 MFSD8 NM_152778.3(MFSD8):c.1286G>A (p.Gly429Asp) SNV Pathogenic 1002 rs118203976 GRCh37: 4:128842743-128842743
GRCh38: 4:127921588-127921588
7 MFSD8 NM_152778.3(MFSD8):c.894T>G (p.Tyr298Ter) SNV Pathogenic 1003 rs118203977 GRCh37: 4:128851942-128851942
GRCh38: 4:127930787-127930787
8 MFSD8 NM_001371596.2(MFSD8):c.468_469delinsCC (p.Ala157Pro) Indel Pathogenic 1007 GRCh37: 4:128863284-128863285
GRCh38: 4:127942129-127942130
9 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
10 CLN5 NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) SNV Pathogenic 2565 rs104894385 GRCh37: 13:77566311-77566311
GRCh38: 13:76992176-76992176
11 CLN5 , FBXL3 NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) SNV Pathogenic 2566 rs28940280 GRCh37: 13:77574715-77574715
GRCh38: 13:77000580-77000580
12 CLN5 , FBXL3 NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr) SNV Pathogenic 2569 rs267606738 GRCh37: 13:77569254-77569254
GRCh38: 13:76995119-76995119
13 TPP1 NM_000391.4(TPP1):c.1340G>A (p.Arg447His) SNV Pathogenic 2645 rs119455956 GRCh37: 11:6636487-6636487
GRCh38: 11:6615256-6615256
14 TPP1 NM_000391.4(TPP1):c.851G>T (p.Gly284Val) SNV Pathogenic 2647 rs119455957 GRCh37: 11:6637927-6637927
GRCh38: 11:6616696-6616696
15 TPP1 NM_000391.4(TPP1):c.887-10A>G SNV Pathogenic 2649 rs755445790 GRCh37: 11:6637744-6637744
GRCh38: 11:6616513-6616513
16 CLN8 NM_018941.3(CLN8):c.789G>C (p.Trp263Cys) SNV Pathogenic 2803 rs28940569 GRCh37: 8:1728661-1728661
GRCh38: 8:1780495-1780495
17 CLN8 NM_018941.3(CLN8):c.88G>C (p.Ala30Pro) SNV Pathogenic 2806 rs137852883 GRCh37: 8:1719308-1719308
GRCh38: 8:1771142-1771142
18 CLN6 NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) SNV Pathogenic 4077 rs104894483 GRCh37: 15:68506711-68506711
GRCh38: 15:68214373-68214373
19 CLN6 NM_017882.3(CLN6):c.511_513TAT[1] (p.Tyr172del) Microsatellite Pathogenic 4078 rs121908079 GRCh37: 15:68503627-68503629
GRCh38: 15:68211289-68211291
20 CLN6 NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) SNV Pathogenic 4079 rs104894484 GRCh37: 15:68504131-68504131
GRCh38: 15:68211793-68211793
21 CLN6 NM_017882.3(CLN6):c.7del (p.Ala3fs) Deletion Pathogenic 4080 rs786205065 GRCh37: 15:68521916-68521916
GRCh38: 15:68229578-68229578
22 CLN6 NM_017882.3(CLN6):c.393_394CT[1] (p.Ser132fs) Microsatellite Pathogenic 4082 rs774543080 GRCh37: 15:68504103-68504104
GRCh38: 15:68211765-68211766
23 CLN6 NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter) SNV Pathogenic 4084 rs104894486 GRCh37: 15:68501977-68501977
GRCh38: 15:68209639-68209639
24 CLN6 NM_017882.3(CLN6):c.542+5G>T SNV Pathogenic 4085 rs786205066 GRCh37: 15:68503596-68503596
GRCh38: 15:68211258-68211258
25 CLN6 NM_017882.3(CLN6):c.268_271dup (p.Val91fs) Duplication Pathogenic 4086 rs786205067 GRCh37: 15:68506653-68506654
GRCh38: 15:68214315-68214316
26 CLN5 , FBXL3 NM_006493.4(CLN5):c.566-42_*46del Deletion Pathogenic 2571 rs1555274312 GRCh37: 13:77574551-77575150
GRCh38: 13:77000416-77001015
27 TPP1 NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) SNV Pathogenic 2641 rs119455953 GRCh37: 11:6637288-6637288
GRCh38: 11:6616057-6616057
28 CLN8 NM_018941.3(CLN8):c.209G>A (p.Arg70His) SNV Pathogenic 56704 rs386834124 GRCh37: 8:1719429-1719429
GRCh38: 8:1771263-1771263
29 MFSD8 NM_152778.3(MFSD8):c.1141G>T (p.Glu381Ter) SNV Pathogenic 162379 rs724159970 GRCh37: 4:128842888-128842888
GRCh38: 4:127921733-127921733
30 MFSD8 NM_152778.3(MFSD8):c.1102G>C (p.Asp368His) SNV Pathogenic 162380 rs727502800 GRCh37: 4:128843015-128843015
GRCh38: 4:127921860-127921860
31 MFSD8 NM_152778.3(MFSD8):c.863+3_863+4insT Insertion Pathogenic 162381 rs727502801 GRCh37: 4:128854136-128854137
GRCh38: 4:127932981-127932982
32 MFSD8 NM_152778.4(MFSD8):c.1444C>T SNV Pathogenic 162382 rs724159971 GRCh37: 4:128841898-128841898
GRCh38: 4:127920743-127920743
33 CLN5 , FBXL3 NM_006493.4(CLN5):c.788G>A (p.Ser263Asn) SNV Pathogenic 183049 rs730882146 GRCh37: 13:77574815-77574815
GRCh38: 13:77000680-77000680
34 CLN5 , FBXL3 NM_006493.4(CLN5):c.371del (p.Ser124fs) Deletion Pathogenic 202192 rs794729218 GRCh37: 13:77570068-77570068
GRCh38: 13:76995933-76995933
35 CLN6 NM_017882.2(CLN6):c.461_463del (p.Ile154del) Microsatellite Pathogenic 4083 rs121908080 GRCh37: 15:68504036-68504038
GRCh38: 15:68211698-68211700
36 MFSD8 NM_152778.3(MFSD8):c.754+2T>A SNV Pathogenic 65897 rs587778809 GRCh37: 4:128859936-128859936
GRCh38: 4:127938781-127938781
37 TPP1 NM_000391.4(TPP1):c.1266G>C (p.Gln422His) SNV Pathogenic 68738 rs121908200 GRCh37: 11:6636673-6636673
GRCh38: 11:6615442-6615442
38 SMPD1 NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) SNV Pathogenic 100731 rs587779408 GRCh37: 11:6413034-6413034
GRCh38: 11:6391804-6391804
39 CLN8 NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) SNV Pathogenic 100736 rs587779411 GRCh37: 8:1728664-1728664
GRCh38: 8:1780498-1780498
40 MFSD8 NM_152778.3(MFSD8):c.416G>A (p.Arg139His) SNV Pathogenic 431131 rs749704755 GRCh37: 4:128864930-128864930
GRCh38: 4:127943775-127943775
41 CLN5 , FBXL3 NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) Duplication Pathogenic 434793 rs1555274005 GRCh37: 13:77570206-77570207
GRCh38: 13:76996071-76996072
42 MFSD8 NM_152778.3(MFSD8):c.1036del (p.Val346fs) Deletion Pathogenic 464776 rs1439582451 GRCh37: 4:128843081-128843081
GRCh38: 4:127921926-127921926
43 CLN5 NM_006493.4(CLN5):c.77G>A (p.Trp26Ter) SNV Pathogenic 553399 rs764790770 GRCh37: 13:77566310-77566310
GRCh38: 13:76992175-76992175
44 TPP1 NM_000391.4(TPP1):c.509-1G>A SNV Pathogenic 207574 rs56144125 GRCh37: 11:6638385-6638385
GRCh38: 11:6617154-6617154
45 CLN8 NM_018941.3(CLN8):c.1A>G (p.Met1Val) SNV Pathogenic 487522 rs143730802 GRCh37: 8:1719221-1719221
GRCh38: 8:1771055-1771055
46 CLN6 NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn) SNV Pathogenic 560343 rs1567096598 GRCh37: 15:68506675-68506675
GRCh38: 15:68214337-68214337
47 CLN6 NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) SNV Pathogenic 498240 rs201095412 GRCh37: 15:68504192-68504192
GRCh38: 15:68211854-68211854
48 CLN6 NM_017882.3(CLN6):c.486+8C>T SNV Pathogenic 128786 rs149692285 GRCh37: 15:68504005-68504005
GRCh38: 15:68211667-68211667
49 CLN6 NM_017882.3(CLN6):c.552dup (p.Phe185fs) Duplication Pathogenic 560341 rs1567095153 GRCh37: 15:68502087-68502088
GRCh38: 15:68209749-68209750
50 MFSD8 NM_152778.3(MFSD8):c.1086del (p.Ile364fs) Deletion Pathogenic 578890 rs1460276679 GRCh37: 4:128843031-128843031
GRCh38: 4:127921876-127921876

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 6:

72 (show all 17)
# Symbol AA change Variation ID SNP ID
1 CLN6 p.Gly123Asp VAR_015683 rs104894484
2 CLN6 p.Trp300Arg VAR_015686 rs750937323
3 CLN6 p.Arg62His VAR_021549 rs751486476
4 CLN6 p.Tyr221Ser VAR_021551 rs764571295
5 CLN6 p.Met241Thr VAR_021552 rs155543825
6 CLN6 p.Pro299Leu VAR_021554 rs758921701
7 CLN6 p.Pro159Leu VAR_058436 rs919850756
8 CLN6 p.Tyr221Cys VAR_058437 rs764571295
9 CLN6 p.Asn90Lys VAR_066906
10 CLN6 p.Ser104Phe VAR_066907
11 CLN6 p.Arg149Cys VAR_066908 rs747229909
12 CLN6 p.Leu169Pro VAR_066909 rs134465885
13 CLN6 p.Phe186Ser VAR_066910
14 CLN6 p.Phe234Leu VAR_066911 rs959199004
15 CLN6 p.Arg252His VAR_066912 rs374681194
16 CLN6 p.Gly259Ser VAR_066913 rs150363441
17 CLN6 p.Pro297Thr VAR_066914 rs119494013

Expression for Ceroid Lipofuscinosis, Neuronal, 6

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 6.

Pathways for Ceroid Lipofuscinosis, Neuronal, 6

Pathways related to Ceroid Lipofuscinosis, Neuronal, 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.03 TPP1 SMPD1 MFSD8 CLN5

GO Terms for Ceroid Lipofuscinosis, Neuronal, 6

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.92 TPP1 SMPD1 MFSD8 CLN5

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 9.5 SMPD1 CLN8 CLN6
2 ceramide biosynthetic process GO:0046513 9.4 SMPD1 CLN8
3 ceramide metabolic process GO:0006672 9.37 SMPD1 CLN8
4 lysosomal lumen acidification GO:0007042 9.26 CLN6 CLN5
5 protein catabolic process GO:0030163 9.26 TPP1 CLN8 CLN6 CLN5
6 cellular macromolecule catabolic process GO:0044265 9.16 CLN8 CLN6
7 lysosome organization GO:0007040 9.02 TPP1 MFSD8 CLN8 CLN6 CLN5

Molecular functions related to Ceroid Lipofuscinosis, Neuronal, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ceramide binding GO:0097001 9.16 PLTP CLN8
2 lysophosphatidic acid binding GO:0035727 8.96 TPP1 CLN6
3 sulfatide binding GO:0120146 8.62 TPP1 CLN6

Sources for Ceroid Lipofuscinosis, Neuronal, 6

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