CLN6
MCID: CRD185
MIFTS: 44

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 58 76 13 74
Neuronal Ceroid Lipofuscinosis 6 12 54 26 15
Cln6 58 12 54 76
Ceroid Lipofuscinosis Neuronal 6 26 30 6
Late-Infantile Neuronal Ceroid Lipofuscinosis 30 6
Cln6 Disease 26 60
Vlincl 58 76
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive, Formerly; Cln4a, Formerly 58
Neuronal Ceroid Lipofuscinosis, Gypsy/indian Early Juvenile Variant 54
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive, Formerly 58
Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant; Vlincl 58
Neuronal Ceroid Lipofuscinosis 6 with Variable Age at Onset 76
Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis 76
Ceroid Lipofuscinosis, Neuronal, 6, Variable Age at Onset 58
Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant 56
Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant 58
Neuronal Ceroid Lipofuscinosis 6 Variable Age of Onset 12
Late Infantile Neuronal Ceroid Lipofuscinosis 60
Cln6-Related Neuronal Ceroid Lipofuscinosis 26
Lipofuscinosis, Ceroid, Neuronal, Type 6 41
Ceroid Lipofuscinosis, Neuronal, 5 74
Cln6 Disease, Adult Kufs Type a 54
Cln6 Disease, Late Infantile 54
Jansky-Bielschowsky Disease 60
Late Infantile Ncl 60
Cln4a, Formerly 58
Lincl 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

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


HPO:

33
ceroid lipofuscinosis, neuronal, 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110729
OMIM 58 601780
MeSH 45 D009472
ICD10 34 E75.4
ICD10 via Orphanet 35 E75.4
UMLS via Orphanet 75 C0022340 C1866282
MedGen 43 C1866282

Summaries for Ceroid Lipofuscinosis, Neuronal, 6

OMIM : 58 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)

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 6, also known as neuronal ceroid lipofuscinosis 6, is related to ceroid lipofuscinosis, neuronal, 2 and neuronal ceroid-lipofuscinoses, 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. The drugs Belinostat and Histone Deacetylase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye and t cells, and related phenotypes are seizures 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.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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 all 33)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 2 33.2 CLN5 CLN6 MFSD8
2 neuronal ceroid-lipofuscinoses 31.7 CLN5 CLN6 MFSD8
3 ceroid lipofuscinosis, neuronal, 9 31.5 CLN5 CLN6
4 ceroid lipofuscinosis, neuronal, 10 31.4 CLN5 CLN6
5 ceroid storage disease 31.2 CLN5 CLN6
6 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 31.0 CLN5 CLN6 MFSD8
7 ceroid lipofuscinosis, neuronal, 7 30.9 CLN5 CLN6 MFSD8
8 ceroid lipofuscinosis, neuronal, 11 30.9 CLN5 CLN6 MFSD8
9 lipid storage disease 30.8 CLN5 CLN6 SMPD1
10 ceroid lipofuscinosis, neuronal, 3 30.2 CLN5 CLN6
11 neuronal ceroid lipofuscinosis 30.2 CLN5 CLN6 MFSD8
12 ceroid lipofuscinosis, neuronal, 1 29.8 CLN5 CLN6 MFSD8
13 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 12.3
14 adult neuronal ceroid lipofuscinosis 12.0
15 progressive myoclonus epilepsy 11.5
16 ceroid lipofuscinosis, neuronal, 5 11.5
17 ceroid lipofuscinosis, neuronal, 8 11.4
18 visual epilepsy 11.2
19 photosensitive epilepsy 11.1
20 cerebral atrophy 11.1
21 spinocerebellar ataxia 7 10.3
22 aging 10.3
23 spinocerebellar ataxia, autosomal recessive 7 10.3
24 autosomal dominant cerebellar ataxia 10.3
25 precocious puberty 10.3
26 lysosomal storage disease 10.2
27 apraxia 10.2
28 retinal degeneration 10.2
29 dystonia 10.1
30 epilepsy 10.0
31 myoclonus epilepsy 10.0
32 cln4 disease 10.0
33 myoclonus 10.0

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:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
4 developmental regression 60 33 hallmark (90%) Very frequent (99-80%) HP:0002376
5 abnormality of visual evoked potentials 60 33 hallmark (90%) Very frequent (99-80%) HP:0000649
6 retinopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000488
7 abnormality of vision 60 33 hallmark (90%) Very frequent (99-80%) HP:0000504
8 abdominal wall muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0009023
9 myoclonus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001336
10 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
11 cerebral atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002059
12 abnormality of the eye 60 Very frequent (99-80%)
13 progressive visual loss 33 HP:0000529
14 motor deterioration 33 HP:0002333
15 retinal degeneration 33 HP:0000546
16 increased neuronal autofluorescent lipopigment 33 HP:0002074
17 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003205
18 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003208
19 abnormal nervous system electrophysiology 33 HP:0001311

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 6:


seizures, ataxia, myoclonus, clumsiness

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.26 CLN5 CLN6 MFSD8 SMPD1
2 vision/eye MP:0005391 8.8 CLN5 CLN6 MFSD8

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 6

Drugs for Ceroid Lipofuscinosis, Neuronal, 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Belinostat Approved, Investigational Phase 2 866323-14-0
2 Histone Deacetylase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Batten CLN6 Gene Therapy Active, not recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
2 A Phase II Clinical Trial of PXD101 in Patients With Recurrent or Refractory Cutaneous and Peripheral T-Cell Lymphomas Terminated NCT00274651 Phase 2 belinostat
3 Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae Recruiting NCT03285425
4 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924

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 Ceroid Lipofuscinosis Neuronal 6 30 CLN6
2 Late-Infantile Neuronal Ceroid Lipofuscinosis 30

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 6

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

42
Eye, T Cells

Publications for Ceroid Lipofuscinosis, Neuronal, 6

Articles related to Ceroid Lipofuscinosis, Neuronal, 6:

# Title Authors Year
1
Running apraxia as a presenting symptom of neuronal ceroid lipofuscinosis 6. ( 24151230 )
2013

Variations for Ceroid Lipofuscinosis, Neuronal, 6

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

76 (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
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

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

6 (show top 50) (show all 122)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN6 NM_017882.2(CLN6): c.53C> T (p.Ala18Val) single nucleotide variant Conflicting interpretations of pathogenicity rs547125345 GRCh37 Chromosome 15, 68521870: 68521870
2 CLN6 NM_017882.2(CLN6): c.53C> T (p.Ala18Val) single nucleotide variant Conflicting interpretations of pathogenicity rs547125345 GRCh38 Chromosome 15, 68229532: 68229532
3 CLN6 NM_017882.2(CLN6): c.923G> C (p.Ser308Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143578698 GRCh37 Chromosome 15, 68500491: 68500491
4 CLN6 NM_017882.2(CLN6): c.923G> C (p.Ser308Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143578698 GRCh38 Chromosome 15, 68208153: 68208153
5 CLN6 NM_017882.2(CLN6): c.794_796delCCT (p.Ser265del) deletion Conflicting interpretations of pathogenicity rs768422260 GRCh38 Chromosome 15, 68208280: 68208282
6 CLN6 NM_017882.2(CLN6): c.794_796delCCT (p.Ser265del) deletion Conflicting interpretations of pathogenicity rs768422260 GRCh37 Chromosome 15, 68500618: 68500620
7 CLN6 NM_017882.2(CLN6): c.755G> A (p.Arg252His) single nucleotide variant Uncertain significance rs374681194 GRCh38 Chromosome 15, 68208321: 68208321
8 CLN6 NM_017882.2(CLN6): c.755G> A (p.Arg252His) single nucleotide variant Uncertain significance rs374681194 GRCh37 Chromosome 15, 68500659: 68500659
9 CLN6 NM_017882.2(CLN6): c.728C> T (p.Ala243Val) single nucleotide variant Uncertain significance rs767164948 GRCh38 Chromosome 15, 68208348: 68208348
10 CLN6 NM_017882.2(CLN6): c.728C> T (p.Ala243Val) single nucleotide variant Uncertain significance rs767164948 GRCh37 Chromosome 15, 68500686: 68500686
11 CLN6 NM_017882.2(CLN6): c.304G> A (p.Glu102Lys) single nucleotide variant Uncertain significance rs796052352 GRCh38 Chromosome 15, 68211857: 68211857
12 CLN6 NM_017882.2(CLN6): c.304G> A (p.Glu102Lys) single nucleotide variant Uncertain significance rs796052352 GRCh37 Chromosome 15, 68504195: 68504195
13 CLN6 NM_017882.2(CLN6): c.49G> A (p.Gly17Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs763944821 GRCh37 Chromosome 15, 68521874: 68521874
14 CLN6 NM_017882.2(CLN6): c.49G> A (p.Gly17Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs763944821 GRCh38 Chromosome 15, 68229536: 68229536
15 CLN6 NM_017882.2(CLN6): c.5A> G (p.Glu2Gly) single nucleotide variant Uncertain significance rs3743088 GRCh37 Chromosome 15, 68521918: 68521918
16 CLN6 NM_017882.2(CLN6): c.5A> G (p.Glu2Gly) single nucleotide variant Uncertain significance rs3743088 GRCh38 Chromosome 15, 68229580: 68229580
17 CLN6 NM_017882.2(CLN6): c.775G> C (p.Gly259Arg) single nucleotide variant Uncertain significance rs150363441 GRCh38 Chromosome 15, 68208301: 68208301
18 CLN6 NM_017882.2(CLN6): c.775G> C (p.Gly259Arg) single nucleotide variant Uncertain significance rs150363441 GRCh37 Chromosome 15, 68500639: 68500639
19 CLN6 NM_017882.2(CLN6): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs104894483 GRCh37 Chromosome 15, 68506711: 68506711
20 CLN6 NM_017882.2(CLN6): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs104894483 GRCh38 Chromosome 15, 68214373: 68214373
21 CLN6 NM_017882.2(CLN6): c.511_513delTAT (p.Tyr172del) deletion Pathogenic rs121908079 GRCh37 Chromosome 15, 68503630: 68503632
22 CLN6 NM_017882.2(CLN6): c.511_513delTAT (p.Tyr172del) deletion Pathogenic rs121908079 GRCh38 Chromosome 15, 68211292: 68211294
23 CLN6 NM_017882.2(CLN6): c.368G> A (p.Gly123Asp) single nucleotide variant Pathogenic rs104894484 GRCh37 Chromosome 15, 68504131: 68504131
24 CLN6 NM_017882.2(CLN6): c.368G> A (p.Gly123Asp) single nucleotide variant Pathogenic rs104894484 GRCh38 Chromosome 15, 68211793: 68211793
25 CLN6 NM_017882.2(CLN6): c.7delG (p.Ala3Argfs) deletion Pathogenic rs786205065 GRCh38 Chromosome 15, 68229578: 68229578
26 CLN6 NM_017882.2(CLN6): c.7delG (p.Ala3Argfs) deletion Pathogenic rs786205065 GRCh37 Chromosome 15, 68521916: 68521916
27 CLN6 NM_017882.2(CLN6): c.316dupC (p.Arg106Profs) duplication Pathogenic rs397515352 GRCh37 Chromosome 15, 68504183: 68504183
28 CLN6 NM_017882.2(CLN6): c.316dupC (p.Arg106Profs) duplication Pathogenic rs397515352 GRCh38 Chromosome 15, 68211845: 68211845
29 CLN6 NM_017882.2(CLN6): c.395_396delCT (p.Ser132Cysfs) deletion Pathogenic rs774543080 GRCh38 Chromosome 15, 68211765: 68211766
30 CLN6 NM_017882.2(CLN6): c.395_396delCT (p.Ser132Cysfs) deletion Pathogenic rs774543080 GRCh37 Chromosome 15, 68504103: 68504104
31 CLN6 NM_017882.2(CLN6): c.461_463del (p.Ile154del) deletion Likely pathogenic rs121908080 GRCh37 Chromosome 15, 68504036: 68504038
32 CLN6 NM_017882.2(CLN6): c.461_463del (p.Ile154del) deletion Likely pathogenic rs121908080 GRCh38 Chromosome 15, 68211698: 68211700
33 CLN6 NM_017882.2(CLN6): c.663C> G (p.Tyr221Ter) single nucleotide variant Pathogenic rs104894486 GRCh37 Chromosome 15, 68501977: 68501977
34 CLN6 NM_017882.2(CLN6): c.663C> G (p.Tyr221Ter) single nucleotide variant Pathogenic rs104894486 GRCh38 Chromosome 15, 68209639: 68209639
35 CLN6 NM_017882.2(CLN6): c.542+5G> T single nucleotide variant Pathogenic rs786205066 GRCh38 Chromosome 15, 68211258: 68211258
36 CLN6 NM_017882.2(CLN6): c.542+5G> T single nucleotide variant Pathogenic rs786205066 GRCh37 Chromosome 15, 68503596: 68503596
37 CLN6 NM_017882.2(CLN6): c.268_271dupAACG (p.Val91Glufs) duplication Pathogenic rs786205067 GRCh38 Chromosome 15, 68214316: 68214319
38 CLN6 NM_017882.2(CLN6): c.268_271dupAACG (p.Val91Glufs) duplication Pathogenic rs786205067 GRCh37 Chromosome 15, 68506654: 68506657
39 CLN6 NM_017882.2(CLN6): c.308G> A (p.Arg103Gln) single nucleotide variant Uncertain significance rs154774634 GRCh37 Chromosome 15, 68504191: 68504191
40 CLN6 NM_017882.2(CLN6): c.308G> A (p.Arg103Gln) single nucleotide variant Uncertain significance rs154774634 GRCh38 Chromosome 15, 68211853: 68211853
41 CLN6 NM_017882.2(CLN6): c.139C> T (p.Leu47Phe) single nucleotide variant Uncertain significance rs154774635 GRCh37 Chromosome 15, 68510933: 68510933
42 CLN6 NM_017882.2(CLN6): c.139C> T (p.Leu47Phe) single nucleotide variant Uncertain significance rs154774635 GRCh38 Chromosome 15, 68218595: 68218595
43 CLN6 NM_017882.2(CLN6): c.150C> G (p.Tyr50Ter) single nucleotide variant Pathogenic/Likely pathogenic rs154774640 GRCh37 Chromosome 15, 68510922: 68510922
44 CLN6 NM_017882.2(CLN6): c.150C> G (p.Tyr50Ter) single nucleotide variant Pathogenic/Likely pathogenic rs154774640 GRCh38 Chromosome 15, 68218584: 68218584
45 CLN6 NM_017882.2(CLN6): c.446G> A (p.Arg149His) single nucleotide variant Uncertain significance rs154774638 GRCh37 Chromosome 15, 68504053: 68504053
46 CLN6 NM_017882.2(CLN6): c.446G> A (p.Arg149His) single nucleotide variant Uncertain significance rs154774638 GRCh38 Chromosome 15, 68211715: 68211715
47 CLN6 NM_017882.2(CLN6): c.890delC (p.Pro297Leufs) deletion Likely pathogenic rs154774639 GRCh37 Chromosome 15, 68500524: 68500524
48 CLN6 NM_017882.2(CLN6): c.890delC (p.Pro297Leufs) deletion Likely pathogenic rs154774639 GRCh38 Chromosome 15, 68208186: 68208186
49 SMPD1 NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587779408 GRCh37 Chromosome 11, 6413034: 6413034
50 SMPD1 NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587779408 GRCh38 Chromosome 11, 6391804: 6391804

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 10.89 CLN5 MFSD8 SMPD1

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 lysosomal membrane GO:0005765 8.96 CLN5 MFSD8
2 lysosome GO:0005764 8.8 CLN5 MFSD8 SMPD1

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

# Name GO ID Score Top Affiliating Genes
1 protein catabolic process GO:0030163 9.16 CLN5 CLN6
2 lysosome organization GO:0007040 8.96 CLN6 MFSD8
3 lysosomal lumen acidification GO:0007042 8.62 CLN5 CLN6

Sources for Ceroid Lipofuscinosis, Neuronal, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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39 LifeMap
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45 MeSH
46 MESH via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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