MCID: CRD185
MIFTS: 33

Ceroid Lipofuscinosis, Neuronal, 6

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 6

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 6:

Name: Ceroid Lipofuscinosis, Neuronal, 6 57 75 13 73
Neuronal Ceroid Lipofuscinosis 6 12 53 25 15
Cln6 57 12 53 75
Ceroid Lipofuscinosis Neuronal 6 25 29 6
Cln6 Disease 25 59
Neuronal Ceroid Lipofuscinosis, Gypsy/indian Early Juvenile Variant 53
Neuronal Ceroid Lipofuscinosis 6 with Variable Age at Onset 75
Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis 75
Ceroid Lipofuscinosis, Neuronal, 6, Variable Age at Onset 57
Neuronal Ceroid Lipofuscinosis 6 Variable Age of Onset 12
Cln6-Related Neuronal Ceroid Lipofuscinosis 25
Lipofuscinosis, Ceroid, Neuronal, Type 6 40
Ceroid Lipofuscinosis, Neuronal, 5 73
Cln6 Disease, Adult Kufs Type a 53
Cln6 Disease, Late Infantile 53
Vlincl 75

Characteristics:

Orphanet epidemiological data:

59
cln6 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ceroid lipofuscinosis, neuronal, 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 601780
Disease Ontology 12 DOID:0110729
ICD10 33 E75.4
Orphanet 59 ORPHA228363
ICD10 via Orphanet 34 E75.4
UMLS via Orphanet 74 C1866282
MedGen 42 C1866282
MeSH 44 D009472

Summaries for Ceroid Lipofuscinosis, Neuronal, 6

NIH Rare Diseases : 53 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.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 6, also known as neuronal ceroid lipofuscinosis 6, is related to lipid storage disease and ceroid lipofuscinosis, neuronal, 4a, autosomal recessive, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 6 is CLN6 (CLN6, Transmembrane ER Protein). The drugs Belinostat and Histone Deacetylase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include t cells, and related phenotypes are progressive visual loss and retinal degeneration

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). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (601780)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

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.

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 27)
# Related Disease Score Top Affiliating Genes
1 lipid storage disease 29.7 CLN6 SMPD1
2 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 12.1
3 adult neuronal ceroid lipofuscinosis 11.8
4 ceroid lipofuscinosis, neuronal, 1 11.8
5 neuronal ceroid lipofuscinosis 11.6
6 neuronal ceroid-lipofuscinoses 11.5
7 progressive myoclonus epilepsy 11.4
8 ceroid lipofuscinosis, neuronal, 5 11.3
9 ceroid lipofuscinosis, neuronal, 2 11.1
10 ceroid lipofuscinosis, neuronal, 9 10.9
11 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.9
12 ceroid lipofuscinosis, neuronal, 10 10.9
13 ceroid lipofuscinosis, neuronal, 7 10.9
14 ceroid lipofuscinosis, neuronal, 11 10.9
15 photosensitive epilepsy 10.9
16 visual epilepsy 10.9
17 cerebral atrophy 10.9
18 ceroid storage disease 10.8
19 neuronitis 10.5
20 lysosomal storage disease 10.0
21 retinitis 10.0
22 retinal degeneration 10.0
23 epilepsy 9.8
24 cerebritis 9.8
25 myoclonus epilepsy 9.8
26 cln4 disease 9.8
27 myoclonus 9.8

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 6:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 32 HP:0000529
2 retinal degeneration 32 HP:0000546
3 seizures 32 HP:0001250
4 abnormal nervous system electrophysiology 32 HP:0001311
5 increased neuronal autofluorescent lipopigment 32 HP:0002074
6 motor deterioration 32 HP:0002333
7 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003205
8 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003208

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 6:


ataxia, myoclonus, seizures, clumsiness

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 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

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 29 CLN6

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 6

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

41
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:

75 (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
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

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

6
(show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN6 NM_017882.2(CLN6): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs104894483 GRCh37 Chromosome 15, 68506711: 68506711
2 CLN6 NM_017882.2(CLN6): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs104894483 GRCh38 Chromosome 15, 68214373: 68214373
3 CLN6 NM_017882.2(CLN6): c.511_513delTAT (p.Tyr172del) deletion Pathogenic rs121908079 GRCh37 Chromosome 15, 68503630: 68503632
4 CLN6 NM_017882.2(CLN6): c.511_513delTAT (p.Tyr172del) deletion Pathogenic rs121908079 GRCh38 Chromosome 15, 68211292: 68211294
5 CLN6 NM_017882.2(CLN6): c.368G> A (p.Gly123Asp) single nucleotide variant Pathogenic rs104894484 GRCh37 Chromosome 15, 68504131: 68504131
6 CLN6 NM_017882.2(CLN6): c.368G> A (p.Gly123Asp) single nucleotide variant Pathogenic rs104894484 GRCh38 Chromosome 15, 68211793: 68211793
7 CLN6 NM_017882.2(CLN6): c.7delG (p.Ala3Argfs) deletion Pathogenic rs786205065 GRCh38 Chromosome 15, 68229578: 68229578
8 CLN6 NM_017882.2(CLN6): c.7delG (p.Ala3Argfs) deletion Pathogenic rs786205065 GRCh37 Chromosome 15, 68521916: 68521916
9 CLN6 NM_017882.2(CLN6): c.316dupC (p.Arg106Profs) duplication Pathogenic rs397515352 GRCh37 Chromosome 15, 68504183: 68504183
10 CLN6 NM_017882.2(CLN6): c.316dupC (p.Arg106Profs) duplication Pathogenic rs397515352 GRCh38 Chromosome 15, 68211845: 68211845
11 CLN6 NM_017882.2(CLN6): c.395_396delCT (p.Ser132Cysfs) deletion Pathogenic rs774543080 GRCh38 Chromosome 15, 68211765: 68211766
12 CLN6 NM_017882.2(CLN6): c.395_396delCT (p.Ser132Cysfs) deletion Pathogenic rs774543080 GRCh37 Chromosome 15, 68504103: 68504104
13 CLN6 NM_017882.2(CLN6): c.460_462delATC (p.Ile154del) deletion Pathogenic rs121908080 GRCh37 Chromosome 15, 68504037: 68504039
14 CLN6 NM_017882.2(CLN6): c.460_462delATC (p.Ile154del) deletion Pathogenic rs121908080 GRCh38 Chromosome 15, 68211699: 68211701
15 CLN6 NM_017882.2(CLN6): c.663C> G (p.Tyr221Ter) single nucleotide variant Pathogenic rs104894486 GRCh37 Chromosome 15, 68501977: 68501977
16 CLN6 NM_017882.2(CLN6): c.663C> G (p.Tyr221Ter) single nucleotide variant Pathogenic rs104894486 GRCh38 Chromosome 15, 68209639: 68209639
17 CLN6 NM_017882.2(CLN6): c.542+5G> T single nucleotide variant Pathogenic rs786205066 GRCh38 Chromosome 15, 68211258: 68211258
18 CLN6 NM_017882.2(CLN6): c.542+5G> T single nucleotide variant Pathogenic rs786205066 GRCh37 Chromosome 15, 68503596: 68503596
19 CLN6 NM_017882.2(CLN6): c.268_271dupAACG (p.Val91Glufs) duplication Pathogenic rs786205067 GRCh38 Chromosome 15, 68214316: 68214319
20 CLN6 NM_017882.2(CLN6): c.268_271dupAACG (p.Val91Glufs) duplication Pathogenic rs786205067 GRCh37 Chromosome 15, 68506654: 68506657
21 SMPD1 NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587779408 GRCh37 Chromosome 11, 6413034: 6413034
22 SMPD1 NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587779408 GRCh38 Chromosome 11, 6391804: 6391804
23 CLN6 NM_017882.2(CLN6): c.53C> T (p.Ala18Val) single nucleotide variant Conflicting interpretations of pathogenicity rs547125345 GRCh37 Chromosome 15, 68521870: 68521870
24 CLN6 NM_017882.2(CLN6): c.53C> T (p.Ala18Val) single nucleotide variant Conflicting interpretations of pathogenicity rs547125345 GRCh38 Chromosome 15, 68229532: 68229532
25 CLN6 NM_017882.2(CLN6): c.923G> C (p.Ser308Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143578698 GRCh37 Chromosome 15, 68500491: 68500491
26 CLN6 NM_017882.2(CLN6): c.923G> C (p.Ser308Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143578698 GRCh38 Chromosome 15, 68208153: 68208153
27 CLN6 NM_017882.2(CLN6): c.829_837delGTCGCCTGG (p.Val277_Trp279del) deletion no interpretation for the single variant rs794729220 GRCh38 Chromosome 15, 68208239: 68208247
28 CLN6 NM_017882.2(CLN6): c.829_837delGTCGCCTGG (p.Val277_Trp279del) deletion no interpretation for the single variant rs794729220 GRCh37 Chromosome 15, 68500577: 68500585
29 CLN6 NM_017882.2(CLN6): c.794_796delCCT (p.Ser265del) deletion Conflicting interpretations of pathogenicity rs768422260 GRCh38 Chromosome 15, 68208280: 68208282
30 CLN6 NM_017882.2(CLN6): c.794_796delCCT (p.Ser265del) deletion Conflicting interpretations of pathogenicity rs768422260 GRCh37 Chromosome 15, 68500618: 68500620
31 CLN6 NM_017882.2(CLN6): c.775G> C (p.Gly259Arg) single nucleotide variant Uncertain significance rs150363441 GRCh38 Chromosome 15, 68208301: 68208301
32 CLN6 NM_017882.2(CLN6): c.775G> C (p.Gly259Arg) single nucleotide variant Uncertain significance rs150363441 GRCh37 Chromosome 15, 68500639: 68500639
33 CLN6 NM_017882.2(CLN6): c.679G> A (p.Glu227Lys) single nucleotide variant Pathogenic rs746753722 GRCh38 Chromosome 15, 68208397: 68208397
34 CLN6 NM_017882.2(CLN6): c.679G> A (p.Glu227Lys) single nucleotide variant Pathogenic rs746753722 GRCh37 Chromosome 15, 68500735: 68500735
35 CLN6 NM_017882.2(CLN6): c.476C> T (p.Pro159Leu) single nucleotide variant Likely pathogenic rs919850756 GRCh38 Chromosome 15, 68211685: 68211685
36 CLN6 NM_017882.2(CLN6): c.476C> T (p.Pro159Leu) single nucleotide variant Likely pathogenic rs919850756 GRCh37 Chromosome 15, 68504023: 68504023
37 CLN6 NM_017882.2(CLN6): c.297+113G> C single nucleotide variant Likely pathogenic rs553192210 GRCh38 Chromosome 15, 68214177: 68214177
38 CLN6 NM_017882.2(CLN6): c.297+113G> C single nucleotide variant Likely pathogenic rs553192210 GRCh37 Chromosome 15, 68506515: 68506515
39 CLN6 NM_017882.2(CLN6): c.185G> A (p.Arg62His) single nucleotide variant Pathogenic rs751486476 GRCh38 Chromosome 15, 68218549: 68218549
40 CLN6 NM_017882.2(CLN6): c.185G> A (p.Arg62His) single nucleotide variant Pathogenic rs751486476 GRCh37 Chromosome 15, 68510887: 68510887

Expression for Ceroid Lipofuscinosis, Neuronal, 6

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

Pathways for Ceroid Lipofuscinosis, Neuronal, 6

GO Terms for Ceroid Lipofuscinosis, Neuronal, 6

Sources for Ceroid Lipofuscinosis, Neuronal, 6

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