CLN2
MCID: CRD183
MIFTS: 52

Ceroid Lipofuscinosis, Neuronal, 2 (CLN2)

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 2

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 2:

Name: Ceroid Lipofuscinosis, Neuronal, 2 58 76 13 74
Jansky-Bielschowsky Disease 58 77 54 26 76 38
Cln2 58 12 54 76
Neuronal Ceroid Lipofuscinosis 2 12 54 15
Lincl 26 76 56
Late-Infantile Neuronal Ceroid Lipofuscinosis 26 76
Ceroid Lipofuscinosis Neuronal 2 30 6
Cln2 Disease 26 60
Neuronal Ceroid Lipofuscinosis 2 with Variable Age at Onset 76
Ceroid Lipofuscinosis, Neuronal, 2, Variable Age at Onset 58
Neuronal Ceroid Lipofuscinosis 2 Variable Age at Onset 12
Neuronal Ceroid Lipofuscinosis, Late-Infantile 26
Late-Infantile Neuronal Ceroid Lipfuscinosis 74
Lipofuscinosis, Ceroid, Neuronal, Type 2 41
Late-Infantile Batten Disease 26
Cln2 Disease, Late Infantile 54
Cln2 Disease, Juvenile 54

Characteristics:

Orphanet epidemiological data:

60
cln2 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at 2 to 4 years
death at 10 to 15 years


HPO:

33
ceroid lipofuscinosis, neuronal, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110726
OMIM 58 204500
KEGG 38 H02278
MeSH 45 D009472
ICD10 34 E75.4
ICD10 via Orphanet 35 E75.4
UMLS via Orphanet 75 C1876161
Orphanet 60 ORPHA228349

Summaries for Ceroid Lipofuscinosis, Neuronal, 2

NIH Rare Diseases : 54 Neuronal ceroid lipofuscinosis 2 (CLN2) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Symptoms of the CLN2 generally develop between ages two and four years, although later onset cases have been reported. Children with CLN2 may experience speech delay, seizures that do not respond to medications, loss of muscle coordination (ataxia), muscle twitches (myoclonus), loss of vision, developmental delay, and intellectual disability. Symptoms of CLN2 worsen as the child gets older (progressive). CLN2 is caused by changes (pathogenic variations) in the TPP1 gene and is inherited in an autosomal recessive manner. Although there is no medication that can currently cure CLN2, in the Spring of 2017 both the United States Food and Drug Administration (FDA) and the European Commission approved the use of cerliponase alfa (brand name: Brineura) for children with CLN2. In clinical studies, cerliponase alfa was shown to slow down the progression of the disease. In addition, other medications and therapies can help relieve some of the symptoms of CLN2.Please note: Batten disease originally referred specifically to the juvenile and most common form of NCL, now known as CLN3. However, the term Batten disease is increasingly used to describe all forms of NCL. All types of NCL also belong to a larger group of diseases known as lysosomal storage disorders.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 2, also known as jansky-bielschowsky disease, is related to ceroid lipofuscinosis, neuronal, 10 and lysosomal storage disease, and has symptoms including seizures, ataxia and myoclonus. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 2 is TPP1 (Tripeptidyl Peptidase 1), and among its related pathways/superpathways is Lysosome. The drugs Oxytetracycline and Calcium have been mentioned in the context of this disorder. Affiliated tissues include eye, cortex and testes, and related phenotypes are seizures and ataxia

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has material basis in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.

Genetics Home Reference : 26 CLN2 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), intellectual disability that gradually gets worse, and behavioral problems. Individuals with this condition often require the use of a wheelchair by late childhood and typically do not survive past their teens.

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 clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (204500)

UniProtKB/Swiss-Prot : 76 Ceroid lipofuscinosis, neuronal, 2: 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 pattern seen most often in CLN2 consists of curvilinear profiles.

Wikipedia : 77 Jansky–Bielschowsky disease is an extremely rare autosomal recessive genetic disorder that is part of... more...

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 2

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 10 30.6 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
2 lysosomal storage disease 30.4 CLN3 PPT1 TPP1
3 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 30.2 CLN5 CLN6 CLN8 MFSD8
4 ceroid lipofuscinosis, neuronal, 7 29.8 CLN3 CLN5 CLN6 CLN8 DNAJC5 MFSD8
5 ceroid lipofuscinosis, neuronal, 3 29.6 CLN3 CLN5 CLN6 CTSD PPT1 TPP1
6 adult neuronal ceroid lipofuscinosis 29.5 CLN6 DNAJC5 PPT1 TPP1
7 ceroid lipofuscinosis, neuronal, 1 29.0 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
8 neuronal ceroid lipofuscinosis 28.6 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
9 neuronal ceroid-lipofuscinoses 28.4 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
10 ceroid lipofuscinosis, neuronal, 6 11.5
11 ceroid lipofuscinosis, neuronal, 8 10.7
12 aging 10.3
13 macular dystrophy with central cone involvement 10.3
14 choreatic disease 10.3
15 epilepsy 10.3
16 heparin-induced thrombocytopenia 10.3
17 precocious puberty 10.3
18 ceroid lipofuscinosis, neuronal, 5 10.3
19 spinocerebellar ataxia 7 10.0
20 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 10.0
21 ataxia and polyneuropathy, adult-onset 10.0
22 spinocerebellar ataxia, autosomal recessive 7 10.0
23 autosomal dominant cerebellar ataxia 10.0
24 dystonia 10.0
25 retinal degeneration 10.0
26 cln4 disease 10.0
27 visual cortex disease 9.9 CLN8 MFSD8
28 visual pathway disease 9.9 CLN8 MFSD8
29 progressive myoclonus epilepsy 9.9 CLN6 KCTD7
30 inherited metabolic disorder 9.9 CLN3 PPT1
31 cerebral atrophy 9.8 CLN6 CTSD DNAJC5
32 ceroid lipofuscinosis, neuronal, 9 9.7 CLN5 CLN6 CLN8 DNAJC5
33 ceroid lipofuscinosis, neuronal, 13 9.6 CLN5 CLN8 DNAJC5 KCTD7
34 lipid storage disease 9.4 CLN3 CLN5 CLN6 CLN8 PPT1 TPP1
35 ceroid storage disease 9.1 CLN3 CLN5 CLN6 CLN8 DNAJC5 PPT1
36 ceroid lipofuscinosis, neuronal, 11 8.4 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 2:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 2

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 2

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 2:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 ataxia 33 HP:0001251
3 developmental regression 33 HP:0002376
4 delayed speech and language development 33 HP:0000750
5 progressive visual loss 33 HP:0000529
6 myoclonus 33 HP:0001336
7 cerebral atrophy 33 HP:0002059
8 retinal degeneration 33 HP:0000546
9 increased neuronal autofluorescent lipopigment 33 HP:0002074
10 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003205
11 undetectable electroretinogram 33 HP:0000550
12 increased extraneuronal autofluorescent lipopigment 33 HP:0003463
13 abnormal nervous system electrophysiology 33 HP:0001311

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
myoclonus
cerebral atrophy
autofluorescent lipopigment in neurons
more
Laboratory Abnormalities:
lipopigment in extraneuronal cells
'curvilinear profiles' ultrastructurally

Head And Neck Eyes:
retinal degeneration
vision loss, progressive
abolished electroretinogram (erg)

Clinical features from OMIM:

204500

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 2:


seizures, ataxia, myoclonus

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.92 CLN3 CLN6 CLN8 CTSD DNAJC5 MFSD8
2 mortality/aging MP:0010768 9.86 CLN3 CLN6 CLN8 CTSD DNAJC5 FLI1
3 nervous system MP:0003631 9.65 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
4 muscle MP:0005369 9.55 DNAJC5 FLI1 MFSD8 PPT1 TPP1
5 vision/eye MP:0005391 9.23 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 2

Drugs for Ceroid Lipofuscinosis, Neuronal, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxytetracycline Approved, Investigational, Vet_approved Phase 2 79-57-2 54715139 5280972
2
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
3
Meclocycline Experimental, Investigational Phase 2 2013-58-3 5480760
4 calcium channel blockers Phase 2
5 Calcium, Dietary Phase 2
6 Anti-Bacterial Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Hormones Phase 2

Interventional clinical trials:

(show all 21)
# 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 (CLN2) Disease Completed NCT01907087 Phase 1, Phase 2
2 A Phase 2 RCT Study of CX-8998 for Essential Tremor Completed NCT03101241 Phase 2 CX-8998;Placebo
3 Efficacy of SNX-1012 in the Treatment of Oral Mucositis Completed NCT00385515 Phase 2 SNX-1012 (meclocycline sulfosalicylate);placebo
4 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Active, not recruiting NCT02485899 Phase 1, Phase 2
5 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01414985 Phase 1, Phase 2
6 A Phase 2 Study of CX-8998 in Adolescents and Adults With Idiopathic Generalized Epilepsy With Absence Seizures Active, not recruiting NCT03406702 Phase 2 CX-8998
7 Batten CLN6 Gene Therapy Active, not recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
8 A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Enrolling by invitation NCT02678689 Phase 2
9 A Phase 2 Study of CX-8998 in Adults With Tremor Associated With Parkinson's Disease Not yet recruiting NCT03436953 Phase 2 CX-8998;Placebo
10 Study of SNX-5422 in TP53 Null Cancers Terminated NCT02612285 Phase 2 SNX-5422
11 Safety and Efficacy of a Single Dose of a Polyphenol-enriched Brown Seaweed Powder in Human Completed NCT00936754 Phase 1
12 Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) Completed NCT00337636 Phase 1 Medication to suppress the immune system
13 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
14 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
15 Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
16 A Multicenter, Multi-national Open-label Program to Provide BMN 190 to Patients Diagnosed With CLN2 Disease Approved for marketing NCT02963350 BMN190, recombinant human tripeptidyl peptidase-1 (rhTPP1)
17 Genotype - Phenotype Correlations of LINCL Completed NCT00151268
18 Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease Recruiting NCT03862274
19 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
20 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
21 Collection of Cerebrospinal Fluid in Healthy Children Terminated NCT01698229

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 2

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 2

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 2:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 2 30 TPP1

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 2

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 2:

42
Eye, Cortex, Testes

Publications for Ceroid Lipofuscinosis, Neuronal, 2

Articles related to Ceroid Lipofuscinosis, Neuronal, 2:

(show all 19)
# Title Authors Year
1
TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia. ( 26224725 )
2015
2
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). ( 23418007 )
2013
3
Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function. ( 24015292 )
2013
4
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. ( 18684116 )
2008
5
CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype. ( 17959406 )
2008
6
A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15. ( 15520412 )
2004
7
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity. ( 14736728 )
2004
8
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. ( 12376936 )
2002
9
Anesthetic management for a patient with Jansky-Bielschowsky disease. ( 11782333 )
2002
10
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles. ( 12414822 )
2002
11
Prenatal testing for late infantile neuronal ceroid lipofuscinosis. ( 10665500 )
2000
12
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. ( 10330339 )
1999
13
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. ( 9295267 )
1997
14
Exclusion mapping of classical late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease, CLN2) ( 8556308 )
1995
15
Positron emission tomography in neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease): a case report. ( 7694995 )
1994
16
Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes. ( 8213822 )
1993
17
Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky-Bielschowsky disease: diagnostic criteria and nomenclature. ( 8411967 )
1993
18
The spectrum of Jansky-Bielschowsky disease. ( 1649978 )
1991
19
A variant of Jansky-Bielschowsky disease. ( 7133332 )
1982

Variations for Ceroid Lipofuscinosis, Neuronal, 2

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 2:

76 (show all 36)
# Symbol AA change Variation ID SNP ID
1 TPP1 p.Cys365Arg VAR_005643 rs119455953
2 TPP1 p.Cys365Tyr VAR_005644 rs119455954
3 TPP1 p.Arg447His VAR_005645 rs119455956
4 TPP1 p.Gly77Arg VAR_009603 rs121908195
5 TPP1 p.Arg206Cys VAR_009605 rs28940573
6 TPP1 p.Ile287Asn VAR_009606 rs121908196
7 TPP1 p.Glu343Lys VAR_009607 rs121908197
8 TPP1 p.Val385Asp VAR_009608 rs121908198
9 TPP1 p.Gly389Glu VAR_009609 rs121908199
10 TPP1 p.Gln422His VAR_009610 rs121908200
11 TPP1 p.Ala454Glu VAR_009611 rs121908201
12 TPP1 p.Ser475Leu VAR_009612 rs121908202
13 TPP1 p.Arg127Gln VAR_016790 rs121908204
14 TPP1 p.Ser153Pro VAR_016791
15 TPP1 p.Arg206His VAR_016792 rs121908209
16 TPP1 p.Val277Met VAR_016793 rs121908207
17 TPP1 p.Gln278Pro VAR_016794 rs796053439
18 TPP1 p.Gly284Val VAR_016795 rs119455957
19 TPP1 p.Asn286Ser VAR_016796 rs119455958
20 TPP1 p.Thr353Pro VAR_016797 rs121908206
21 TPP1 p.Lys428Asn VAR_016798
22 TPP1 p.Gly473Arg VAR_016799 rs121908203
23 TPP1 p.Phe481Cys VAR_016800
24 TPP1 p.Gly482Arg VAR_058435 rs121908208
25 TPP1 p.Pro202Leu VAR_063640 rs121908205
26 TPP1 p.Pro544Ser VAR_063641 rs121908210
27 TPP1 p.Ser62Thr VAR_066883
28 TPP1 p.Tyr209His VAR_066884 rs121867862
29 TPP1 p.Arg266Gln VAR_066885 rs757953998
30 TPP1 p.Arg339Gln VAR_066886 rs765380155
31 TPP1 p.Ser382Arg VAR_066887
32 TPP1 p.Ala448Val VAR_066888
33 TPP1 p.Gly501Cys VAR_066889
34 TPP1 p.Asn504Tyr VAR_066890
35 TPP1 p.Trp548Arg VAR_066891 rs134896726
36 TPP1 p.Gln278Arg VAR_072749 rs796053439

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 2:

6 (show top 50) (show all 190)
# Gene Variation Type Significance SNP ID Assembly Location
1 TPP1 NM_000391.3(TPP1): c.1093T> C (p.Cys365Arg) single nucleotide variant Pathogenic rs119455953 GRCh37 Chromosome 11, 6637288: 6637288
2 TPP1 NM_000391.3(TPP1): c.1093T> C (p.Cys365Arg) single nucleotide variant Pathogenic rs119455953 GRCh38 Chromosome 11, 6616057: 6616057
3 TPP1 NM_000391.3(TPP1): c.1094G> A (p.Cys365Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs119455954 GRCh37 Chromosome 11, 6637287: 6637287
4 TPP1 NM_000391.3(TPP1): c.1094G> A (p.Cys365Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs119455954 GRCh38 Chromosome 11, 6616056: 6616056
5 TPP1 NM_000391.3(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 GRCh37 Chromosome 11, 6638271: 6638271
6 TPP1 NM_000391.3(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 GRCh38 Chromosome 11, 6617040: 6617040
7 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh37 Chromosome 11, 6638385: 6638385
8 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh38 Chromosome 11, 6617154: 6617154
9 TPP1 NM_000391.3(TPP1): c.1340G> A (p.Arg447His) single nucleotide variant Pathogenic rs119455956 GRCh37 Chromosome 11, 6636487: 6636487
10 TPP1 NM_000391.3(TPP1): c.1340G> A (p.Arg447His) single nucleotide variant Pathogenic rs119455956 GRCh38 Chromosome 11, 6615256: 6615256
11 TPP1 NM_000391.3(TPP1): c.616C> T (p.Arg206Cys) single nucleotide variant Pathogenic rs28940573 GRCh37 Chromosome 11, 6638277: 6638277
12 TPP1 NM_000391.3(TPP1): c.616C> T (p.Arg206Cys) single nucleotide variant Pathogenic rs28940573 GRCh38 Chromosome 11, 6617046: 6617046
13 TPP1 NM_000391.3(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 GRCh37 Chromosome 11, 6637927: 6637927
14 TPP1 NM_000391.3(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 GRCh38 Chromosome 11, 6616696: 6616696
15 TPP1 NM_000391.3(TPP1): c.857A> G (p.Asn286Ser) single nucleotide variant Likely pathogenic rs119455958 GRCh37 Chromosome 11, 6637921: 6637921
16 TPP1 NM_000391.3(TPP1): c.857A> G (p.Asn286Ser) single nucleotide variant Likely pathogenic rs119455958 GRCh38 Chromosome 11, 6616690: 6616690
17 TPP1 NM_000391.3(TPP1): c.887-10A> G single nucleotide variant Uncertain significance rs755445790 GRCh38 Chromosome 11, 6616513: 6616513
18 TPP1 NM_000391.3(TPP1): c.887-10A> G single nucleotide variant Uncertain significance rs755445790 GRCh37 Chromosome 11, 6637744: 6637744
19 TPP1 NM_000391.3(TPP1): c.1027G> A (p.Glu343Lys) single nucleotide variant not provided rs121908197 GRCh37 Chromosome 11, 6637594: 6637594
20 TPP1 NM_000391.3(TPP1): c.1027G> A (p.Glu343Lys) single nucleotide variant not provided rs121908197 GRCh38 Chromosome 11, 6616363: 6616363
21 TPP1 NM_000391.3(TPP1): c.1057A> C (p.Thr353Pro) single nucleotide variant not provided rs121908206 GRCh37 Chromosome 11, 6637564: 6637564
22 TPP1 NM_000391.3(TPP1): c.1057A> C (p.Thr353Pro) single nucleotide variant not provided rs121908206 GRCh38 Chromosome 11, 6616333: 6616333
23 TPP1 NM_000391.3(TPP1): c.1154T> A (p.Val385Asp) single nucleotide variant not provided rs121908198 GRCh37 Chromosome 11, 6636785: 6636785
24 TPP1 NM_000391.3(TPP1): c.1154T> A (p.Val385Asp) single nucleotide variant not provided rs121908198 GRCh38 Chromosome 11, 6615554: 6615554
25 TPP1 NM_000391.3(TPP1): c.1166G> A (p.Gly389Glu) single nucleotide variant Pathogenic rs121908199 GRCh37 Chromosome 11, 6636773: 6636773
26 TPP1 NM_000391.3(TPP1): c.1166G> A (p.Gly389Glu) single nucleotide variant Pathogenic rs121908199 GRCh38 Chromosome 11, 6615542: 6615542
27 TPP1 NM_000391.3(TPP1): c.1266G> C (p.Gln422His) single nucleotide variant Pathogenic rs121908200 GRCh37 Chromosome 11, 6636673: 6636673
28 TPP1 NM_000391.3(TPP1): c.1266G> C (p.Gln422His) single nucleotide variant Pathogenic rs121908200 GRCh38 Chromosome 11, 6615442: 6615442
29 TPP1 NM_000391.3(TPP1): c.1361C> A (p.Ala454Glu) single nucleotide variant not provided rs121908201 GRCh37 Chromosome 11, 6636466: 6636466
30 TPP1 NM_000391.3(TPP1): c.1361C> A (p.Ala454Glu) single nucleotide variant not provided rs121908201 GRCh38 Chromosome 11, 6615235: 6615235
31 TPP1 NM_000391.3(TPP1): c.1417G> A (p.Gly473Arg) single nucleotide variant not provided rs121908203 GRCh37 Chromosome 11, 6636410: 6636410
32 TPP1 NM_000391.3(TPP1): c.1417G> A (p.Gly473Arg) single nucleotide variant not provided rs121908203 GRCh38 Chromosome 11, 6615179: 6615179
33 TPP1 NM_000391.3(TPP1): c.1424C> T (p.Ser475Leu) single nucleotide variant Likely pathogenic rs121908202 GRCh37 Chromosome 11, 6636403: 6636403
34 TPP1 NM_000391.3(TPP1): c.1424C> T (p.Ser475Leu) single nucleotide variant Likely pathogenic rs121908202 GRCh38 Chromosome 11, 6615172: 6615172
35 TPP1 NM_000391.3(TPP1): c.1444G> C (p.Gly482Arg) single nucleotide variant not provided rs121908208 GRCh37 Chromosome 11, 6636204: 6636204
36 TPP1 NM_000391.3(TPP1): c.1444G> C (p.Gly482Arg) single nucleotide variant not provided rs121908208 GRCh38 Chromosome 11, 6614973: 6614973
37 TPP1 NM_000391.3(TPP1): c.1630C> T (p.Pro544Ser) single nucleotide variant not provided rs121908210 GRCh37 Chromosome 11, 6635839: 6635839
38 TPP1 NM_000391.3(TPP1): c.1630C> T (p.Pro544Ser) single nucleotide variant not provided rs121908210 GRCh38 Chromosome 11, 6614608: 6614608
39 TPP1 NM_000391.3(TPP1): c.229G> A (p.Gly77Arg) single nucleotide variant not provided rs121908195 GRCh37 Chromosome 11, 6640007: 6640007
40 TPP1 NM_000391.3(TPP1): c.229G> A (p.Gly77Arg) single nucleotide variant not provided rs121908195 GRCh38 Chromosome 11, 6618776: 6618776
41 TPP1 NM_000391.3(TPP1): c.380G> A (p.Arg127Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908204 GRCh37 Chromosome 11, 6638857: 6638857
42 TPP1 NM_000391.3(TPP1): c.380G> A (p.Arg127Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908204 GRCh38 Chromosome 11, 6617626: 6617626
43 TPP1 NM_000391.3(TPP1): c.605C> T (p.Pro202Leu) single nucleotide variant Likely pathogenic rs121908205 GRCh37 Chromosome 11, 6638288: 6638288
44 TPP1 NM_000391.3(TPP1): c.605C> T (p.Pro202Leu) single nucleotide variant Likely pathogenic rs121908205 GRCh38 Chromosome 11, 6617057: 6617057
45 TPP1 NM_000391.3(TPP1): c.617G> A (p.Arg206His) single nucleotide variant Likely pathogenic rs121908209 GRCh37 Chromosome 11, 6638276: 6638276
46 TPP1 NM_000391.3(TPP1): c.617G> A (p.Arg206His) single nucleotide variant Likely pathogenic rs121908209 GRCh38 Chromosome 11, 6617045: 6617045
47 TPP1 NM_000391.3(TPP1): c.829G> A (p.Val277Met) single nucleotide variant not provided rs121908207 GRCh37 Chromosome 11, 6637949: 6637949
48 TPP1 NM_000391.3(TPP1): c.829G> A (p.Val277Met) single nucleotide variant not provided rs121908207 GRCh38 Chromosome 11, 6616718: 6616718
49 TPP1 NM_000391.3(TPP1): c.860T> A (p.Ile287Asn) single nucleotide variant not provided rs121908196 GRCh37 Chromosome 11, 6637918: 6637918
50 TPP1 NM_000391.3(TPP1): c.860T> A (p.Ile287Asn) single nucleotide variant not provided rs121908196 GRCh38 Chromosome 11, 6616687: 6616687

Expression for Ceroid Lipofuscinosis, Neuronal, 2

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 2.

Pathways for Ceroid Lipofuscinosis, Neuronal, 2

Pathways related to Ceroid Lipofuscinosis, Neuronal, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.19 CLN3 CLN5 CTSD MFSD8 PPT1 TPP1

GO Terms for Ceroid Lipofuscinosis, Neuronal, 2

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.54 CLN3 CTSD PPT1
2 synaptic vesicle GO:0008021 9.5 CLN3 DNAJC5 PPT1
3 melanosome GO:0042470 9.43 CTSD DNAJC5 TPP1
4 lysosomal lumen GO:0043202 9.33 CTSD PPT1 TPP1
5 lysosomal membrane GO:0005765 9.26 CLN3 CLN5 DNAJC5 MFSD8
6 lysosome GO:0005764 9.1 CLN3 CLN5 CTSD MFSD8 PPT1 TPP1

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.58 CLN3 DNAJC5 PPT1
2 neuron development GO:0048666 9.52 MFSD8 PPT1
3 visual perception GO:0007601 9.49 CLN6 PPT1
4 negative regulation of proteolysis GO:0045861 9.48 CLN3 CLN8
5 ceramide metabolic process GO:0006672 9.46 CLN3 CLN8
6 lysosomal lumen acidification GO:0007042 9.46 CLN3 CLN5 CLN6 PPT1
7 neuromuscular process controlling balance GO:0050885 9.37 CLN3 TPP1
8 lysosome organization GO:0007040 9.35 CLN3 CLN6 MFSD8 PPT1 TPP1
9 associative learning GO:0008306 9.32 CLN3 PPT1
10 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
11 adult locomotory behavior GO:0008344 9.21 PPT1
12 protein catabolic process GO:0030163 9.17 CLN3 CLN5 CLN6 CLN8 CTSD PPT1
13 cellular protein catabolic process GO:0044257 9.13 PPT1

Sources for Ceroid Lipofuscinosis, Neuronal, 2

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
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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
Content
Loading form....