MCID: CRD183
MIFTS: 51

Ceroid Lipofuscinosis, Neuronal, 2

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 2

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 2:

Name: Ceroid Lipofuscinosis, Neuronal, 2 57 75 13 73
Jansky-Bielschowsky Disease 57 53 25 59 75
Late-Infantile Neuronal Ceroid Lipofuscinosis 25 75 29 6
Lincl 25 59 75 55
Cln2 57 12 53 75
Neuronal Ceroid Lipofuscinosis 2 12 53 15
Ceroid Lipofuscinosis Neuronal 2 29 6
Cln2 Disease 25 59
Neuronal Ceroid Lipofuscinosis 2 with Variable Age at Onset 75
Ceroid Lipofuscinosis, Neuronal, 2, Variable Age at Onset 57
Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant 55
Neuronal Ceroid Lipofuscinosis 2 Variable Age at Onset 12
Neuronal Ceroid Lipofuscinosis, Late-Infantile 25
Late Infantile Neuronal Ceroid Lipofuscinosis 59
Late-Infantile Neuronal Ceroid Lipfuscinosis 73
Lipofuscinosis, Ceroid, Neuronal, Type 2 40
Late-Infantile Batten Disease 25
Cln2 Disease, Late Infantile 53
Cln2 Disease, Juvenile 53
Late Infantile Ncl 59

Characteristics:

Orphanet epidemiological data:

59
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;
cln2 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ceroid lipofuscinosis, neuronal, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ceroid Lipofuscinosis, Neuronal, 2

NIH Rare Diseases : 53 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, 7 and ceroid lipofuscinosis, neuronal, 10, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 2 is TPP1 (Tripeptidyl Peptidase 1), and among its related pathways/superpathways is Lysosome. The drugs Meclocycline and Oxytetracycline have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are retinopathy and abnormality of vision

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 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 : 75 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.

Genetics Home Reference : 25 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.

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.

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 32)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 7 30.7 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
2 ceroid lipofuscinosis, neuronal, 10 29.9 CLN3 CLN5 CLN6 CLN8 CTSD KCTD7
3 adult neuronal ceroid lipofuscinosis 29.4 CLN6 DNAJC5 PPT1 TPP1
4 ceroid lipofuscinosis, neuronal, 1 28.1 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
5 neuronal ceroid-lipofuscinoses 27.1 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
6 neuronal ceroid lipofuscinosis 25.4 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
7 ceroid lipofuscinosis, neuronal, 5 11.3
8 ceroid lipofuscinosis, neuronal, 8 11.2
9 neuronitis 10.6
10 visual pathway disease 10.3 CLN8 MFSD8
11 visual cortex disease 10.2 CLN8 MFSD8
12 lysosomal storage disease 10.1 CLN3 PPT1 TPP1
13 cerebral atrophy 10.1 CLN6 CLN8 DNAJC5
14 ceroid lipofuscinosis, neuronal, 9 10.0 CLN5 CLN6 CLN8 MFSD8
15 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.0 CLN5 CLN6 CLN8 MFSD8
16 retinitis 9.9
17 spinocerebellar ataxia 7 9.8
18 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.8
19 spinocerebellar ataxia, autosomal recessive 7 9.8
20 autosomal dominant cerebellar ataxia 9.8
21 movement disease 9.8
22 dystonia 9.8
23 retinal degeneration 9.8
24 cln4 disease 9.8
25 progressive myoclonus epilepsy 9.7 CLN6 KCTD7
26 ceroid lipofuscinosis, neuronal, 3 9.6 CLN3 CLN5 CTSD PPT1 TPP1
27 inherited metabolic disorder 9.4 CLN3 ENSG00000261832 PPT1
28 ceroid lipofuscinosis, neuronal, 13 9.1 CLN5 CLN8 CTSF DNAJC5 KCTD7
29 ceroid storage disease 9.0 CLN3 CLN5 CLN6 CLN8 DNAJC5 PPT1
30 lipid storage disease 8.4 CLN3 CLN5 CLN6 CLN8 ENSG00000261832 PPT1
31 visual epilepsy 7.4 CLN3 CLN5 CLN6 CLN8 DNAJC5 ENSG00000261832
32 ceroid lipofuscinosis, neuronal, 11 6.6 CLN3 CLN5 CLN6 CLN8 CTSD CTSF

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 2:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
2 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
3 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
4 abnormality of visual evoked potentials 59 32 hallmark (90%) Very frequent (99-80%) HP:0000649
5 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
6 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
7 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
8 cerebral atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002059
9 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
10 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
11 abdominal wall muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009023
12 abnormality of the eye 59 Very frequent (99-80%)
13 progressive visual loss 32 HP:0000529
14 retinal degeneration 32 HP:0000546
15 undetectable electroretinogram 32 HP:0000550
16 delayed speech and language development 32 HP:0000750
17 abnormal nervous system electrophysiology 32 HP:0001311
18 increased neuronal autofluorescent lipopigment 32 HP:0002074
19 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003205
20 increased extraneuronal autofluorescent lipopigment 32 HP:0003463

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 2:


ataxia, myoclonus, seizures

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 CLN3 CLN6 CLN8 CTSD CTSF DNAJC5
2 mortality/aging MP:0010768 9.9 CDC34 CDK1 CLN3 CLN6 CLN8 CTSD
3 nervous system MP:0003631 9.7 TPP1 CLN3 CLN5 CLN6 CLN8 CTSD
4 vision/eye MP:0005391 9.28 CDK1 CLN3 CLN5 CLN6 CLN8 CTSD

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 2

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Meclocycline Approved, Investigational Phase 2 2013-58-3 5480760
2
Oxytetracycline Approved, Investigational, Vet_approved Phase 2 79-57-2 5280972
3 Anti-Bacterial Agents Phase 2
4 Anti-Infective Agents Phase 2
5 calcium channel blockers Phase 2
6 Calcium, Dietary Phase 2
7
Menthol Approved Phase 1 2216-51-5 16666

Interventional clinical trials:

(show all 19)
# 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 Efficacy of SNX-1012 in the Treatment of Oral Mucositis Completed NCT00385515 Phase 2 SNX-1012 (meclocycline sulfosalicylate);placebo
3 A Phase 2 Study of CX-8998 in Adolescents and Young Adults With Generalized Epileptic Syndromes With Absence Seizures Recruiting NCT03406702 Phase 2 Placebo Comparator;CX-8998
4 A Phase 2 RCT Study of CX-8998 for Essential Tremor Recruiting NCT03101241 Phase 2 CX-8998;Placebo
5 Batten CLN6 Gene Therapy Recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
6 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
7 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01414985 Phase 1, Phase 2
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 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
19 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 29 TPP1
2 Late-Infantile Neuronal Ceroid Lipofuscinosis 29

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 2

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

41
Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 2

Articles related to Ceroid Lipofuscinosis, Neuronal, 2:

# Title Authors Year
1
Exclusion mapping of classical late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease, CLN2) ( 8556308 )
1995
2
Positron emission tomography in neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease): a case report. ( 7694995 )
1994
3
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
4
The spectrum of Jansky-Bielschowsky disease. ( 1649978 )
1991

Variations for Ceroid Lipofuscinosis, Neuronal, 2

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

75 (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
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
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
36 TPP1 p.Gln278Arg VAR_072749 rs796053439

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

6
(show top 50) (show all 75)
# 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 Pathogenic rs119455958 GRCh37 Chromosome 11, 6637921: 6637921
16 TPP1 NM_000391.3(TPP1): c.857A> G (p.Asn286Ser) single nucleotide variant Pathogenic rs119455958 GRCh38 Chromosome 11, 6616690: 6616690
17 TPP1 NM_000391.3(TPP1): c.1166G> A (p.Gly389Glu) single nucleotide variant Pathogenic rs121908199 GRCh37 Chromosome 11, 6636773: 6636773
18 TPP1 NM_000391.3(TPP1): c.1166G> A (p.Gly389Glu) single nucleotide variant Pathogenic rs121908199 GRCh38 Chromosome 11, 6615542: 6615542
19 TPP1 NM_000391.3(TPP1): c.1266G> C (p.Gln422His) single nucleotide variant Pathogenic rs121908200 GRCh37 Chromosome 11, 6636673: 6636673
20 TPP1 NM_000391.3(TPP1): c.1266G> C (p.Gln422His) single nucleotide variant Pathogenic rs121908200 GRCh38 Chromosome 11, 6615442: 6615442
21 TPP1 NM_000391.3(TPP1): c.380G> A (p.Arg127Gln) single nucleotide variant Pathogenic rs121908204 GRCh37 Chromosome 11, 6638857: 6638857
22 TPP1 NM_000391.3(TPP1): c.380G> A (p.Arg127Gln) single nucleotide variant Pathogenic rs121908204 GRCh38 Chromosome 11, 6617626: 6617626
23 TPP1 NM_000391.3(TPP1): c.605C> T (p.Pro202Leu) single nucleotide variant Likely pathogenic rs121908205 GRCh37 Chromosome 11, 6638288: 6638288
24 TPP1 NM_000391.3(TPP1): c.605C> T (p.Pro202Leu) single nucleotide variant Likely pathogenic rs121908205 GRCh38 Chromosome 11, 6617057: 6617057
25 TPP1 NM_000391.3(TPP1): c.617G> A (p.Arg206His) single nucleotide variant Likely pathogenic rs121908209 GRCh37 Chromosome 11, 6638276: 6638276
26 TPP1 NM_000391.3(TPP1): c.617G> A (p.Arg206His) single nucleotide variant Likely pathogenic rs121908209 GRCh38 Chromosome 11, 6617045: 6617045
27 TPP1 NM_000391.3(TPP1): c.1551+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786204553 GRCh38 Chromosome 11, 6614865: 6614865
28 TPP1 NM_000391.3(TPP1): c.1551+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786204553 GRCh37 Chromosome 11, 6636096: 6636096
29 TPP1 NM_000391.3(TPP1): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204753 GRCh38 Chromosome 11, 6615217: 6615217
30 TPP1 NM_000391.3(TPP1): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204753 GRCh37 Chromosome 11, 6636448: 6636448
31 TPP1 NM_000391.3(TPP1): c.972_979delCTATGGAG (p.Ser324Argfs) deletion Likely pathogenic rs778232650 GRCh38 Chromosome 11, 6616411: 6616418
32 TPP1 NM_000391.3(TPP1): c.972_979delCTATGGAG (p.Ser324Argfs) deletion Likely pathogenic rs778232650 GRCh37 Chromosome 11, 6637642: 6637649
33 TPP1 NM_000391.3(TPP1): c.1016G> A (p.Arg339Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs765380155 GRCh37 Chromosome 11, 6637605: 6637605
34 TPP1 NM_000391.3(TPP1): c.1016G> A (p.Arg339Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs765380155 GRCh38 Chromosome 11, 6616374: 6616374
35 TPP1 NM_000391.3(TPP1): c.833A> G (p.Gln278Arg) single nucleotide variant Pathogenic rs796053439 GRCh38 Chromosome 11, 6616714: 6616714
36 TPP1 NM_000391.3(TPP1): c.833A> G (p.Gln278Arg) single nucleotide variant Pathogenic rs796053439 GRCh37 Chromosome 11, 6637945: 6637945
37 TPP1 NM_000391.3(TPP1): c.1376A> C (p.Tyr459Ser) single nucleotide variant Likely pathogenic rs864309505 GRCh38 Chromosome 11, 6615220: 6615220
38 TPP1 NM_000391.3(TPP1): c.1376A> C (p.Tyr459Ser) single nucleotide variant Likely pathogenic rs864309505 GRCh37 Chromosome 11, 6636451: 6636451
39 TPP1 NM_000391.3(TPP1): c.456G> C (p.Arg152Ser) single nucleotide variant Likely pathogenic rs869025274 GRCh37 Chromosome 11, 6638584: 6638584
40 TPP1 NM_000391.3(TPP1): c.456G> C (p.Arg152Ser) single nucleotide variant Likely pathogenic rs869025274 GRCh38 Chromosome 11, 6617353: 6617353
41 TPP1 NM_000391.3(TPP1): c.457_490del34 (p.Ser153Profs) deletion Likely pathogenic rs878855331 GRCh38 Chromosome 11, 6617319: 6617352
42 TPP1 NM_000391.3(TPP1): c.457_490del34 (p.Ser153Profs) deletion Likely pathogenic rs878855331 GRCh37 Chromosome 11, 6638550: 6638583
43 TPP1 NM_000391.3(TPP1): c.471C> A (p.Tyr157Ter) single nucleotide variant Likely pathogenic rs553522118 GRCh38 Chromosome 11, 6617338: 6617338
44 TPP1 NM_000391.3(TPP1): c.471C> A (p.Tyr157Ter) single nucleotide variant Likely pathogenic rs553522118 GRCh37 Chromosome 11, 6638569: 6638569
45 TPP1 NM_000391.3(TPP1): c.938_939delAT (p.Asn313Argfs) deletion Pathogenic/Likely pathogenic rs886041487 GRCh37 Chromosome 11, 6637682: 6637683
46 TPP1 NM_000391.3(TPP1): c.938_939delAT (p.Asn313Argfs) deletion Pathogenic/Likely pathogenic rs886041487 GRCh38 Chromosome 11, 6616451: 6616452
47 TPP1 NM_000391.3(TPP1): c.1661dupC (p.Ala555Serfs) duplication Likely pathogenic rs1057516579 GRCh38 Chromosome 11, 6614577: 6614577
48 TPP1 NM_000391.3(TPP1): c.1661dupC (p.Ala555Serfs) duplication Likely pathogenic rs1057516579 GRCh37 Chromosome 11, 6635808: 6635808
49 TPP1 NM_000391.3(TPP1): c.1552-1G> A single nucleotide variant Likely pathogenic rs1057516511 GRCh38 Chromosome 11, 6614687: 6614687
50 TPP1 NM_000391.3(TPP1): c.1552-1G> A single nucleotide variant Likely pathogenic rs1057516511 GRCh37 Chromosome 11, 6635918: 6635918

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 11.26 CLN3 CLN5 CTSD CTSF MFSD8 PPT1

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 lysosomal membrane GO:0005765 9.55 CLN3 CLN5 DNAJC5 ENSG00000261832 MFSD8
2 synaptic vesicle GO:0008021 9.5 CLN3 DNAJC5 PPT1
3 melanosome GO:0042470 9.43 CTSD DNAJC5 TPP1
4 lysosomal lumen GO:0043202 9.26 CTSD CTSF PPT1 TPP1
5 lysosome GO:0005764 9.17 CLN3 CLN5 CTSD CTSF MFSD8 PPT1

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

# Name GO ID Score Top Affiliating Genes
1 lysosome organization GO:0007040 9.55 CLN3 CLN6 MFSD8 PPT1 TPP1
2 negative regulation of neuron apoptotic process GO:0043524 9.5 CLN3 DNAJC5 PPT1
3 associative learning GO:0008306 9.43 CLN3 PPT1
4 negative regulation of proteolysis GO:0045861 9.4 CLN3 CLN8
5 ceramide metabolic process GO:0006672 9.37 CLN3 CLN8
6 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
7 lysosomal lumen acidification GO:0007042 9.26 CLN3 CLN5 CLN6 PPT1
8 protein catabolic process GO:0030163 9.17 CLN3 CLN5 CLN6 CLN8 CTSD PPT1

Sources for Ceroid Lipofuscinosis, Neuronal, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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