MCID: CRD183
MIFTS: 49

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 54 71 13 69
Neuronal Ceroid Lipofuscinosis 2 12 50 24 14
Jansky-Bielschowsky Disease 50 25 56 71
Lincl 25 56 71 52
Late-Infantile Neuronal Ceroid Lipofuscinosis 25 71 29
Cln2 Disease 24 25 56
Cln2 12 50 71
Neuronal Ceroid Lipofuscinosis 2 with Variable Age at Onset 71
Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant 52
Neuronal Ceroid Lipofuscinosis 2 Variable Age at Onset 12
Neuronal Ceroid Lipofuscinosis, Late-Infantile 25
Late Infantile Neuronal Ceroid Lipofuscinosis 56
Late-Infantile Neuronal Ceroid Lipfuscinosis 69
Tpp1-Related Neuronal Ceroid-Lipofuscinosis 24
Ceroid Lipofuscinosis Neuronal 2 29
Late-Infantile Batten Disease 25
Cln2 Disease, Late Infantile 50
Cln2 Disease, Juvenile 50
Janský-Bielschowsky 24
Late Infantile Ncl 56

Characteristics:

Orphanet epidemiological data:

56
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:

54
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

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.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 2, also known as neuronal ceroid lipofuscinosis 2, is related to ceroid lipofuscinosis, neuronal, 1 and ceroid lipofuscinosis, neuronal, 5, and has symptoms including myoclonus, ataxia and cerebral atrophy. 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 behavior/neurological and nervous system

NIH Rare Diseases : 50 neuronal ceroid lipofuscinosis 2 (cln2-ncl) is a rare condition that affects the nervous system. signs and symptoms of the condition generally develop between ages two and four 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, developmental delay, and intellectual disability. cln2-ncl is caused by changes (mutations) in the tpp1 gene and is inherited in anĀ autosomal recessive manner. treatment options are limited to therapies that can help relieve some of the symptoms. last updated: 8/31/2015

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

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, 1 Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 2 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 6 Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 11 Ceroid Lipofuscinosis, Neuronal, 9
Neuronal Ceroid Lipofuscinosis 4a Adult Neuronal Ceroid Lipofuscinosis

Diseases related to Ceroid Lipofuscinosis, Neuronal, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
id Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 1 26.3 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
2 ceroid lipofuscinosis, neuronal, 5 11.2
3 ceroid lipofuscinosis, neuronal, 7 11.1
4 ceroid lipofuscinosis, neuronal, 8 11.1
5 cngb3-related stargardt disease 1 10.2 CLN6 DNAJC5
6 congenital vascular cavernous malformations 10.2 CLN6 DNAJC5
7 blessig's cysts 10.2 CLN3 CLN5
8 neuronal ceroid lipofuscinosis 10.1
9 neuronitis 10.1
10 leukoplakia of vagina 10.0 CLN6 KCTD7
11 spinocerebellar ataxia 7 10.0
12 ataxia 10.0
13 malignant glioma 9.9 CLN3 PPT1 TPP1
14 urinary schistosomiasis 9.9 CLN6 CLN8 MFSD8
15 mannosidosis, beta 9.9 CLN3 PPT1
16 esophagus liposarcoma 9.8 CLN6 CLN8 MFSD8
17 adult-onset nemaline myopathy 9.7 CLN6 DNAJC5 PPT1 TPP1
18 microcephaly 1, primary, autosomal recessive 9.6 CLN5 CLN6 CLN8 MFSD8
19 uterine corpus cancer 9.5 CLN3 CLN5 CLN6 PPT1 TPP1
20 retinal degeneration, late-onset, autosomal dominant 9.4 CLN6 CLN8 DNAJC5 KCTD7
21 diarrhea, chronic, with villous atrophy 9.2 CLN5 CLN6 CLN8 DNAJC5 MFSD8
22 joubert syndrome 26 9.2 CLN3 CLN5 CLN6 CTSD PPT1 TPP1
23 mental retardation, autosomal dominant 24 9.0 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
24 macular dystrophy with central cone involvement 8.9 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
25 glans penis cancer 8.3 CLN5 CLN6 CLN8 DNAJC5 KCTD7 MFSD8
26 glanzmann thrombasthenia 7.6 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
27 kashin-beck disease 7.4 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
28 partial arterial retinal occlusion 7.4 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
29 spinocerebellar ataxia, autosomal recessive 7 5.9 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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
myoclonus
ataxia
speech and language difficulties
cerebral atrophy
seizures
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:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 56 32 hallmark (90%) Very frequent (99-80%) HP:0001336
2 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 cerebral atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0002059
4 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
5 developmental regression 56 32 hallmark (90%) Very frequent (99-80%) HP:0002376
6 retinopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000488
7 abnormal electroretinogram 56 32 hallmark (90%) Very frequent (99-80%) HP:0000512
8 eeg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0002353
9 abnormality of visual evoked potentials 56 32 hallmark (90%) Very frequent (99-80%) HP:0000649
10 abnormality of vision 56 32 hallmark (90%) Very frequent (99-80%) HP:0000504
11 abdominal wall muscle weakness 56 32 hallmark (90%) Very frequent (99-80%) HP:0009023
12 progressive visual loss 32 HP:0000529
13 retinal degeneration 32 HP:0000546
14 delayed speech and language development 32 HP:0000750
15 abnormality of the eye 56 Very frequent (99-80%)
16 increased neuronal autofluorescent lipopigment 32 HP:0002074
17 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003205
18 undetectable electroretinogram 32 HP:0000550
19 increased extraneuronal autofluorescent lipopigment 32 HP:0003463
20 abnormal nervous system electrophysiology 32 HP:0001311

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 2:


ataxia, myoclonus, seizures

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 CLN3 CLN6 CLN8 CTSD DNAJC5 MFSD8
2 nervous system MP:0003631 9.65 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
3 vision/eye MP:0005391 9.23 PPT1 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 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Meclocycline Approved Phase 2 2013-58-3 5480760
2
Oxytetracycline Approved, Vet_approved Phase 2 79-57-2 5280972
3
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
4
Mycophenolic acid Approved Phase 2 24280-93-1 446541
5
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
6 Anti-Bacterial Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Antibiotics, Antitubercular Phase 2
9 Immunosuppressive Agents Phase 2
10 calcium channel blockers Phase 2
11 Calcium, Dietary Phase 2
12
Menthol Approved Phase 1 2216-51-5 16666

Interventional clinical trials:

(show all 14)

id 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 Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis Completed NCT01399047 Phase 2 Mycophenolate mofetil;Liquid Placebo
4 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Recruiting NCT01414985 Phase 1, Phase 2
5 A Phase 2 RCT Study of CX-8998 for Essential Tremor Recruiting NCT03101241 Phase 2 CX-8998
6 Batten CLN6 Gene Therapy Recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
7 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
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 BMN190 recombinant human tripeptidyl peptidase-1 (rhTPP1)
9 Study of SNX-5422 in TP53 Null Cancers Terminated NCT02612285 Phase 2 SNX-5422
10 Safety and Efficacy of a Single Dose of a Polyphenol-enriched Brown Seaweed Powder in Human Completed NCT00936754 Phase 1
11 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Recruiting NCT01161576 Phase 1
12 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
13 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)
14 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:

id Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 2 29
2 Late-Infantile Neuronal Ceroid Lipofuscinosis 29
3 Cln2 Disease 24 TPP1

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 2

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

39
Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 2

Variations for Ceroid Lipofuscinosis, Neuronal, 2

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

71 (show all 36)
id 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 all 31)
id 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.1094G> A (p.Cys365Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs119455954 GRCh37 Chromosome 11, 6637287: 6637287
3 TPP1 NM_000391.3(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 GRCh37 Chromosome 11, 6638271: 6638271
4 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh37 Chromosome 11, 6638385: 6638385
5 TPP1 NM_000391.3(TPP1): c.1340G> A (p.Arg447His) single nucleotide variant Pathogenic rs119455956 GRCh37 Chromosome 11, 6636487: 6636487
6 TPP1 NM_000391.3(TPP1): c.616C> T (p.Arg206Cys) single nucleotide variant Pathogenic rs28940573 GRCh37 Chromosome 11, 6638277: 6638277
7 TPP1 NM_000391.3(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 GRCh37 Chromosome 11, 6637927: 6637927
8 TPP1 NM_000391.3(TPP1): c.857A> G (p.Asn286Ser) single nucleotide variant Pathogenic rs119455958 GRCh37 Chromosome 11, 6637921: 6637921
9 TPP1 NM_000391.3(TPP1): c.1266G> C (p.Gln422His) single nucleotide variant Pathogenic rs121908200 GRCh37 Chromosome 11, 6636673: 6636673
10 TPP1 NM_000391.3(TPP1): c.380G> A (p.Arg127Gln) single nucleotide variant Pathogenic rs121908204 GRCh37 Chromosome 11, 6638857: 6638857
11 TPP1 NM_000391.3(TPP1): c.605C> T (p.Pro202Leu) single nucleotide variant Likely pathogenic rs121908205 GRCh37 Chromosome 11, 6638288: 6638288
12 TPP1 NM_000391.3(TPP1): c.1551+1G> A single nucleotide variant Likely pathogenic rs786204553 GRCh38 Chromosome 11, 6614865: 6614865
13 TPP1 NM_000391.3(TPP1): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204753 GRCh38 Chromosome 11, 6615217: 6615217
14 TPP1 NM_000391.3(TPP1): c.972_979delCTATGGAG (p.Ser324Argfs) deletion Likely pathogenic rs778232650 GRCh38 Chromosome 11, 6616411: 6616418
15 TPP1 NM_000391.3(TPP1): c.833A> G (p.Gln278Arg) single nucleotide variant Pathogenic rs796053439 GRCh37 Chromosome 11, 6637945: 6637945
16 TPP1 NM_000391.3(TPP1): c.1376A> C (p.Tyr459Ser) single nucleotide variant Likely pathogenic rs864309505 GRCh38 Chromosome 11, 6615220: 6615220
17 TPP1 NM_000391.3(TPP1): c.456G> C (p.Arg152Ser) single nucleotide variant Likely pathogenic rs869025274 GRCh37 Chromosome 11, 6638584: 6638584
18 TPP1 NM_000391.3(TPP1): c.457_490del34 (p.Ser153Profs) deletion Likely pathogenic rs878855331 GRCh38 Chromosome 11, 6617319: 6617352
19 TPP1 NM_000391.3(TPP1): c.471C> A (p.Tyr157Ter) single nucleotide variant Likely pathogenic rs553522118 GRCh38 Chromosome 11, 6617338: 6617338
20 TPP1 NM_000391.3(TPP1): c.938_939delAT (p.Asn313Argfs) deletion Pathogenic/Likely pathogenic rs886041487 GRCh37 Chromosome 11, 6637682: 6637683
21 TPP1 NM_000391.3(TPP1): c.687+2T> G single nucleotide variant Likely pathogenic rs1057516945 GRCh38 Chromosome 11, 6616973: 6616973
22 TPP1 NM_000391.3(TPP1): c.1661dupC (p.Ala555Serfs) duplication Likely pathogenic rs1057516579 GRCh38 Chromosome 11, 6614577: 6614577
23 TPP1 NM_000391.3(TPP1): c.1552-1G> A single nucleotide variant Likely pathogenic rs1057516511 GRCh38 Chromosome 11, 6614687: 6614687
24 TPP1 NM_000391.3(TPP1): c.1551+1G> C single nucleotide variant Likely pathogenic rs786204553 GRCh38 Chromosome 11, 6614865: 6614865
25 TPP1 NM_000391.3(TPP1): c.1449dupG (p.Ile484Aspfs) duplication Likely pathogenic rs1057516264 GRCh37 Chromosome 11, 6636199: 6636199
26 TPP1 NM_000391.3(TPP1): c.1259C> A (p.Ser420Ter) single nucleotide variant Likely pathogenic rs1057516319 GRCh38 Chromosome 11, 6615449: 6615449
27 TPP1 NM_000391.3(TPP1): c.1145+1G> A single nucleotide variant Likely pathogenic rs113019349 GRCh38 Chromosome 11, 6616004: 6616004
28 TPP1 NM_000391.3(TPP1): c.819delC (p.Ser274Valfs) deletion Likely pathogenic rs1057517313 GRCh37 Chromosome 11, 6637959: 6637959
29 TPP1 NM_000391.3(TPP1): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs752164603 GRCh38 Chromosome 11, 6617022: 6617022
30 TPP1 NM_000391.3(TPP1): c.609dupT (p.Val204Cysfs) duplication Likely pathogenic rs1057516366 GRCh37 Chromosome 11, 6638284: 6638284
31 TPP1 NM_000391.3(TPP1): c.230-1G> C single nucleotide variant Likely pathogenic rs1057516667 GRCh38 Chromosome 11, 6617777: 6617777

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:

id 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:

id 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:

id 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 neurotransmitter secretion GO:0007269 9.48 DNAJC5 PPT1
4 neuromuscular process controlling balance GO:0050885 9.46 CLN3 TPP1
5 associative learning GO:0008306 9.43 CLN3 PPT1
6 negative regulation of proteolysis GO:0045861 9.4 CLN3 CLN8
7 ceramide metabolic process GO:0006672 9.37 CLN3 CLN8
8 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
9 lysosomal lumen acidification GO:0007042 9.26 CLN3 CLN5 CLN6 PPT1
10 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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