MCID: CRD183
MIFTS: 32

Ceroid Lipofuscinosis, Neuronal, 2 malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Summaries for Ceroid Lipofuscinosis, Neuronal, 2

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NIH Rare Diseases:41 Ceroid lipofuscinosis, neuronal 2 (cln2) / late infantile neuronal ceroid lipofuscinosis (lincl) / jansky-bielschowsky / late infantile cln2/tpp1 disorder is part of a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (ncls). the ncls are characterized by an abnormal accumulation of lipopigments, which are substances made up of fats and proteins within the brain’s nerve cells, eyes, skin, muscle, and other tissues throughout the body. cln2 causes nerve cells, found in the brain, retina, and central nervous system, to die. symptoms typically begin between ages 2 and 4. early signs may include loss of muscle coordination (ataxia) and seizures that do not respond to drugs. this form progresses rapidly and ends in death between ages 8 and 12. the condition is caused by mutations in the cln 2 gene which lead to deficient activity of the tpp1 enzyme.  last updated: 7/15/2009

MalaCards based summary: Ceroid Lipofuscinosis, Neuronal, 2, also known as cln2 disease, is related to ceroid lipofuscinosis, neuronal, 1 and neuronitis, and has symptoms including autosomal recessive inheritance, progressive visual loss and retinal degeneration. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 2 is TPP1 (tripeptidyl peptidase I). Affiliated tissues include eye, brain and retina.

OMIM:45 The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative... (204500) more...

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 2

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Sources:
45OMIM, 10diseasecard, 60UMLS, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 26ICD10 via Orphanet
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Ceroid Lipofuscinosis, Neuronal, 2, Aliases & Descriptions:

Name: Ceroid Lipofuscinosis, Neuronal, 2 45 10 60
Cln2 Disease 41 20 47
Neuronal Ceroid Lipofuscinosis 2 41 22
Late-Infantile Neuronal Ceroid Lipfuscinosis 60
 
Ceroid Lipofuscinosis Neuronal 2 41
Jansky-Bielschowsky Disease 41
Cln2 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
cln2 disease:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM45 204500
Orphanet47 228349
ICD10 via Orphanet26 E75.4

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 2

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



Diseases related to ceroid lipofuscinosis, neuronal, 2

Symptoms for Ceroid Lipofuscinosis, Neuronal, 2

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Symptoms by clinical synopsis from OMIM:

204500

Clinical features from OMIM:

204500

HPO human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 2:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 progressive visual loss HP:0000529
3 retinal degeneration HP:0000546
4 abolished electroretinogram (erg) HP:0000550
5 delayed speech and language development HP:0000750
6 seizures HP:0001250
7 ataxia HP:0001251
8 abnormal nervous system electrophysiology HP:0001311
9 myoclonus HP:0001336
10 cerebral atrophy HP:0002059
11 increased neuronal autofluorescent lipopigment HP:0002074
12 developmental regression HP:0002376
13 curvilinear intracellular accumulation of autofluorescent lipopigment storage material HP:0003205
14 increased extraneuronal autofluorescent lipopigment HP:0003463

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 2

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Drug clinical trials:

Search ClinicalTrials for Ceroid Lipofuscinosis, Neuronal, 2

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 2

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 2

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Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 2:

id Genetic test Affiliating Genes
1 Cln2 Disease20 TPP1
2 Ceroid Lipofuscinosis, Neuronal, 222

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 2

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

31
Eye, Brain, Retina, Skin

Animal Models for Ceroid Lipofuscinosis, Neuronal, 2 or affiliated genes

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Publications for Ceroid Lipofuscinosis, Neuronal, 2

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Variations for Ceroid Lipofuscinosis, Neuronal, 2

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

62 (show all 35)
id Symbol AA change Variation ID SNP ID
1TPP1p.Cys365ArgVAR_005643rs119455953
2TPP1p.Cys365TyrVAR_005644rs119455954
3TPP1p.Arg447HisVAR_005645rs119455956
4TPP1p.Gly77ArgVAR_009603rs121908195
5TPP1p.Arg206CysVAR_009605rs28940573
6TPP1p.Ile287AsnVAR_009606rs121908196
7TPP1p.Glu343LysVAR_009607rs121908197
8TPP1p.Val385AspVAR_009608rs121908198
9TPP1p.Gly389GluVAR_009609rs121908199
10TPP1p.Gln422HisVAR_009610rs121908200
11TPP1p.Ala454GluVAR_009611rs121908201
12TPP1p.Ser475LeuVAR_009612rs121908202
13TPP1p.Arg127GlnVAR_016790rs121908204
14TPP1p.Ser153ProVAR_016791
15TPP1p.Arg206HisVAR_016792rs121908209
16TPP1p.Val277MetVAR_016793rs121908207
17TPP1p.Gln278ProVAR_016794
18TPP1p.Gly284ValVAR_016795rs119455957
19TPP1p.Asn286SerVAR_016796rs119455958
20TPP1p.Thr353ProVAR_016797rs121908206
21TPP1p.Lys428AsnVAR_016798
22TPP1p.Gly473ArgVAR_016799rs121908203
23TPP1p.Phe481CysVAR_016800
24TPP1p.Gly482ArgVAR_058435rs121908208
25TPP1p.Pro202LeuVAR_063640rs121908205
26TPP1p.Pro544SerVAR_063641rs121908210
27TPP1p.Ser62ThrVAR_066883
28TPP1p.Tyr209HisVAR_066884
29TPP1p.Arg266GlnVAR_066885
30TPP1p.Arg339GlnVAR_066886
31TPP1p.Ser382ArgVAR_066887
32TPP1p.Ala448ValVAR_066888
33TPP1p.Gly501CysVAR_066889
34TPP1p.Asn504TyrVAR_066890
35TPP1p.Trp548ArgVAR_066891

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1TPP1NM_000391.3(TPP1): c.1093T> C (p.Cys365Arg)single nucleotide variantPathogenicrs119455953GRCh37Chr 11, 6637288: 6637288
2TPP1NM_000391.3(TPP1): c.1094G> A (p.Cys365Tyr)single nucleotide variantPathogenicrs119455954GRCh37Chr 11, 6637287: 6637287
3TPP1NM_000391.3(TPP1): c.622C> T (p.Arg208Ter)single nucleotide variantPathogenicrs119455955GRCh37Chr 11, 6638271: 6638271
4TPP1NM_000391.3(TPP1): c.509-1G> Csingle nucleotide variantPathogenicrs56144125GRCh37Chr 11, 6638385: 6638385
5TPP1NM_000391.3(TPP1): c.1340G> A (p.Arg447His)single nucleotide variantPathogenicrs119455956GRCh37Chr 11, 6636487: 6636487
6TPP1NM_000391.3(TPP1): c.616C> T (p.Arg206Cys)single nucleotide variantPathogenicrs28940573GRCh37Chr 11, 6638277: 6638277
7TPP1NM_000391.3(TPP1): c.851G> T (p.Gly284Val)single nucleotide variantPathogenicrs119455957GRCh37Chr 11, 6637927: 6637927
8TPP1NM_000391.3(TPP1): c.857A> G (p.Asn286Ser)single nucleotide variantPathogenicrs119455958GRCh37Chr 11, 6637921: 6637921
9TPP1TPP1, IVS7AS, A-G, -10single nucleotide variantPathogenic

Expression for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 2

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

Pathways for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 2

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Compounds for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 2

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GO Terms for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 2

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Products for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 2

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Sources for Ceroid Lipofuscinosis, Neuronal, 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
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39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet