CLN2
MCID: CRD035
MIFTS: 40

Ceroid Lipofuscinosis Neuronal 2 (CLN2) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories
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Summaries for Ceroid Lipofuscinosis Neuronal 2

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Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Ceroid Lipofuscinosis Neuronal 2, also known as ceroid lipofuscinosis, neuronal, 2, is related to neuronitis and neuronal ceroid lipofuscinosis, and has symptoms including autosomal recessive inheritance, psychic/psychomotor regression/dementia/intellectual decline and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Ceroid Lipofuscinosis Neuronal 2 is TPP1 (tripeptidyl peptidase I). Affiliated tissues include eye, skin and retina.

Genetics Home Reference:21 Late-infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin in late infancy or early childhood. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision impairment. Late-infantile NCL affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), progressive intellectual disability, 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.

Description from OMIM:47 204500, 256730, 256731, 600143, 601780 610127, 610951 more

Aliases & Classifications for Ceroid Lipofuscinosis Neuronal 2

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43NIH Rare Diseases, 20GeneTests, 49Orphanet, 22GTR, 47OMIM, 62UMLS, 63UMLS via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

49
jansky-bielschowsky disease:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Child / adolescent
cln2 disease:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

ceroid lipofuscinosis neuronal 2 43
ceroid lipofuscinosis, neuronal, 2 47 62
neuronal ceroid lipofuscinosis 2 43 22
jansky-bielschowsky disease 43 49
cln2 43 20
late infantile neuronal ceroid lipofuscinosis 49
late-infantile neuronal ceroid lipfuscinosis 62
late infantile ncl 49
cln2 disease 49
lincl 49


External Ids:

UMLS via Orphanet63 C0022340
ICD10 via Orphanet26 E75.4
SNOMED-CT via Orphanet59 14637005

Related Diseases for Ceroid Lipofuscinosis Neuronal 2

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

204500

Clinical features from OMIM:

204500,256730,256731,600143,601780,610127,610951

Symptoms:

49 (show all 12)
  • autosomal recessive inheritance
  • psychic/psychomotor regression/dementia/intellectual decline
  • seizures/epilepsy/absences/spasms/status epilepticus
  • myoclonus/fasciculations
  • ataxia/incoordination/trouble of the equilibrium
  • eeg anomalies
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • absent/hypotonic/flaccid abdominal wall muscles
  • abnormal vep/visual evoked potential
  • abnormal erg/electroretinogram/electroretinography
  • retinopathy
  • anomalies of eyes and vision

Drugs & Therapeutics for Ceroid Lipofuscinosis Neuronal 2

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42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Ceroid Lipofuscinosis Neuronal 2:

33
Eye, Skin, Retina, Brain

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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis Neuronal 2:

64 (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:

1
id Gene Name 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ceroid Lipofuscinosis Neuronal 2

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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ceroid Lipofuscinosis Neuronal 2

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet