CLN2
MCID: CRD035
MIFTS: 42

Ceroid Lipofuscinosis Neuronal 2 (CLN2) malady

Neuronal diseases, Metabolic diseases categories

Summaries for Ceroid Lipofuscinosis Neuronal 2

About this section
Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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 chromosomal disease and lysosomal storage disease, and has symptoms including abnormal erg/electroretinogram/electroretinography, anomalies of eyes and vision and retinopathy. An important gene associated with Ceroid Lipofuscinosis Neuronal 2 is TPP1 (tripeptidyl peptidase I). Affiliated tissues include eye, retina and brain.

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:46 204500, 256730, 256731, 600143, 601780 610127, 610951 more

Aliases & Classifications for Ceroid Lipofuscinosis Neuronal 2

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
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 42
ceroid lipofuscinosis, neuronal, 2 46 60
neuronal ceroid lipofuscinosis 2 42 22
jansky-bielschowsky disease 42 48
cln2 42 20
late infantile neuronal ceroid lipofuscinosis 48
late-infantile neuronal ceroid lipfuscinosis 60
late infantile ncl 48
cln2 disease 48
lincl 48


External Ids:

ICD10 via Orphanet26 E75.4
SNOMED-CT via Orphanet57 14637005

Related Diseases for Ceroid Lipofuscinosis Neuronal 2

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Ceroid Lipofuscinosis Neuronal 2:



Diseases related to ceroid lipofuscinosis neuronal 2

Clinical Features for Ceroid Lipofuscinosis Neuronal 2

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

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

Clinical synopsis from OMIM:

204500

Symptoms:

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

Drugs & Therapeutics for Ceroid Lipofuscinosis Neuronal 2

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Ceroid Lipofuscinosis Neuronal 2

Drug clinical trials:

Search ClinicalTrials for Ceroid Lipofuscinosis Neuronal 2

Search NIH Clinical Center for Ceroid Lipofuscinosis Neuronal 2

Search CenterWatch for Ceroid Lipofuscinosis Neuronal 2

Genetic Tests for Ceroid Lipofuscinosis Neuronal 2

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Ceroid Lipofuscinosis Neuronal 2:

32
Eye, Retina, Brain, Skin

Animal Models for Ceroid Lipofuscinosis Neuronal 2 or affiliated genes

About this section

Publications for Ceroid Lipofuscinosis Neuronal 2

About this section

Genetic Variations for Ceroid Lipofuscinosis Neuronal 2

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

Expression for genes affiliated with Ceroid Lipofuscinosis Neuronal 2

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Ceroid Lipofuscinosis Neuronal 2

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

Pathways for genes affiliated with Ceroid Lipofuscinosis Neuronal 2

About this section

Compounds for genes affiliated with Ceroid Lipofuscinosis Neuronal 2

About this section

GO Terms for genes affiliated with Ceroid Lipofuscinosis Neuronal 2

About this section

Products for genes affiliated with Ceroid Lipofuscinosis Neuronal 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ceroid Lipofuscinosis Neuronal 2

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet