Ceroid Lipofuscinosis Neuronal 2 (CLN2) malady

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

Summaries for Ceroid Lipofuscinosis Neuronal 2

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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 based summary: Ceroid Lipofuscinosis Neuronal 2, also known as ceroid lipofuscinosis, neuronal, 2, is related to northern epilepsy and late-infantile neuronal ceroid lipofuscinosis, and has symptoms including retinopathy, abnormal electroretinogram and abnormality of vision evoked potentials. An important gene associated with Ceroid Lipofuscinosis Neuronal 2 is TPP1 (tripeptidyl peptidase I), and among its related pathways is Lysosome. Affiliated tissues include eye, brain and retina.

Genetics Home Reference:22 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.

OMIM:46 The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative... (204500) more...

Descriptions from OMIM:46 256730, 256731, 600143, 601780, 610127 610951 more

Aliases & Classifications for Ceroid Lipofuscinosis Neuronal 2

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42NIH Rare Diseases, 21GeneTests, 23GTR, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet
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Ceroid Lipofuscinosis Neuronal 2, Aliases & Descriptions:

Name: Ceroid Lipofuscinosis Neuronal 2 42
Ceroid Lipofuscinosis, Neuronal, 2 46 61
Neuronal Ceroid Lipofuscinosis 2 42 23
Jansky-Bielschowsky Disease 42 48
Lincl 48 61
Cln2 42 21
Late Infantile Neuronal Ceroid Lipofuscinosis 48
Late-Infantile Neuronal Ceroid Lipofuscinosis 61
Late-Infantile Neuronal Ceroid Lipfuscinosis 61
Late Infantile Ncl 48
Cln2 Disease 48


Characteristics (Orphanet epidemiological data):

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

External Ids:

ICD10 via Orphanet27 E75.4
UMLS via Orphanet62 C0022340

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:


Clinical features from OMIM:



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

HPO human phenotypes related to Ceroid Lipofuscinosis Neuronal 2:

(show all 24)
id Description Frequency HPO Source Accession
1 retinopathy hallmark (90%) HP:0000488
2 abnormal electroretinogram hallmark (90%) HP:0000512
3 abnormality of vision evoked potentials hallmark (90%) HP:0000649
4 seizures hallmark (90%) HP:0001250
5 cerebral cortical atrophy hallmark (90%) HP:0002120
6 incoordination hallmark (90%) HP:0002311
7 eeg abnormality hallmark (90%) HP:0002353
8 developmental regression hallmark (90%) HP:0002376
9 involuntary movements hallmark (90%) HP:0004305
10 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
11 autosomal recessive inheritance HP:0000007
12 progressive visual loss HP:0000529
13 retinal degeneration HP:0000546
14 abolished electroretinogram (erg) HP:0000550
15 delayed speech and language development HP:0000750
16 seizures HP:0001250
17 ataxia HP:0001251
18 abnormal nervous system electrophysiology HP:0001311
19 myoclonus HP:0001336
20 cerebral atrophy HP:0002059
21 increased neuronal autofluorescent lipopigment HP:0002074
22 developmental regression HP:0002376
23 curvilinear intracellular accumulation of autofluorescent lipopigment storage material HP:0003205
24 increased extraneuronal autofluorescent lipopigment HP:0003463

Drugs & Therapeutics for Ceroid Lipofuscinosis Neuronal 2

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Drug clinical trials:

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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 Disease21 TPP1
2 Ceroid Lipofuscinosis, Neuronal, 223

Anatomical Context for Ceroid Lipofuscinosis Neuronal 2

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MalaCards organs/tissues related to Ceroid Lipofuscinosis Neuronal 2:

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:

63 (show all 35)
id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Ceroid Lipofuscinosis Neuronal 2:

7 (show all 73)
id Gene Name Type Significance SNP ID Assembly Location
1MFSD8NM_152778.2(MFSD8): c.929G> A (p.Gly310Asp)single nucleotide variantPathogenicrs118203975GRCh37Chr 4, 128851907: 128851907
2MFSD8NM_152778.2(MFSD8): c.1286G> A (p.Gly429Asp)single nucleotide variantPathogenicrs118203976GRCh37Chr 4, 128842743: 128842743
3MFSD8NM_152778.2(MFSD8): c.894T> G (p.Tyr298Ter)single nucleotide variantPathogenicrs118203977GRCh37Chr 4, 128851942: 128851942
4MFSD8NM_152778.2(MFSD8): c.362A> G (p.Tyr121Cys)single nucleotide variantPathogenicrs118203978GRCh37Chr 4, 128864984: 128864984
5MFSD8NM_152778.2(MFSD8): c.1235C> T (p.Pro412Leu)single nucleotide variantPathogenicrs267607235GRCh37Chr 4, 128842794: 128842794
6MFSD8NM_152778.2(MFSD8): c.881C> A (p.Thr294Lys)single nucleotide variantPathogenicrs140948465GRCh37Chr 4, 128851955: 128851955
7MFSD8MFSD8, 2-BP DEL/2-BP INSindelPathogenic
8CLN8NM_018941.3(CLN8): c.792C> G (p.Asn264Lys)single nucleotide variantPathogenicGRCh37Chr 8, 1728664: 1728664
9CLN5NM_006493.2(CLN5): c.672delG (p.Trp224Terfs)deletionPathogenicGRCh37Chr 13, 77570222: 77570222
10CLN5NM_006493.2(CLN5): c.1175_1176delAT (p.Tyr392Terfs)deletionPathogenicrs386833969GRCh37Chr 13, 77575055: 77575056
11CLN5NM_006493.2(CLN5): c.225G> A (p.Trp75Ter)single nucleotide variantPathogenicrs104894385GRCh37Chr 13, 77566311: 77566311
12CLN5NM_006493.2(CLN5): c.835G> A (p.Asp279Asn)single nucleotide variantPathogenicrs28940280GRCh37Chr 13, 77574715: 77574715
13CLN5NM_006493.2(CLN5): c.335G> A (p.Arg112His)single nucleotide variantPathogenicrs104894386GRCh37Chr 13, 77569212: 77569212
14CLN5NM_006493.2(CLN5): c.1054G> T (p.Glu352Ter)single nucleotide variantPathogenicrs121908292GRCh37Chr 13, 77574934: 77574934
15CLN5NM_006493.2(CLN5): c.377G> A (p.Cys126Tyr)single nucleotide variantPathogenicrs267606738GRCh37Chr 13, 77569254: 77569254
16CLN5NM_006493.2(CLN5): c.1121A> G (p.Tyr374Cys)single nucleotide variantPathogenicrs148862100GRCh37Chr 13, 77575001: 77575001
17CLN5CLN5, EX4 DELdeletionPathogenic
18TPP1NM_000391.3(TPP1): c.1093T> C (p.Cys365Arg)single nucleotide variantPathogenicrs119455953GRCh37Chr 11, 6637288: 6637288
19TPP1NM_000391.3(TPP1): c.1094G> A (p.Cys365Tyr)single nucleotide variantPathogenicrs119455954GRCh37Chr 11, 6637287: 6637287
20TPP1NM_000391.3(TPP1): c.622C> T (p.Arg208Ter)single nucleotide variantPathogenicrs119455955GRCh37Chr 11, 6638271: 6638271
21TPP1NM_000391.3(TPP1): c.509-1G> Csingle nucleotide variantPathogenicrs56144125GRCh37Chr 11, 6638385: 6638385
22TPP1NM_000391.3(TPP1): c.1340G> A (p.Arg447His)single nucleotide variantPathogenicrs119455956GRCh37Chr 11, 6636487: 6636487
23TPP1NM_000391.3(TPP1): c.616C> T (p.Arg206Cys)single nucleotide variantPathogenicrs28940573GRCh37Chr 11, 6638277: 6638277
24TPP1NM_000391.3(TPP1): c.851G> T (p.Gly284Val)single nucleotide variantPathogenicrs119455957GRCh37Chr 11, 6637927: 6637927
25TPP1NM_000391.3(TPP1): c.857A> G (p.Asn286Ser)single nucleotide variantPathogenicrs119455958GRCh37Chr 11, 6637921: 6637921
26TPP1TPP1, IVS7AS, A-G, -10single nucleotide variantPathogenic
27CLN8NM_018941.3(CLN8): c.789G> C (p.Trp263Cys)single nucleotide variantPathogenicrs28940569GRCh37Chr 8, 1728661: 1728661
28CLN8NM_018941.3(CLN8): c.610C> T (p.Arg204Cys)single nucleotide variantPathogenicrs104894060GRCh37Chr 8, 1728482: 1728482
29CLN8CLN8, 1-BP DEL, 88GdeletionPathogenic
30CLN8NM_018941.3(CLN8): c.88G> C (p.Ala30Pro)single nucleotide variantPathogenicrs137852883GRCh37Chr 8, 1719308: 1719308
31CLN8CLN8, 1-BP DEL, 66GdeletionPathogenic
32CLN8CLN8, 3-BP DEL, 180GAAdeletionPathogenic
33CLN5NM_006493.2(CLN5): c.1026C> A (p.Tyr342Ter)single nucleotide variantLikely pathogenicrs386833963GRCh37Chr 13, 77574906: 77574906
34CLN5NM_006493.2(CLN5): c.1071_1072delCT (p.Leu358Alafs)deletionLikely pathogenicrs386833964GRCh37Chr 13, 77574951: 77574952
35CLN5NM_006493.2(CLN5): c.1072_1073delTT (p.Leu358Alafs)deletionLikely pathogenicrs386833965GRCh37Chr 13, 77574952: 77574953
36CLN5NM_006493.2(CLN5): c.1083delT (p.Phe361Leufs)deletionLikely pathogenicrs386833966GRCh37Chr 13, 77574963: 77574963
37CLN5NM_006493.2(CLN5): c.1103_1106delAACA (p.Lys368Serfs)deletionLikely pathogenicrs386833967GRCh37Chr 13, 77574983: 77574986
38CLN5NM_006493.2(CLN5): c.1137G> T (p.Trp379Cys)single nucleotide variantLikely pathogenicrs386833968GRCh37Chr 13, 77575017: 77575017
39CLN5NM_006493.2(CLN5): c.291dupC (p.Ser98Leufs)duplicationLikely pathogenicrs386833970GRCh37Chr 13, 77566377: 77566378
40CLN5NM_006493.2(CLN5): c.335G> C (p.Arg112Pro)single nucleotide variantLikely pathogenicrs104894386GRCh37Chr 13, 77569212: 77569212
41CLN5NM_006493.2(CLN5): c.433C> T (p.Arg145Ter)single nucleotide variantLikely pathogenicrs386833971GRCh37Chr 13, 77569310: 77569310
42CLN5NM_006493.2(CLN5): c.486+5G> Csingle nucleotide variantLikely pathogenicrs202146713GRCh37Chr 13, 77569368: 77569368
43CLN5NM_006493.2(CLN5): c.524T> G (p.Leu175Ter)single nucleotide variantLikely pathogenicrs386833972GRCh37Chr 13, 77570074: 77570074
44CLN5NM_006493.2(CLN5): c.527_528insA (p.Gly177Trpfs)insertionLikely pathogenicrs386833973GRCh37Chr 13, 77570077: 77570078
45CLN5NM_006493.2(CLN5): c.565C> T (p.Gln189Ter)single nucleotide variantLikely pathogenicrs386833974GRCh37Chr 13, 77570115: 77570115
46CLN5NM_006493.2(CLN5): c.575A> G (p.Asn192Ser)single nucleotide variantLikely pathogenicrs386833975GRCh37Chr 13, 77570125: 77570125
47CLN5NM_006493.2(CLN5): c.593T> C (p.Leu198Pro)single nucleotide variantLikely pathogenicrs386833976GRCh37Chr 13, 77570143: 77570143
48CLN5NM_006493.2(CLN5): c.613C> T (p.Pro205Ser)single nucleotide variantLikely pathogenicrs386833977GRCh37Chr 13, 77570163: 77570163
49CLN5NM_006493.2(CLN5): c.620G> C (p.Trp207Ser)single nucleotide variantLikely pathogenicrs386833978GRCh37Chr 13, 77570170: 77570170
50CLN5NM_006493.2(CLN5): c.669dupC (p.Trp224Leufs)duplicationLikely pathogenicrs386833979GRCh37Chr 13, 77570219: 77570220
51CLN5NM_006493.2(CLN5): c.671G> A (p.Trp224Ter)single nucleotide variantLikely pathogenicrs386833980GRCh37Chr 13, 77570221: 77570221
52CLN5NM_006493.2(CLN5): c.772T> G (p.Tyr258Asp)single nucleotide variantLikely pathogenicrs386833981GRCh37Chr 13, 77574652: 77574652
53CLN5NM_006493.2(CLN5): c.919delA (p.Arg307Glufs)deletionLikely pathogenicrs386833982GRCh37Chr 13, 77574799: 77574799
54CLN5NM_006493.2(CLN5): c.955_970del16 (p.Gly319Phefs)deletionLikely pathogenicrs386833983GRCh37Chr 13, 77574835: 77574850
55CLN8NM_018941.3(CLN8): c.180_182delGAA (p.Lys61del)deletionLikely pathogenicrs386834123GRCh37Chr 8, 1719400: 1719402
56CLN8NM_018941.3(CLN8): c.209G> A (p.Arg70His)single nucleotide variantLikely pathogenicrs386834124GRCh37Chr 8, 1719429: 1719429
57CLN8NM_018941.3(CLN8): c.227A> G (p.Gln76Arg)single nucleotide variantLikely pathogenicrs386834125GRCh37Chr 8, 1719447: 1719447
58CLN8NM_018941.3(CLN8): c.320T> G (p.Ile107Ser)single nucleotide variantLikely pathogenicrs386834126GRCh37Chr 8, 1719540: 1719540
59CLN8NM_018941.3(CLN8): c.415C> T (p.His139Tyr)single nucleotide variantLikely pathogenicrs386834127GRCh37Chr 8, 1719635: 1719635
60CLN8NM_018941.3(CLN8): c.464C> T (p.Ala155Val)single nucleotide variantLikely pathogenicrs386834128GRCh37Chr 8, 1719684: 1719684
61CLN8NM_018941.3(CLN8): c.46C> A (p.Leu16Met)single nucleotide variantLikely pathogenicrs386834129GRCh37Chr 8, 1719266: 1719266
62CLN8NM_018941.3(CLN8): c.473A> G (p.Tyr158Cys)single nucleotide variantLikely pathogenicrs386834130GRCh37Chr 8, 1719693: 1719693
63CLN8NM_018941.3(CLN8): c.507C> T (p.Ser169=)single nucleotide variantLikely pathogenicrs386834131GRCh37Chr 8, 1719727: 1719727
64CLN8NM_018941.3(CLN8): c.509C> T (p.Thr170Met)single nucleotide variantLikely pathogenicrs188259026GRCh37Chr 8, 1719729: 1719729
65CLN8NM_018941.3(CLN8): c.562_563delCT (p.Leu188Valfs)deletionLikely pathogenicrs386834132GRCh37Chr 8, 1728434: 1728435
66CLN8NM_018941.3(CLN8): c.581A> G (p.Gln194Arg)single nucleotide variantLikely pathogenicrs386834133GRCh37Chr 8, 1728453: 1728453
67CLN8NM_018941.3(CLN8): c.611G> T (p.Arg204Leu)single nucleotide variantLikely pathogenicrs386834134GRCh37Chr 8, 1728483: 1728483
68CLN8NM_018941.3(CLN8): c.637_639delTGG (p.Trp213del)deletionLikely pathogenicrs386834135GRCh37Chr 8, 1728509: 1728511
69CLN8NM_018941.3(CLN8): c.661G> A (p.Gly221Ser)single nucleotide variantLikely pathogenicrs386834136GRCh37Chr 8, 1728533: 1728533
70CLN8NM_018941.3(CLN8): c.66delG (p.Ile23Serfs)deletionLikely pathogenicrs386834137GRCh37Chr 8, 1719286: 1719286
71CLN8NM_018941.3(CLN8): c.766C> G (p.Gln256Glu)single nucleotide variantLikely pathogenicrs386834138GRCh37Chr 8, 1728638: 1728638
72CLN8NM_018941.3(CLN8): c.88delG (p.Ala30Leufs)deletionLikely pathogenicrs386834139GRCh37Chr 8, 1719308: 1719308
73MFSD8NM_152778.2(MFSD8): c.754+2T> Asingle nucleotide variantPathogenicGRCh37Chr 4, 128859936: 128859936

Expression for genes affiliated with Ceroid Lipofuscinosis Neuronal 2

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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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Pathways related to Ceroid Lipofuscinosis Neuronal 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.9CLN5, TPP1, MFSD8

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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Cellular components related to Ceroid Lipofuscinosis Neuronal 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal membraneGO:0057659.3CLN5, MFSD8
2lysosomeGO:0057649.1CLN5, TPP1

Biological processes related to Ceroid Lipofuscinosis Neuronal 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosome organizationGO:0070409.2TPP1, CLN8
2nervous system developmentGO:0073999.2CLN8, TPP1
3neuromuscular process controlling balanceGO:0508859.1CLN8, TPP1
4visual perceptionGO:0076018.7CLN5, CLN8
5protein catabolic processGO:0301638.6CLN5, CLN8, TPP1
6cell deathGO:0082198.2CLN5, CLN8, TPP1, MFSD8

Products for genes affiliated with Ceroid Lipofuscinosis Neuronal 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ceroid Lipofuscinosis Neuronal 2

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27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet