MCID: CRD186
MIFTS: 50

Ceroid Lipofuscinosis, Neuronal, 3 malady

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

Summaries for Ceroid Lipofuscinosis, Neuronal, 3

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OMIM:47 The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative... (204200) more...

MalaCards based summary: Ceroid Lipofuscinosis, Neuronal, 3, also known as batten disease, is related to neuronal ceroid lipofuscinosis and neuronal ceroid-lipofuscinoses, and has symptoms including retinopathy, visual impairment and abnormal electroretinogram. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 3 is CLN3 (ceroid-lipofuscinosis, neuronal 3), and among its related pathways is Lysosome. The compound mannose 6-phosphate have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and skin, and related mouse phenotypes are mortality/aging and behavior/neurological.

NIH Rare Diseases:43 Batten disease is a neurodegenerative genetic condition characterized by progressive mental and motor deterioration, seizures, and early death. symptoms of batten disease typically appear between the ages of four and ten years. rapid vision loss resulting in total blindness is usually the first symptom observed. followed by seizures which typically present between ages five and 18 years. life expectancy generally ranges from the late teens to the 30's. batten disease is inherited in an autosomal recessive fashion and has been associated with mutations in a gene called the cln3.  although a cure has not been identified for batten disease, treatment for the symptoms is available. last updated: 9/24/2012

NINDS:44 Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 3

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Sources:
47OMIM, 11diseasecard, 10Disease Ontology, 43NIH Rare Diseases, 44NINDS, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 22GeneTests, 28ICD10 via Orphanet
See all sources

Ceroid Lipofuscinosis, Neuronal, 3, Aliases & Descriptions:

Name: Ceroid Lipofuscinosis, Neuronal, 3 47 11
Batten Disease 10 43 44 12 45 49
Juvenile Neuronal Ceroid Lipofuscinosis 10 43 49 24
Cln3 Disease 43 22 49
Spielmeyer-Vogt Disease 43 49
Juvenile Ncl 43 49
 
Jncl 43 49
Ceroid Lipofuscinosis Neuronal 3 43
Neuronal Ceroid Lipofuscinosis 3 43
Spielmeyer Sjogren Disease 43
Vogt Spielmeyer Disease 43
Cln3 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
cln3 disease:
Inheritance: Autosomal recessive; Age of onset: Childhood
batten disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden),1-9/100000 (Sweden),1-9/100000 (Finland),1-9/1000000 (Norway),1-9/100000 (Norway),1-9/100000 (Iceland),1-9/1000000 (Denmark),1-9/100000 (Denmark); Age of onset: Childhood; Age of death: young Adult


External Ids:

OMIM47 204200
Disease Ontology10 DOID:0050756
Orphanet49 228346, 79264
ICD10 via Orphanet28 E75.4

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 3

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Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 3:



Diseases related to ceroid lipofuscinosis, neuronal, 3

Symptoms for Ceroid Lipofuscinosis, Neuronal, 3

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Symptoms by clinical synopsis from OMIM:

204200

Clinical features from OMIM:

204200

Symptoms:

 49 (show all 14)
  • retinopathy
  • retinitis pigmentosa/retinal pigmentary changes
  • mild visual loss/impaired visual acuity
  • abnormal erg/electroretinogram/electroretinography
  • abnormal vep/visual evoked potential
  • eeg anomalies
  • ataxia/incoordination/trouble of the equilibrium
  • extrapyramidal syndrome
  • pyramidal syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • troubles of memory/amnesia/hypermnesia
  • psychic/behavioural troubles
  • autosomal recessive inheritance

HPO human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 3:

(show all 36)
id Description Frequency HPO Source Accession
1 retinopathy hallmark (90%) HP:0000488
2 visual impairment hallmark (90%) HP:0000505
3 abnormal electroretinogram hallmark (90%) HP:0000512
4 abnormality of vision evoked potentials hallmark (90%) HP:0000649
5 behavioral abnormality hallmark (90%) HP:0000708
6 seizures hallmark (90%) HP:0001250
7 abnormality of extrapyramidal motor function hallmark (90%) HP:0002071
8 incoordination hallmark (90%) HP:0002311
9 eeg abnormality hallmark (90%) HP:0002353
10 memory impairment hallmark (90%) HP:0002354
11 abnormality of pyramidal motor function hallmark (90%) HP:0007256
12 abnormal retinal pigmentation hallmark (90%) HP:0007703
13 autosomal recessive inheritance HP:0000007
14 retinitis pigmentosa HP:0000510
15 progressive visual loss HP:0000529
16 abolished electroretinogram (erg) HP:0000550
17 macular degeneration HP:0000608
18 blindness HP:0000618
19 optic atrophy HP:0000648
20 psychosis HP:0000709
21 dementia HP:0000726
22 anxiety HP:0000739
23 intellectual disability HP:0001249
24 seizures HP:0001250
25 dysarthria HP:0001260
26 parkinsonism HP:0001300
27 abnormality of the cerebellum HP:0001317
28 myoclonus HP:0001336
29 vacuolated lymphocytes HP:0001922
30 cerebral atrophy HP:0002059
31 increased neuronal autofluorescent lipopigment HP:0002074
32 psychomotor deterioration HP:0002361
33 progressive inability to walk HP:0002505
34 curvilinear intracellular accumulation of autofluorescent lipopigment storage material HP:0003205
35 fingerprint intracellular accumulation of autofluorescent lipopigment storage material HP:0003208
36 increased extraneuronal autofluorescent lipopigment HP:0003463

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 3

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Drug clinical trials:

Search ClinicalTrials for Ceroid Lipofuscinosis, Neuronal, 3

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 3

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 3

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Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 3:

id Genetic test Affiliating Genes
1 Cln3 Disease22 CLN3
2 Juvenile Neuronal Ceroid Lipofuscinosis24

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 3

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MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 3:

33
Eye, Brain, Skin, Testes, Cerebellum

Animal Models for Ceroid Lipofuscinosis, Neuronal, 3 or affiliated genes

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MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 3:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.5CLN3, CLN8, TPP1
2MP:00053868.4CLN3, CLN8, TPP1
3MP:00036318.2CLN3, CLN8, TPP1

Publications for Ceroid Lipofuscinosis, Neuronal, 3

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Articles related to Ceroid Lipofuscinosis, Neuronal, 3:

idTitleAuthorsYear
1
Ceroid lipofuscinosis, neuronal 3, Juvenile-Batten disease: case report and literature review. (12363260)
2001

Variations for Ceroid Lipofuscinosis, Neuronal, 3

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UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 3:

64
id Symbol AA change Variation ID SNP ID
1CLN3p.Leu101ProVAR_005131
2CLN3p.Leu170ProVAR_005132
3CLN3p.Glu295LysVAR_005133
4CLN3p.Val330PheVAR_005134
5CLN3p.Arg334CysVAR_005135
6CLN3p.Arg334HisVAR_005136
7CLN3p.Cys134ArgVAR_066892
8CLN3p.Gly187AlaVAR_066893
9CLN3p.Gly189ArgVAR_066894

Clinvar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 3:

7 (show all 93)
id Gene Variation Type Significance SNP ID Assembly Location
1CLN3NM_000086.2(CLN3): c.371_372insT (p.Ser125Glnfs)insertionPathogenicGRCh37Chr 16, 28498985: 28498986
2CLN8NM_018941.3(CLN8): c.792C> G (p.Asn264Lys)single nucleotide variantPathogenicGRCh37Chr 8, 1728664: 1728664
3TPP1NM_000391.3(TPP1): c.1093T> C (p.Cys365Arg)single nucleotide variantPathogenicrs119455953GRCh37Chr 11, 6637288: 6637288
4TPP1NM_000391.3(TPP1): c.1094G> A (p.Cys365Tyr)single nucleotide variantPathogenicrs119455954GRCh37Chr 11, 6637287: 6637287
5TPP1NM_000391.3(TPP1): c.622C> T (p.Arg208Ter)single nucleotide variantPathogenicrs119455955GRCh37Chr 11, 6638271: 6638271
6TPP1NM_000391.3(TPP1): c.1340G> A (p.Arg447His)single nucleotide variantPathogenicrs119455956GRCh37Chr 11, 6636487: 6636487
7TPP1NM_000391.3(TPP1): c.616C> T (p.Arg206Cys)single nucleotide variantPathogenicrs28940573GRCh37Chr 11, 6638277: 6638277
8TPP1NM_000391.3(TPP1): c.851G> T (p.Gly284Val)single nucleotide variantPathogenicrs119455957GRCh37Chr 11, 6637927: 6637927
9TPP1NM_000391.3(TPP1): c.857A> G (p.Asn286Ser)single nucleotide variantPathogenicrs119455958GRCh37Chr 11, 6637921: 6637921
10TPP1TPP1, IVS7AS, A-G, -10single nucleotide variantPathogenic
11CLN8NM_018941.3(CLN8): c.789G> C (p.Trp263Cys)single nucleotide variantPathogenicrs28940569GRCh37Chr 8, 1728661: 1728661
12CLN8NM_018941.3(CLN8): c.610C> T (p.Arg204Cys)single nucleotide variantPathogenicrs104894060GRCh37Chr 8, 1728482: 1728482
13CLN8CLN8, 1-BP DEL, 88GdeletionPathogenic
14CLN8NM_018941.3(CLN8): c.88G> C (p.Ala30Pro)single nucleotide variantPathogenicrs137852883GRCh37Chr 8, 1719308: 1719308
15CLN8CLN8, 1-BP DEL, 66GdeletionPathogenic
16CLN8CLN8, 3-BP DEL, 180GAAdeletionPathogenic
17CLN3NM_001042432.1(CLN3): c.461-280_677+382deldeletionPathogenicGRCh37Chr 16, 28497286: 28498251
18CLN3CLN3, 3-KB DEL, NT928deletionPathogenic
19CLN3CLN3, 6-KB DELdeletionPathogenic
20CLN3CLN3, IVSDS, G-C, +1/76-BP DELdeletionPathogenic
21CLN3NM_000086.2(CLN3): c.883G> A (p.Glu295Lys)single nucleotide variantPathogenicrs121434286GRCh37Chr 16, 28493821: 28493821
22CLN3NM_000086.2(CLN3): c.1000C> T (p.Arg334Cys)single nucleotide variantLikely pathogenicrs386833694GRCh37Chr 16, 28493482: 28493482
23CLN3NM_000086.2(CLN3): c.1001G> A (p.Arg334His)single nucleotide variantLikely pathogenicrs386833695GRCh37Chr 16, 28493481: 28493481
24CLN3NM_000086.2(CLN3): c.1048delC (p.Leu350Cysfs)deletionLikely pathogenicrs386833696GRCh37Chr 16, 28493434: 28493434
25CLN3NM_000086.2(CLN3): c.1054C> T (p.Gln352Ter)single nucleotide variantLikely pathogenicrs386833697GRCh37Chr 16, 28493428: 28493428
26CLN3NM_000086.2(CLN3): c.1056+3A> Csingle nucleotide variantLikely pathogenicrs386833698GRCh37Chr 16, 28493423: 28493423
27CLN3NM_000086.2(CLN3): c.1056G> C (p.Gln352His)single nucleotide variantLikely pathogenicrs386833699GRCh37Chr 16, 28493426: 28493426
28CLN3NM_000086.2(CLN3): c.105G> A (p.Trp35Ter)single nucleotide variantLikely pathogenicrs386833700GRCh37Chr 16, 28502823: 28502823
29CLN3NM_000086.2(CLN3): c.1195G> T (p.Glu399Ter)single nucleotide variantLikely pathogenicrs386833701GRCh37Chr 16, 28489060: 28489060
30CLN3NM_000086.2(CLN3): c.1198-1G> Tsingle nucleotide variantLikely pathogenicrs386833702GRCh37Chr 16, 28488957: 28488957
31CLN3NM_000086.2(CLN3): c.1247A> G (p.Asp416Gly)single nucleotide variantLikely pathogenicrs386833703GRCh37Chr 16, 28488907: 28488907
32CLN3NM_000086.2(CLN3): c.125+5G> Asingle nucleotide variantLikely pathogenicrs386833704GRCh37Chr 16, 28502798: 28502798
33CLN3NM_000086.2(CLN3): c.126-1G> Asingle nucleotide variantLikely pathogenicrs386833705GRCh37Chr 16, 28500708: 28500708
34CLN3NM_000086.2(CLN3): c.1268C> A (p.Ser423Ter)single nucleotide variantLikely pathogenicrs386833706GRCh37Chr 16, 28488886: 28488886
35CLN3NM_000086.2(CLN3): c.1272delG (p.Leu425Serfs)deletionLikely pathogenicrs386833707GRCh37Chr 16, 28488882: 28488882
36CLN3NM_000086.2(CLN3): c.1A> C (p.Met1Leu)single nucleotide variantLikely pathogenicrs386833708GRCh37Chr 16, 28503080: 28503080
37CLN3NM_000086.2(CLN3): c.214C> T (p.Gln72Ter)single nucleotide variantLikely pathogenicrs386833709GRCh37Chr 16, 28500619: 28500619
38CLN3NM_000086.2(CLN3): c.222+2T> Gsingle nucleotide variantLikely pathogenicrs386833710GRCh37Chr 16, 28500609: 28500609
39CLN3NM_000086.2(CLN3): c.222+5G> Csingle nucleotide variantLikely pathogenicrs386833711GRCh37Chr 16, 28500606: 28500606
40CLN3NM_000086.2(CLN3): c.233dupG (p.Thr80Asnfs)duplicationLikely pathogenicrs386833712GRCh37Chr 16, 28499972: 28499973
41CLN3NM_000086.2(CLN3): c.265C> T (p.Arg89Ter)single nucleotide variantLikely pathogenicrs386833713GRCh37Chr 16, 28499941: 28499941
42CLN3NM_000086.2(CLN3): c.302T> C (p.Leu101Pro)single nucleotide variantLikely pathogenicrs386833714GRCh37Chr 16, 28499055: 28499055
43CLN3NM_000086.2(CLN3): c.370dupT (p.Tyr124Leufs)duplicationLikely pathogenicrs386833715GRCh37Chr 16, 28498986: 28498987
44CLN3NM_000086.2(CLN3): c.374G> A (p.Ser125Asn)single nucleotide variantLikely pathogenicrs386833716GRCh37Chr 16, 28498983: 28498983
45CLN3NM_000086.2(CLN3): c.378_379dupCC (p.Arg127Profs)duplicationLikely pathogenicrs386833717GRCh37Chr 16, 28498857: 28498858
46CLN3NM_000086.2(CLN3): c.379delC (p.Arg127Glyfs)deletionLikely pathogenicrs386833718GRCh37Chr 16, 28498858: 28498858
47CLN3NM_000086.2(CLN3): c.400T> C (p.Cys134Arg)single nucleotide variantLikely pathogenicrs386833719GRCh37Chr 16, 28498837: 28498837
48CLN3NM_000086.2(CLN3): c.424delG (p.Val142Leufs)deletionLikely pathogenicrs386833720GRCh37Chr 16, 28498813: 28498813
49CLN3NM_000086.2(CLN3): c.461-13G> Csingle nucleotide variantLikely pathogenicrs386833721GRCh37Chr 16, 28497984: 28497984
50CLN3NM_000086.2(CLN3): c.461-1G> Asingle nucleotide variantLikely pathogenicrs386833722GRCh37Chr 16, 28497972: 28497972
51CLN3NM_000086.2(CLN3): c.461-1G> Csingle nucleotide variantLikely pathogenicrs386833722GRCh37Chr 16, 28497972: 28497972
52CLN3NM_000086.2(CLN3): c.472G> C (p.Ala158Pro)single nucleotide variantLikely pathogenicrs386833723GRCh37Chr 16, 28497960: 28497960
53CLN3NM_000086.2(CLN3): c.482C> G (p.Ser161Ter)single nucleotide variantLikely pathogenicrs386833724GRCh37Chr 16, 28497950: 28497950
54CLN3NM_000086.2(CLN3): c.485C> G (p.Ser162Ter)single nucleotide variantLikely pathogenicrs386833725GRCh37Chr 16, 28497947: 28497947
55CLN3NM_000086.2(CLN3): c.49G> T (p.Glu17Ter)single nucleotide variantLikely pathogenicrs386833726GRCh37Chr 16, 28502879: 28502879
56CLN3NM_000086.2(CLN3): c.509T> C (p.Leu170Pro)single nucleotide variantLikely pathogenicrs386833727GRCh37Chr 16, 28497923: 28497923
57CLN3NM_000086.2(CLN3): c.533+1G> Asingle nucleotide variantLikely pathogenicrs386833728GRCh37Chr 16, 28497898: 28497898
58CLN3NM_000086.2(CLN3): c.533+1G> Csingle nucleotide variantLikely pathogenicrs386833728GRCh37Chr 16, 28497898: 28497898
59CLN3NM_000086.2(CLN3): c.558_559delAG (p.Gly187Aspfs)deletionLikely pathogenicrs386833729GRCh37Chr 16, 28497786: 28497787
60CLN3NM_000086.2(CLN3): c.560G> C (p.Gly187Ala)single nucleotide variantLikely pathogenicrs386833730GRCh37Chr 16, 28497785: 28497785
61CLN3NM_000086.2(CLN3): c.565G> C (p.Gly189Arg)single nucleotide variantLikely pathogenicrs386833731GRCh37Chr 16, 28497780: 28497780
62CLN3NM_000086.2(CLN3): c.569delG (p.Gly190Glufs)deletionLikely pathogenicrs386833732GRCh37Chr 16, 28497776: 28497776
63CLN3NM_000086.2(CLN3): c.575G> A (p.Gly192Glu)single nucleotide variantLikely pathogenicrs386833733GRCh37Chr 16, 28497770: 28497770
64CLN3NM_000086.2(CLN3): c.582G> T (p.Leu194=)single nucleotide variantLikely pathogenicrs386833734GRCh37Chr 16, 28497763: 28497763
65CLN3NM_000086.2(CLN3): c.586dupG (p.Ala196Glyfs)duplicationLikely pathogenicrs386833735GRCh37Chr 16, 28497758: 28497759
66CLN3NM_000086.2(CLN3): c.622dupT (p.Ser208Phefs)duplicationLikely pathogenicrs386833736GRCh37Chr 16, 28497722: 28497723
67CLN3NM_000086.2(CLN3): c.631C> T (p.Gln211Ter)single nucleotide variantLikely pathogenicrs386833737GRCh37Chr 16, 28497714: 28497714
68CLN3NM_000086.2(CLN3): c.790+3A> Csingle nucleotide variantLikely pathogenicrs386833738GRCh37Chr 16, 28495324: 28495324
69CLN3NM_000086.2(CLN3): c.883G> T (p.Glu295Ter)single nucleotide variantLikely pathogenicrs121434286GRCh37Chr 16, 28493821: 28493821
70CLN3NM_000086.2(CLN3): c.906+5G> Asingle nucleotide variantLikely pathogenicrs386833739GRCh37Chr 16, 28493793: 28493793
71CLN3NM_000086.2(CLN3): c.944dupA (p.His315Glnfs)duplicationLikely pathogenicrs386833740GRCh37Chr 16, 28493665: 28493666
72CLN3NM_001042432.1(CLN3): c.954_962+18del27deletionLikely pathogenicrs386833741GRCh37Chr 16, 28493630: 28493656
73CLN3NM_000086.2(CLN3): c.963-1G> Tsingle nucleotide variantLikely pathogenicrs386833742GRCh37Chr 16, 28493520: 28493520
74CLN3NM_000086.2(CLN3): c.979C> T (p.Gln327Ter)single nucleotide variantLikely pathogenicrs386833743GRCh37Chr 16, 28493503: 28493503
75CLN3NM_000086.2(CLN3): c.988G> T (p.Val330Phe)single nucleotide variantLikely pathogenicrs386833744GRCh37Chr 16, 28493494: 28493494
76CLN8NM_018941.3(CLN8): c.180_182delGAA (p.Lys61del)deletionLikely pathogenicrs386834123GRCh37Chr 8, 1719400: 1719402
77CLN8NM_018941.3(CLN8): c.209G> A (p.Arg70His)single nucleotide variantLikely pathogenicrs386834124GRCh37Chr 8, 1719429: 1719429
78CLN8NM_018941.3(CLN8): c.227A> G (p.Gln76Arg)single nucleotide variantLikely pathogenicrs386834125GRCh37Chr 8, 1719447: 1719447
79CLN8NM_018941.3(CLN8): c.320T> G (p.Ile107Ser)single nucleotide variantLikely pathogenicrs386834126GRCh37Chr 8, 1719540: 1719540
80CLN8NM_018941.3(CLN8): c.415C> T (p.His139Tyr)single nucleotide variantLikely pathogenicrs386834127GRCh37Chr 8, 1719635: 1719635
81CLN8NM_018941.3(CLN8): c.464C> T (p.Ala155Val)single nucleotide variantLikely pathogenicrs386834128GRCh37Chr 8, 1719684: 1719684
82CLN8NM_018941.3(CLN8): c.46C> A (p.Leu16Met)single nucleotide variantLikely pathogenicrs386834129GRCh37Chr 8, 1719266: 1719266
83CLN8NM_018941.3(CLN8): c.473A> G (p.Tyr158Cys)single nucleotide variantLikely pathogenicrs386834130GRCh37Chr 8, 1719693: 1719693
84CLN8NM_018941.3(CLN8): c.507C> T (p.Ser169=)single nucleotide variantLikely pathogenicrs386834131GRCh37Chr 8, 1719727: 1719727
85CLN8NM_018941.3(CLN8): c.509C> T (p.Thr170Met)single nucleotide variantLikely pathogenicrs188259026GRCh37Chr 8, 1719729: 1719729
86CLN8NM_018941.3(CLN8): c.562_563delCT (p.Leu188Valfs)deletionLikely pathogenicrs386834132GRCh37Chr 8, 1728434: 1728435
87CLN8NM_018941.3(CLN8): c.581A> G (p.Gln194Arg)single nucleotide variantLikely pathogenicrs386834133GRCh37Chr 8, 1728453: 1728453
88CLN8NM_018941.3(CLN8): c.611G> T (p.Arg204Leu)single nucleotide variantLikely pathogenicrs386834134GRCh37Chr 8, 1728483: 1728483
89CLN8NM_018941.3(CLN8): c.637_639delTGG (p.Trp213del)deletionLikely pathogenicrs386834135GRCh37Chr 8, 1728509: 1728511
90CLN8NM_018941.3(CLN8): c.661G> A (p.Gly221Ser)single nucleotide variantLikely pathogenicrs386834136GRCh37Chr 8, 1728533: 1728533
91CLN8NM_018941.3(CLN8): c.66delG (p.Ile23Serfs)deletionLikely pathogenicrs386834137GRCh37Chr 8, 1719286: 1719286
92CLN8NM_018941.3(CLN8): c.766C> G (p.Gln256Glu)single nucleotide variantLikely pathogenicrs386834138GRCh37Chr 8, 1728638: 1728638
93CLN8NM_018941.3(CLN8): c.88delG (p.Ala30Leufs)deletionLikely pathogenicrs386834139GRCh37Chr 8, 1719308: 1719308

Expression for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 3

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Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 3.

Pathways for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 3

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Pathways related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CLN3, TPP1

Compounds for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 3

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Sources:
45Novoseek, 26HMDB
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Compounds related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mannose 6-phosphate45 2610.3CLN3, TPP1

GO Terms for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 3

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Cellular components related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00057839.0CLN3, CLN8
2lysosomeGO:00057649.0CLN3, TPP1
3mitochondrionGO:00057398.4CLN3, CLN8, TPP1

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1ceramide metabolic processGO:00066729.1CLN3, CLN8
2negative regulation of proteolysisGO:00458619.0CLN3, CLN8
3negative regulation of apoptotic processGO:00430669.0CLN3, CLN8
4associative learningGO:00083068.9CLN8, CLN3
5nervous system developmentGO:00073998.8CLN8, TPP1
6protein catabolic processGO:00301638.7CLN3, CLN8, TPP1
7lysosome organizationGO:00070408.7TPP1, CLN8, CLN3
8neuromuscular process controlling balanceGO:00508858.7CLN3, CLN8, TPP1
9cell deathGO:00082198.6TPP1, CLN8, CLN3

Products for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 3

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

Sources for Ceroid Lipofuscinosis, Neuronal, 3

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet