MCID: CRD186
MIFTS: 50

Ceroid Lipofuscinosis, Neuronal, 3

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 3

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 3:

Name: Ceroid Lipofuscinosis, Neuronal, 3 54 71 13
Juvenile Neuronal Ceroid Lipofuscinosis 12 50 25 56 71 29 69
Batten Disease 12 51 56 71 52 14
Neuronal Ceroid Lipofuscinosis 3 12 50 24
Cln3 Disease 24 25 56
Cln3-Related Neuronal Ceroid-Lipofuscinosis 24 25
Spielmeyer-Vogt Disease 25 56
Cln3 12 71
Jncl 56 71
Juvenile Cerebroretinal Degeneration 25
Batten-Spielmeyer-Vogt Disease 25
Spielmeyer Sjogren Disease 50
Spielmeyer-Sjogren Disease 71
Vogt Spielmeyer Disease 50
Juvenile Batten Disease 25
Vogt-Spielmeyer Disease 71
Cln3 Disease, Juvenile 50
Batten-Mayou Disease 25
Spielmeyer-Sjögren 24
Juvenile Ncl 56

Characteristics:

Orphanet epidemiological data:

56
cln3 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;
juvenile neuronal ceroid lipofuscinosis
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;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset at 4 to 10 years
death at 20 to 40 years
variable severity, some patients have a protracted course with little neurologic involvement
1.02 kb genomic deletion in 85% of batten disease alleles worldwide


HPO:

32
ceroid lipofuscinosis, neuronal, 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ceroid Lipofuscinosis, Neuronal, 3

OMIM : 54
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (204200)

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 3, also known as juvenile neuronal ceroid lipofuscinosis, is related to ceroid lipofuscinosis, neuronal, 1 and neuronal ceroid lipofuscinosis, and has symptoms including ataxia, focal seizures and blindness. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 3 is CLN3 (CLN3, Battenin), and among its related pathways/superpathways is Lysosome. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and heart.

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has material basis in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.

Genetics Home Reference : 25 CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.

NIH Rare Diseases : 50 neuronal ceroid lipofuscinosis 3 (cln3-ncl) is a rare condition that affects the nervous system. signs and symptoms generally develop between age 4 and 8 years, although later onset cases have been reported. affected people may experience rapidly progressive vision loss, developmental regression (loss of acquired milestones), cognitive decline, heart problems, seizures, speech disturbances, behavioral problems (including aggression), and movement abnormalities. life expectancy generally ranges from the late teens to the 30's. cln3-ncl is caused by changes (mutations) in the cln3 gene and is inherited in an autosomal recessive manner. treatment options are limited to therapies that can help relieve some of the symptoms. last updated: 9/1/2015

NINDS : 51 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.

UniProtKB/Swiss-Prot : 71 Ceroid lipofuscinosis, neuronal, 3: A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane- bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 3

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 2 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 6 Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 11 Ceroid Lipofuscinosis, Neuronal, 9
Neuronal Ceroid Lipofuscinosis 4a Adult Neuronal Ceroid Lipofuscinosis

Diseases related to Ceroid Lipofuscinosis, Neuronal, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
id Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 1 29.6 CLN3 CLN5 CLN6 CTSD PPT1 TPP1
2 neuronal ceroid lipofuscinosis 11.8
3 neuronal ceroid-lipofuscinoses 11.4
4 ceroid lipofuscinosis, neuronal, 2 10.8
5 ovarian clear cell malignant adenofibroma 10.3 CLN3 PPT1
6 blessig's cysts 10.1 CLN3 CLN5
7 malignant glioma 10.0 CLN3 PPT1 TPP1
8 neuronitis 10.0
9 diarrhea, chronic, with villous atrophy 10.0 CLN5 CLN6
10 mannosidosis, beta 10.0 CLN3 PPT1
11 microcephaly 1, primary, autosomal recessive 9.9 CLN5 CLN6
12 adult-onset nemaline myopathy 9.8 CLN6 PPT1 TPP1
13 macular dystrophy with central cone involvement 9.8 CLN5 CLN6 PPT1
14 glans penis cancer 9.7 CLN5 CLN6 PPT1
15 mental retardation, autosomal dominant 24 9.4 CLN3 CLN5 CLN6 CTSD
16 uterine corpus cancer 9.2 CLN3 CLN5 CLN6 PPT1 TPP1
17 glanzmann thrombasthenia 9.2 CLN3 CLN5 CLN6 CTSD PPT1
18 spinocerebellar ataxia, autosomal recessive 7 8.9 CLN3 CLN5 CLN6 CTSD PPT1 TPP1
19 kashin-beck disease 8.9 CLN3 CLN5 CLN6 CTSD PPT1 TPP1
20 partial arterial retinal occlusion 8.9 CLN3 CLN5 CLN6 CTSD PPT1 TPP1
21 joubert syndrome 26 6.1 BAMBI BTN1A1 CLN3 CLN5 CLN6 CTSD

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



Diseases related to Ceroid Lipofuscinosis, Neuronal, 3

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 3

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
mental retardation
myoclonus
dysarthria
cerebral atrophy
seizures
more
Hematology:
vacuolated lymphocytes

Laboratory- Abnormalities:
'fingerprint profiles' ultrastructurally in cells
lipopigment in extraneuronal cells
'curvilinear profiles' ultrastructurally in cells

Muscle Soft Tissue:
autophagic vacuoles seen on biopsy (in some patients)
intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients)

Head And Neck- Eyes:
optic atrophy
macular degeneration
retinitis pigmentosa
abolished electroretinogram (erg)
vision loss, progressive (4 to 10 years)
more
Neurologic- Behavioral Psychiatric Manifestations:
psychosis
anxiety
behavioral changes
difficulty in school
mood disturbances

Cardiovascular- Heart:
concentric hypertrophic cardiomyopathy, severe (later onset in protracted cases)


Clinical features from OMIM:

204200

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 3:

56 32 (show all 38)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 focal seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0007359
3 blindness 56 32 hallmark (90%) Very frequent (99-80%) HP:0000618
4 dementia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000726
5 generalized tonic-clonic seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002069
6 retinopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000488
7 abnormal electroretinogram 56 32 hallmark (90%) Very frequent (99-80%) HP:0000512
8 motor deterioration 56 32 hallmark (90%) Very frequent (99-80%) HP:0002333
9 neurological speech impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0002167
10 eeg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0002353
11 abnormal pyramidal signs 56 32 hallmark (90%) Very frequent (99-80%) HP:0007256
12 behavioral abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0000708
13 abnormality of visual evoked potentials 56 32 hallmark (90%) Very frequent (99-80%) HP:0000649
14 abnormality of extrapyramidal motor function 56 32 hallmark (90%) Very frequent (99-80%) HP:0002071
15 iris hypopigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007730
16 progressive visual loss 32 HP:0000529
17 visual impairment 56 Very frequent (99-80%)
18 optic atrophy 32 HP:0000648
19 myoclonus 32 HP:0001336
20 dysarthria 32 HP:0001260
21 cerebral atrophy 32 HP:0002059
22 seizures 32 HP:0001250
23 vacuolated lymphocytes 32 HP:0001922
24 parkinsonism 32 HP:0001300
25 macular degeneration 32 HP:0000608
26 intellectual disability 32 HP:0001249
27 psychosis 32 HP:0000709
28 rod-cone dystrophy 32 HP:0000510
29 mental deterioration 56 Very frequent (99-80%)
30 anxiety 32 HP:0000739
31 progressive inability to walk 32 HP:0002505
32 abnormality of the cerebellum 32 HP:0001317
33 psychomotor deterioration 32 HP:0002361
34 increased neuronal autofluorescent lipopigment 32 HP:0002074
35 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003205
36 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003208
37 undetectable electroretinogram 32 HP:0000550
38 increased extraneuronal autofluorescent lipopigment 32 HP:0003463

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 3:


myoclonus, seizures, abnormality of extrapyramidal motor function

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 3

Drugs for Ceroid Lipofuscinosis, Neuronal, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
3 Antidotes Phase 4
4 Anti-Infective Agents Phase 4
5 Antioxidants Phase 4
6 Antiviral Agents Phase 4
7 Expectorants Phase 4
8 N-monoacetylcystine Phase 4
9 Protective Agents Phase 4
10 Respiratory System Agents Phase 4
11
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
13
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
14
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
15 Alkylating Agents Phase 2, Phase 3
16 Antilymphocyte Serum Phase 2, Phase 3
17 Antirheumatic Agents Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
19 Methylprednisolone acetate Phase 2, Phase 3
20 Methylprednisolone Hemisuccinate Phase 2, Phase 3
21 Prednisolone acetate Phase 2, Phase 3
22 Prednisolone hemisuccinate Phase 2, Phase 3
23 Prednisolone phosphate Phase 2, Phase 3
24
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
25
Mycophenolic acid Approved Phase 2 24280-93-1 446541
26
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
27 Anti-Bacterial Agents Phase 2
28 Antibiotics, Antitubercular Phase 2
29
Menthol Approved Phase 1 2216-51-5 16666

Interventional clinical trials:

(show all 23)

id Name Status NCT ID Phase Drugs
1 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
2 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
3 Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis Completed NCT01399047 Phase 2 Mycophenolate mofetil;Liquid Placebo
4 A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease Completed NCT01907087 Phase 1, Phase 2
5 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Recruiting NCT01414985 Phase 1, Phase 2
6 Batten CLN6 Gene Therapy Recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
7 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Active, not recruiting NCT02485899 Phase 1, Phase 2
8 A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Enrolling by invitation NCT02678689 Phase 2 BMN190 recombinant human tripeptidyl peptidase-1 (rhTPP1)
9 Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) Completed NCT00337636 Phase 1 Medication to suppress the immune system
10 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Recruiting NCT01161576 Phase 1
11 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
12 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
13 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
14 Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
15 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
16 Genotype - Phenotype Correlations of LINCL Completed NCT00151268
17 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis Recruiting NCT03307304
18 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
19 Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae Recruiting NCT03285425
20 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Recruiting NCT01035424
21 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
22 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
23 Collection of Cerebrospinal Fluid in Healthy Children Terminated NCT01698229

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 3

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 3

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 3:

id Genetic test Affiliating Genes
1 Juvenile Neuronal Ceroid Lipofuscinosis 29
2 Cln3 Disease 24 CLN3

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 3

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

39
Eye, Testes, Heart, Skin, Brain, Cerebellum

Publications for Ceroid Lipofuscinosis, Neuronal, 3

Articles related to Ceroid Lipofuscinosis, Neuronal, 3:

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

Variations for Ceroid Lipofuscinosis, Neuronal, 3

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

71
id Symbol AA change Variation ID SNP ID
1 CLN3 p.Leu101Pro VAR_005131 rs386833714
2 CLN3 p.Leu170Pro VAR_005132 rs386833727
3 CLN3 p.Glu295Lys VAR_005133 rs121434286
4 CLN3 p.Val330Phe VAR_005134 rs386833744
5 CLN3 p.Arg334Cys VAR_005135 rs386833694
6 CLN3 p.Arg334His VAR_005136 rs386833695
7 CLN3 p.Cys134Arg VAR_066892 rs386833719
8 CLN3 p.Gly187Ala VAR_066893 rs386833730
9 CLN3 p.Gly189Arg VAR_066894 rs386833731

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

6 (show top 50) (show all 70)
id Gene Variation Type Significance SNP ID Assembly Location
1 CLN3 NM_001042432.1(CLN3): c.461-280_677+382del deletion Pathogenic GRCh37 Chromosome 16, 28497286: 28498251
2 CLN3 CLN3, 3-KB DEL, NT928 deletion Pathogenic
3 CLN3 CLN3, 6-KB DEL deletion Pathogenic
4 CLN3 CLN3, IVSDS, G-C, +1/76-BP DEL deletion Pathogenic
5 CLN3 NM_000086.2(CLN3): c.883G> A (p.Glu295Lys) single nucleotide variant Pathogenic rs121434286 GRCh37 Chromosome 16, 28493821: 28493821
6 CLN3 NM_001042432.1(CLN3): c.597C> A (p.Tyr199Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606737 GRCh37 Chromosome 16, 28497748: 28497748
7 CLN3 NM_001042432.1(CLN3): c.1000C> T (p.Arg334Cys) single nucleotide variant Likely pathogenic rs386833694 GRCh37 Chromosome 16, 28493482: 28493482
8 CLN3 NM_001042432.1(CLN3): c.1001G> A (p.Arg334His) single nucleotide variant Likely pathogenic rs386833695 GRCh37 Chromosome 16, 28493481: 28493481
9 CLN3 NM_001042432.1(CLN3): c.1048delC (p.Leu350Cysfs) deletion Likely pathogenic rs386833696 GRCh37 Chromosome 16, 28493434: 28493434
10 CLN3 NM_001042432.1(CLN3): c.1054C> T (p.Gln352Ter) single nucleotide variant Likely pathogenic rs386833697 GRCh37 Chromosome 16, 28493428: 28493428
11 CLN3 NM_001042432.1(CLN3): c.1056+3A> C single nucleotide variant Likely pathogenic rs386833698 GRCh37 Chromosome 16, 28493423: 28493423
12 CLN3 NM_001042432.1(CLN3): c.1056G> C (p.Gln352His) single nucleotide variant Likely pathogenic rs386833699 GRCh37 Chromosome 16, 28493426: 28493426
13 CLN3 NM_001042432.1(CLN3): c.105G> A (p.Trp35Ter) single nucleotide variant Likely pathogenic rs386833700 GRCh37 Chromosome 16, 28502823: 28502823
14 CLN3 NM_001042432.1(CLN3): c.1195G> T (p.Glu399Ter) single nucleotide variant Likely pathogenic rs386833701 GRCh37 Chromosome 16, 28489060: 28489060
15 CLN3 NM_001042432.1(CLN3): c.1198-1G> T single nucleotide variant Likely pathogenic rs386833702 GRCh37 Chromosome 16, 28488957: 28488957
16 CLN3 NM_001042432.1(CLN3): c.1247A> G (p.Asp416Gly) single nucleotide variant Likely pathogenic rs386833703 GRCh37 Chromosome 16, 28488907: 28488907
17 CLN3 NM_001042432.1(CLN3): c.125+5G> A single nucleotide variant Likely pathogenic rs386833704 GRCh37 Chromosome 16, 28502798: 28502798
18 CLN3 NM_001042432.1(CLN3): c.126-1G> A single nucleotide variant Likely pathogenic rs386833705 GRCh37 Chromosome 16, 28500708: 28500708
19 CLN3 NM_001042432.1(CLN3): c.1268C> A (p.Ser423Ter) single nucleotide variant Likely pathogenic rs386833706 GRCh37 Chromosome 16, 28488886: 28488886
20 CLN3 NM_001042432.1(CLN3): c.1272delG (p.Leu425Serfs) deletion Likely pathogenic rs386833707 GRCh37 Chromosome 16, 28488882: 28488882
21 CLN3 NM_001042432.1(CLN3): c.1A> C (p.Met1Leu) single nucleotide variant Likely pathogenic rs386833708 GRCh37 Chromosome 16, 28503080: 28503080
22 CLN3 NM_001042432.1(CLN3): c.214C> T (p.Gln72Ter) single nucleotide variant Likely pathogenic rs386833709 GRCh37 Chromosome 16, 28500619: 28500619
23 CLN3 NM_001042432.1(CLN3): c.222+2T> G single nucleotide variant Likely pathogenic rs386833710 GRCh37 Chromosome 16, 28500609: 28500609
24 CLN3 NM_001042432.1(CLN3): c.222+5G> C single nucleotide variant Likely pathogenic rs386833711 GRCh37 Chromosome 16, 28500606: 28500606
25 CLN3 NM_001042432.1(CLN3): c.233dupG (p.Thr80Asnfs) duplication Likely pathogenic rs386833712 GRCh37 Chromosome 16, 28499973: 28499973
26 CLN3 NM_001042432.1(CLN3): c.265C> T (p.Arg89Ter) single nucleotide variant Likely pathogenic rs386833713 GRCh37 Chromosome 16, 28499941: 28499941
27 CLN3 NM_001042432.1(CLN3): c.302T> C (p.Leu101Pro) single nucleotide variant Likely pathogenic rs386833714 GRCh37 Chromosome 16, 28499055: 28499055
28 CLN3 NM_001042432.1(CLN3): c.370dupT (p.Tyr124Leufs) duplication Likely pathogenic rs386833715 GRCh37 Chromosome 16, 28498987: 28498987
29 CLN3 NM_001042432.1(CLN3): c.374G> A (p.Ser125Asn) single nucleotide variant Likely pathogenic rs386833716 GRCh37 Chromosome 16, 28498983: 28498983
30 CLN3 NM_001042432.1(CLN3): c.378_379dupCC (p.Arg127Profs) duplication Likely pathogenic rs386833717 GRCh37 Chromosome 16, 28498858: 28498859
31 CLN3 NM_001042432.1(CLN3): c.379delC (p.Arg127Glyfs) deletion Likely pathogenic rs386833718 GRCh37 Chromosome 16, 28498858: 28498858
32 CLN3 NM_001042432.1(CLN3): c.400T> C (p.Cys134Arg) single nucleotide variant Likely pathogenic rs386833719 GRCh37 Chromosome 16, 28498837: 28498837
33 CLN3 NM_001042432.1(CLN3): c.424delG (p.Val142Leufs) deletion Pathogenic/Likely pathogenic rs386833720 GRCh37 Chromosome 16, 28498813: 28498813
34 CLN3 NM_001042432.1(CLN3): c.461-13G> C single nucleotide variant Likely pathogenic rs386833721 GRCh37 Chromosome 16, 28497984: 28497984
35 CLN3 NM_001042432.1(CLN3): c.461-1G> A single nucleotide variant Likely pathogenic rs386833722 GRCh37 Chromosome 16, 28497972: 28497972
36 CLN3 NM_001042432.1(CLN3): c.461-1G> C single nucleotide variant Likely pathogenic rs386833722 GRCh37 Chromosome 16, 28497972: 28497972
37 CLN3 NM_001042432.1(CLN3): c.472G> C (p.Ala158Pro) single nucleotide variant Likely pathogenic rs386833723 GRCh37 Chromosome 16, 28497960: 28497960
38 CLN3 NM_001042432.1(CLN3): c.482C> G (p.Ser161Ter) single nucleotide variant Likely pathogenic rs386833724 GRCh37 Chromosome 16, 28497950: 28497950
39 CLN3 NM_001042432.1(CLN3): c.485C> G (p.Ser162Ter) single nucleotide variant Likely pathogenic rs386833725 GRCh37 Chromosome 16, 28497947: 28497947
40 CLN3 NM_001042432.1(CLN3): c.49G> T (p.Glu17Ter) single nucleotide variant Likely pathogenic rs386833726 GRCh37 Chromosome 16, 28502879: 28502879
41 CLN3 NM_001042432.1(CLN3): c.509T> C (p.Leu170Pro) single nucleotide variant Likely pathogenic rs386833727 GRCh37 Chromosome 16, 28497923: 28497923
42 CLN3 NM_001042432.1(CLN3): c.533+1G> A single nucleotide variant Likely pathogenic rs386833728 GRCh37 Chromosome 16, 28497898: 28497898
43 CLN3 NM_001042432.1(CLN3): c.533+1G> C single nucleotide variant Likely pathogenic rs386833728 GRCh37 Chromosome 16, 28497898: 28497898
44 CLN3 NM_001042432.1(CLN3): c.558_559delAG (p.Gly187Aspfs) deletion Likely pathogenic rs386833729 GRCh37 Chromosome 16, 28497786: 28497787
45 CLN3 NM_001042432.1(CLN3): c.560G> C (p.Gly187Ala) single nucleotide variant Likely pathogenic rs386833730 GRCh37 Chromosome 16, 28497785: 28497785
46 CLN3 NM_001042432.1(CLN3): c.565G> C (p.Gly189Arg) single nucleotide variant Likely pathogenic rs386833731 GRCh37 Chromosome 16, 28497780: 28497780
47 CLN3 NM_001042432.1(CLN3): c.569delG (p.Gly190Glufs) deletion Likely pathogenic rs386833732 GRCh37 Chromosome 16, 28497776: 28497776
48 CLN3 NM_001042432.1(CLN3): c.575G> A (p.Gly192Glu) single nucleotide variant Likely pathogenic rs386833733 GRCh37 Chromosome 16, 28497770: 28497770
49 CLN3 NM_001042432.1(CLN3): c.586dupG (p.Ala196Glyfs) duplication Likely pathogenic rs386833735 GRCh37 Chromosome 16, 28497759: 28497759
50 CLN3 NM_001042432.1(CLN3): c.622dupT (p.Ser208Phefs) duplication Likely pathogenic rs386833736 GRCh37 Chromosome 16, 28497723: 28497723

Expression for Ceroid Lipofuscinosis, Neuronal, 3

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

Pathways for Ceroid Lipofuscinosis, Neuronal, 3

Pathways related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.11 CLN3 CLN5 CTSD PPT1 TPP1

GO Terms for Ceroid Lipofuscinosis, Neuronal, 3

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.33 CLN3 CTSD PPT1
2 specific granule lumen GO:0035580 9.32 CTSD HP
3 tertiary granule lumen GO:1904724 9.26 CTSD HP
4 lysosomal lumen GO:0043202 9.13 CTSD PPT1 TPP1
5 lysosome GO:0005764 9.02 CLN3 CLN5 CTSD PPT1 TPP1

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.67 CLN3 HP PPT1
2 IRE1-mediated unfolded protein response GO:0036498 9.52 SULT1A3 TPP1
3 neuromuscular process controlling balance GO:0050885 9.51 CLN3 TPP1
4 associative learning GO:0008306 9.48 CLN3 PPT1
5 3-phosphoadenosine 5-phosphosulfate metabolic process GO:0050427 9.46 SULT1A1 SULT1A3
6 lysosome organization GO:0007040 9.46 CLN3 CLN6 PPT1 TPP1
7 ethanol catabolic process GO:0006068 9.43 SULT1A1 SULT1A3
8 catecholamine metabolic process GO:0006584 9.4 SULT1A1 SULT1A3
9 sulfation GO:0051923 9.37 SULT1A1 SULT1A3
10 flavonoid metabolic process GO:0009812 9.32 SULT1A1 SULT1A3
11 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
12 lysosomal lumen acidification GO:0007042 9.26 CLN3 CLN5 CLN6 PPT1
13 protein catabolic process GO:0030163 9.1 CLN3 CLN5 CLN6 CTSD PPT1 TPP1

Molecular functions related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sulfotransferase activity GO:0008146 9.16 SULT1A1 SULT1A3
2 serine-type endopeptidase activity GO:0004252 9.13 CTSD HP TPP1
3 aryl sulfotransferase activity GO:0004062 8.62 SULT1A1 SULT1A3

Sources for Ceroid Lipofuscinosis, Neuronal, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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