MCID: CRD043
MIFTS: 37

Ceroid Storage Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Ceroid Storage Disease

MalaCards integrated aliases for Ceroid Storage Disease:

Name: Ceroid Storage Disease 58 54
Lipofuscin Storage Disease 58 54
Neuronal Ceroid-Lipofuscinoses 74

Characteristics:

OMIM:

58
Inheritance:
? autosomal recessive


Classifications:



External Ids:

OMIM 58 214200
MedGen 43 C0027877
SNOMED-CT via HPO 70 59927004
UMLS 74 C0027877

Summaries for Ceroid Storage Disease

MalaCards based summary : Ceroid Storage Disease, also known as lipofuscin storage disease, is related to cerebral atrophy and ceroid lipofuscinosis, neuronal, 13. An important gene associated with Ceroid Storage Disease is CLN3 (CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin), and among its related pathways/superpathways is Lysosome. The drugs Cysteamine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and brain, and related phenotypes are abnormality of the spleen and hepatic failure

Description from OMIM: 214200

Related Diseases for Ceroid Storage Disease

Graphical network of the top 20 diseases related to Ceroid Storage Disease:



Diseases related to Ceroid Storage Disease

Symptoms & Phenotypes for Ceroid Storage Disease

Human phenotypes related to Ceroid Storage Disease:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the spleen 33 HP:0001743
2 hepatic failure 33 HP:0001399

Symptoms via clinical synopsis from OMIM:

58
Liver:
liver failure
macrophage ceroid deposits

G I:
mucosal ceroid deposits

Spleen:
ceroid deposits

Clinical features from OMIM:

214200

MGI Mouse Phenotypes related to Ceroid Storage Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 CLN3 CLN6 CLN8 DNAJC5 PPT1 TPP1
2 mortality/aging MP:0010768 9.63 CLN3 CLN6 CLN8 DNAJC5 PPT1 TPP1
3 nervous system MP:0003631 9.5 CLN3 CLN5 CLN6 CLN8 DNAJC5 PPT1
4 vision/eye MP:0005391 9.1 CLN3 CLN5 CLN6 CLN8 DNAJC5 PPT1

Drugs & Therapeutics for Ceroid Storage Disease

Drugs for Ceroid Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
2
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
3 Antioxidants Phase 4
4 Expectorants Phase 4
5 N-monoacetylcystine Phase 4
6 Antidotes Phase 4
7 Antiviral Agents Phase 4
8 Free Radical Scavengers Phase 4
9 Anti-Infective Agents Phase 4,Phase 2
10 Respiratory System Agents Phase 4
11 Protective Agents Phase 4
12
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
13
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
14
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
15
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
16
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
17
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
18
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
19 Antilymphocyte Serum Phase 2, Phase 3
20 Antirheumatic Agents Phase 2, Phase 3
21 Methylprednisolone Acetate Phase 2, Phase 3
22 Immunologic Factors Phase 2, Phase 3
23 Alkylating Agents Phase 2, Phase 3
24 Immunosuppressive Agents Phase 2, Phase 3
25 Antineoplastic Agents, Alkylating Phase 2, Phase 3
26 Prednisolone acetate Phase 2, Phase 3
27
Mycophenolic acid Approved Phase 2 24280-93-1 446541
28
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
29 Anti-Bacterial Agents Phase 2
30 Antibiotics, Antitubercular Phase 2
31 Antitubercular Agents Phase 2

Interventional clinical trials:

(show all 27)
# 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 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
4 Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis Completed NCT01399047 Phase 2 Mycophenolate mofetil;Liquid Placebo
5 Gene Transfer Study of AAV9-CLN3 for Treatment NCL Type 3 Recruiting NCT03770572 Phase 1, Phase 2
6 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01414985 Phase 1, Phase 2
7 Batten CLN6 Gene Therapy Active, not recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
8 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
9 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
10 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
11 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
12 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
13 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
14 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
15 Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
16 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
17 Genotype - Phenotype Correlations of LINCL Completed NCT00151268
18 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis Recruiting NCT03307304
19 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
20 Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae Recruiting NCT03285425
21 A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease Recruiting NCT03822650
22 Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease Recruiting NCT03862274
23 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
24 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
25 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
26 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
27 Collection of Cerebrospinal Fluid in Healthy Children Terminated NCT01698229

Search NIH Clinical Center for Ceroid Storage Disease

Genetic Tests for Ceroid Storage Disease

Anatomical Context for Ceroid Storage Disease

MalaCards organs/tissues related to Ceroid Storage Disease:

42
Liver, Spleen, Brain

Publications for Ceroid Storage Disease

Articles related to Ceroid Storage Disease:

# Title Authors Year
1
A suspected lipofuscin storage disease of sheep associated with ingestion of the plant, Trachyandra divaricata (Jacq.) Kunth. ( 4047621 )
1985
2
Sea-blue histiocytes, lymphocytic cytosomes, movement disorder and 59Fe-uptake in basal ganglia: Hallervorden-Spatz disease or ceroid storage disease with abnormal isotope scan? ( 6681873 )
1983
3
Lipofuscin (ceroid) storage disease of the brain neuropathological and neurochemical studies. ( 5507017 )
1970
4
Ceroid storage disease, complicated by rupture of the spleen. ( 5775005 )
1969
5
LIVER CHANGES IN CEROID STORAGE DISEASE IN CHILDHOOD. A CORRELATED LIGHT AND ELECTRON MICROSCOPIC STUDY. ( 14154713 )
1964
6
Ceroid storage disease in childhood. ( 13657591 )
1959

Variations for Ceroid Storage Disease

ClinVar genetic disease variations for Ceroid Storage Disease:

6 (show top 50) (show all 903)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN5 NM_006493.2(CLN5): c.2T> C (p.Met1Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201615354 GRCh37 Chromosome 13, 77566088: 77566088
2 CLN5 NM_006493.2(CLN5): c.2T> C (p.Met1Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201615354 GRCh38 Chromosome 13, 76991953: 76991953
3 TPP1 NM_000391.3(TPP1): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204753 GRCh38 Chromosome 11, 6615217: 6615217
4 TPP1 NM_000391.3(TPP1): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204753 GRCh37 Chromosome 11, 6636448: 6636448
5 CLN5 NM_006493.2(CLN5): c.924_925delAT (p.Phe309Serfs) deletion Pathogenic/Likely pathogenic rs786204644 GRCh37 Chromosome 13, 77574804: 77574805
6 CLN5 NM_006493.2(CLN5): c.924_925delAT (p.Phe309Serfs) deletion Pathogenic/Likely pathogenic rs786204644 GRCh38 Chromosome 13, 77000669: 77000670
7 CLN5 NM_006493.2(CLN5): c.61C> T (p.Pro21Ser) single nucleotide variant Benign/Likely benign rs200353554 GRCh37 Chromosome 13, 77566147: 77566147
8 CLN5 NM_006493.2(CLN5): c.61C> T (p.Pro21Ser) single nucleotide variant Benign/Likely benign rs200353554 GRCh38 Chromosome 13, 76992012: 76992012
9 CLN6 NM_017882.2(CLN6): c.53C> T (p.Ala18Val) single nucleotide variant Conflicting interpretations of pathogenicity rs547125345 GRCh37 Chromosome 15, 68521870: 68521870
10 CLN6 NM_017882.2(CLN6): c.53C> T (p.Ala18Val) single nucleotide variant Conflicting interpretations of pathogenicity rs547125345 GRCh38 Chromosome 15, 68229532: 68229532
11 CLN6 NM_017882.2(CLN6): c.64G> T (p.Ala22Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs527373013 GRCh37 Chromosome 15, 68521859: 68521859
12 CLN6 NM_017882.2(CLN6): c.64G> T (p.Ala22Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs527373013 GRCh38 Chromosome 15, 68229521: 68229521
13 TPP1 NM_000391.3(TPP1): c.1241A> T (p.Asn414Ile) single nucleotide variant Uncertain significance rs146798796 GRCh37 Chromosome 11, 6636698: 6636698
14 TPP1 NM_000391.3(TPP1): c.1241A> T (p.Asn414Ile) single nucleotide variant Uncertain significance rs146798796 GRCh38 Chromosome 11, 6615467: 6615467
15 CLN3 NM_001042432.1(CLN3): c.776C> T (p.Pro259Leu) single nucleotide variant Uncertain significance rs137858807 GRCh37 Chromosome 16, 28495341: 28495341
16 CLN3 NM_001042432.1(CLN3): c.776C> T (p.Pro259Leu) single nucleotide variant Uncertain significance rs137858807 GRCh38 Chromosome 16, 28484020: 28484020
17 CTSD NM_001909.4(CTSD): c.75G> A (p.Pro25=) single nucleotide variant Conflicting interpretations of pathogenicity rs140563067 GRCh37 Chromosome 11, 1782692: 1782692
18 CTSD NM_001909.4(CTSD): c.75G> A (p.Pro25=) single nucleotide variant Conflicting interpretations of pathogenicity rs140563067 GRCh38 Chromosome 11, 1761462: 1761462
19 CLN8 NM_018941.3(CLN8): c.385C> T (p.Arg129Trp) single nucleotide variant Uncertain significance rs143694317 GRCh37 Chromosome 8, 1719605: 1719605
20 CLN8 NM_018941.3(CLN8): c.385C> T (p.Arg129Trp) single nucleotide variant Uncertain significance rs143694317 GRCh38 Chromosome 8, 1771439: 1771439
21 CLN8 NM_018941.3(CLN8): c.200C> T (p.Ala67Val) single nucleotide variant Uncertain significance rs373957283 GRCh37 Chromosome 8, 1719420: 1719420
22 CLN8 NM_018941.3(CLN8): c.200C> T (p.Ala67Val) single nucleotide variant Uncertain significance rs373957283 GRCh38 Chromosome 8, 1771254: 1771254
23 CLN8 NM_018941.3(CLN8): c.11C> T (p.Ala4Val) single nucleotide variant Benign/Likely benign rs147181589 GRCh37 Chromosome 8, 1719231: 1719231
24 CLN8 NM_018941.3(CLN8): c.11C> T (p.Ala4Val) single nucleotide variant Benign/Likely benign rs147181589 GRCh38 Chromosome 8, 1771065: 1771065
25 CLN6 NM_017882.2(CLN6): c.214G> C (p.Glu72Gln) single nucleotide variant Benign/Likely benign rs104894483 GRCh37 Chromosome 15, 68506711: 68506711
26 CLN6 NM_017882.2(CLN6): c.214G> C (p.Glu72Gln) single nucleotide variant Benign/Likely benign rs104894483 GRCh38 Chromosome 15, 68214373: 68214373
27 CLN8 NM_018941.3(CLN8): c.806A> T (p.Glu269Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139003032 GRCh37 Chromosome 8, 1728678: 1728678
28 CLN8 NM_018941.3(CLN8): c.806A> T (p.Glu269Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139003032 GRCh38 Chromosome 8, 1780512: 1780512
29 DNAJC5 NM_025219.2(DNAJC5): c.144C> T (p.Pro48=) single nucleotide variant Benign rs113987077 GRCh37 Chromosome 20, 62560701: 62560701
30 DNAJC5 NM_025219.2(DNAJC5): c.144C> T (p.Pro48=) single nucleotide variant Benign rs113987077 GRCh38 Chromosome 20, 63929348: 63929348
31 CLN6 NM_017882.2(CLN6): c.316C> T (p.Arg106Cys) single nucleotide variant Uncertain significance rs202226970 GRCh37 Chromosome 15, 68504183: 68504183
32 CLN6 NM_017882.2(CLN6): c.316C> T (p.Arg106Cys) single nucleotide variant Uncertain significance rs202226970 GRCh38 Chromosome 15, 68211845: 68211845
33 TPP1 NM_000391.3(TPP1): c.381-10dupT duplication Conflicting interpretations of pathogenicity rs146315473 GRCh37 Chromosome 11, 6638669: 6638669
34 TPP1 NM_000391.3(TPP1): c.381-10dupT duplication Conflicting interpretations of pathogenicity rs146315473 GRCh38 Chromosome 11, 6617438: 6617438
35 CLN3 NM_001042432.1(CLN3): c.270T> G (p.Phe90Leu) single nucleotide variant Uncertain significance rs145520962 GRCh37 Chromosome 16, 28499936: 28499936
36 CLN3 NM_001042432.1(CLN3): c.270T> G (p.Phe90Leu) single nucleotide variant Uncertain significance rs145520962 GRCh38 Chromosome 16, 28488615: 28488615
37 CLN3 NM_001042432.1(CLN3): c.250C> A (p.His84Asn) single nucleotide variant Uncertain significance rs201329358 GRCh37 Chromosome 16, 28499956: 28499956
38 CLN3 NM_001042432.1(CLN3): c.250C> A (p.His84Asn) single nucleotide variant Uncertain significance rs201329358 GRCh38 Chromosome 16, 28488635: 28488635
39 CLN3 NM_001042432.1(CLN3): c.240G> A (p.Thr80=) single nucleotide variant Benign/Likely benign rs373911322 GRCh37 Chromosome 16, 28499966: 28499966
40 CLN3 NM_001042432.1(CLN3): c.240G> A (p.Thr80=) single nucleotide variant Benign/Likely benign rs373911322 GRCh38 Chromosome 16, 28488645: 28488645
41 TPP1 NM_000391.3(TPP1): c.542C> T (p.Ser181Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs139059149 GRCh37 Chromosome 11, 6638351: 6638351
42 TPP1 NM_000391.3(TPP1): c.542C> T (p.Ser181Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs139059149 GRCh38 Chromosome 11, 6617120: 6617120
43 CLN6 NM_017882.2(CLN6): c.923G> C (p.Ser308Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143578698 GRCh37 Chromosome 15, 68500491: 68500491
44 CLN6 NM_017882.2(CLN6): c.923G> C (p.Ser308Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143578698 GRCh38 Chromosome 15, 68208153: 68208153
45 TPP1 NM_000391.3(TPP1): c.1016G> A (p.Arg339Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs765380155 GRCh37 Chromosome 11, 6637605: 6637605
46 TPP1 NM_000391.3(TPP1): c.1016G> A (p.Arg339Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs765380155 GRCh38 Chromosome 11, 6616374: 6616374
47 CLN8 NM_018941.3(CLN8): c.53A> T (p.Tyr18Phe) single nucleotide variant Uncertain significance rs142104002 GRCh38 Chromosome 8, 1771107: 1771107
48 CLN8 NM_018941.3(CLN8): c.53A> T (p.Tyr18Phe) single nucleotide variant Uncertain significance rs142104002 GRCh37 Chromosome 8, 1719273: 1719273
49 CLN8 NM_018941.3(CLN8): c.59C> G (p.Ser20Cys) single nucleotide variant Uncertain significance rs749651452 GRCh37 Chromosome 8, 1719279: 1719279
50 CLN8 NM_018941.3(CLN8): c.59C> G (p.Ser20Cys) single nucleotide variant Uncertain significance rs749651452 GRCh38 Chromosome 8, 1771113: 1771113

Expression for Ceroid Storage Disease

Search GEO for disease gene expression data for Ceroid Storage Disease.

Pathways for Ceroid Storage Disease

Pathways related to Ceroid Storage Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.01 CLN3 CLN5 PPT1 TPP1

GO Terms for Ceroid Storage Disease

Cellular components related to Ceroid Storage Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.62 CLN3 CLN5 CLN6 CLN8
2 melanosome GO:0042470 9.37 DNAJC5 TPP1
3 lysosomal membrane GO:0005765 9.33 CLN3 CLN5 DNAJC5
4 lysosomal lumen GO:0043202 9.26 PPT1 TPP1
5 synaptic vesicle GO:0008021 9.13 CLN3 DNAJC5 PPT1
6 lysosome GO:0005764 8.92 CLN3 CLN5 PPT1 TPP1

Biological processes related to Ceroid Storage Disease according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.71 CLN8 PPT1 TPP1
2 negative regulation of neuron apoptotic process GO:0043524 9.58 CLN3 DNAJC5 PPT1
3 negative regulation of apoptotic process GO:0043066 9.55 CLN3 PPT1
4 cholesterol metabolic process GO:0008203 9.52 CLN6 CLN8
5 negative regulation of proteolysis GO:0045861 9.49 CLN3 CLN8
6 visual perception GO:0007601 9.48 CLN6 PPT1
7 ceramide metabolic process GO:0006672 9.46 CLN3 CLN8
8 lysosomal lumen acidification GO:0007042 9.46 CLN3 CLN5 CLN6 PPT1
9 neuromuscular process controlling balance GO:0050885 9.37 CLN3 TPP1
10 associative learning GO:0008306 9.32 CLN3 PPT1
11 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
12 lysosome organization GO:0007040 9.26 CLN3 CLN6 PPT1 TPP1
13 adult locomotory behavior GO:0008344 9.21 PPT1
14 cellular protein catabolic process GO:0044257 9.13 PPT1
15 protein catabolic process GO:0030163 9.1 CLN3 CLN5 CLN6 CLN8 PPT1 TPP1

Sources for Ceroid Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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