MCID: CRD043
MIFTS: 36

Ceroid Storage Disease

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Ceroid Storage Disease

MalaCards integrated aliases for Ceroid Storage Disease:

Name: Ceroid Storage Disease 57 53
Lipofuscin Storage Disease 57 53
Neuronal Ceroid-Lipofuscinoses 73

Characteristics:

OMIM:

57
Inheritance:
? autosomal recessive


Classifications:



External Ids:

OMIM 57 214200
MedGen 42 C0027877
SNOMED-CT via HPO 69 59927004

Summaries for Ceroid Storage Disease

MalaCards based summary : Ceroid Storage Disease, also known as lipofuscin storage disease, is related to movement disease and inherited metabolic disorder. An important gene associated with Ceroid Storage Disease is PPT1 (Palmitoyl-Protein Thioesterase 1), 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 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

Symptoms via clinical synopsis from OMIM:

57
Liver:
liver failure
macrophage ceroid deposits

GI:
mucosal ceroid deposits

Spleen:
ceroid deposits


Clinical features from OMIM:

214200

Human phenotypes related to Ceroid Storage Disease:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the spleen 32 HP:0001743
2 hepatic failure 32 HP:0001399

MGI Mouse Phenotypes related to Ceroid Storage Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 CLN8 DNAJC5 PPT1 TPP1 CLN3 CLN6
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
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,Phase 2
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 Antineoplastic Agents, Alkylating Phase 2, Phase 3
18 Antirheumatic Agents Phase 2, Phase 3
19 Immunosuppressive Agents Phase 2, Phase 3
20 Methylprednisolone acetate Phase 2, Phase 3
21 Methylprednisolone Hemisuccinate Phase 2, Phase 3
22 Prednisolone acetate Phase 2, Phase 3
23 Prednisolone hemisuccinate Phase 2, Phase 3
24 Prednisolone phosphate Phase 2, Phase 3
25
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 2 24280-93-1 446541
27
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
28 Anti-Bacterial Agents Phase 2
29 Antibiotics, Antitubercular Phase 2
30 Antitubercular Agents Phase 2
31
Menthol Approved Phase 1 2216-51-5 16666

Interventional clinical trials:

(show all 24)
# 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 Batten CLN6 Gene Therapy Recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
6 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01414985 Phase 1, Phase 2
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
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 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
11 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
12 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
13 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
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 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
21 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
22 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
23 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
24 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:

41
Liver, Spleen, Brain

Publications for Ceroid Storage Disease

Articles related to Ceroid Storage Disease:

# Title Authors Year
1
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
2
Lipofuscin (ceroid) storage disease of the brain neuropathological and neurochemical studies. ( 5507017 )
1970
3
Ceroid storage disease, complicated by rupture of the spleen. ( 5775005 )
1969
4
LIVER CHANGES IN CEROID STORAGE DISEASE IN CHILDHOOD. A CORRELATED LIGHT AND ELECTRON MICROSCOPIC STUDY. ( 14154713 )
1964
5
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 581)
# Gene Variation Type Significance SNP ID Assembly Location
1 TPP1 NM_000391.3(TPP1): c.1094G> A (p.Cys365Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs119455954 GRCh37 Chromosome 11, 6637287: 6637287
2 TPP1 NM_000391.3(TPP1): c.1094G> A (p.Cys365Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs119455954 GRCh38 Chromosome 11, 6616056: 6616056
3 TPP1 NM_000391.3(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 GRCh37 Chromosome 11, 6638271: 6638271
4 TPP1 NM_000391.3(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 GRCh38 Chromosome 11, 6617040: 6617040
5 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh37 Chromosome 11, 6638385: 6638385
6 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh38 Chromosome 11, 6617154: 6617154
7 TPP1 NM_000391.3(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 GRCh37 Chromosome 11, 6637927: 6637927
8 TPP1 NM_000391.3(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 GRCh38 Chromosome 11, 6616696: 6616696
9 CLN6 NM_017882.2(CLN6): c.395_396delCT (p.Ser132Cysfs) deletion Pathogenic rs774543080 GRCh38 Chromosome 15, 68211765: 68211766
10 CLN6 NM_017882.2(CLN6): c.395_396delCT (p.Ser132Cysfs) deletion Pathogenic rs774543080 GRCh37 Chromosome 15, 68504103: 68504104
11 PPT1 NM_000310.3(PPT1): c.364A> T (p.Arg122Trp) single nucleotide variant Pathogenic rs137852695 GRCh37 Chromosome 1, 40557070: 40557070
12 PPT1 NM_000310.3(PPT1): c.364A> T (p.Arg122Trp) single nucleotide variant Pathogenic rs137852695 GRCh38 Chromosome 1, 40091398: 40091398
13 PPT1 NM_000310.3(PPT1): c.451C> T (p.Arg151Ter) single nucleotide variant Pathogenic rs137852700 GRCh37 Chromosome 1, 40555167: 40555167
14 PPT1 NM_000310.3(PPT1): c.451C> T (p.Arg151Ter) single nucleotide variant Pathogenic rs137852700 GRCh38 Chromosome 1, 40089495: 40089495
15 DNAJC5 NM_025219.2(DNAJC5): c.346_348delCTC (p.Leu116del) deletion Pathogenic rs587776892 GRCh37 Chromosome 20, 62562228: 62562230
16 DNAJC5 NM_025219.2(DNAJC5): c.346_348delCTC (p.Leu116del) deletion Pathogenic rs587776892 GRCh38 Chromosome 20, 63930875: 63930877
17 PPT1 NM_000310.3(PPT1): c.169dupA (p.Met57Asnfs) duplication Pathogenic/Likely pathogenic rs386833634 GRCh37 Chromosome 1, 40558135: 40558135
18 PPT1 NM_000310.3(PPT1): c.169dupA (p.Met57Asnfs) duplication Pathogenic/Likely pathogenic rs386833634 GRCh38 Chromosome 1, 40092463: 40092463
19 PPT1 NM_000310.3(PPT1): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs386833645 GRCh37 Chromosome 1, 40562908: 40562908
20 PPT1 NM_000310.3(PPT1): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs386833645 GRCh38 Chromosome 1, 40097236: 40097236
21 PPT1 NM_000310.3(PPT1): c.536+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386833651 GRCh37 Chromosome 1, 40555081: 40555081
22 PPT1 NM_000310.3(PPT1): c.536+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386833651 GRCh38 Chromosome 1, 40089409: 40089409
23 PPT1 NM_000310.3(PPT1): c.628-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs386833659 GRCh37 Chromosome 1, 40544331: 40544331
24 PPT1 NM_000310.3(PPT1): c.628-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs386833659 GRCh38 Chromosome 1, 40078659: 40078659
25 CLN3 NM_001042432.1(CLN3): c.1000C> T (p.Arg334Cys) single nucleotide variant Likely pathogenic rs386833694 GRCh37 Chromosome 16, 28493482: 28493482
26 CLN3 NM_001042432.1(CLN3): c.1000C> T (p.Arg334Cys) single nucleotide variant Likely pathogenic rs386833694 GRCh38 Chromosome 16, 28482161: 28482161
27 CLN3 NM_001042432.1(CLN3): c.622dupT (p.Ser208Phefs) duplication Pathogenic rs386833736 GRCh37 Chromosome 16, 28497723: 28497723
28 CLN3 NM_001042432.1(CLN3): c.622dupT (p.Ser208Phefs) duplication Pathogenic rs386833736 GRCh38 Chromosome 16, 28486402: 28486402
29 CLN3 NM_001042432.1(CLN3): c.944dupA (p.His315Glnfs) duplication Pathogenic rs386833740 GRCh37 Chromosome 16, 28493666: 28493666
30 CLN3 NM_001042432.1(CLN3): c.944dupA (p.His315Glnfs) duplication Pathogenic rs386833740 GRCh38 Chromosome 16, 28482345: 28482345
31 CLN5 NM_006493.2(CLN5): c.1103_1106delAACA (p.Lys368Serfs) deletion Pathogenic rs386833967 GRCh37 Chromosome 13, 77574983: 77574986
32 CLN5 NM_006493.2(CLN5): c.1103_1106delAACA (p.Lys368Serfs) deletion Pathogenic rs386833967 GRCh38 Chromosome 13, 77000848: 77000851
33 TPP1 NM_000391.3(TPP1): c.1166G> A (p.Gly389Glu) single nucleotide variant Pathogenic rs121908199 GRCh37 Chromosome 11, 6636773: 6636773
34 TPP1 NM_000391.3(TPP1): c.1166G> A (p.Gly389Glu) single nucleotide variant Pathogenic rs121908199 GRCh38 Chromosome 11, 6615542: 6615542
35 TPP1 NM_000391.3(TPP1): c.1266G> C (p.Gln422His) single nucleotide variant Pathogenic rs121908200 GRCh37 Chromosome 11, 6636673: 6636673
36 TPP1 NM_000391.3(TPP1): c.1266G> C (p.Gln422His) single nucleotide variant Pathogenic rs121908200 GRCh38 Chromosome 11, 6615442: 6615442
37 TPP1 NM_000391.3(TPP1): c.617G> A (p.Arg206His) single nucleotide variant Likely pathogenic rs121908209 GRCh37 Chromosome 11, 6638276: 6638276
38 TPP1 NM_000391.3(TPP1): c.617G> A (p.Arg206His) single nucleotide variant Likely pathogenic rs121908209 GRCh38 Chromosome 11, 6617045: 6617045
39 TPP1 NM_000391.3(TPP1): c.1397T> G (p.Val466Gly) single nucleotide variant Pathogenic rs398122959 GRCh37 Chromosome 11, 6636430: 6636430
40 TPP1 NM_000391.3(TPP1): c.1397T> G (p.Val466Gly) single nucleotide variant Pathogenic rs398122959 GRCh38 Chromosome 11, 6615199: 6615199
41 CLN5 NM_006493.2(CLN5): c.2T> C (p.Met1Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201615354 GRCh37 Chromosome 13, 77566088: 77566088
42 CLN5 NM_006493.2(CLN5): c.2T> C (p.Met1Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201615354 GRCh38 Chromosome 13, 76991953: 76991953
43 TPP1 NM_000391.3(TPP1): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204753 GRCh38 Chromosome 11, 6615217: 6615217
44 TPP1 NM_000391.3(TPP1): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204753 GRCh37 Chromosome 11, 6636448: 6636448
45 CLN5 NM_006493.2(CLN5): c.924_925delAT (p.Phe309Serfs) deletion Pathogenic/Likely pathogenic rs786204644 GRCh37 Chromosome 13, 77574804: 77574805
46 CLN5 NM_006493.2(CLN5): c.924_925delAT (p.Phe309Serfs) deletion Pathogenic/Likely pathogenic rs786204644 GRCh38 Chromosome 13, 77000669: 77000670
47 CLN5 NM_006493.2(CLN5): c.61C> T (p.Pro21Ser) single nucleotide variant Benign/Likely benign rs200353554 GRCh37 Chromosome 13, 77566147: 77566147
48 CLN5 NM_006493.2(CLN5): c.61C> T (p.Pro21Ser) single nucleotide variant Benign/Likely benign rs200353554 GRCh38 Chromosome 13, 76992012: 76992012
49 CLN6 NM_017882.2(CLN6): c.53C> T (p.Ala18Val) single nucleotide variant Conflicting interpretations of pathogenicity rs547125345 GRCh37 Chromosome 15, 68521870: 68521870
50 CLN6 NM_017882.2(CLN6): c.53C> T (p.Ala18Val) single nucleotide variant Conflicting interpretations of pathogenicity rs547125345 GRCh38 Chromosome 15, 68229532: 68229532

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 12)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.69 CLN8 PPT1 TPP1
2 negative regulation of neuron apoptotic process GO:0043524 9.5 CLN3 DNAJC5 PPT1
3 cholesterol metabolic process GO:0008203 9.49 CLN6 CLN8
4 neurotransmitter secretion GO:0007269 9.48 DNAJC5 PPT1
5 neuromuscular process controlling balance GO:0050885 9.46 CLN3 TPP1
6 lysosome organization GO:0007040 9.46 CLN3 CLN6 PPT1 TPP1
7 associative learning GO:0008306 9.43 CLN3 PPT1
8 negative regulation of proteolysis GO:0045861 9.4 CLN3 CLN8
9 ceramide metabolic process GO:0006672 9.37 CLN3 CLN8
10 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
11 lysosomal lumen acidification GO:0007042 9.26 CLN3 CLN5 CLN6 PPT1
12 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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