MCID: CRD043
MIFTS: 41

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 57 53
Lipofuscin Storage Disease 57 53
Neuronal Ceroid-Lipofuscinoses 72

Characteristics:

OMIM:

57
Inheritance:
? autosomal recessive


HPO:

32
ceroid storage disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 214200
MedGen 42 C0027877
UMLS 72 C0027877

Summaries for Ceroid Storage Disease

MalaCards based summary : Ceroid Storage Disease, also known as lipofuscin storage disease, is related to immune deficiency disease and pituitary hormone deficiency, combined, 2. 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 Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and bone, and related phenotypes are hepatic failure and abnormality of the spleen

More information 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:

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

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
7
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
8 Alkylating Agents Phase 2, Phase 3
9 Prednisolone acetate Phase 2, Phase 3
10 Methylprednisolone Acetate Phase 2, Phase 3
11 Immunosuppressive Agents Phase 2, Phase 3
12 Antilymphocyte Serum Phase 2, Phase 3
13 Immunologic Factors Phase 2, Phase 3
14 Antirheumatic Agents Phase 2, Phase 3
15 Antineoplastic Agents, Alkylating Phase 2, Phase 3
16
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
17
Mycophenolic acid Approved Phase 2 24280-93-1 446541
18 Anti-Bacterial Agents Phase 2
19 Anti-Infective Agents Phase 2
20 Antitubercular Agents Phase 2
21 Antibiotics, Antitubercular Phase 2

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
2 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 Type 2 (CLN2) Disease Completed NCT01907087 Phase 1, Phase 2
3 Phase II, Randomized, Placebo Controlled Trial of the Safety and Tolerability of Mycophenolate in Children With Juvenile Neuronal Ceroid Lipofuscinosis Completed NCT01399047 Phase 2 Mycophenolate mofetil;Liquid Placebo
4 Phase I/IIa Gene Transfer Clinical Trial for Juvenile Neuronal Ceroid Lipofuscinosis, Delivering the CLN3 Gene by Self-Complementary AAV9 Recruiting NCT03770572 Phase 1, Phase 2
5 Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9 Active, not recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
6 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
7 Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With LINCL With Uncommon Genotypes and/or Moderate to Severe Impairment Active, not recruiting NCT01414985 Phase 1, Phase 2
8 A Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Enrolling by invitation NCT02678689 Phase 2
9 A Phase I Study of the Safety and Preliminary Effectiveness of Human CNS Stem Cells (HuCNS-SC) in Patients With Neuronal Ceroid Lipofuscinosis Caused by Palmitoyl Protein Thioesterase 1 (PPT1) or Tripeptidyl Peptidase 1 (TPP-I) Deficiency Completed NCT00337636 Phase 1 Medication to suppress the immune system
10 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
11 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
12 Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
13 A Phase Ib Study of the Safety and Preliminary Efficacy of Allogeneic Intracerebral Human Central Nervous System Stem Cell Transplantation in Subjects With Non-Refractory Infantile and Late Infantile Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
14 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
15 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
16 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
17 A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease Recruiting NCT03822650
18 Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease Recruiting NCT03862274
19 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) Recruiting NCT03307304
20 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
21 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
22 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
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, Bone, Bone Marrow, Retina, Brain

Publications for Ceroid Storage Disease

Articles related to Ceroid Storage Disease:

(show all 15)
# Title Authors PMID Year
1
Lipofuscin (ceroid) storage disease of the brain neuropathological and neurochemical studies. 38 8
5507017 1970
2
Ceroid storage disease in childhood. 38 8
13657591 1959
3
Neuronal ceroid lipofuscinoses. 71
19084560 2009
4
Neuronal Ceroid-Lipofuscinoses 71
20301601 2001
5
Ceroid storage in a child with a Niemann-Pick type syndrome. 8
5922340 1966
6
Generalized lymphohistiocytic infiltration. A familial disease not previously described and different from Letterer-Siwe disease and Chediak-Higashi syndrome. 8
13728304 1961
7
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. 38
9182823 1997
8
[Albinism, thrombopathy, ceroid storage disease--Hermansky-Pudlak syndrome. Overview and description with immunodeficiency]. 38
8901188 1996
9
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. 38
8541858 1995
10
Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. 38
3120578 1987
11
A suspected lipofuscin storage disease of sheep associated with ingestion of the plant, Trachyandra divaricata (Jacq.) Kunth. 38
4047621 1985
12
Sea-blue histiocytes, lymphocytic cytosomes, movement disorder and 59Fe-uptake in basal ganglia: Hallervorden-Spatz disease or ceroid storage disease with abnormal isotope scan? 38
6681873 1983
13
[Panhypopituitarism with hepatic ceroid storage disease]. 38
4675591 1972
14
Ceroid storage disease, complicated by rupture of the spleen. 38
5775005 1969
15
LIVER CHANGES IN CEROID STORAGE DISEASE IN CHILDHOOD. A CORRELATED LIGHT AND ELECTRON MICROSCOPIC STUDY. 38
14154713 1964

Variations for Ceroid Storage Disease

ClinVar genetic disease variations for Ceroid Storage Disease:

6 (show top 50) (show all 580)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CLN8 NC_000008.10: g.(?_1719201)_(1728753_?)del deletion Pathogenic 8:1719201-1728753 8:1771035-1780587
2 CLN3 NC_000016.9: g.(?_28497648)_(28497991_?)del deletion Pathogenic
3 CLN3 NM_000086.2(CLN3): c.569dup (p.Ala191fs) duplication Pathogenic rs386833732 16:28497776-28497776 16:28486455-28486455
4 CLN5 NM_006493.4(CLN5): c.112_113insATCCGGGCTGG (p.Val38fs) insertion Pathogenic rs1555273604 13:77566345-77566346 13:76992210-76992211
5 CLN5 NM_006493.4(CLN5): c.187del (p.Arg63fs) deletion Pathogenic rs1555273881 13:77569211-77569211 13:76995076-76995076
6 CLN3 NC_000016.9: g.(?_28498757)_(28503100_?)del deletion Pathogenic 16:28498757-28503100 16:28487436-28491779
7 TPP1 NM_000391.4(TPP1): c.237C> G (p.Tyr79Ter) single nucleotide variant Pathogenic 11:6639000-6639000 11:6617769-6617769
8 CLN5 NM_006493.4(CLN5): c.1026_1027AT[1] (p.Thr342_Tyr343insTer) short repeat Pathogenic rs386833969 13:77575055-77575056 13:77000920-77000921
9 CLN5 NM_006493.4(CLN5): c.78G> A (p.Trp26Ter) single nucleotide variant Pathogenic rs104894385 13:77566311-77566311 13:76992176-76992176
10 TPP1 NM_000391.4(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 11:6638271-6638271 11:6617040-6617040
11 TPP1 NM_000391.4(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 11:6638385-6638385 11:6617154-6617154
12 TPP1 NM_000391.4(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 11:6637927-6637927 11:6616696-6616696
13 CLN8 NM_018941.3(CLN8): c.70C> G (p.Arg24Gly) single nucleotide variant Pathogenic rs104894064 8:1719290-1719290 8:1771124-1771124
14 CLN3 NM_000086.2(CLN3): c.883G> A (p.Glu295Lys) single nucleotide variant Pathogenic rs121434286 16:28493821-28493821 16:28482500-28482500
15 CLN6 NM_017882.3(CLN6): c.393_394CT[1] (p.Ser132fs) short repeat Pathogenic rs774543080 15:68504103-68504104 15:68211765-68211766
16 PPT1 NM_000310.3(PPT1): c.364A> T (p.Arg122Trp) single nucleotide variant Pathogenic rs137852695 1:40557070-40557070 1:40091398-40091398
17 DNAJC5 NM_025219.3(DNAJC5): c.343_345CTC[1] (p.Leu116del) short repeat Pathogenic rs587776892 20:62562228-62562230 20:63930875-63930877
18 CLN3 NM_000086.2(CLN3): c.214C> T (p.Gln72Ter) single nucleotide variant Pathogenic rs386833709 16:28500619-28500619 16:28489298-28489298
19 CLN3 NM_000086.2(CLN3): c.424del (p.Val142fs) deletion Pathogenic rs386833720 16:28498813-28498813 16:28487492-28487492
20 CLN3 NM_000086.2(CLN3): c.622dup (p.Ser208fs) duplication Pathogenic rs386833736 16:28497723-28497723 16:28486402-28486402
21 CLN3 NM_000086.2(CLN3): c.944dup (p.His315fs) duplication Pathogenic rs386833740 16:28493666-28493666 16:28482345-28482345
22 CLN5 NM_006493.4(CLN5): c.936del (p.Phe312fs) deletion Pathogenic rs386833966 13:77574963-77574963 13:77000828-77000828
23 CLN5 NM_006493.4(CLN5): c.956_959del (p.Lys319fs) deletion Pathogenic rs386833967 13:77574983-77574986 13:77000848-77000851
24 TPP1 NM_000391.4(TPP1): c.1166G> A (p.Gly389Glu) single nucleotide variant Pathogenic rs121908199 11:6636773-6636773 11:6615542-6615542
25 TPP1 NM_000391.4(TPP1): c.1266G> C (p.Gln422His) single nucleotide variant Pathogenic rs121908200 11:6636673-6636673 11:6615442-6615442
26 TPP1 NM_000391.4(TPP1): c.1397T> G (p.Val466Gly) single nucleotide variant Pathogenic rs398122959 11:6636430-6636430 11:6615199-6615199
27 TPP1 NM_000391.4(TPP1): c.827A> T (p.Asp276Val) single nucleotide variant Pathogenic rs763162812 11:6637951-6637951 11:6616720-6616720
28 TPP1 NM_000391.4(TPP1): c.509-1G> A single nucleotide variant Pathogenic rs56144125 11:6638385-6638385 11:6617154-6617154
29 TPP1 NM_000391.4(TPP1): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs756564767 11:6638858-6638858 11:6617627-6617627
30 TPP1 NM_000391.4(TPP1): c.311T> A (p.Leu104Ter) single nucleotide variant Pathogenic rs202189057 11:6638926-6638926 11:6617695-6617695
31 TPP1 NM_000391.4(TPP1): c.196C> T (p.Gln66Ter) single nucleotide variant Pathogenic rs759080581 11:6640040-6640040 11:6618809-6618809
32 CLN5 NM_006493.4(CLN5): c.566_*1548del (p.Gly189fs) deletion Pathogenic 13:77574593-77576652 13:77000458-77002517
33 CLN3 NC_000016.9: g.(?_28498777)_(28607251_?)del deletion Pathogenic 16:28498777-28607251 16:28487456-28595930
34 CLN3 NC_000016.9: g.(?_28497668)_(28497971_?)del deletion Pathogenic 16:28497668-28497971 16:28486347-28486650
35 CLN8 NC_000008.10: g.(?_1719211)_(1728743_?)del deletion Pathogenic 8:1719211-1728743 8:1771045-1780577
36 CLN5 NC_000013.10: g.(?_77566067)_(77575124_?)del deletion Pathogenic 13:77566067-77575124 13:76991932-77000989
37 CLN6 NC_000015.9: g.(?_68521820)_(68521942_?)del deletion Pathogenic 15:68521820-68521942 15:68229482-68229604
38 CLN6 NC_000015.9: g.(?_68521830)_(68521932_?)del deletion Pathogenic 15:68521830-68521932 15:68229492-68229594
39 TPP1 NM_000391.4(TPP1): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic 11:6638912-6638912 11:6617681-6617681
40 TPP1 NM_000391.4(TPP1): c.1676_1677CT[1] (p.Leu560fs) short repeat Pathogenic 11:6635790-6635791 11:6614559-6614560
41 CLN8 NM_018941.3(CLN8): c.295C> T (p.Gln99Ter) single nucleotide variant Pathogenic 8:1719515-1719515 8:1771349-1771349
42 CLN3 NC_000016.9: g.(?_28497286)_(28498251_?)del deletion Pathogenic 16:28497286-28498251 16:28485965-28486930
43 TPP1 NM_000391.4(TPP1): c.89+5G> C single nucleotide variant Pathogenic/Likely pathogenic rs746085696 11:6640422-6640422 11:6619191-6619191
44 TPP1 NM_000391.4(TPP1): c.1015C> T (p.Arg339Trp) single nucleotide variant Pathogenic/Likely pathogenic rs750428882 11:6637606-6637606 11:6616375-6616375
45 CLN5 NM_006493.4(CLN5): c.448C> T (p.Arg150Ter) single nucleotide variant Pathogenic/Likely pathogenic rs546989392 13:77570145-77570145 13:76996010-76996010
46 CLN8 NM_018941.3(CLN8): c.499G> T (p.Glu167Ter) single nucleotide variant Pathogenic/Likely pathogenic rs144495588 8:1719719-1719719 8:1771553-1771553
47 TPP1 NM_000391.4(TPP1): c.1424C> T (p.Ser475Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121908202 11:6636403-6636403 11:6615172-6615172
48 CLN6 NM_017882.3(CLN6): c.150C> G (p.Tyr50Ter) single nucleotide variant Pathogenic/Likely pathogenic rs154774640 15:68510922-68510922 15:68218584-68218584
49 TPP1 NM_000391.4(TPP1): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204753 11:6636448-6636448 11:6615217-6615217
50 CLN5 NM_006493.4(CLN5): c.775_776AT[1] (p.Phe260fs) short repeat Pathogenic/Likely pathogenic rs786204644 13:77574804-77574805 13:77000669-77000670

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 TPP1 PPT1 CLN5 CLN3

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 CLN8 CLN6 CLN5 CLN3
2 melanosome GO:0042470 9.37 TPP1 DNAJC5
3 lysosomal membrane GO:0005765 9.33 DNAJC5 CLN5 CLN3
4 lysosomal lumen GO:0043202 9.26 TPP1 PPT1
5 synaptic vesicle GO:0008021 9.13 PPT1 DNAJC5 CLN3
6 lysosome GO:0005764 8.92 TPP1 PPT1 CLN5 CLN3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.72 PPT1 CLN8 CLN3
2 nervous system development GO:0007399 9.71 TPP1 PPT1 CLN8
3 visual perception GO:0007601 9.65 PPT1 CLN8 CLN6
4 negative regulation of neuron apoptotic process GO:0043524 9.58 PPT1 DNAJC5 CLN3
5 neuromuscular process controlling balance GO:0050885 9.54 TPP1 CLN8 CLN3
6 cholesterol metabolic process GO:0008203 9.52 CLN8 CLN6
7 adult locomotory behavior GO:0008344 9.51 PPT1 CLN8
8 associative learning GO:0008306 9.5 PPT1 CLN8 CLN3
9 negative regulation of proteolysis GO:0045861 9.49 CLN8 CLN3
10 ceramide metabolic process GO:0006672 9.46 CLN8 CLN3
11 lysosomal lumen acidification GO:0007042 9.46 PPT1 CLN6 CLN5 CLN3
12 cellular protein catabolic process GO:0044257 9.43 PPT1 CLN8
13 cellular macromolecule catabolic process GO:0044265 9.43 PPT1 CLN8 CLN6
14 lysosome organization GO:0007040 9.35 TPP1 PPT1 CLN8 CLN6 CLN3
15 protein catabolic process GO:0030163 9.1 TPP1 PPT1 CLN8 CLN6 CLN5 CLN3

Sources for Ceroid Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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