Aliases & Classifications for Ceroid Storage Disease

MalaCards integrated aliases for Ceroid Storage Disease:

Name: Ceroid Storage Disease 56
Neuronal Ceroid-Lipofuscinoses 71
Lipofuscin Storage Disease 56

Characteristics:

OMIM:

56
Inheritance:
? autosomal recessive


HPO:

31
ceroid storage disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 214200
MedGen 41 C0027877
SNOMED-CT via HPO 68 258211005 59927004
UMLS 71 C0027877

Summaries for Ceroid Storage Disease

MalaCards based summary : Ceroid Storage Disease, also known as neuronal ceroid-lipofuscinoses, is related to neuronal ceroid-lipofuscinoses and immune deficiency disease. 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 Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and retina, and related phenotypes are hepatic failure and abnormality of the spleen

More information from OMIM: 214200

Related Diseases for Ceroid Storage Disease

Diseases related to Ceroid Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 neuronal ceroid-lipofuscinoses 30.3 PPT1 CLN8 CLN6 CLN5 CLN3
2 immune deficiency disease 10.0
3 pituitary hormone deficiency, combined, 2 10.0
4 oculocutaneous albinism 10.0
5 hermansky-pudlak syndrome 10.0
6 lung disease 10.0
7 albinism 10.0
8 cerebral atrophy 9.9 CLN6 CLN3
9 ceroid lipofuscinosis, neuronal, 6 9.8 CLN6 CLN5
10 gm1 gangliosidosis 9.6 CLN6 CLN3
11 unverricht-lundborg syndrome 9.6 CLN6 CLN5 CLN3
12 visual cortex disease 9.5 CLN8 CLN6 CLN5
13 visual pathway disease 9.5 CLN8 CLN6 CLN5
14 spinocerebellar ataxia, autosomal recessive 7 9.5 TPP1 CLN8 CLN6
15 epilepsy 9.4 CLN8 CLN6 CLN5 CLN3
16 progressive myoclonus epilepsy 9.3 TPP1 CLN6 CLN5 CLN3
17 ceroid lipofuscinosis, neuronal, 11 8.9 DNAJC5 CLN8 CLN6 CLN5 CLN3
18 adult neuronal ceroid lipofuscinosis 8.8 TPP1 PPT1 DNAJC5 CLN6
19 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 8.6 TPP1 PPT1 DNAJC5 CLN6 CLN3
20 ceroid lipofuscinosis, neuronal, 9 8.6 TPP1 DNAJC5 CLN8 CLN6 CLN5 CLN3
21 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 8.3 PPT1 DNAJC5 CLN8 CLN6 CLN5 CLN3
22 lipid storage disease 8.3 TPP1 PPT1 CLN8 CLN6 CLN5 CLN3
23 lysosomal storage disease 8.3 TPP1 PPT1 CLN8 CLN6 CLN5 CLN3
24 mucopolysaccharidosis iii 7.9 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
25 ceroid lipofuscinosis, neuronal, 1 7.9 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
26 ceroid lipofuscinosis, neuronal, 13 7.9 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
27 ceroid lipofuscinosis, neuronal, 7 7.9 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
28 ceroid lipofuscinosis, neuronal, 10 7.9 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
29 ceroid lipofuscinosis, neuronal, 2 7.9 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
30 ceroid lipofuscinosis, neuronal, 3 7.9 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
31 neuronal ceroid lipofuscinosis 7.9 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
32 visual epilepsy 7.9 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5

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:

31
# Description HPO Frequency HPO Source Accession
1 hepatic failure 31 HP:0001399
2 abnormality of the spleen 31 HP:0001743

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 CLN3 CLN6 CLN8 DNAJC5 PPT1 TPP1
2 nervous system MP:0003631 9.5 CLN3 CLN5 CLN6 CLN8 DNAJC5 PPT1
3 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 29)
# 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 N-monoacetylcystine Phase 4
4 Respiratory System Agents Phase 4
5 Anti-Infective Agents Phase 4
6 Free Radical Scavengers Phase 4
7 Antiviral Agents Phase 4
8 Antioxidants Phase 4
9 Protective Agents Phase 4
10 Expectorants Phase 4
11
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
13
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
14
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
15
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
16 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
17
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
18
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
19 Alkylating Agents Phase 2, Phase 3
20 Methylprednisolone Acetate Phase 2, Phase 3
21 Antilymphocyte Serum Phase 2, Phase 3
22 Immunosuppressive Agents Phase 2, Phase 3
23 Antirheumatic Agents Phase 2, Phase 3
24 Immunologic Factors Phase 2, Phase 3
25
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
26
Mycophenolic acid Approved Phase 2 24280-93-1 446541
27 Antitubercular Agents Phase 2
28 Antibiotics, Antitubercular Phase 2
29 Anti-Bacterial Agents Phase 2

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 A Combination Therapy With Cystagon and N-Acetylcysteine for INCL Patients Completed NCT00028262 Phase 4 Cystagon
2 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation 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 Type 2 (CLN2) Disease Completed NCT01907087 Phase 1, Phase 2
4 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
5 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
6 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 Active, not recruiting NCT02678689 Phase 2
7 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
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 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
10 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 Unknown status NCT01586455 Phase 1 Human Placental Derived Stem Cell
11 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
12 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
13 Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
14 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
15 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
16 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
17 Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151268
18 Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency (Neuronal Ceroid Lipofuscinosis Type 2) Patients Recruiting NCT04098211
19 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
20 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
21 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) Recruiting NCT03307304
22 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
23 Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease Recruiting NCT03862274
24 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
25 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
26 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
27 A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease Suspended NCT03822650
28 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:

40
Brain, Bone, Retina, Spleen, Liver, Bone Marrow, Testes

Publications for Ceroid Storage Disease

Articles related to Ceroid Storage Disease:

(show top 50) (show all 628)
# Title Authors PMID Year
1
Neuronal ceroid lipofuscinoses. 61 6
19084560 2009
2
Neuronal Ceroid-Lipofuscinoses 61 6
20301601 2001
3
Lipofuscin (ceroid) storage disease of the brain neuropathological and neurochemical studies. 61 56
5507017 1970
4
Ceroid storage disease in childhood. 61 56
13657591 1959
5
Ceroid storage in a child with a Niemann-Pick type syndrome. 56
5922340 1966
6
Generalized lymphohistiocytic infiltration. A familial disease not previously described and different from Letterer-Siwe disease and Chediak-Higashi syndrome. 56
13728304 1961
7
Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia. 61
31982899 2020
8
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing. 61
31919451 2020
9
Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease. 61
31807779 2019
10
Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity. 61
31863828 2019
11
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses. 61
31741823 2019
12
Positron Emission Tomography in Pediatric Neurodegenerative Disorders. 61
31416725 2019
13
Analysis of Brain and Cerebrospinal Fluid from Mouse Models of the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Changes in the Lysosomal Proteome. 61
31501224 2019
14
Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene. 61
31512412 2019
15
Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease. 61
31393621 2019
16
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. 61
31476531 2019
17
The neuronal ceroid lipofuscinosis protein Cln7 functions in the postsynaptic cell to regulate synapse development. 61
31666534 2019
18
Cellular models of Batten disease. 61
31655107 2019
19
A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism. 61
31663851 2019
20
The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis. 61
31132336 2019
21
Gene-Based Approaches to Inherited Neurometabolic Diseases. 61
31397176 2019
22
Pathomechanisms in the neuronal ceroid lipofuscinoses. 61
31678162 2019
23
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses. 61
31678159 2019
24
Perampanel attenuates myoclonus in a patient with neuronal ceroid lipofuscinoses type 2 disease. 61
31122803 2019
25
Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome. 61
31025705 2019
26
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. 61
31029456 2019
27
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis. 61
31489614 2019
28
Pharmacological approaches to tackle NCLs. 61
31521819 2019
29
CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease). 61
31289301 2019
30
[Genetic study of a family of neuronal ceroid lipofuscinosis caused by a heterozygous mutation of CLN6 gene]. 61
31901039 2019
31
TPP1 Delivery to Lysosomes with Extracellular Vesicles and their Enhanced Brain Distribution in the Animal Model of Batten Disease. 61
30997751 2019
32
[Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy]. 61
31216804 2019
33
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. 61
30919163 2019
34
Applying modern Omic technologies to the Neuronal Ceroid Lipofuscinoses. 61
31207290 2019
35
Modelling of Neuronal Ceroid Lipofuscinosis Type 2 in Dictyostelium discoideum Suggests That Cytopathological Outcomes Result from Altered TOR Signalling. 61
31100984 2019
36
Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease. 61
30771299 2019
37
ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. 61
30956123 2019
38
A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs. 61
31101435 2019
39
Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses. 61
30877620 2019
40
MFSD8 gene mutations; evidence for phenotypic heterogeneity. 61
31006324 2019
41
Therapeutic landscape for Batten disease: current treatments and future prospects. 61
30783219 2019
42
Recent Insights into NCL Protein Function Using the Model Organism Dictyostelium discoideum. 61
30717401 2019
43
Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels. 61
30453012 2019
44
Neuronal ceroid lipofuscinosis with cardiac involvement. 61
31726844 2019
45
Autophagy-lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease. 61
30655561 2019
46
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis. 61
31105743 2019
47
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. 61
30470609 2019
48
Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses. 61
30651094 2019
49
Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model. 61
31003587 2019
50
Lysosomal storage disease overview. 61
30740407 2018

Variations for Ceroid Storage Disease

ClinVar genetic disease variations for Ceroid Storage Disease:

6 (show top 50) (show all 457) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLN8 NM_018941.3(CLN8):c.499G>T (p.Glu167Ter)SNV Pathogenic 205194 rs144495588 8:1719719-1719719 8:1771553-1771553
2 TPP1 NM_000391.4(TPP1):c.827A>T (p.Asp276Val)SNV Pathogenic 207581 rs763162812 11:6637951-6637951 11:6616720-6616720
3 TPP1 NM_000391.4(TPP1):c.509-1G>ASNV Pathogenic 207574 rs56144125 11:6638385-6638385 11:6617154-6617154
4 TPP1 NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)SNV Pathogenic 207569 rs756564767 11:6638858-6638858 11:6617627-6617627
5 TPP1 NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)SNV Pathogenic 207561 rs202189057 11:6638926-6638926 11:6617695-6617695
6 TPP1 NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)SNV Pathogenic 207564 rs759080581 11:6640040-6640040 11:6618809-6618809
7 CLN5 NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)SNV Pathogenic 205144 rs546989392 13:77570145-77570145 13:76996010-76996010
8 CLN5 NM_006493.4(CLN5):c.1026_1027AT[1] (p.Thr342_Tyr343insTer)short repeat Pathogenic 2564 rs386833969 13:77575053-77575054 13:77000918-77000919
9 CLN5 NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)SNV Pathogenic 2565 rs104894385 13:77566311-77566311 13:76992176-76992176
10 CLN5 NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)SNV Pathogenic 2566 rs28940280 13:77574715-77574715 13:77000580-77000580
11 TPP1 NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)SNV Pathogenic 2643 rs119455955 11:6638271-6638271 11:6617040-6617040
12 TPP1 NM_000391.4(TPP1):c.509-1G>CSNV Pathogenic 2644 rs56144125 11:6638385-6638385 11:6617154-6617154
13 TPP1 NM_000391.4(TPP1):c.851G>T (p.Gly284Val)SNV Pathogenic 2647 rs119455957 11:6637927-6637927 11:6616696-6616696
14 CLN8 NM_018941.3(CLN8):c.70C>G (p.Arg24Gly)SNV Pathogenic 2802 rs104894064 8:1719290-1719290 8:1771124-1771124
15 CLN3 NM_000086.2(CLN3):c.883G>A (p.Glu295Lys)SNV Pathogenic 3556 rs121434286 16:28493821-28493821 16:28482500-28482500
16 CLN6 NM_017882.3(CLN6):c.393_394CT[1] (p.Ser132fs)short repeat Pathogenic 4082 rs774543080 15:68504103-68504104 15:68211765-68211766
17 PPT1 NM_000310.3(PPT1):c.364A>T (p.Arg122Trp)SNV Pathogenic 8899 rs137852695 1:40557070-40557070 1:40091398-40091398
18 DNAJC5 NM_025219.3(DNAJC5):c.343_345CTC[1] (p.Leu116del)short repeat Pathogenic 30893 rs587776892 20:62562224-62562226 20:63930871-63930873
19 CLN3 NM_000086.2(CLN3):c.214C>T (p.Gln72Ter)SNV Pathogenic 56258 rs386833709 16:28500619-28500619 16:28489298-28489298
20 CLN3 NM_000086.2(CLN3):c.424del (p.Val142fs)deletion Pathogenic 56269 rs386833720 16:28498813-28498813 16:28487492-28487492
21 CLN3 NM_000086.2(CLN3):c.622dup (p.Ser208fs)duplication Pathogenic 56287 rs386833736 16:28497722-28497723 16:28486401-28486402
22 CLN3 NM_000086.2(CLN3):c.944dup (p.His315fs)duplication Pathogenic 56292 rs386833740 16:28493665-28493666 16:28482344-28482345
23 CLN5 NM_006493.4(CLN5):c.936del (p.Phe312fs)deletion Pathogenic 56528 rs386833966 13:77574959-77574959 13:77000824-77000824
24 CLN5 NM_006493.4(CLN5):c.956_959del (p.Lys319fs)deletion Pathogenic 56529 rs386833967 13:77574980-77574983 13:77000845-77000848
25 CLN5 NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)SNV Pathogenic 56533 rs104894386 13:77569212-77569212 13:76995077-76995077
26 TPP1 NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)SNV Pathogenic 68737 rs121908199 11:6636773-6636773 11:6615542-6615542
27 TPP1 NM_000391.4(TPP1):c.1266G>C (p.Gln422His)SNV Pathogenic 68738 rs121908200 11:6636673-6636673 11:6615442-6615442
28 TPP1 NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)SNV Pathogenic 89086 rs398122959 11:6636430-6636430 11:6615199-6615199
29 CLN8 NC_000008.10:g.(?_1719201)_(1728753_?)deldeletion Pathogenic 457933 8:1719201-1728753 8:1771035-1780587
30 CLN3 NC_000016.9:g.(?_28497648)_(28497991_?)deldeletion Pathogenic 457935 16:28486327-28486670
31 CLN3 NM_000086.2(CLN3):c.569dup (p.Ala191fs)duplication Pathogenic 457954 rs386833732 16:28497775-28497776 16:28486454-28486455
32 CLN5 NM_006493.4(CLN5):c.112_113insATCCGGGCTGG (p.Val38fs)insertion Pathogenic 527726 rs1555273604 13:77566342-77566343 13:76992207-76992208
33 CLN5 NM_006493.4(CLN5):c.187del (p.Arg63fs)deletion Pathogenic 527740 rs1555273881 13:77569210-77569210 13:76995075-76995075
34 TPP1 NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter)SNV Pathogenic 560628 rs1564855860 11:6639000-6639000 11:6617769-6617769
35 CLN5 NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs)deletion Pathogenic 577654 13:77574593-77576652 13:77000458-77002517
36 CLN3 NC_000016.9:g.(?_28498757)_(28503100_?)deldeletion Pathogenic 527787 16:28498757-28503100 16:28487436-28491779
37 CLN3 NC_000016.9:g.(?_28498777)_(28607251_?)deldeletion Pathogenic 584086 16:28498777-28607251 16:28487456-28595930
38 CLN3 NC_000016.9:g.(?_28497668)_(28497971_?)deldeletion Pathogenic 584138 16:28497668-28497971 16:28486347-28486650
39 CLN8 NM_018941.3(CLN8):c.295C>T (p.Gln99Ter)SNV Pathogenic 654163 8:1719515-1719515 8:1771349-1771349
40 TPP1 NM_000391.4(TPP1):c.325C>T (p.Gln109Ter)SNV Pathogenic 645209 11:6638912-6638912 11:6617681-6617681
41 TPP1 NM_000391.4(TPP1):c.1676_1677CT[1] (p.Leu560fs)short repeat Pathogenic 661918 11:6635790-6635791 11:6614559-6614560
42 CLN5 NC_000013.10:g.(?_77566067)_(77575124_?)deldeletion Pathogenic 649631 13:77566067-77575124 13:76991932-77000989
43 CLN6 NC_000015.9:g.(?_68521820)_(68521942_?)deldeletion Pathogenic 651807 15:68521820-68521942 15:68229482-68229604
44 CLN6 NC_000015.9:g.(?_68521830)_(68521932_?)deldeletion Pathogenic 665626 15:68521830-68521932 15:68229492-68229594
45 CLN8 NC_000008.10:g.(?_1719211)_(1728743_?)deldeletion Pathogenic 647473 8:1719211-1728743 8:1771045-1780577
46 CLN3 NC_000016.9:g.(?_28497286)_(28498251_?)deldeletion Pathogenic 657904 16:28497286-28498251 16:28485965-28486930
47 TPP1 NM_000391.4(TPP1):c.687+1G>CSNV Pathogenic 802655 11:6638205-6638205 11:6616974-6616974
48 CLN6 NM_017882.3(CLN6):c.837del (p.Trp279fs)deletion Pathogenic 803104 15:68500577-68500577 15:68208239-68208239
49 TPP1 NM_000391.4(TPP1):c.380+5G>ASNV Pathogenic/Likely pathogenic 599035 rs1564855725 11:6638852-6638852 11:6617621-6617621
50 TPP1 NM_000391.4(TPP1):c.182_183TC[1] (p.Ser62fs)short repeat Pathogenic/Likely pathogenic 552025 rs1554902216 11:6640050-6640052 11:6618820-6618821

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 9.71 CLN8 CLN6 CLN5 CLN3
2 cell GO:0005623 9.56 PPT1 CLN6 CLN5 CLN3
3 melanosome GO:0042470 9.37 TPP1 DNAJC5
4 lysosomal membrane GO:0005765 9.33 DNAJC5 CLN5 CLN3
5 lysosomal lumen GO:0043202 9.32 TPP1 PPT1
6 synaptic vesicle GO:0008021 9.13 PPT1 DNAJC5 CLN3
7 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 9.63 PPT1 CLN8 CLN6
4 negative regulation of neuron apoptotic process GO:0043524 9.58 PPT1 DNAJC5 CLN3
5 protein catabolic process GO:0030163 9.55 TPP1 PPT1 CLN8 CLN6 CLN5
6 neuromuscular process controlling balance GO:0050885 9.54 TPP1 CLN8 CLN3
7 cholesterol metabolic process GO:0008203 9.52 CLN8 CLN6
8 adult locomotory behavior GO:0008344 9.51 PPT1 CLN8
9 associative learning GO:0008306 9.5 PPT1 CLN8 CLN3
10 neurotransmitter secretion GO:0007269 9.49 PPT1 DNAJC5
11 negative regulation of proteolysis GO:0045861 9.48 CLN8 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 lysosomal lumen acidification GO:0007042 9.26 PPT1 CLN6 CLN5 CLN3
15 lysosome organization GO:0007040 9.02 TPP1 PPT1 CLN8 CLN6 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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