Aliases & Classifications for Cln4 Disease

MalaCards integrated aliases for Cln4 Disease:

Name: Cln4 Disease 26
Adult Neuronal Ceroid Lipofuscinosis 26 74
Ceroid Cipofuscinosis, Neuronal, 4b, Autosomal Dominant 26
Ceroid Lipofuscinosis, Neuronal, Parry Type 74
Cln4b 26

Classifications:



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Summaries for Cln4 Disease

Genetics Home Reference : 26 CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.

MalaCards based summary : Cln4 Disease, also known as adult neuronal ceroid lipofuscinosis, is related to ceroid lipofuscinosis, neuronal, 4a, autosomal recessive and ceroid lipofuscinosis, neuronal, 4b, autosomal dominant, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include retina.

Related Diseases for Cln4 Disease

Diseases related to Cln4 Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 12.1
2 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 12.0
3 adult neuronal ceroid lipofuscinosis 11.2
4 neuronal ceroid lipofuscinosis 10.9
5 ceroid lipofuscinosis, neuronal, 1 10.4
6 ceroid lipofuscinosis, neuronal, 6 10.2
7 glioma 10.2

Graphical network of the top 20 diseases related to Cln4 Disease:



Diseases related to Cln4 Disease

Symptoms & Phenotypes for Cln4 Disease

UMLS symptoms related to Cln4 Disease:


seizures, myoclonus, abnormality of extrapyramidal motor function, cerebellar ataxia, cerebellar signs

Drugs & Therapeutics for Cln4 Disease

Drugs for Cln4 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 Expectorants Phase 4
4 Free Radical Scavengers Phase 4
5 Antidotes Phase 4
6 Protective Agents Phase 4
7 Anti-Infective Agents Phase 4,Phase 2
8 Respiratory System Agents Phase 4
9 Antioxidants Phase 4
10 N-monoacetylcystine Phase 4
11 Antiviral Agents Phase 4
12
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
13
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
14
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
15
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
16
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
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 Prednisolone acetate Phase 2, Phase 3
20 Antineoplastic Agents, Alkylating Phase 2, Phase 3
21 Methylprednisolone Acetate Phase 2, Phase 3
22 Alkylating Agents Phase 2, Phase 3
23 Immunologic Factors Phase 2, Phase 3
24 Immunosuppressive Agents Phase 2, Phase 3
25 Antilymphocyte Serum Phase 2, Phase 3
26 Antirheumatic Agents 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 Antibiotics, Antitubercular Phase 2
30 Antitubercular Agents Phase 2
31 Anti-Bacterial 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 Cln4 Disease

Genetic Tests for Cln4 Disease

Anatomical Context for Cln4 Disease

MalaCards organs/tissues related to Cln4 Disease:

42
Retina

Publications for Cln4 Disease

Articles related to Cln4 Disease:

(show all 23)
# Title Authors Year
1
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). ( 27412140 )
2016
2
Expression profile of a Caenorhabditis elegans model of adult neuronal ceroid lipofuscinosis reveals down regulation of ubiquitin E3 ligase components. ( 26395859 )
2015
3
Oligomerization of Cysteine String Protein alpha mutants causing adult neuronal ceroid lipofuscinosis. ( 25064588 )
2014
4
Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form. ( 21819394 )
2011
5
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. ( 22073189 )
2011
6
Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis. ( 19699676 )
2009
7
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. ( 17261688 )
2007
8
Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. ( 14655761 )
2003
9
Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. ( 12112194 )
2002
10
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. ( 11506414 )
2001
11
Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). ( 11588995 )
2001
12
Adult neuronal ceroid lipofuscinosis (Kufs' disease) in two siblings of an Irish family. ( 14606583 )
2000
13
Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma. Case report. ( 9452242 )
1998
14
Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis. ( 9831759 )
1998
15
Diagnostic (clinical and morphological) criteria for adult neuronal ceroid-lipofuscinosis (Kufs' disease), Hôpital de la Salpétrière 'AFM Institut de Myologie', Paris, France, 5 December 1996. ( 9223136 )
1997
16
Adult neuronal ceroid-lipofuscinosis--personal observations. ( 9246375 )
1997
17
Adult neuronal ceroid lipofuscinosis presenting with psychiatric symptoms: a case report. ( 8175244 )
1993
18
Pathoarchitectonic pattern of iso- and allocortical lesions in juvenile and adult neuronal ceroid-lipofuscinosis. ( 8411975 )
1993
19
Adult neuronal ceroid-lipofuscinosis. ( 2663281 )
1989
20
A case of adult neuronal ceroid-lipofuscinosis with the appearance of membranous cytoplasmic bodies localized in the spinal anterior horn. ( 3033977 )
1987
21
An autopsy case of adult neuronal ceroid lipofuscinosis. ( 3599568 )
1986
22
Morphologic studies on adult neuronal-ceroid lipofuscinosis (NCL). ( 7168921 )
1982
23
Adult neuronal ceroid lipofuscinosis (Kufs' disease). A sporadic case. ( 7302734 )
1981

Variations for Cln4 Disease

Expression for Cln4 Disease

Search GEO for disease gene expression data for Cln4 Disease.

Pathways for Cln4 Disease

GO Terms for Cln4 Disease

Sources for Cln4 Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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50 NCI
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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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