Aliases & Classifications for Cln4 Disease

MalaCards integrated aliases for Cln4 Disease:

Name: Cln4 Disease 25
Adult Neuronal Ceroid Lipofuscinosis 25 73
Ceroid Cipofuscinosis, Neuronal, 4b, Autosomal Dominant 25
Ceroid Lipofuscinosis, Neuronal, Parry Type 73
Cln4b 25

Classifications:



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Summaries for Cln4 Disease

Genetics Home Reference : 25 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. 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 12.0
2 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.9
3 adult neuronal ceroid lipofuscinosis 11.2
4 neuronal ceroid lipofuscinosis 10.9
5 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

Search Clinical Trials , NIH Clinical Center for Cln4 Disease

Genetic Tests for Cln4 Disease

Anatomical Context for Cln4 Disease

MalaCards organs/tissues related to Cln4 Disease:

41
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
Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis. ( 9831759 )
1998
14
Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma. Case report. ( 9452242 )
1998
15
Diagnostic (clinical and morphological) criteria for adult neuronal ceroid-lipofuscinosis (Kufs' disease), HA'pital de la SalpActriA"re '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
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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