ANCL
MCID: ADL066
MIFTS: 39

Adult Neuronal Ceroid Lipofuscinosis (ANCL) malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories
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Summaries for Adult Neuronal Ceroid Lipofuscinosis

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NIH Rare Diseases:42 Adult neuronal ceroid lipofuscinosis is a disorder of the nervous system. symptoms usually begin before age 40 and include movement disorders, seizures, dementia, and speech problems. unlike other forms of neuronal ceroid lipofuscinosis, the adult form does not cause blindness. there are two forms of adult neuronal ceroid lipofuscinosis. type a is caused by mutations in the cln6 gene and is inherited in an autosomal recessive pattern. type b can be caused by mutations in the dnajc5 gene and is inherited in an autosomal dominant pattern. treatment options for adult neuronal ceroid lipofuscinosis are limited to therapies that can help relieve some of the symptoms. last updated: 11/29/2012

MalaCards based summary: Adult Neuronal Ceroid Lipofuscinosis, also known as kufs type neuronal ceroid lipofuscinosis, is related to neuronal ceroid lipofuscinosis and neuronitis. An important gene associated with Adult Neuronal Ceroid Lipofuscinosis is ATP5E (ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit), and among its related pathways are Metabolism and Lysosome. The compounds serine and mannose 6-phosphate have been mentioned in the context of this disorder. Affiliated tissues include retina, and related mouse phenotype muscle.

Genetics Home Reference:21 Kufs 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 Kufs disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.

Aliases & Classifications for Adult Neuronal Ceroid Lipofuscinosis

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Adult Neuronal Ceroid Lipofuscinosis, Aliases & Descriptions:

Name: Adult Neuronal Ceroid Lipofuscinosis 42 22 21 62
Kufs Type Neuronal Ceroid Lipofuscinosis 21 62
Kuf's Disease 42 21
Ceroid Lipofuscinosis, Neuronal 4 62
Neuronal Ceroid Lipofuscinosis 4 42
 
Kufs Disease 21
Adult Ncl 42
Cln4a 21
Ancl 42


Classifications:



Related Diseases for Adult Neuronal Ceroid Lipofuscinosis

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Graphical network of diseases related to Adult Neuronal Ceroid Lipofuscinosis:



Diseases related to adult neuronal ceroid lipofuscinosis

Symptoms for Adult Neuronal Ceroid Lipofuscinosis

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Drugs & Therapeutics for Adult Neuronal Ceroid Lipofuscinosis

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Drug clinical trials:

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Search NIH Clinical Center for Adult Neuronal Ceroid Lipofuscinosis

Genetic Tests for Adult Neuronal Ceroid Lipofuscinosis

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Genetic tests related to Adult Neuronal Ceroid Lipofuscinosis:

id Genetic test Affiliating Genes
1 Adult Neuronal Ceroid Lipofuscinosis22

Anatomical Context for Adult Neuronal Ceroid Lipofuscinosis

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MalaCards organs/tissues related to Adult Neuronal Ceroid Lipofuscinosis:

32
Retina

Animal Models for Adult Neuronal Ceroid Lipofuscinosis or affiliated genes

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MGI Mouse Phenotypes related to Adult Neuronal Ceroid Lipofuscinosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5PSAP, TPP1, PPT1

Publications for Adult Neuronal Ceroid Lipofuscinosis

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Articles related to Adult Neuronal Ceroid Lipofuscinosis:

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

Variations for Adult Neuronal Ceroid Lipofuscinosis

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Expression for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

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Expression patterns in normal tissues for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

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Pathways for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

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Pathways related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.8PSAP, ATP5E, PPT1
28.5PSAP, TPP1, PPT1

Compounds for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

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Sources:
44Novoseek, 24HMDB, 28IUPHAR
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Compounds related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine448.5PSAP, TPP1, PPT1
2mannose 6-phosphate44 249.4PSAP, TPP1, PPT1
3atp44 288.7PPT1, ATP5E, TPP1, PSAP

GO Terms for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

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Cellular components related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.0TPP1, PPT1
2lysosomal lumenGO:0432028.8PSAP, TPP1

Biological processes related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nervous system developmentGO:0073999.0TPP1, PPT1
2protein catabolic processGO:0301638.7TPP1, PPT1

Products for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Adult Neuronal Ceroid Lipofuscinosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet