ANCL
MCID: ADL066
MIFTS: 34

Adult Neuronal Ceroid Lipofuscinosis (ANCL) malady

Neuronal category

Summaries for Adult Neuronal Ceroid Lipofuscinosis

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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: Adult Neuronal Ceroid Lipofuscinosis, also known as kuf's disease, is related to late-infantile neuronal ceroid lipofuscinosis and batten disease. An important gene associated with Adult Neuronal Ceroid Lipofuscinosis is DNAJC5 (DnaJ (Hsp40) homolog, subfamily C, member 5), and among its related pathways is Lysosome. The compounds palmitate and cysteine have been mentioned in the context of this disorder. Affiliated tissues include retina, and related mouse phenotype behavior/neurological.

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

Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

adult neuronal ceroid lipofuscinosis 43 22 21 61
kuf's disease 43 21
kufs type neuronal ceroid lipofuscinosis 21
ceroid lipofuscinosis, neuronal 4 61
neuronal ceroid lipofuscinosis 4 43
kufs disease 21
adult ncl 43
cln4a 21
ancl 43


Related Diseases for Adult Neuronal Ceroid Lipofuscinosis

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Adult Neuronal Ceroid Lipofuscinosis:



Diseases related to adult neuronal ceroid lipofuscinosis

Clinical Features for Adult Neuronal Ceroid Lipofuscinosis

Drugs & Therapeutics for Adult Neuronal Ceroid Lipofuscinosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Adult Neuronal Ceroid Lipofuscinosis

Drug clinical trials:

Search ClinicalTrials for Adult Neuronal Ceroid Lipofuscinosis

Search NIH Clinical Center for Adult Neuronal Ceroid Lipofuscinosis

Search CenterWatch for Adult Neuronal Ceroid Lipofuscinosis

Genetic Tests for Adult Neuronal Ceroid Lipofuscinosis

Sources:
22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Adult Neuronal Ceroid Lipofuscinosis:

33
Retina

Animal Models for Adult Neuronal Ceroid Lipofuscinosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Adult Neuronal Ceroid Lipofuscinosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.1TPP1, DNAJC5, PPT1, PSAP

Publications for Adult Neuronal Ceroid Lipofuscinosis

Sources:
51PubMed
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Articles related to Adult Neuronal Ceroid Lipofuscinosis:

(show all 26)
idTitleAuthorsYear
1
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. (23297359)
2013
2
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. (21549341)
2011
3
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. (21362476)
2011
4
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. (21820099)
2011
5
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. (22073189)
2011
6
Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form. (21819394)
2011
7
Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis. (19699676)
2009
8
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. (17261688)
2007
9
Adult-onset neuronal ceroid lipofuscinosis type B in an African-American. (15726574)
2005
10
Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama. (12790899)
2003
11
Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. (14655761)
2003
12
Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. (12112194)
2002
13
Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). (11588995)
2001
14
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. (11506414)
2001
15
Adult neuronal ceroid lipofuscinosis (Kufs' disease) in two siblings of an Irish family. (14606583)
2000
16
Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis. (9831759)
1998
17
Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma. Case report. (9452242)
1998
18
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
19
Adult neuronal ceroid-lipofuscinosis--personal observations. (9246375)
1997
20
Adult neuronal ceroid lipofuscinosis presenting with psychiatric symptoms: a case report. (8175244)
1993
21
Pathoarchitectonic pattern of iso- and allocortical lesions in juvenile and adult neuronal ceroid-lipofuscinosis. (8411975)
1993
22
Adult neuronal ceroid-lipofuscinosis. (2663281)
1989
23
A case of adult neuronal ceroid-lipofuscinosis with the appearance of membranous cytoplasmic bodies localized in the spinal anterior horn. (3033977)
1987
24
An autopsy case of adult neuronal ceroid lipofuscinosis. (3599568)
1986
25
Morphologic studies on adult neuronal-ceroid lipofuscinosis (NCL). (7168921)
1982
26
Adult neuronal ceroid lipofuscinosis (Kufs' disease). A sporadic case. (7302734)
1981

Genetic Variations for Adult Neuronal Ceroid Lipofuscinosis

Expression for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

Search GEO for disease gene expression data for Adult Neuronal Ceroid Lipofuscinosis.

Pathways for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

Sources:
30KEGG
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Pathways related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.5TPP1, PPT1, PSAP

Compounds for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

Sources:
45Novoseek, 24HMDB, 29IUPHAR
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Compounds related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1palmitate459.1DNAJC5, PPT1
2cysteine458.9DNAJC5, PPT1, PSAP
3mannose 6-phosphate45 249.5PSAP, PPT1, TPP1
4atp45 298.9TPP1, PSAP, PPT1, ATP5E

GO Terms for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

Sources:
16Gene Ontology
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Cellular components related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic vesicleGO:0080219.4DNAJC5, PPT1
2lysosomeGO:0057649.0TPP1, PPT1
3lysosomal lumenGO:0432029.0TPP1, PSAP
4melanosomeGO:0424708.9TPP1, DNAJC5

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

idNameGO IDScoreTop Affiliating Genes
1neurotransmitter secretionGO:0072699.3DNAJC5, PPT1
2cell deathGO:0082199.2TPP1, DNAJC5
3negative regulation of neuron apoptotic processGO:0435249.1DNAJC5, PPT1
4protein catabolic processGO:0301639.0TPP1, PPT1

Products for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adult Neuronal Ceroid Lipofuscinosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet