ANCL
MCID: ADL066
MIFTS: 28

Adult Neuronal Ceroid Lipofuscinosis (ANCL) malady

Neuronal diseases category

Summaries for Adult Neuronal Ceroid Lipofuscinosis

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: Adult Neuronal Ceroid Lipofuscinosis, also known as kuf's disease, is related to 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. 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

About this section
Sources:
42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 60UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

adult neuronal ceroid lipofuscinosis 42 22 21 60
kuf's disease 42 21
kufs type neuronal ceroid lipofuscinosis 21
ceroid lipofuscinosis, neuronal 4 60
neuronal ceroid lipofuscinosis 4 42
kufs disease 21
adult ncl 42
cln4a 21
ancl 42


Related Diseases for Adult Neuronal Ceroid Lipofuscinosis

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Adult Neuronal Ceroid Lipofuscinosis:



Diseases related to adult neuronal ceroid lipofuscinosis

Clinical Features for Adult Neuronal Ceroid Lipofuscinosis

About this section

Drugs & Therapeutics for Adult Neuronal Ceroid Lipofuscinosis

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
22GTR
See all sources

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

About this section

Animal Models for Adult Neuronal Ceroid Lipofuscinosis or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Adult Neuronal Ceroid Lipofuscinosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.1TPP1, DNAJC5, PPT1, PSAP

Publications for Adult Neuronal Ceroid Lipofuscinosis

About this section

Genetic Variations for Adult Neuronal Ceroid Lipofuscinosis

About this section

Expression for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
29KEGG
See all sources

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

About this section
Sources:
44Novoseek, 24HMDB, 28IUPHAR
See all sources

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

idCompoundScoreTop Affiliating Genes
1palmitate449.1DNAJC5, PPT1
2cysteine448.9DNAJC5, PPT1, PSAP
3mannose 6-phosphate44 249.5TPP1, PPT1, PSAP
4atp44 288.9PSAP, PPT1, ATP5E, TPP1

GO Terms for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adult Neuronal Ceroid Lipofuscinosis

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet