MCID: ADL066
MIFTS: 46

Adult Neuronal Ceroid Lipofuscinosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Summaries for Adult Neuronal Ceroid Lipofuscinosis

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NIH Rare Diseases:41 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 kuf's disease, is related to neuronal ceroid lipofuscinosis and ceroid lipofuscinosis, neuronal, 1, and has symptoms including behavioral abnormality, seizures and abnormality of extrapyramidal motor function. An important gene associated with Adult Neuronal Ceroid Lipofuscinosis is CTSF (cathepsin F), and among its related pathways is Lysosome. The compounds palmitate and mannose 6-phosphate have been mentioned in the context of this disorder. Affiliated tissues include retina, and related mouse phenotypes are vision/eye and 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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Sources:
41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 34MESH via Orphanet, 61UMLS via Orphanet
See all sources

Adult Neuronal Ceroid Lipofuscinosis, Aliases & Descriptions:

Name: Adult Neuronal Ceroid Lipofuscinosis 41 21 47 22 60
Kuf's Disease 41 21
Kufs Disease 21 47
Adult Ncl 41 47
Ancl 41 47
 
Kufs Type Neuronal Ceroid Lipofuscinosis 21
Neuronal Ceroid Lipofuscinosis 4 41
Cln4a Disease 47
Cln4a 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
cln4a disease:
Inheritance: Autosomal recessive; Age of onset: Adult
adult neuronal ceroid lipofuscinosis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult; Age of death: adult


External Ids:

Orphanet47 228340, 79262
ICD10 via Orphanet26 E75.4
MESH via Orphanet34 C537950
UMLS via Orphanet61 C0022797, C2931675

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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Symptoms:

 47 (show all 11)
  • motor deficit/trouble
  • ataxia/incoordination/trouble of the equilibrium
  • myoclonus/fasciculations
  • extrapyramidal syndrome
  • pyramidal syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • autosomal recessive inheritance
  • retinopathy
  • visual loss/blindness/amblyopia

HPO human phenotypes related to Adult Neuronal Ceroid Lipofuscinosis:

(show all 9)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 seizures hallmark (90%) HP:0001250
3 abnormality of extrapyramidal motor function hallmark (90%) HP:0002071
4 incoordination hallmark (90%) HP:0002311
5 developmental regression hallmark (90%) HP:0002376
6 involuntary movements hallmark (90%) HP:0004305
7 abnormality of pyramidal motor function hallmark (90%) HP:0007256
8 retinopathy occasional (7.5%) HP:0000488
9 visual impairment occasional (7.5%) HP:0000505

Drugs & Therapeutics for Adult Neuronal Ceroid Lipofuscinosis

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Drug clinical trials:

Search ClinicalTrials for Adult Neuronal Ceroid Lipofuscinosis

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:

31
Retina

Animal Models for Adult Neuronal Ceroid Lipofuscinosis or affiliated genes

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MGI Mouse Phenotypes related to Adult Neuronal Ceroid Lipofuscinosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.4DNAJC5, PSAP, CLN6, PPT1
2MP:00053697.8PPT1, TPP1, PSAP, DNAJC5
3MP:00053767.7GRN, DNAJC5, PSAP, TPP1, PPT1
4MP:00053867.0CTSF, PPT1, TPP1, CLN6, PSAP, DNAJC5
5MP:00036317.0PPT1, TPP1, CLN6, PSAP, DNAJC5, GRN
6MP:00107686.9PPT1, TPP1, CLN6, PSAP, DNAJC5, GRN

Publications for Adult Neuronal Ceroid Lipofuscinosis

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Articles related to Adult Neuronal Ceroid Lipofuscinosis:

(show all 20)
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: parkinsonism due to both striatal and nigral dysfunction. (12112194)
2002
7
Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). (11588995)
2001
8
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. (11506414)
2001
9
Adult neuronal ceroid lipofuscinosis (Kufs' disease) in two siblings of an Irish family. (14606583)
2000
10
Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis. (9831759)
1998
11
Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma. Case report. (9452242)
1998
12
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
13
Adult neuronal ceroid-lipofuscinosis--personal observations. (9246375)
1997
14
Adult neuronal ceroid lipofuscinosis presenting with psychiatric symptoms: a case report. (8175244)
1993
15
Pathoarchitectonic pattern of iso- and allocortical lesions in juvenile and adult neuronal ceroid-lipofuscinosis. (8411975)
1993
16
Adult neuronal ceroid-lipofuscinosis. (2663281)
1989
17
A case of adult neuronal ceroid-lipofuscinosis with the appearance of membranous cytoplasmic bodies localized in the spinal anterior horn. (3033977)
1987
18
An autopsy case of adult neuronal ceroid lipofuscinosis. (3599568)
1986
19
Morphologic studies on adult neuronal-ceroid lipofuscinosis (NCL). (7168921)
1982
20
Adult neuronal ceroid lipofuscinosis (Kufs' disease). A sporadic case. (7302734)
1981

Variations for Adult Neuronal Ceroid Lipofuscinosis

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Clinvar genetic disease variations for Adult Neuronal Ceroid Lipofuscinosis:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1GRNNM_002087.2(GRN): c.813_816delCACT (p.Thr272Serfs)deletionPathogenicrs63749877GRCh37Chr 17, 42428509: 42428512
2CLN6NM_017882.2(CLN6): c.200T> C (p.Leu67Pro)single nucleotide variantPathogenicrs154774633GRCh37Chr 15, 68506725: 68506725
3CLN6NM_017882.2(CLN6): c.308G> A (p.Arg103Gln)single nucleotide variantPathogenicrs154774634GRCh37Chr 15, 68504191: 68504191
4CLN6NM_017882.2(CLN6): c.139C> T (p.Leu47Phe)single nucleotide variantPathogenicrs154774635GRCh37Chr 15, 68510933: 68510933
5CLN6NM_017882.2(CLN6): c.17G> C (p.Arg6Thr)single nucleotide variantPathogenicrs154774636GRCh37Chr 15, 68521906: 68521906
6DNAJC5NM_025219.2(DNAJC5): c.346_348delCTC (p.Leu116del)deletionPathogenicGRCh37Chr 20, 62562228: 62562230
7DNAJC5NM_025219.2(DNAJC5): c.344T> G (p.Leu115Arg)single nucleotide variantPathogenicrs387907043GRCh37Chr 20, 62562226: 62562226
8CTSFNM_003793.3(CTSF): c.962A> G (p.Gln321Arg)single nucleotide variantPathogenicrs397514731GRCh37Chr 11, 66333304: 66333304
9CTSFNM_003793.3(CTSF): c.1373G> C (p.Gly458Ala)single nucleotide variantPathogenicrs397514732GRCh37Chr 11, 66331566: 66331566
10CTSFNM_003793.3(CTSF): c.1439C> T (p.Ser480Leu)single nucleotide variantPathogenicrs397514733GRCh37Chr 11, 66331420: 66331420
11CTSFNM_003793.3(CTSF): c.692A> G (p.Tyr231Cys)single nucleotide variantPathogenicrs143889283GRCh37Chr 11, 66333791: 66333791

Expression for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

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

Pathways for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

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Pathways related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.2CTSF, PSAP, TPP1, PPT1

Compounds for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

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Sources:
43Novoseek, 24HMDB, 28IUPHAR
See all sources

Compounds related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1palmitate439.4DNAJC5, PPT1
2mannose 6-phosphate43 249.4PPT1, TPP1, PSAP
3cysteine438.2CTSF, GRN, DNAJC5, PSAP, PPT1
4atp43 288.7PSAP, TPP1, ATP5E, PPT1

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1melanosomeGO:00424709.2DNAJC5, TPP1
2synaptic vesicleGO:00080219.1DNAJC5, PPT1
3lysosomal lumenGO:00432028.9CTSF, PSAP, TPP1
4lysosomeGO:00057648.7CTSF, TPP1, PPT1
5mitochondrionGO:00057398.2TPP1, PSAP, DNAJC5, GRN

Biological processes related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of neuron apoptotic processGO:00435249.4DNAJC5, PPT1
2lysosomal lumen acidificationGO:00070429.3CLN6, PPT1
3neurotransmitter secretionGO:00072699.1DNAJC5, PPT1
4protein catabolic processGO:00301638.6PPT1, TPP1, CLN6
5cell deathGO:00082198.1CTSF, GRN, DNAJC5, CLN6, TPP1

Products for genes affiliated with Adult Neuronal Ceroid Lipofuscinosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Adult Neuronal Ceroid Lipofuscinosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet