CLN4B
MCID: CRD225
MIFTS: 30

Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant (CLN4B)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant:

Name: Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 58 54
Ceroid Lipofuscinosis, Neuronal, Parry Type 58 54 74
Neuronal Ceroid Lipofuscinosis 4b 12 54 15
Cln4b Disease 12 54 60
Cln4b 58 54 76
Autosomal Dominant Neuronal Ceroid Lipofuscinosis 4b 12 54
Ceroid Lipofuscinosis Neuronal 4b Autosomal Dominant 30 6
Ceroid Lipofuscinosis, Neuronal, 4, Parry Type 58 13
Lipofuscinosis, Ceroid, Neuronal, Type 4, Parry Type 41
Neuronal Ceroid Lipofuscinosis 4 Parry Type 12
Neuronal Ceroid Lipofuscinosis Parry Type 76
Adult Neuronal Ceroid Lipofuscinosis 4b 54
Ceroid Lipofuscinosis, Neuronal, 4b 76
Kuf's Disease, Autosomal Dominant 54
Kufs Disease, Autosomal Dominant 58
Kufs Disease Autosomal Dominant 76
Kuf's Disease Type B 54

Characteristics:

Orphanet epidemiological data:

60
cln4b disease
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
rapidly progressive
onset in adulthood (third to fourth decade)
for similar autosomal recessive form, see cln4


HPO:

33
ceroid lipofuscinosis, neuronal, 4b, autosomal dominant:
Onset and clinical course adult onset rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

OMIM : 58 Neuronal ceroid lipofuscinosis-4B is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, 204200). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (162350)

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant, also known as ceroid lipofuscinosis, neuronal, parry type, is related to neuronal ceroid lipofuscinosis and cln4 disease, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant is DNAJC5 (DnaJ Heat Shock Protein Family (Hsp40) Member C5). Affiliated tissues include brain, eye and cerebellum, and related phenotypes are depressivity and seizures

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has material basis in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13.

NIH Rare Diseases : 54 Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and involuntary movements such as tremors or tics. It can be caused by changes (mutations) in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options are limited to therapies that can help relieve some of the symptoms.

UniProtKB/Swiss-Prot : 76 Ceroid lipofuscinosis, neuronal, 4B: An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 depressivity 33 HP:0000716
2 seizures 33 HP:0001250
3 ataxia 33 HP:0001251
4 myoclonus 33 HP:0001336
5 dementia 33 HP:0000726
6 visual hallucinations 33 HP:0002367
7 parkinsonism 33 HP:0001300
8 auditory hallucinations 33 HP:0008765
9 granular osmiophilic deposits (grod) in cells 33 HP:0003657
10 abnormal cerebellum morphology 33 HP:0001317
11 increased neuronal autofluorescent lipopigment 33 HP:0002074
12 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003205
13 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003208
14 rectilinear intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003226

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
myoclonus
dementia
cerebellar ataxia
cerebellar signs
more
Laboratory Abnormalities:
'fingerprint' profiles ultrastructurally
'curvilinear' profiles ultrastructurally
'rectilinear' profiles ultrastructurally
granular osmiophilic deposits (grod) in cells

Neurologic Behavioral Psychiatric Manifestations:
depression
behavioral changes
auditory and visual hallucinations

Clinical features from OMIM:

162350

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant:


seizures, myoclonus, abnormality of extrapyramidal motor function, cerebellar ataxia, cerebellar signs

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 4b Autosomal Dominant 30 DNAJC5

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant:

42
Brain, Eye, Cerebellum

Publications for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

Articles related to Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant:

# Title Authors Year
1
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. ( 22978711 )
2013
2
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. ( 22235333 )
2012
3
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. ( 22073189 )
2011
4
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. ( 21820099 )
2011
5
Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama. ( 12790899 )
2003
6
Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. ( 12112194 )
2002
7
Autosomal dominant Kufs' disease: a cause of early onset dementia. ( 11489285 )
2001
8
A dominant form of neuronal ceroid-lipofuscinosis. ( 5132971 )
1971

Variations for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant:

76
# Symbol AA change Variation ID SNP ID
1 DNAJC5 p.Leu115Arg VAR_066555 rs387907043

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJC5 NM_025219.2(DNAJC5): c.346_348delCTC (p.Leu116del) deletion Pathogenic rs587776892 GRCh37 Chromosome 20, 62562228: 62562230
2 DNAJC5 NM_025219.2(DNAJC5): c.346_348delCTC (p.Leu116del) deletion Pathogenic rs587776892 GRCh38 Chromosome 20, 63930875: 63930877
3 DNAJC5 NM_025219.2(DNAJC5): c.344T> G (p.Leu115Arg) single nucleotide variant Pathogenic rs387907043 GRCh37 Chromosome 20, 62562226: 62562226
4 DNAJC5 NM_025219.2(DNAJC5): c.344T> G (p.Leu115Arg) single nucleotide variant Pathogenic rs387907043 GRCh38 Chromosome 20, 63930873: 63930873

Expression for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant.

Pathways for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

GO Terms for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

Sources for Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

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75 UMLS via Orphanet
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