CLN4B
MCID: CRD225
MIFTS: 45

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 57 20
Neuronal Ceroid Lipofuscinosis 4b 12 20 29 6 15
Ceroid Lipofuscinosis, Neuronal, 4, Parry Type 57 29 13
Ceroid Lipofuscinosis, Neuronal, Parry Type 57 20 70
Cln4b Disease 12 20 58
Cln4b 57 20 72
Autosomal Dominant Neuronal Ceroid Lipofuscinosis 4b 12 20
Lipofuscinosis, Ceroid, Neuronal, Type 4, Parry Type 39
Neuronal Ceroid Lipofuscinosis 4 Parry Type 12
Neuronal Ceroid Lipofuscinosis Parry Type 72
Adult Neuronal Ceroid Lipofuscinosis 4b 20
Ceroid Lipofuscinosis, Neuronal, 4b 72
Kuf's Disease, Autosomal Dominant 20
Kufs Disease, Autosomal Dominant 57
Kufs Disease Autosomal Dominant 72
Kuf's Disease Type B 20

Characteristics:

Orphanet epidemiological data:

58
cln4b disease
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
rapidly progressive
onset in adulthood (third to fourth decade)
for similar autosomal recessive form, see cln4

Inheritance:
autosomal dominant


HPO:

31
ceroid lipofuscinosis, neuronal, 4b, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset rapidly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110720
OMIM® 57 162350
OMIM Phenotypic Series 57 PS256730
MeSH 44 D009472
ICD10 32 E75.4
ICD10 via Orphanet 33 E75.4
Orphanet 58 ORPHA228343
MedGen 41 C1834207
UMLS 70 C1834207

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

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant, also known as neuronal ceroid lipofuscinosis 4b, is related to cln4 disease and neuronal ceroid lipofuscinosis, 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), and among its related pathways/superpathways are Transmission across Chemical Synapses and Celecoxib Pathway, Pharmacodynamics. Affiliated tissues include eye and cerebellum, and related phenotypes are depressivity and ataxia

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.

GARD : 20 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 : 72 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

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 6
Ceroid Lipofuscinosis, Neuronal, 9 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 7 Ceroid Lipofuscinosis, Neuronal, 11
Ceroid Lipofuscinosis, Neuronal, 13 Adult Neuronal Ceroid Lipofuscinosis

Diseases related to Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 cln4 disease 11.6
2 neuronal ceroid lipofuscinosis 11.4
3 febrile seizures, familial, 1 10.0 KCNQ3 CHRNA4
4 hypersensitivity reaction type iv disease 10.0 ARFGAP3 ARFGAP1
5 kcnq2-related disorders 9.9 KCNQ3 KCNQ2
6 seizures, benign familial neonatal, 2 9.9 KCNQ3 KCNQ2
7 convulsions benign familial neonatal dominant form 9.9 KCNQ3 KCNQ2
8 developmental and epileptic encephalopathy 7 9.9 KCNQ3 KCNQ2
9 eastern equine encephalitis 9.9 KCNQ3 KCNQ2
10 infancy electroclinical syndrome 9.9 KCNQ3 KCNQ2
11 episodic ataxia, type 1 9.9 KCNQ3 KCNQ2
12 photosensitive epilepsy 9.8 KCNQ3 KCNQ2
13 episodic kinesigenic dyskinesia 1 9.8 KCNQ2 CHRNA4
14 familial febrile seizures 9.7 KCNQ3 CHRNA4
15 developmental and epileptic encephalopathy 9 9.7 PCDH17 KCNQ2
16 early onset absence epilepsy 9.7 KCNQ3 KCNQ2 CHRNA4
17 epilepsy, nocturnal frontal lobe, 1 9.7 KCNQ3 KCNQ2 CHRNA4
18 adolescence-adult electroclinical syndrome 9.7 KCNQ3 KCNQ2 CHRNA4
19 benign familial neonatal epilepsy 9.7 KCNQ3 KCNQ2 CHRNA4
20 benign neonatal seizures 9.7 KCNQ3 KCNQ2 CHRNA4
21 childhood electroclinical syndrome 9.7 KCNQ3 KCNQ2 CHRNA4
22 neonatal period electroclinical syndrome 9.7 KCNQ3 KCNQ2 CHRNA4
23 benign familial infantile epilepsy 9.7 KCNQ3 KCNQ2 CHRNA4
24 unverricht-lundborg syndrome 9.7 KCNQ3 KCNQ2 CHRNA4
25 early myoclonic encephalopathy 9.7 KCNQ3 KCNQ2 CHRNA4
26 autosomal dominant nocturnal frontal lobe epilepsy 9.6 KCNQ3 KCNQ2 CHRNA4
27 epilepsy, myoclonic juvenile 9.6 KCNQ3 KCNQ2 CHRNA4
28 generalized epilepsy with febrile seizures plus 9.6 KCNQ3 KCNQ2 CHRNA4
29 dravet syndrome 9.6 KCNQ3 KCNQ2 CHRNA4
30 epilepsy, idiopathic generalized 9.6 KCNQ3 KCNQ2 CHRNA4
31 childhood absence epilepsy 9.6 KCNQ3 KCNQ2 CHRNA4
32 lennox-gastaut syndrome 9.6 KCNQ3 KCNQ2
33 benign epilepsy with centrotemporal spikes 9.6 KCNQ3 KCNQ2 CHRNA4
34 seizure disorder 9.5 KCNQ3 KCNQ2 CHRNA4
35 early infantile epileptic encephalopathy 9.5 KCNQ3 KCNQ2 CHRNA4
36 hypotrichosis-lymphedema-telangiectasia syndrome 9.4 SOX18 PRPF6 CHRNA4 ARFGAP3 ARFGAP1

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant:



Diseases related to 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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 depressivity 31 HP:0000716
2 ataxia 31 HP:0001251
3 myoclonus 31 HP:0001336
4 abnormal cerebellum morphology 31 HP:0001317
5 dementia 31 HP:0000726
6 auditory hallucinations 31 HP:0008765
7 visual hallucinations 31 HP:0002367
8 parkinsonism 31 HP:0001300
9 seizure 31 HP:0001250
10 increased neuronal autofluorescent lipopigment 31 HP:0002074
11 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003205
12 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003208
13 rectilinear intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003226
14 granular osmiophilic deposits (grod) in cells 31 HP:0003657

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
myoclonus
dementia
cerebellar ataxia
cerebellar signs
more
Neurologic Behavioral Psychiatric Manifestations:
depression
behavioral changes
auditory and visual hallucinations

Laboratory Abnormalities:
granular osmiophilic deposits (grod) in cells
'fingerprint' profiles ultrastructurally
'curvilinear' profiles ultrastructurally
'rectilinear' profiles ultrastructurally

Clinical features from OMIM®:

162350 (Updated 20-May-2021)

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


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

GenomeRNAi Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.83 PRPF6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.83 ARFGAP3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.83 ARFGAP3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.83 ARFGAP3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.83 PRPF6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.83 ARFGAP3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.83 PRPF6
8 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.83 PCDH17
9 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.83 PCDH17
10 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.83 PRPF6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.83 PRPF6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.83 ARFGAP3 PCDH17
13 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.83 ARFGAP3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.83 PCDH17
15 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.02 DNAJC5 KCNQ2 PCDH17 PRPF6 SOX18

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 CHRNA4 DNAJC5 KCNQ2 KCNQ3 PCDH17 PRPF6

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 Neuronal Ceroid Lipofuscinosis 4b 29 DNAJC5
2 Ceroid Lipofuscinosis, Neuronal, 4, Parry Type 29

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

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

40
Eye, Cerebellum

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

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

(show all 14)
# Title Authors PMID Year
1
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. 6 57
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. 57 6
22235333 2012
3
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 6 57
21820099 2011
4
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. 57 6
22073189 2011
5
Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama. 57 6
12790899 2003
6
Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. 6 57
12112194 2002
7
Autosomal dominant Kufs' disease: a cause of early onset dementia. 6 57
11489285 2001
8
A dominant form of neuronal ceroid-lipofuscinosis. 57 6
5132971 1971
9
Adult neuronal ceroid-lipofuscinosis. 57
2663281 1989
10
A golgi and ultrastructural study of a dominant form of Kufs' disease. 57
6153706 1980
11
Early diagnosis of Kuf's disease. 57
62240 1976
12
A dominant form of adult neuronal ceroidlipofuscinosis (Kufs' disease) with an associated occipital astrocytoma: early diagnosis by cortical biopsy. 57
932739 1976
13
Leukocyte peroxidase deficiency in a family with a dominant form of Kuf's disease. 57
4414475 1974
14
An HNF4α-microRNA-194/192 signaling axis maintains hepatic cell function. 61
28465351 2017

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

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

6 (show top 50) (show all 148)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAJC5 NM_025219.3(DNAJC5):c.343_345CTC[1] (p.Leu116del) Microsatellite Pathogenic 30893 rs587776892 GRCh37: 20:62562224-62562226
GRCh38: 20:63930871-63930873
2 DNAJC5 NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg) SNV Pathogenic 30894 rs387907043 GRCh37: 20:62562226-62562226
GRCh38: 20:63930873-63930873
3 DNAJC5 NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup) Duplication Pathogenic 689476 rs1600887859 GRCh37: 20:62562240-62562241
GRCh38: 20:63930887-63930888
4 DNAJC5 NM_025219.3(DNAJC5):c.107+8G>T SNV Uncertain significance 894988 GRCh37: 20:62559813-62559813
GRCh38: 20:63928460-63928460
5 DNAJC5 NM_025219.3(DNAJC5):c.*686C>T SNV Uncertain significance 339369 rs886056942 GRCh37: 20:62563607-62563607
GRCh38: 20:63932254-63932254
6 DNAJC5 NM_025219.3(DNAJC5):c.*736G>A SNV Uncertain significance 895065 GRCh37: 20:62563657-62563657
GRCh38: 20:63932304-63932304
7 DNAJC5 NM_025219.3(DNAJC5):c.*2933C>T SNV Uncertain significance 339417 rs886056946 GRCh37: 20:62565854-62565854
GRCh38: 20:63934501-63934501
8 DNAJC5 NM_025219.3(DNAJC5):c.*2980C>A SNV Uncertain significance 895201 GRCh37: 20:62565901-62565901
GRCh38: 20:63934548-63934548
9 DNAJC5 NM_025219.3(DNAJC5):c.*2983C>T SNV Uncertain significance 895202 GRCh37: 20:62565904-62565904
GRCh38: 20:63934551-63934551
10 DNAJC5 NM_025219.3(DNAJC5):c.*2993C>T SNV Uncertain significance 339418 rs886056947 GRCh37: 20:62565914-62565914
GRCh38: 20:63934561-63934561
11 DNAJC5 NM_025219.3(DNAJC5):c.*3009G>A SNV Uncertain significance 339419 rs886056948 GRCh37: 20:62565930-62565930
GRCh38: 20:63934577-63934577
12 DNAJC5 NM_025219.3(DNAJC5):c.*3116T>A SNV Uncertain significance 339420 rs886056949 GRCh37: 20:62566037-62566037
GRCh38: 20:63934684-63934684
13 DNAJC5 NM_025219.3(DNAJC5):c.*3184G>A SNV Uncertain significance 895203 GRCh37: 20:62566105-62566105
GRCh38: 20:63934752-63934752
14 DNAJC5 NM_025219.3(DNAJC5):c.*853C>A SNV Uncertain significance 895066 GRCh37: 20:62563774-62563774
GRCh38: 20:63932421-63932421
15 DNAJC5 NM_025219.3(DNAJC5):c.*4253C>G SNV Uncertain significance 339444 rs886056955 GRCh37: 20:62567174-62567174
GRCh38: 20:63935821-63935821
16 DNAJC5 NM_025219.3(DNAJC5):c.*4317G>A SNV Uncertain significance 895256 GRCh37: 20:62567238-62567238
GRCh38: 20:63935885-63935885
17 DNAJC5 NM_025219.3(DNAJC5):c.*4375C>T SNV Uncertain significance 895257 GRCh37: 20:62567296-62567296
GRCh38: 20:63935943-63935943
18 DNAJC5 NM_025219.3(DNAJC5):c.437C>T (p.Thr146Met) SNV Uncertain significance 896433 GRCh37: 20:62562319-62562319
GRCh38: 20:63930966-63930966
19 DNAJC5 NM_025219.3(DNAJC5):c.438G>A (p.Thr146=) SNV Uncertain significance 339357 rs746222594 GRCh37: 20:62562320-62562320
GRCh38: 20:63930967-63930967
20 DNAJC5 NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) SNV Uncertain significance 339358 rs772254851 GRCh37: 20:62562326-62562326
GRCh38: 20:63930973-63930973
21 DNAJC5 NM_025219.3(DNAJC5):c.504C>T (p.Asp168=) SNV Uncertain significance 339359 rs886056935 GRCh37: 20:62562828-62562828
GRCh38: 20:63931475-63931475
22 DNAJC5 NM_025219.3(DNAJC5):c.*66C>T SNV Uncertain significance 896434 GRCh37: 20:62562987-62562987
GRCh38: 20:63931634-63931634
23 DNAJC5 NM_025219.3(DNAJC5):c.153G>T (p.Pro51=) SNV Uncertain significance 205367 rs151265913 GRCh37: 20:62560710-62560710
GRCh38: 20:63929357-63929357
24 DNAJC5 NM_025219.3(DNAJC5):c.162G>A (p.Ala54=) SNV Uncertain significance 896432 GRCh37: 20:62560719-62560719
GRCh38: 20:63929366-63929366
25 DNAJC5 NM_025219.3(DNAJC5):c.*853C>T SNV Uncertain significance 339376 rs6011230 GRCh37: 20:62563774-62563774
GRCh38: 20:63932421-63932421
26 DNAJC5 NM_025219.3(DNAJC5):c.*944A>T SNV Uncertain significance 896507 GRCh37: 20:62563865-62563865
GRCh38: 20:63932512-63932512
27 DNAJC5 NM_025219.3(DNAJC5):c.*948G>A SNV Uncertain significance 896508 GRCh37: 20:62563869-62563869
GRCh38: 20:63932516-63932516
28 DNAJC5 NM_025219.3(DNAJC5):c.*1895C>G SNV Uncertain significance 339401 rs886056945 GRCh37: 20:62564816-62564816
GRCh38: 20:63933463-63933463
29 DNAJC5 NM_025219.3(DNAJC5):c.*1893C>A SNV Uncertain significance 895129 GRCh37: 20:62564814-62564814
GRCh38: 20:63933461-63933461
30 DNAJC5 NM_025219.3(DNAJC5):c.*1873C>T SNV Uncertain significance 895128 GRCh37: 20:62564794-62564794
GRCh38: 20:63933441-63933441
31 DNAJC5 NM_025219.3(DNAJC5):c.*1836C>T SNV Uncertain significance 895127 GRCh37: 20:62564757-62564757
GRCh38: 20:63933404-63933404
32 DNAJC5 NM_025219.3(DNAJC5):c.*1915C>T SNV Uncertain significance 896555 GRCh37: 20:62564836-62564836
GRCh38: 20:63933483-63933483
33 DNAJC5 NM_025219.3(DNAJC5):c.*1927G>A SNV Uncertain significance 896556 GRCh37: 20:62564848-62564848
GRCh38: 20:63933495-63933495
34 DNAJC5 NM_025219.3(DNAJC5):c.*1934T>G SNV Uncertain significance 896557 GRCh37: 20:62564855-62564855
GRCh38: 20:63933502-63933502
35 DNAJC5 NM_025219.3(DNAJC5):c.*3213G>A SNV Uncertain significance 896617 GRCh37: 20:62566134-62566134
GRCh38: 20:63934781-63934781
36 DNAJC5 NM_025219.3(DNAJC5):c.*3215C>G SNV Uncertain significance 896618 GRCh37: 20:62566136-62566136
GRCh38: 20:63934783-63934783
37 DNAJC5 NM_025219.3(DNAJC5):c.*3224C>T SNV Uncertain significance 896619 GRCh37: 20:62566145-62566145
GRCh38: 20:63934792-63934792
38 DNAJC5 NM_025219.3(DNAJC5):c.*3239C>T SNV Uncertain significance 339422 rs886056950 GRCh37: 20:62566160-62566160
GRCh38: 20:63934807-63934807
39 DNAJC5 NM_025219.3(DNAJC5):c.*3252G>A SNV Uncertain significance 339423 rs545688443 GRCh37: 20:62566173-62566173
GRCh38: 20:63934820-63934820
40 DNAJC5 NM_025219.3(DNAJC5):c.*2171G>A SNV Uncertain significance 896559 GRCh37: 20:62565092-62565092
GRCh38: 20:63933739-63933739
41 DNAJC5 NM_025219.3(DNAJC5):c.*2191G>C SNV Uncertain significance 339403 rs550048168 GRCh37: 20:62565112-62565112
GRCh38: 20:63933759-63933759
42 DNAJC5 NM_025219.3(DNAJC5):c.*3375C>T SNV Uncertain significance 339426 rs886056951 GRCh37: 20:62566296-62566296
GRCh38: 20:63934943-63934943
43 DNAJC5 NM_025219.3(DNAJC5):c.*4387C>G SNV Uncertain significance 339447 rs550273913 GRCh37: 20:62567308-62567308
GRCh38: 20:63935955-63935955
44 DNAJC5 NM_025219.3(DNAJC5):c.*80A>G SNV Uncertain significance 339360 rs886056936 GRCh37: 20:62563001-62563001
GRCh38: 20:63931648-63931648
45 DNAJC5 NM_025219.3(DNAJC5):c.*135C>T SNV Uncertain significance 339361 rs886056937 GRCh37: 20:62563056-62563056
GRCh38: 20:63931703-63931703
46 DNAJC5 NM_025219.3(DNAJC5):c.*158A>T SNV Uncertain significance 898060 GRCh37: 20:62563079-62563079
GRCh38: 20:63931726-63931726
47 DNAJC5 NM_025219.3(DNAJC5):c.*177T>C SNV Uncertain significance 898061 GRCh37: 20:62563098-62563098
GRCh38: 20:63931745-63931745
48 DNAJC5 NM_025219.3(DNAJC5):c.*243G>A SNV Uncertain significance 339363 rs886056938 GRCh37: 20:62563164-62563164
GRCh38: 20:63931811-63931811
49 DNAJC5 NM_025219.3(DNAJC5):c.*273C>G SNV Uncertain significance 339364 rs886056939 GRCh37: 20:62563194-62563194
GRCh38: 20:63931841-63931841
50 DNAJC5 NM_025219.3(DNAJC5):c.*274C>T SNV Uncertain significance 898062 GRCh37: 20:62563195-62563195
GRCh38: 20:63931842-63931842

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

72
# Symbol AA change Variation ID SNP ID
1 DNAJC5 p.Leu115Arg VAR_066555 rs387907043

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

Pathways related to Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.11 KCNQ3 KCNQ2 DNAJC5 CHRNA4
2 10.92 KCNQ3 KCNQ2
3 10.1 KCNQ3 KCNQ2

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

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.46 KCNQ3 KCNQ2 CHRNA4 ARFGAP1
2 voltage-gated potassium channel complex GO:0008076 9.26 KCNQ3 KCNQ2
3 axon initial segment GO:0043194 8.96 KCNQ3 KCNQ2
4 node of Ranvier GO:0033268 8.62 KCNQ3 KCNQ2

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retrograde vesicle-mediated transport, Golgi to ER GO:0006890 9.16 ARFGAP3 ARFGAP1
2 ion transmembrane transport GO:0034220 9.13 KCNQ3 KCNQ2 CHRNA4
3 chemical synaptic transmission GO:0007268 8.8 KCNQ3 KCNQ2 CHRNA4

Molecular functions related to Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.26 KCNQ3 KCNQ2
2 voltage-gated potassium channel activity GO:0005249 9.16 KCNQ3 KCNQ2
3 delayed rectifier potassium channel activity GO:0005251 8.96 KCNQ3 KCNQ2
4 ion channel activity GO:0005216 8.8 KCNQ3 KCNQ2 CHRNA4

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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