CLN4
MCID: CRD257
MIFTS: 42

Ceroid Lipofuscinosis, Neuronal, 4 (CLN4)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 4

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 4:

Name: Ceroid Lipofuscinosis, Neuronal, 4 57 28 5
Ceroid Lipofuscinosis, Neuronal, Parry Type 57 19 71
Neuronal Ceroid Lipofuscinosis 4b 11 19 14
Cln4b Disease 11 19 58
Cln4b 19 42 73
Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 19 42
Autosomal Dominant Neuronal Ceroid Lipofuscinosis 4b 11 19
Adult Neuronal Ceroid Lipofuscinosis 42 71
Ceroid Lipofuscinosis, Neuronal, 4b , Autosomal Dominant 73
Ceroid Lipofuscinosis, Neuronal, 4 , Autosomal Dominant 57
Lipofuscinosis, Ceroid, Neuronal, Type 4, Parry Type 38
Ceroid Lipofuscinosis, Neuronal, 4, Parry Type 28
Neuronal Ceroid Lipofuscinosis 4 Parry Type 11
Neuronal Ceroid Lipofuscinosis Parry Type 73
Adult Neuronal Ceroid Lipofuscinosis 4b 19
Kuf's Disease, Autosomal Dominant 19
Neuronal Ceroid Lipofuscinosis 4 11
Kufs Disease Autosomal Dominant 73
Kuf's Disease Type B 19
Parry Disease 42
Cln4 Disease 42
Cln4 57

Characteristics:


Inheritance:

Ceroid Lipofuscinosis, Neuronal, 4: Autosomal dominant 57
Cln4b Disease: Autosomal dominant 58

Age Of Onset:

Cln4b Disease: Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
rapidly progressive
onset in adulthood (third to fourth decade)
for autosomal recessive forms, see cln6b and cln13


HPO:

30
ceroid lipofuscinosis, neuronal, 4:
Onset and clinical course rapidly progressive


Classifications:

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


External Ids:

Disease Ontology 11 DOID:0110720
OMIM® 57 162350
OMIM Phenotypic Series 57 PS256730
MeSH 43 D009472
ICD10 31 E75.4
ICD10 via Orphanet 32 E75.4
Orphanet 58 ORPHA228343
MedGen 40 C1834207
UMLS 71 C0022797 C1834207

Summaries for Ceroid Lipofuscinosis, Neuronal, 4

MedlinePlus Genetics: 42 CLN4 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 CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.People with CLN4 disease often develop seizures and uncontrollable muscle jerks (myoclonic epilepsy), a decline in intellectual function (dementia), problems with coordination and balance (ataxia), tremors or other involuntary movements (motor tics), and speech difficulties (dysarthria). The signs and symptoms of CLN4 disease worsen over time, and affected individuals usually survive about 15 years after the disorder begins.CLN4 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. (The adult forms of NCLs, which includes CLN4 disease, are sometimes known as Kufs disease.) All the NCLs affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.

MalaCards based summary: Ceroid Lipofuscinosis, Neuronal, 4, also known as ceroid lipofuscinosis, neuronal, parry type, is related to ceroid lipofuscinosis, neuronal, 1 and ceroid lipofuscinosis, neuronal, 6b, and has symptoms including myoclonus, abnormality of extrapyramidal motor function and seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 4 is DNAJC5 (DnaJ Heat Shock Protein Family (Hsp40) Member C5). Affiliated tissues include eye, brain and cerebellum, and related phenotypes are depression and bilateral tonic-clonic seizure

OMIM®: 57 Neuronal ceroid lipofuscinosis-4 (CLN4) 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 08-Dec-2022)

GARD: 19 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 in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 4

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 4 Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 6b Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 6a
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, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 1 31.3 DNAJC5 C14orf178
2 ceroid lipofuscinosis, neuronal, 6b 11.6
3 adult neuronal ceroid lipofuscinosis 11.0
4 adult syndrome 10.4
5 epilepsy, progressive myoclonic, 4, with or without renal failure 10.4
6 ceroid lipofuscinosis, neuronal, 6a 10.4
7 aceruloplasminemia 10.4
8 myoclonus 10.4
9 ceroid lipofuscinosis, neuronal, 5 10.3
10 parkinsonism 10.3
11 progressive bulbar palsy 10.3
12 alzheimer disease, familial, 1 10.2
13 glioma susceptibility 1 10.2
14 huntington disease 10.2
15 pick disease of brain 10.2
16 neurodegeneration with brain iron accumulation 1 10.2
17 myoclonic epilepsy of unverricht and lundborg 10.2
18 graves disease 1 10.2
19 ceroid lipofuscinosis, neuronal, 8 10.2
20 neurodegeneration with brain iron accumulation 10.2
21 peripheral retinal degeneration 10.2
22 graves' disease 10.2
23 niemann-pick disease 10.2
24 glioblastoma 10.2
25 movement disease 10.2
26 dystonia 10.2
27 prion disease 10.2
28 muscular atrophy 10.2
29 retinal degeneration 10.2
30 progressive myoclonus epilepsy 10.2
31 47 xxx syndrome 10.2
32 glioma 10.2
33 myoclonus epilepsy 10.2
34 cerebral atrophy 10.2
35 glial tumor 10.2
36 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.9
37 ceroid lipofuscinosis, neuronal, 3 9.9
38 ceroid lipofuscinosis, neuronal, 2 9.9
39 neuronal ceroid-lipofuscinoses 9.9
40 neuronal ceroid lipofuscinosis 9.9
41 hypersensitivity reaction type iv disease 9.7 ARFGAP3 ARFGAP1
42 autoimmune lymphoproliferative syndrome 9.6 ARFGAP3 ARFGAP1
43 hypotrichosis-lymphedema-telangiectasia syndrome 9.5 SOX18 ARFGAP3 ARFGAP1

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



Diseases related to Ceroid Lipofuscinosis, Neuronal, 4

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 4

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 4:

30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depression 30 Very rare (1%) HP:0000716
2 bilateral tonic-clonic seizure 30 Very rare (1%) HP:0002069
3 dementia 30 Very rare (1%) HP:0000726
4 granular osmiophilic deposits (grod) in cells 30 Very rare (1%) HP:0003657
5 myoclonic seizure 30 Very rare (1%) HP:0032794
6 seizure 30 HP:0001250
7 ataxia 30 HP:0001251
8 myoclonus 30 HP:0001336
9 abnormal cerebellum morphology 30 HP:0001317
10 auditory hallucinations 30 HP:0008765
11 visual hallucinations 30 HP:0002367
12 parkinsonism 30 HP:0001300
13 increased neuronal autofluorescent lipopigment 30 HP:0002074
14 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 30 HP:0003208
15 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 30 HP:0003205
16 rectilinear intracellular accumulation of autofluorescent lipopigment storage material 30 HP:0003226

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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

Neurologic Central Nervous System:
myoclonus
dementia
seizures
cerebellar ataxia
cerebellar signs
more

Clinical features from OMIM®:

162350 (Updated 08-Dec-2022)

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 4:


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

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database Recruiting NCT04613089

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 4

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 4

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 4:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis, Neuronal, 4 (kufs Type) 28 DNAJC5
2 Ceroid Lipofuscinosis, Neuronal, 4, Parry Type 28

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 4

Organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 4:

MalaCards : Eye, Brain, Cerebellum, Retina
ODiseA: Brain

Publications for Ceroid Lipofuscinosis, Neuronal, 4

Articles related to Ceroid Lipofuscinosis, Neuronal, 4:

(show top 50) (show all 71)
# Title Authors PMID Year
1
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing. 62 57 5
31919451 2020
2
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. 62 57 5
22073189 2011
3
Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. 62 57 5
12112194 2002
4
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. 57 5
22978711 2013
5
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 5
22235333 2012
6
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 57 5
21820099 2011
7
Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama. 57 5
12790899 2003
8
Autosomal dominant Kufs' disease: a cause of early onset dementia. 57 5
11489285 2001
9
A dominant form of neuronal ceroid-lipofuscinosis. 57 5
5132971 1971
10
Adult neuronal ceroid-lipofuscinosis. 62 57
2663281 1989
11
A golgi and ultrastructural study of a dominant form of Kufs' disease. 57
6153706 1980
12
Early diagnosis of Kuf's disease. 57
62240 1976
13
A dominant form of adult neuronal ceroidlipofuscinosis (Kufs' disease) with an associated occipital astrocytoma: early diagnosis by cortical biopsy. 57
932739 1976
14
Leukocyte peroxidase deficiency in a family with a dominant form of Kuf's disease. 57
4414475 1974
15
Molecular Indicators of Blood-Brain Barrier Breakdown and Neuronal Injury in Pregnancy Complicated by Fetal Growth Restriction. 62
36430274 2022
16
Blood-Brain Barrier Disintegration in Growth-Restricted Fetuses with Brain Sparing Effect. 62
36293204 2022
17
Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation. 62
35506243 2022
18
The bacterial toxin ExoU requires a host trafficking chaperone for transportation and to induce necrosis. 62
34188051 2021
19
Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy. 62
33242182 2021
20
Fly model sheds light on brain disease. 62
31808420 2019
21
A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism. 62
31663851 2019
22
Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report. 62
30249282 2018
23
Novel compound heterozygous mutations causing Kufs disease type B. 62
29120254 2018
24
Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis. 62
28740222 2017
25
An HNF4α-microRNA-194/192 signaling axis maintains hepatic cell function. 62
28465351 2017
26
The Role of Co-chaperones in Synaptic Proteostasis and Neurodegenerative Disease. 62
28579939 2017
27
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis. 62
27881166 2016
28
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). 62
27412140 2016
29
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. 62
26659577 2016
30
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). 62
26026925 2015
31
Cell biology of the NCL proteins: What they do and don't do. 62
25962910 2015
32
Expression profile of a Caenorhabditis elegans model of adult neuronal ceroid lipofuscinosis reveals down regulation of ubiquitin E3 ligase components. 62
26395859 2015
33
Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis. 62
25905915 2015
34
Oligomerization of Cysteine String Protein alpha mutants causing adult neuronal ceroid lipofuscinosis. 62
25064588 2014
35
Human pathology in NCL. 62
23200925 2013
36
Disilicon complexes with two hexacoordinate Si atoms: paddlewheel-shaped isomers with (ClN4 )Si-Si(S4 Cl) and (ClN2 S2 )Si-Si(S2 N2 Cl) skeletons. 62
24009095 2013
37
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 62
21990111 2012
38
A rare dementing disease: adult neuronal ceroid lipofuscinoses. 62
23224458 2012
39
Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form. 62
21819394 2011
40
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. 62
21235444 2011
41
EEG and granular osmiophilic elements in early-onset Alzheimer's disease. 62
21212640 2011
42
Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis. 62
19699676 2009
43
53-year-old man with rapid cognitive decline. 62
18363941 2008
44
[Adult-onset neuronal ceroid lipofuscinosis]. 62
17180669 2007
45
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. 62
17261688 2007
46
The intracellular location and function of proteins of neuronal ceroid lipofuscinoses. 62
14997940 2004
47
Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. 62
14655761 2003
48
Neuroleptic malignant syndrome in Kufs' disease. 62
12588937 2003
49
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. 62
11506414 2001
50
Neuronal ceroid lipofuscinoses: classification and diagnosis. 62
11332767 2001

Variations for Ceroid Lipofuscinosis, Neuronal, 4

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 4:

5 (show top 50) (show all 149)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAJC5 NM_025219.3(DNAJC5):c.347T>G (p.Leu116Arg) SNV Pathogenic
1178346 GRCh37: 20:62562229-62562229
GRCh38: 20:63930876-63930876
2 DNAJC5 NM_025219.3(DNAJC5):c.343CTC[1] (p.Leu116del) MICROSAT Pathogenic
30893 rs587776892 GRCh37: 20:62562224-62562226
GRCh38: 20:63930871-63930873
3 DNAJC5 NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg) SNV Pathogenic
30894 rs387907043 GRCh37: 20:62562226-62562226
GRCh38: 20:63930873-63930873
4 DNAJC5 NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup) DUP Pathogenic
689476 rs1600887859 GRCh37: 20:62562240-62562241
GRCh38: 20:63930887-63930888
5 DNAJC5 NM_025219.3(DNAJC5):c.153G>T (p.Pro51=) SNV Uncertain Significance
205367 rs151265913 GRCh37: 20:62560710-62560710
GRCh38: 20:63929357-63929357
6 DNAJC5 NM_025219.3(DNAJC5):c.162G>A (p.Ala54=) SNV Uncertain Significance
896432 rs781164296 GRCh37: 20:62560719-62560719
GRCh38: 20:63929366-63929366
7 DNAJC5 NM_025219.3(DNAJC5):c.438G>A (p.Thr146=) SNV Uncertain Significance
339357 rs746222594 GRCh37: 20:62562320-62562320
GRCh38: 20:63930967-63930967
8 DNAJC5 NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) SNV Uncertain Significance
339358 rs772254851 GRCh37: 20:62562326-62562326
GRCh38: 20:63930973-63930973
9 DNAJC5 NM_025219.3(DNAJC5):c.504C>T (p.Asp168=) SNV Uncertain Significance
339359 rs886056935 GRCh37: 20:62562828-62562828
GRCh38: 20:63931475-63931475
10 DNAJC5 NM_025219.3(DNAJC5):c.*2913G>A SNV Uncertain Significance
339416 rs539536316 GRCh37: 20:62565834-62565834
GRCh38: 20:63934481-63934481
11 DNAJC5 NM_025219.3(DNAJC5):c.*4070C>T SNV Uncertain Significance
339440 rs3810500 GRCh37: 20:62566991-62566991
GRCh38: 20:63935638-63935638
12 DNAJC5 NM_025219.3(DNAJC5):c.*3839G>A SNV Uncertain Significance
898247 rs145028189 GRCh37: 20:62566760-62566760
GRCh38: 20:63935407-63935407
13 DNAJC5 NM_025219.3(DNAJC5):c.*3870G>A SNV Uncertain Significance
339433 rs886056953 GRCh37: 20:62566791-62566791
GRCh38: 20:63935438-63935438
14 DNAJC5 NM_025219.3(DNAJC5):c.-194C>T SNV Uncertain Significance
339344 rs886056925 GRCh37: 20:62526494-62526494
GRCh38: 20:63895141-63895141
15 DNAJC5 NM_025219.3(DNAJC5):c.-186C>T SNV Uncertain Significance
339346 rs886056927 GRCh37: 20:62526502-62526502
GRCh38: 20:63895149-63895149
16 DNAJC5 NM_025219.3(DNAJC5):c.-185G>T SNV Uncertain Significance
339347 rs886056928 GRCh37: 20:62526503-62526503
GRCh38: 20:63895150-63895150
17 DNAJC5 NM_025219.3(DNAJC5):c.-109A>G SNV Uncertain Significance
339352 rs750302498 GRCh37: 20:62526579-62526579
GRCh38: 20:63895226-63895226
18 DNAJC5 NM_025219.3(DNAJC5):c.-95G>C SNV Uncertain Significance
339353 rs886056932 GRCh37: 20:62526593-62526593
GRCh38: 20:63895240-63895240
19 DNAJC5 NM_025219.3(DNAJC5):c.-89C>G SNV Uncertain Significance
339354 rs886056933 GRCh37: 20:62526599-62526599
GRCh38: 20:63895246-63895246
20 DNAJC5 NM_025219.3(DNAJC5):c.-12+11T>A SNV Uncertain Significance
899121 rs1216840252 GRCh37: 20:62526687-62526687
GRCh38: 20:63895334-63895334
21 DNAJC5 NM_025219.3(DNAJC5):c.-12+15G>T SNV Uncertain Significance
899122 rs2053366716 GRCh37: 20:62526691-62526691
GRCh38: 20:63895338-63895338
22 DNAJC5 NM_025219.3(DNAJC5):c.*276C>T SNV Uncertain Significance
339365 rs764108980 GRCh37: 20:62563197-62563197
GRCh38: 20:63931844-63931844
23 DNAJC5 NM_025219.3(DNAJC5):c.*286G>A SNV Uncertain Significance
339366 rs886056940 GRCh37: 20:62563207-62563207
GRCh38: 20:63931854-63931854
24 DNAJC5 NM_025219.3(DNAJC5):c.*298C>T SNV Uncertain Significance
899180 rs915298444 GRCh37: 20:62563219-62563219
GRCh38: 20:63931866-63931866
25 DNAJC5 NM_025219.3(DNAJC5):c.*322G>A SNV Uncertain Significance
339367 rs143646564 GRCh37: 20:62563243-62563243
GRCh38: 20:63931890-63931890
26 DNAJC5 NM_025219.3(DNAJC5):c.*3480G>C SNV Uncertain Significance
339429 rs577249426 GRCh37: 20:62566401-62566401
GRCh38: 20:63935048-63935048
27 DNAJC5 NM_025219.3(DNAJC5):c.*3550C>T SNV Uncertain Significance
898245 rs546308193 GRCh37: 20:62566471-62566471
GRCh38: 20:63935118-63935118
28 DNAJC5 NM_025219.3(DNAJC5):c.*3608G>C SNV Uncertain Significance
898246 rs2053707906 GRCh37: 20:62566529-62566529
GRCh38: 20:63935176-63935176
29 DNAJC5 NM_025219.3(DNAJC5):c.*412C>T SNV Uncertain Significance
339368 rs886056941 GRCh37: 20:62563333-62563333
GRCh38: 20:63931980-63931980
30 DNAJC5 NM_025219.3(DNAJC5):c.*458G>A SNV Uncertain Significance
899182 rs941396645 GRCh37: 20:62563379-62563379
GRCh38: 20:63932026-63932026
31 DNAJC5 NM_025219.3(DNAJC5):c.*486G>A SNV Uncertain Significance
899183 rs2053677825 GRCh37: 20:62563407-62563407
GRCh38: 20:63932054-63932054
32 DNAJC5 NM_025219.3(DNAJC5):c.*1391G>A SNV Uncertain Significance
339390 rs886056944 GRCh37: 20:62564312-62564312
GRCh38: 20:63932959-63932959
33 DNAJC5 NM_025219.3(DNAJC5):c.*1391G>C SNV Uncertain Significance
339391 rs886056944 GRCh37: 20:62564312-62564312
GRCh38: 20:63932959-63932959
34 DNAJC5 NM_025219.3(DNAJC5):c.*1557T>G SNV Uncertain Significance
339395 rs542172964 GRCh37: 20:62564478-62564478
GRCh38: 20:63933125-63933125
35 DNAJC5 NM_025219.3(DNAJC5):c.*1934T>G SNV Uncertain Significance
896557 rs768056284 GRCh37: 20:62564855-62564855
GRCh38: 20:63933502-63933502
36 DNAJC5 NM_025219.3(DNAJC5):c.*2849A>G SNV Uncertain Significance
899293 rs978741488 GRCh37: 20:62565770-62565770
GRCh38: 20:63934417-63934417
37 DNAJC5 NM_025219.3(DNAJC5):c.*4036G>A SNV Uncertain Significance
899356 rs758582743 GRCh37: 20:62566957-62566957
GRCh38: 20:63935604-63935604
38 DNAJC5 NM_025219.3(DNAJC5):c.*4057C>T SNV Uncertain Significance
339437 rs886056954 GRCh37: 20:62566978-62566978
GRCh38: 20:63935625-63935625
39 DNAJC5 NM_025219.3(DNAJC5):c.*686C>T SNV Uncertain Significance
339369 rs886056942 GRCh37: 20:62563607-62563607
GRCh38: 20:63932254-63932254
40 DNAJC5 NM_025219.3(DNAJC5):c.107+8G>T SNV Uncertain Significance
894988 rs2053633876 GRCh37: 20:62559813-62559813
GRCh38: 20:63928460-63928460
41 DNAJC5 NM_025219.3(DNAJC5):c.*736G>A SNV Uncertain Significance
895065 rs552739074 GRCh37: 20:62563657-62563657
GRCh38: 20:63932304-63932304
42 DNAJC5 NM_025219.3(DNAJC5):c.*1836C>T SNV Uncertain Significance
895127 rs752208413 GRCh37: 20:62564757-62564757
GRCh38: 20:63933404-63933404
43 DNAJC5 NM_025219.3(DNAJC5):c.*1873C>T SNV Uncertain Significance
895128 rs1349641328 GRCh37: 20:62564794-62564794
GRCh38: 20:63933441-63933441
44 DNAJC5 NM_025219.3(DNAJC5):c.*1893C>A SNV Uncertain Significance
895129 rs1315620182 GRCh37: 20:62564814-62564814
GRCh38: 20:63933461-63933461
45 DNAJC5 NM_025219.3(DNAJC5):c.*1895C>G SNV Uncertain Significance
339401 rs886056945 GRCh37: 20:62564816-62564816
GRCh38: 20:63933463-63933463
46 DNAJC5 NM_025219.3(DNAJC5):c.*2933C>T SNV Uncertain Significance
339417 rs886056946 GRCh37: 20:62565854-62565854
GRCh38: 20:63934501-63934501
47 DNAJC5 NM_025219.3(DNAJC5):c.*2980C>A SNV Uncertain Significance
895201 rs1600892537 GRCh37: 20:62565901-62565901
GRCh38: 20:63934548-63934548
48 DNAJC5 NM_025219.3(DNAJC5):c.*2983C>T SNV Uncertain Significance
895202 rs1251113332 GRCh37: 20:62565904-62565904
GRCh38: 20:63934551-63934551
49 DNAJC5 NM_025219.3(DNAJC5):c.*2993C>T SNV Uncertain Significance
339418 rs886056947 GRCh37: 20:62565914-62565914
GRCh38: 20:63934561-63934561
50 DNAJC5 NM_025219.3(DNAJC5):c.*3009G>A SNV Uncertain Significance
339419 rs886056948 GRCh37: 20:62565930-62565930
GRCh38: 20:63934577-63934577

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

73
# Symbol AA change Variation ID SNP ID
1 DNAJC5 p.Leu115Arg VAR_066555 rs387907043

Expression for Ceroid Lipofuscinosis, Neuronal, 4

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

Pathways for Ceroid Lipofuscinosis, Neuronal, 4

GO Terms for Ceroid Lipofuscinosis, Neuronal, 4

Sources for Ceroid Lipofuscinosis, Neuronal, 4

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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