ANCL
MCID: ADL066
MIFTS: 47

Adult Neuronal Ceroid Lipofuscinosis (ANCL)

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

Aliases & Classifications for Adult Neuronal Ceroid Lipofuscinosis

MalaCards integrated aliases for Adult Neuronal Ceroid Lipofuscinosis:

Name: Adult Neuronal Ceroid Lipofuscinosis 20 58 29 6 70
Kufs Disease 20 58 36
Adult Ncl 20 58
Ancl 20 58
Cln4 Disease, Adult Autosomal Dominant 20
Neuronal Ceroid Lipofuscinosis 4 20
Kuf's Disease 20

Characteristics:

Orphanet epidemiological data:

58
adult neuronal ceroid lipofuscinosis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult; Age of death: adult;

Classifications:

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


External Ids:

KEGG 36 H02276
MESH via Orphanet 45 C537950
ICD10 via Orphanet 33 E75.4
UMLS via Orphanet 71 C0022797 C2931675
Orphanet 58 ORPHA79262
UMLS 70 C0022797

Summaries for Adult Neuronal Ceroid Lipofuscinosis

GARD : 20 Adult neuronal ceroid lipofuscinosis 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. There are two forms of adult neuronal ceroid lipofuscinosis that are differentiated by their underlying genetic cause, mode of inheritance and certain symptoms: Type A is characterized by a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy ); dementia ; difficulties with muscle coordination ( ataxia ); involuntary movements such as tremors or tics; and dysarthria. It is caused by changes ( mutations ) in the CLN6 or PPT1 gene and is inherited in an autosomal recessive manner. Type B shares many features with type A; however, affected people also experience behavioral abnormalities and do not develop myoclonic epilepsy or dysarthria. It can be caused by mutations in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options for adult neuronal ceroid lipofuscinosis are limited to therapies that can help relieve some of the symptoms.

MalaCards based summary : Adult Neuronal Ceroid Lipofuscinosis, also known as kufs disease, is related to ceroid lipofuscinosis, neuronal, 4a, autosomal recessive and ceroid lipofuscinosis, neuronal, 13, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Adult Neuronal Ceroid Lipofuscinosis is CLN6 (CLN6 Transmembrane ER Protein), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Lysosome. Affiliated tissues include eye, retina and brain, and related phenotypes are abnormal pyramidal sign and ataxia

KEGG : 36 Kufs disease, an adult-onset neuronal ceroid lipofuscinosis (NCL), differs from most other forms of NCL because the retina is not involved, and vision is preserved. The clinical presentation has been divided into two types. Type A presents with progressive myoclonus epilepsy, whereas type B presents with dementia and a variety of motor disturbances. It has been reported that mutations in CLN6 cause recessive type A Kufs disease. Mutations in DNAJC5 have been found in some cases of dominant Kufs disease, also presenting with progressive myoclonus epilepsy. Mutations in CTSF were recently identified in recessive type B Kufs disease.

Related Diseases for Adult Neuronal Ceroid Lipofuscinosis

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 Adult Neuronal Ceroid Lipofuscinosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 31.9 TPP1 PPT1 DNAJC5 CLN6
2 ceroid lipofuscinosis, neuronal, 13 30.4 TPP1 PPT1 DNAJC5 CTSF CLN6
3 progressive myoclonus epilepsy 30.3 TPP1 CLN6
4 ceroid lipofuscinosis, neuronal, 2 29.7 TPP1 PPT1 DNAJC5 CLN6
5 ceroid lipofuscinosis, neuronal, 1 29.3 TPP1 PPT1 DNAJC5 CTSF CLN6
6 neuronal ceroid-lipofuscinoses 28.7 TPP1 PSAP PPT1 GRN DNAJC5 CTSF
7 ceroid lipofuscinosis, neuronal, 3 28.7 TPP1 PPT1 DNAJC5 CTSF CLN6
8 neuronal ceroid lipofuscinosis 28.6 TPP1 PSAP PPT1 PDCD6IP GRN DNAJC5
9 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.7
10 cln4 disease 11.7
11 epilepsy, progressive myoclonic, 4, with or without renal failure 10.4
12 myoclonus 10.4
13 parkinsonism 10.3
14 alzheimer disease 10.2
15 huntington disease 10.2
16 pick disease of brain 10.2
17 ataxia and polyneuropathy, adult-onset 10.2
18 ceroid lipofuscinosis, neuronal, 6 10.2
19 neurodegeneration with brain iron accumulation 10.2
20 niemann-pick disease 10.2
21 glioblastoma 10.2
22 movement disease 10.2
23 dystonia 10.2
24 prion disease 10.2
25 muscular atrophy 10.2
26 retinal degeneration 10.2
27 47,xyy 10.2
28 glioma 10.2
29 myoclonus epilepsy 10.2
30 cerebral atrophy 10.2
31 dysphagia 10.2
32 glial tumor 10.2
33 ceroid lipofuscinosis, neuronal, 9 10.1 DNAJC5 CLN6
34 seizure disorder 10.1
35 aphasia 10.0
36 early myoclonic encephalopathy 10.0
37 glycoproteinosis 10.0 PSAP CLN6
38 aspartylglucosaminuria 10.0 PSAP CLN6
39 leukodystrophy 10.0
40 dementia - subcortical 10.0
41 visual epilepsy 10.0 PPT1 DNAJC5 CLN6
42 sandhoff disease 10.0 PSAP CLN6
43 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.0 PPT1 DNAJC5 CLN6
44 mucopolysaccharidosis, type iiib 9.9 TPP1 CLN6
45 unverricht-lundborg syndrome 9.9 PPT1 CLN6
46 gm2 gangliosidosis 9.9 PSAP CLN6
47 gm1 gangliosidosis 9.9 PSAP CLN6
48 amyotrophic lateral sclerosis 1 9.9
49 creutzfeldt-jakob disease 9.9
50 glioma susceptibility 1 9.9

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



Diseases related to Adult Neuronal Ceroid Lipofuscinosis

Symptoms & Phenotypes for Adult Neuronal Ceroid Lipofuscinosis

Human phenotypes related to Adult Neuronal Ceroid Lipofuscinosis:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
4 motor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002333
5 abnormality of extrapyramidal motor function 58 31 hallmark (90%) Very frequent (99-80%) HP:0002071
6 dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000726
7 psychotic episodes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000725
8 orofacial dyskinesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002310
9 generalized myoclonic seizure 31 hallmark (90%) HP:0002123
10 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
11 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
12 generalized myoclonic seizures 58 Very frequent (99-80%)
13 mental deterioration 58 Very frequent (99-80%)

UMLS symptoms related to Adult Neuronal Ceroid Lipofuscinosis:


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

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.47 PSAP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.47 PDCD6IP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-125 9.47 PDCD6IP
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.47 PSAP
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.47 PDCD6IP PPT1 PSAP
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.47 PDCD6IP
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-196 9.47 PPT1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.47 PSAP
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.47 PDCD6IP
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.47 PSAP
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.47 PPT1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.47 PPT1

MGI Mouse Phenotypes related to Adult Neuronal Ceroid Lipofuscinosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 CLN6 CTSF DNAJC5 GRN PDCD6IP PPT1
2 nervous system MP:0003631 9.23 CLN6 CTSF DNAJC5 GRN PDCD6IP PPT1

Drugs & Therapeutics for Adult Neuronal Ceroid Lipofuscinosis

Search Clinical Trials , NIH Clinical Center for Adult Neuronal Ceroid Lipofuscinosis

Genetic Tests for Adult Neuronal Ceroid Lipofuscinosis

Genetic tests related to Adult Neuronal Ceroid Lipofuscinosis:

# Genetic test Affiliating Genes
1 Adult Neuronal Ceroid Lipofuscinosis 29 CLN6

Anatomical Context for Adult Neuronal Ceroid Lipofuscinosis

MalaCards organs/tissues related to Adult Neuronal Ceroid Lipofuscinosis:

40
Eye, Retina, Brain, Cerebellum, Skeletal Muscle

Publications for Adult Neuronal Ceroid Lipofuscinosis

Articles related to Adult Neuronal Ceroid Lipofuscinosis:

(show top 50) (show all 147)
# Title Authors PMID Year
1
Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease. 61 6
25274848 2014
2
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. 6 61
22978711 2013
3
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. 6 61
23297359 2013
4
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. 61 6
22235333 2012
5
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 6 61
21549341 2011
6
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. 6 61
22073189 2011
7
Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama. 61 6
12790899 2003
8
Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. 6 61
12112194 2002
9
Autosomal dominant Kufs' disease: a cause of early onset dementia. 6 61
11489285 2001
10
Kufs' disease: a critical reappraisal. 61 6
3284607 1988
11
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. 6
30279455 2020
12
Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy. 6
28264768 2017
13
GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil. 6
27082848 2016
14
Analyses MAPT, GRN, and C9orf72 mutations in Chinese patients with frontotemporal dementia. 6
27311648 2016
15
A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. 6
27258413 2016
16
Asymmetric pathology in primary progressive aphasia with progranulin mutations and TDP inclusions. 6
26791154 2016
17
Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. 6
23338682 2013
18
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 6
22608501 2012
19
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. 6
22366795 2012
20
Serum progranulin levels in patients with frontotemporal lobar degeneration and Alzheimer's disease: detection of GRN mutations in a Spanish cohort. 6
22647257 2012
21
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 6
21820099 2011
22
FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases. 6
21569259 2011
23
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. 6
21482928 2011
24
Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging. 6
20522652 2010
25
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. 6
20142524 2010
26
The heritability and genetics of frontotemporal lobar degeneration. 6
19884572 2009
27
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series. 6
18392865 2008
28
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. 6
18183624 2008
29
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. 6
18234697 2008
30
Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations. 6
17698705 2007
31
A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. 6
17439980 2007
32
Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. 6
17202431 2007
33
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. 6
17334266 2007
34
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 6
16950801 2006
35
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 6
16862116 2006
36
A dominant form of neuronal ceroid-lipofuscinosis. 6
5132971 1971
37
Novel CTSF Indel in a patient with Kufs disease and resistant schizophrenia: A case report. 61
33578366 2021
38
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing. 61
31919451 2020
39
Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations - A previously unreported association. 61
33024953 2020
40
An Italian multicentre study of perampanel in progressive myoclonus epilepsies. 61
31446282 2019
41
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. 61
30561534 2019
42
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. 61
30249282 2018
43
Novel compound heterozygous mutations causing Kufs disease type B. 61
29120254 2018
44
Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease. 61
29506599 2018
45
The neuropathology of the adult cerebellum. 61
29903436 2018
46
Primary fibroblasts from CSPĪ± mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis. 61
28740222 2017
47
The Role of Co-chaperones in Synaptic Proteostasis and Neurodegenerative Disease. 61
28579939 2017
48
Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier. 61
27778018 2016
49
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD. 61
27668283 2016
50
Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation. 61
27524508 2016

Variations for Adult Neuronal Ceroid Lipofuscinosis

ClinVar genetic disease variations for Adult Neuronal Ceroid Lipofuscinosis:

6 (show top 50) (show all 265)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTSF NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala) SNV Pathogenic 60676 rs397514732 GRCh37: 11:66331566-66331566
GRCh38: 11:66564095-66564095
2 CTSF NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu) SNV Pathogenic 60677 rs397514733 GRCh37: 11:66331420-66331420
GRCh38: 11:66563949-66563949
3 CTSF NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys) SNV Pathogenic 60678 rs143889283 GRCh37: 11:66333791-66333791
GRCh38: 11:66566320-66566320
4 CTSF NM_003793.4(CTSF):c.954del (p.Ser319fs) Deletion Pathogenic 60679 rs753084727 GRCh37: 11:66333312-66333312
GRCh38: 11:66565841-66565841
5 CTSF NM_003793.4(CTSF):c.213+1G>C SNV Pathogenic 208844 rs797045136 GRCh37: 11:66335744-66335744
GRCh38: 11:66568273-66568273
6 CTSF NM_003793.4(CTSF):c.962A>G (p.Gln321Arg) SNV Pathogenic 60675 rs397514731 GRCh37: 11:66333304-66333304
GRCh38: 11:66565833-66565833
7 CTSF NM_003793.4(CTSF):c.843_844del (p.Ala282fs) Deletion Pathogenic 434869 rs1555058286 GRCh37: 11:66333516-66333517
GRCh38: 11:66566045-66566046
8 CTSF NM_003793.4(CTSF):c.164del (p.Ala55fs) Deletion Pathogenic 1034023 GRCh37: 11:66335794-66335794
GRCh38: 11:66568323-66568323
9 CTSF NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter) SNV Pathogenic 1034024 GRCh37: 11:66334730-66334730
GRCh38: 11:66567259-66567259
10 DNAJC5 NM_025219.3(DNAJC5):c.343_345CTC[1] (p.Leu116del) Microsatellite Pathogenic 30893 rs587776892 GRCh37: 20:62562224-62562226
GRCh38: 20:63930871-63930873
11 DNAJC5 NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg) SNV Pathogenic 30894 rs387907043 GRCh37: 20:62562226-62562226
GRCh38: 20:63930873-63930873
12 CTSF NM_003793.4(CTSF):c.1247T>C (p.Ile416Thr) SNV Pathogenic 807589 rs1565311875 GRCh37: 11:66332103-66332103
GRCh38: 11:66564632-66564632
13 GRN NM_002087.3(GRN):c.80dup (p.Val28fs) Duplication Pathogenic 540277 rs1392550887 GRCh37: 17:42426609-42426610
GRCh38: 17:44349241-44349242
14 GRN NM_002087.3(GRN):c.1414-2A>G SNV Pathogenic 447471 rs1555611412 GRCh37: 17:42429707-42429707
GRCh38: 17:44352339-44352339
15 GRN NM_002087.3(GRN):c.991C>T (p.Gln331Ter) SNV Pathogenic 569790 rs1567887496 GRCh37: 17:42428975-42428975
GRCh38: 17:44351607-44351607
16 GRN NM_002087.4(GRN):c.836-1G>C SNV Pathogenic 98157 rs63751296 GRCh37: 17:42428730-42428730
GRCh38: 17:44351362-44351362
17 GRN NM_002087.4(GRN):c.709-2A>G SNV Pathogenic 98150 rs63750548 GRCh37: 17:42428403-42428403
GRCh38: 17:44351035-44351035
18 DNAJC5 NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup) Duplication Pathogenic 689476 rs1600887859 GRCh37: 20:62562240-62562241
GRCh38: 20:63930887-63930888
19 GRN NM_002087.4(GRN):c.138+1G>A SNV Pathogenic 98126 rs63749844 GRCh37: 17:42426671-42426671
GRCh38: 17:44349303-44349303
20 GRN NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) SNV Pathogenic 16014 rs63751294 GRCh37: 17:42429772-42429772
GRCh38: 17:44352404-44352404
21 GRN NM_002087.3(GRN):c.898C>T (p.Gln300Ter) SNV Pathogenic 447479 rs1555611253 GRCh37: 17:42428793-42428793
GRCh38: 17:44351425-44351425
22 GRN NM_002087.4(GRN):c.383_386del (p.Asp128fs) Deletion Pathogenic 949246 GRCh37: 17:42427628-42427631
GRCh38: 17:44350260-44350263
23 GRN NM_002087.3(GRN):c.102del (p.Gly35fs) Deletion Pathogenic 98125 rs63751073 GRCh37: 17:42426631-42426631
GRCh38: 17:44349263-44349263
24 GRN NM_002087.4(GRN):c.328C>T (p.Arg110Ter) SNV Pathogenic 98134 rs63750411 GRCh37: 17:42427098-42427098
GRCh38: 17:44349730-44349730
25 CLN6 NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) SNV Pathogenic 30599 rs154774633 GRCh37: 15:68506725-68506725
GRCh38: 15:68214387-68214387
26 CLN6 NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) SNV Pathogenic 30600 rs154774634 GRCh37: 15:68504191-68504191
GRCh38: 15:68211853-68211853
27 CLN6 NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) SNV Pathogenic 30601 rs154774635 GRCh37: 15:68510933-68510933
GRCh38: 15:68218595-68218595
28 CLN6 NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) SNV Pathogenic 30602 rs154774636 GRCh37: 15:68521906-68521906
GRCh38: 15:68229568-68229568
29 GRN NM_002087.3(GRN):c.813_816del (p.Thr272fs) Deletion Pathogenic 16020 rs63749877 GRCh37: 17:42428507-42428510
GRCh38: 17:44351139-44351142
30 GRN NM_002087.3(GRN):c.675_676del (p.Ser226fs) Deletion Pathogenic 98246 rs63751085 GRCh37: 17:42428135-42428136
GRCh38: 17:44350767-44350768
31 CLN6 NM_017882.3(CLN6):c.499G>T (p.Glu167Ter) SNV Likely pathogenic 984028 GRCh37: 15:68503644-68503644
GRCh38: 15:68211306-68211306
32 CLN6 NM_017882.3(CLN6):c.427C>T (p.Gln143Ter) SNV Likely pathogenic 984029 GRCh37: 15:68504072-68504072
GRCh38: 15:68211734-68211734
33 CLN6 NM_017882.3(CLN6):c.218G>A (p.Trp73Ter) SNV Likely pathogenic 984030 GRCh37: 15:68506707-68506707
GRCh38: 15:68214369-68214369
34 GRN NM_002087.4(GRN):c.933+1G>A SNV Likely pathogenic 98163 rs63750707 GRCh37: 17:42428829-42428829
GRCh38: 17:44351461-44351461
35 CTSF NM_003793.4(CTSF):c.1046-2A>C SNV Likely pathogenic 265519 rs141915593 GRCh37: 11:66332479-66332479
GRCh38: 11:66565008-66565008
36 GRN NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) SNV Conflicting interpretations of pathogenicity 98178 rs63751100 GRCh37: 17:42429456-42429456
GRCh38: 17:44352088-44352088
37 GRN NM_002087.3(GRN):c.1288C>G (p.Pro430Ala) SNV Uncertain significance 451952 rs200645022 GRCh37: 17:42429491-42429491
GRCh38: 17:44352123-44352123
38 GRN NM_002087.3(GRN):c.1669C>T (p.His557Tyr) SNV Uncertain significance 641757 rs1415695846 GRCh37: 17:42430053-42430053
GRCh38: 17:44352685-44352685
39 GRN NM_002087.3(GRN):c.836-3C>T SNV Uncertain significance 643134 rs771907059 GRCh37: 17:42428728-42428728
GRCh38: 17:44351360-44351360
40 GRN NM_002087.3(GRN):c.442G>A (p.Gly148Arg) SNV Uncertain significance 645598 rs375343686 GRCh37: 17:42427688-42427688
GRCh38: 17:44350320-44350320
41 GRN NM_002087.3(GRN):c.250T>C (p.Cys84Arg) SNV Uncertain significance 645886 rs1598362876 GRCh37: 17:42426905-42426905
GRCh38: 17:44349537-44349537
42 GRN NM_002087.3(GRN):c.229G>A (p.Val77Ile) SNV Uncertain significance 651116 rs148531161 GRCh37: 17:42426884-42426884
GRCh38: 17:44349516-44349516
43 GRN NM_002087.3(GRN):c.8C>G (p.Thr3Ser) SNV Uncertain significance 655044 rs375939802 GRCh37: 17:42426540-42426540
GRCh38: 17:44349172-44349172
44 GRN NM_002087.4(GRN):c.635G>A (p.Arg212Gln) SNV Uncertain significance 98145 rs63750787 GRCh37: 17:42428095-42428095
GRCh38: 17:44350727-44350727
45 GRN NM_002087.3(GRN):c.803C>T (p.Thr268Met) SNV Uncertain significance 589992 rs202006119 GRCh37: 17:42428499-42428499
GRCh38: 17:44351131-44351131
46 GRN NM_002087.3(GRN):c.1736G>A (p.Arg579His) SNV Uncertain significance 589817 rs373138049 GRCh37: 17:42430120-42430120
GRCh38: 17:44352752-44352752
47 GRN NM_002087.3(GRN):c.708+6_708+9del Microsatellite Uncertain significance 586221 rs778599933 GRCh37: 17:42428169-42428172
GRCh38: 17:44350801-44350804
48 GRN NM_002087.3(GRN):c.268G>A (p.Val90Met) SNV Uncertain significance 664301 rs200019356 GRCh37: 17:42427038-42427038
GRCh38: 17:44349670-44349670
49 overlap with 12 genes NC_000017.11:g.(?_44027807)_(44352876_?)dup Duplication Uncertain significance 832076 GRCh37: 17:42105175-42430244
GRCh38:
50 GRN NM_002087.4(GRN):c.170T>G (p.Leu57Arg) SNV Uncertain significance 839749 GRCh37: 17:42426825-42426825
GRCh38: 17:44349457-44349457

Expression for Adult Neuronal Ceroid Lipofuscinosis

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

Pathways for Adult Neuronal Ceroid Lipofuscinosis

Pathways related to Adult Neuronal Ceroid Lipofuscinosis according to KEGG:

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# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141
2 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
1 11.03 TPP1 PSAP PPT1 CTSF

GO Terms for Adult Neuronal Ceroid Lipofuscinosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 TPP1 PSAP PPT1 PDCD6IP GRN CTSF
2 intracellular membrane-bounded organelle GO:0043231 9.65 PSAP PPT1 PDCD6IP DNAJC5 CLN6
3 lysosomal membrane GO:0005765 9.58 PSAP GRN DNAJC5
4 membrane raft GO:0045121 9.54 TPP1 PPT1 CLN6
5 azurophil granule membrane GO:0035577 9.43 PSAP DNAJC5
6 lysosome GO:0005764 9.35 TPP1 PSAP PPT1 GRN CTSF
7 melanosome GO:0042470 9.33 TPP1 PDCD6IP DNAJC5
8 lysosomal lumen GO:0043202 8.92 TPP1 PSAP PPT1 CTSF

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.5 PPT1 GRN DNAJC5
2 neurotransmitter secretion GO:0007269 9.4 PPT1 DNAJC5
3 lysosomal transport GO:0007041 9.37 PSAP GRN
4 protein catabolic process GO:0030163 9.33 TPP1 PPT1 CLN6
5 cellular macromolecule catabolic process GO:0044265 9.26 PPT1 CLN6
6 lysosomal lumen acidification GO:0007042 9.13 PPT1 GRN CLN6
7 lysosome organization GO:0007040 8.92 TPP1 PPT1 GRN CLN6

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

# Name GO ID Score Top Affiliating Genes
1 lysophosphatidic acid binding GO:0035727 9.13 TPP1 PPT1 CLN6
2 sulfatide binding GO:0120146 8.8 TPP1 PPT1 CLN6

Sources for Adult Neuronal Ceroid Lipofuscinosis

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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