MCID: ADL066
MIFTS: 49

Adult Neuronal Ceroid Lipofuscinosis

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 54 60 30 6 74
Kufs Disease 54 60 38
Adult Ncl 54 60
Ancl 54 60
Cln4 Disease, Adult Autosomal Dominant 54
Neuronal Ceroid Lipofuscinosis 4 54
Kuf's Disease 54

Characteristics:

Orphanet epidemiological data:

60
adult neuronal ceroid lipofuscinosis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult; Age of death: adult;

Classifications:



External Ids:

KEGG 38 H02276
MESH via Orphanet 46 C537950
ICD10 via Orphanet 35 E75.4
UMLS via Orphanet 75 C0022797 C2931675
Orphanet 60 ORPHA79262
UMLS 74 C0022797

Summaries for Adult Neuronal Ceroid Lipofuscinosis

NIH Rare Diseases : 54 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, 1 and neuronal ceroid lipofuscinosis, 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. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and retina, and related phenotypes are ataxia and abnormal pyramidal sign

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 all 27)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 1 29.9 CLN6 DNAJC5 PPT1 TPP1
2 neuronal ceroid lipofuscinosis 29.7 ATP5F1E CLN6 DNAJC5 PPT1 PSAP TPP1
3 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 12.3
4 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 12.1
5 cln4 disease 12.1
6 ceroid lipofuscinosis, neuronal, 13 11.4
7 dementia 10.3
8 ceroid lipofuscinosis, neuronal, 6 10.2
9 glioma 10.2
10 multiple sclerosis 10.1
11 leukodystrophy 10.1
12 ceroid lipofuscinosis, neuronal, 9 10.0 CLN6 DNAJC5
13 cerebral atrophy 10.0 CLN6 DNAJC5
14 myoclonic epilepsy of unverricht and lundborg 10.0
15 neuroleptic malignant syndrome 10.0
16 epilepsy 10.0
17 astrocytoma 10.0
18 early myoclonic encephalopathy 10.0
19 ceroid lipofuscinosis, neuronal, 10 10.0 CLN6 DNAJC5
20 ceroid lipofuscinosis, neuronal, 7 9.9 CLN6 DNAJC5
21 ceroid lipofuscinosis, neuronal, 11 9.8 CLN6 DNAJC5 PPT1
22 ceroid lipofuscinosis, neuronal, 3 9.8 CLN6 PPT1 TPP1
23 lysosomal storage disease 9.7 PPT1 TPP1
24 ceroid storage disease 9.6 CLN6 DNAJC5 PPT1 TPP1
25 ceroid lipofuscinosis, neuronal, 2 9.6 CLN6 DNAJC5 PPT1 TPP1
26 lipid storage disease 9.5 CLN6 PPT1 PSAP TPP1
27 neuronal ceroid-lipofuscinoses 9.2 CLN6 DNAJC5 PPT1 PSAP TPP1

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:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 abnormal pyramidal sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0007256
3 generalized myoclonic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002123
4 myoclonus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001336
5 motor deterioration 60 33 hallmark (90%) Very frequent (99-80%) HP:0002333
6 psychotic episodes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000725
7 dementia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000726
8 abnormality of extrapyramidal motor function 60 33 hallmark (90%) Very frequent (99-80%) HP:0002071
9 orofacial dyskinesia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002310
10 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
11 visual loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0000572
12 mental deterioration 60 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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.28 PSAP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.28 PDCD6IP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.28 PPT1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.28 PDCD6IP PPT1 PSAP
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.28 PPT1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.28 PPT1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.28 PPT1

MGI Mouse Phenotypes related to Adult Neuronal Ceroid Lipofuscinosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 CLN6 DNAJC5 PPT1 PSAP TPP1
2 muscle MP:0005369 9.46 DNAJC5 PPT1 PSAP TPP1
3 nervous system MP:0003631 9.43 CLN6 DNAJC5 PDCD6IP PPT1 PSAP TPP1
4 vision/eye MP:0005391 8.92 CLN6 DNAJC5 PPT1 PSAP

Drugs & Therapeutics for Adult Neuronal Ceroid Lipofuscinosis

Drugs for Adult Neuronal Ceroid Lipofuscinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
3 Expectorants Phase 4
4 Free Radical Scavengers Phase 4
5 Antidotes Phase 4
6 Protective Agents Phase 4
7 Anti-Infective Agents Phase 4,Phase 2
8 Respiratory System Agents Phase 4
9 Antioxidants Phase 4
10 N-monoacetylcystine Phase 4
11 Antiviral Agents Phase 4
12
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
13
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
14
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
15
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
16
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
17
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
18
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
19 Prednisolone acetate Phase 2, Phase 3
20 Antineoplastic Agents, Alkylating Phase 2, Phase 3
21 Methylprednisolone Acetate Phase 2, Phase 3
22 Alkylating Agents Phase 2, Phase 3
23 Immunologic Factors Phase 2, Phase 3
24 Immunosuppressive Agents Phase 2, Phase 3
25 Antilymphocyte Serum Phase 2, Phase 3
26 Antirheumatic Agents Phase 2, Phase 3
27
Mycophenolic acid Approved Phase 2 24280-93-1 446541
28
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
29 Antibiotics, Antitubercular Phase 2
30 Antitubercular Agents Phase 2
31 Anti-Bacterial Agents Phase 2

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
2 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
3 A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease Completed NCT01907087 Phase 1, Phase 2
4 Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis Completed NCT01399047 Phase 2 Mycophenolate mofetil;Liquid Placebo
5 Gene Transfer Study of AAV9-CLN3 for Treatment NCL Type 3 Recruiting NCT03770572 Phase 1, Phase 2
6 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01414985 Phase 1, Phase 2
7 Batten CLN6 Gene Therapy Active, not recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
8 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Active, not recruiting NCT02485899 Phase 1, Phase 2
9 A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Enrolling by invitation NCT02678689 Phase 2
10 Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) Completed NCT00337636 Phase 1 Medication to suppress the immune system
11 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
12 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
13 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
14 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
15 Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
16 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
17 Genotype - Phenotype Correlations of LINCL Completed NCT00151268
18 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis Recruiting NCT03307304
19 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
20 Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae Recruiting NCT03285425
21 A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease Recruiting NCT03822650
22 Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease Recruiting NCT03862274
23 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
24 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
25 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
26 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
27 Collection of Cerebrospinal Fluid in Healthy Children Terminated NCT01698229

Search 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 30 CLN6

Anatomical Context for Adult Neuronal Ceroid Lipofuscinosis

MalaCards organs/tissues related to Adult Neuronal Ceroid Lipofuscinosis:

42
Eye, Brain, Retina, Heart

Publications for Adult Neuronal Ceroid Lipofuscinosis

Articles related to Adult Neuronal Ceroid Lipofuscinosis:

(show top 50) (show all 68)
# Title Authors Year
1
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. ( 30561534 )
2018
2
Novel compound heterozygous mutations causing Kufs disease type B. ( 29120254 )
2018
3
Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease. ( 29506599 )
2018
4
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). ( 27412140 )
2016
5
Expression profile of a Caenorhabditis elegans model of adult neuronal ceroid lipofuscinosis reveals down regulation of ubiquitin E3 ligase components. ( 26395859 )
2015
6
Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease. ( 25576872 )
2015
7
Brain imaging in Kufs disease type B: case reports. ( 26141065 )
2015
8
Oligomerization of Cysteine String Protein alpha mutants causing adult neuronal ceroid lipofuscinosis. ( 25064588 )
2014
9
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. ( 24121961 )
2014
10
Clinical, ultrastructural, and molecular studies in a patient with Kufs disease. ( 24277206 )
2014
11
Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease. ( 25274848 )
2014
12
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. ( 23297359 )
2013
13
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. ( 22978711 )
2013
14
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
15
Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature. ( 22568672 )
2012
16
Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form. ( 21819394 )
2011
17
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. ( 22073189 )
2011
18
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. ( 21549341 )
2011
19
Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis. ( 19699676 )
2009
20
Kufs' disease: diagnostic difficulties in the examination of extracerebral biopsies. ( 19813146 )
2009
21
Early-onset dementia with prolonged occipital seizures: an atypical case of Kufs disease. ( 19015486 )
2008
22
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. ( 17261688 )
2007
23
The problematic issue of Kufs disease diagnosis as performed on rectal biopsies: a case report. ( 14967598 )
2004
24
Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. ( 14655761 )
2003
25
Neuroleptic malignant syndrome in Kufs' disease. ( 12588937 )
2003
26
Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama. ( 12790899 )
2003
27
Electroencephalographic findings in Kufs disease. ( 12948804 )
2003
28
Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. ( 12112194 )
2002
29
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. ( 11506414 )
2001
30
Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). ( 11588995 )
2001
31
Autosomal dominant Kufs' disease: a cause of early onset dementia. ( 11489285 )
2001
32
Adult neuronal ceroid lipofuscinosis (Kufs' disease) in two siblings of an Irish family. ( 14606583 )
2000
33
Familial Kufs' disease presenting as a progressive myoclonic epilepsy. ( 10929274 )
2000
34
Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma. Case report. ( 9452242 )
1998
35
Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis. ( 9831759 )
1998
36
In vivo diagnosis of Kufs' disease by extracerebral biopsies. ( 9678520 )
1998
37
Kufs' disease presenting as late-onset epilepsia partialis continua. ( 9781553 )
1998
38
Diagnostic (clinical and morphological) criteria for adult neuronal ceroid-lipofuscinosis (Kufs' disease), Hôpital de la Salpétrière 'AFM Institut de Myologie', Paris, France, 5 December 1996. ( 9223136 )
1997
39
Adult neuronal ceroid-lipofuscinosis--personal observations. ( 9246375 )
1997
40
A family with adult type ceroid lipofuscinosis (Kufs' disease) and heart muscle disease: report of two autopsy cases. ( 8929641 )
1995
41
Adult neuronal ceroid lipofuscinosis presenting with psychiatric symptoms: a case report. ( 8175244 )
1993
42
Pathoarchitectonic pattern of iso- and allocortical lesions in juvenile and adult neuronal ceroid-lipofuscinosis. ( 8411975 )
1993
43
Kufs' disease presenting as progressive dementia with late-onset generalized seizures: a clinicopathological and electrophysiological study. ( 1733761 )
1992
44
A case of childhood Kufs' disease. ( 1654398 )
1991
45
Adult dementia due to intraneuronal accumulation of ceroidlipofuscinosis (Kufs' disease): ultrastructural study of two cases. ( 1854421 )
1991
46
Anesthesia for a patient with Kufs' disease. ( 2240657 )
1990
47
Adult neuronal ceroid-lipofuscinosis. ( 2663281 )
1989
48
Kufs disease: clinical features and forms. ( 3146309 )
1988
49
Morphological diagnosis and misdiagnosis in Batten-Kufs disease. ( 3146332 )
1988
50
Kufs' disease: a critical reappraisal. ( 3284607 )
1988

Variations for Adult Neuronal Ceroid Lipofuscinosis

ClinVar genetic disease variations for Adult Neuronal Ceroid Lipofuscinosis:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN6 NM_017882.2(CLN6): c.200T> C (p.Leu67Pro) single nucleotide variant Pathogenic rs154774633 GRCh37 Chromosome 15, 68506725: 68506725
2 CLN6 NM_017882.2(CLN6): c.200T> C (p.Leu67Pro) single nucleotide variant Pathogenic rs154774633 GRCh38 Chromosome 15, 68214387: 68214387
3 CLN6 NM_017882.2(CLN6): c.308G> A (p.Arg103Gln) single nucleotide variant Uncertain significance rs154774634 GRCh37 Chromosome 15, 68504191: 68504191
4 CLN6 NM_017882.2(CLN6): c.308G> A (p.Arg103Gln) single nucleotide variant Uncertain significance rs154774634 GRCh38 Chromosome 15, 68211853: 68211853
5 CLN6 NM_017882.2(CLN6): c.139C> T (p.Leu47Phe) single nucleotide variant Uncertain significance rs154774635 GRCh37 Chromosome 15, 68510933: 68510933
6 CLN6 NM_017882.2(CLN6): c.139C> T (p.Leu47Phe) single nucleotide variant Uncertain significance rs154774635 GRCh38 Chromosome 15, 68218595: 68218595
7 CLN6 NM_017882.2(CLN6): c.17G> C (p.Arg6Thr) single nucleotide variant Pathogenic rs154774636 GRCh37 Chromosome 15, 68521906: 68521906
8 CLN6 NM_017882.2(CLN6): c.17G> C (p.Arg6Thr) single nucleotide variant Pathogenic rs154774636 GRCh38 Chromosome 15, 68229568: 68229568
9 CLN6 NM_017882.2(CLN6): c.53C> T (p.Ala18Val) single nucleotide variant Conflicting interpretations of pathogenicity rs547125345 GRCh37 Chromosome 15, 68521870: 68521870
10 CLN6 NM_017882.2(CLN6): c.53C> T (p.Ala18Val) single nucleotide variant Conflicting interpretations of pathogenicity rs547125345 GRCh38 Chromosome 15, 68229532: 68229532
11 CLN6 NM_017882.2(CLN6): c.923G> C (p.Ser308Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143578698 GRCh37 Chromosome 15, 68500491: 68500491
12 CLN6 NM_017882.2(CLN6): c.923G> C (p.Ser308Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143578698 GRCh38 Chromosome 15, 68208153: 68208153
13 CLN6 NM_017882.2(CLN6): c.728C> T (p.Ala243Val) single nucleotide variant Uncertain significance rs767164948 GRCh38 Chromosome 15, 68208348: 68208348
14 CLN6 NM_017882.2(CLN6): c.728C> T (p.Ala243Val) single nucleotide variant Uncertain significance rs767164948 GRCh37 Chromosome 15, 68500686: 68500686
15 CLN6 NM_017882.2(CLN6): c.482C> T (p.Thr161Met) single nucleotide variant Uncertain significance rs757734645 GRCh37 Chromosome 15, 68504017: 68504017
16 CLN6 NM_017882.2(CLN6): c.482C> T (p.Thr161Met) single nucleotide variant Uncertain significance rs757734645 GRCh38 Chromosome 15, 68211679: 68211679
17 CLN6 NM_017882.2(CLN6): c.41G> A (p.Gly14Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 68229544: 68229544
18 CLN6 NM_017882.2(CLN6): c.41G> A (p.Gly14Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 68521882: 68521882

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:

38
# 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 10.89 PPT1 PSAP TPP1

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 lysosome GO:0005764 9.33 PPT1 PSAP TPP1
2 synaptic vesicle GO:0008021 9.32 DNAJC5 PPT1
3 azurophil granule membrane GO:0035577 9.26 DNAJC5 PSAP
4 melanosome GO:0042470 9.13 DNAJC5 PDCD6IP TPP1
5 lysosomal lumen GO:0043202 8.8 PPT1 PSAP TPP1

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 9.32 DNAJC5 PPT1
2 lysosomal lumen acidification GO:0007042 9.26 CLN6 PPT1
3 cellular macromolecule catabolic process GO:0044265 9.16 CLN6 PPT1
4 protein catabolic process GO:0030163 9.13 CLN6 PPT1 TPP1
5 lysosome organization GO:0007040 8.8 CLN6 PPT1 TPP1

Sources for Adult Neuronal Ceroid Lipofuscinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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