ANCL
MCID: ADL066
MIFTS: 44

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 53 59 29 6 73
Kufs Disease 53 59
Adult Ncl 53 59
Ancl 53 59
Cln4 Disease, Adult Autosomal Dominant 53
Neuronal Ceroid Lipofuscinosis 4 53
Kuf's Disease 53

Characteristics:

Orphanet epidemiological data:

59
adult neuronal ceroid lipofuscinosis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult; Age of death: adult;

Classifications:



External Ids:

Orphanet 59 ORPHA79262
UMLS via Orphanet 74 C0022797 C2931675
ICD10 via Orphanet 34 E75.4
MESH via Orphanet 45 C537950
UMLS 73 C0022797

Summaries for Adult Neuronal Ceroid Lipofuscinosis

NIH Rare Diseases : 53 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 neuronal ceroid lipofuscinosis and ceroid lipofuscinosis, neuronal, 4b, autosomal dominant, 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 is Lysosome. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and brain, and related phenotypes are ataxia and optic atrophy

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 22)
# Related Disease Score Top Affiliating Genes
1 neuronal ceroid lipofuscinosis 30.2 ATP5F1E CLN6 DNAJC5 PPT1 PSAP TPP1
2 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 12.1
3 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 12.0
4 cln4 disease 12.0
5 ceroid lipofuscinosis, neuronal, 13 11.1
6 dementia 10.3
7 glioma 10.2
8 ceroid lipofuscinosis, neuronal, 9 10.0 CLN6 DNAJC5
9 ceroid lipofuscinosis, neuronal, 10 10.0 CLN6 DNAJC5
10 myoclonic epilepsy of unverricht and lundborg 10.0
11 neuroleptic malignant syndrome 10.0
12 epilepsy 10.0
13 astrocytoma 10.0
14 ceroid lipofuscinosis, neuronal, 7 9.9 CLN6 DNAJC5
15 ceroid lipofuscinosis, neuronal, 11 9.9 CLN6 DNAJC5 PPT1
16 ceroid lipofuscinosis, neuronal, 3 9.9 CLN6 PPT1 TPP1
17 lysosomal storage disease 9.8 PPT1 TPP1
18 ceroid lipofuscinosis, neuronal, 1 9.7 CLN6 DNAJC5 PPT1 TPP1
19 ceroid storage disease 9.7 CLN6 DNAJC5 PPT1 TPP1
20 ceroid lipofuscinosis, neuronal, 2 9.7 CLN6 DNAJC5 PPT1 TPP1
21 lipid storage disease 9.6 CLN6 PPT1 PSAP TPP1
22 neuronal ceroid-lipofuscinoses 9.4 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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
3 generalized myoclonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002123
4 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
5 motor deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002333
6 psychotic episodes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000725
7 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
8 dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000726
9 abnormality of extrapyramidal motor function 59 32 hallmark (90%) Very frequent (99-80%) HP:0002071
10 orofacial dyskinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002310
11 abnormal pyramidal signs 59 Very frequent (99-80%)
12 mental deterioration 59 Very frequent (99-80%)
13 abnormal pyramidal sign 32 hallmark (90%) HP:0007256

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
# 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:

46
# 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 Antidotes Phase 4
4 Expectorants Phase 4
5 Antiviral Agents Phase 4
6 Protective Agents Phase 4
7 Respiratory System Agents Phase 4
8 Free Radical Scavengers Phase 4
9 N-monoacetylcystine Phase 4
10 Anti-Infective Agents Phase 4,Phase 2
11 Antioxidants Phase 4
12
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
13
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
14
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
15
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
16
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
17
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
18
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
19 Prednisolone acetate Phase 2, Phase 3
20 Immunosuppressive Agents 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 Antineoplastic Agents, Alkylating Phase 2, Phase 3
25 Antirheumatic Agents Phase 2, Phase 3
26 Antilymphocyte Serum 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 Antitubercular Agents Phase 2
30 Antibiotics, Antitubercular Phase 2
31 Anti-Bacterial Agents Phase 2

Interventional clinical trials:

(show all 25)
# 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 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
22 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
23 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
24 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
25 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 29 CLN6

Anatomical Context for Adult Neuronal Ceroid Lipofuscinosis

MalaCards organs/tissues related to Adult Neuronal Ceroid Lipofuscinosis:

41
Eye, Retina, Brain, Heart

Publications for Adult Neuronal Ceroid Lipofuscinosis

Articles related to Adult Neuronal Ceroid Lipofuscinosis:

(show all 48)
# Title Authors Year
1
Novel compound heterozygous mutations causing Kufs disease type B. ( 29120254 )
2018
2
Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease. ( 29506599 )
2018
3
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). ( 27412140 )
2016
4
Expression profile of a Caenorhabditis elegans model of adult neuronal ceroid lipofuscinosis reveals down regulation of ubiquitin E3 ligase components. ( 26395859 )
2015
5
Oligomerization of Cysteine String Protein alpha mutants causing adult neuronal ceroid lipofuscinosis. ( 25064588 )
2014
6
Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease. ( 25274848 )
2014
7
Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form. ( 21819394 )
2011
8
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. ( 22073189 )
2011
9
Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis. ( 19699676 )
2009
10
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. ( 17261688 )
2007
11
Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. ( 14655761 )
2003
12
Neuroleptic malignant syndrome in Kufs' disease. ( 12588937 )
2003
13
Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. ( 12112194 )
2002
14
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. ( 11506414 )
2001
15
Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). ( 11588995 )
2001
16
Adult neuronal ceroid lipofuscinosis (Kufs' disease) in two siblings of an Irish family. ( 14606583 )
2000
17
Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis. ( 9831759 )
1998
18
Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma. Case report. ( 9452242 )
1998
19
In vivo diagnosis of Kufs' disease by extracerebral biopsies. ( 9678520 )
1998
20
Kufs' disease presenting as late-onset epilepsia partialis continua. ( 9781553 )
1998
21
Diagnostic (clinical and morphological) criteria for adult neuronal ceroid-lipofuscinosis (Kufs' disease), HA'pital de la SalpActriA"re 'AFM Institut de Myologie', Paris, France, 5 December 1996. ( 9223136 )
1997
22
Adult neuronal ceroid-lipofuscinosis--personal observations. ( 9246375 )
1997
23
A family with adult type ceroid lipofuscinosis (Kufs' disease) and heart muscle disease: report of two autopsy cases. ( 8929641 )
1995
24
Adult neuronal ceroid lipofuscinosis presenting with psychiatric symptoms: a case report. ( 8175244 )
1993
25
Pathoarchitectonic pattern of iso- and allocortical lesions in juvenile and adult neuronal ceroid-lipofuscinosis. ( 8411975 )
1993
26
Kufs' disease presenting as progressive dementia with late-onset generalized seizures: a clinicopathological and electrophysiological study. ( 1733761 )
1992
27
A case of childhood Kufs' disease. ( 1654398 )
1991
28
Adult dementia due to intraneuronal accumulation of ceroidlipofuscinosis (Kufs' disease): ultrastructural study of two cases. ( 1854421 )
1991
29
Anesthesia for a patient with Kufs' disease. ( 2240657 )
1990
30
Adult neuronal ceroid-lipofuscinosis. ( 2663281 )
1989
31
Kufs disease: clinical features and forms. ( 3146309 )
1988
32
Morphological diagnosis and misdiagnosis in Batten-Kufs disease. ( 3146332 )
1988
33
A case of adult neuronal ceroid-lipofuscinosis with the appearance of membranous cytoplasmic bodies localized in the spinal anterior horn. ( 3033977 )
1987
34
Ultrastructure of brain and retina in Kufs' disease (adult type-ceroid-lipofuscinosis). ( 2827925 )
1987
35
An autopsy case of adult neuronal ceroid lipofuscinosis. ( 3599568 )
1986
36
A case of Kufs disease with abnormal pallidonigral iron deposit. ( 4030306 )
1985
37
Disease-specific electrophysiological findings in adult ceroid-lipofuscinosis (Kufs disease). ( 4042822 )
1985
38
Autofluorescence emission spectra of neuronal lipopigment in a case of adult-onset ceroidosis (Kufs' disease). ( 6868957 )
1983
39
Morphologic studies on adult neuronal-ceroid lipofuscinosis (NCL). ( 7168921 )
1982
40
Adult neuronal ceroid lipofuscinosis (Kufs' disease). A sporadic case. ( 7302734 )
1981
41
A golgi and ultrastructural study of a dominant form of Kufs' disease. ( 6153706 )
1980
42
Adult ceroid-lipofuscinosis (Kufs' disease) in two brothers. Retinal and visceral storage in one; diagnostic muscle biopsy in the other. ( 760366 )
1979
43
Pigment variant of neuronal ceroid-lipofuscinosis (Kufs' disease). ( 189886 )
1977
44
A dominant form of adult neuronal ceroidlipofuscinosis (Kufs' disease) with an associated occipital astrocytoma: early diagnosis by cortical biopsy. ( 932739 )
1976
45
Late life neuronal lipidosis (Kufs disease). ( 5031907 )
1972
46
Generalized lipofuscinosis (generalized Kufs' disease). ( 5079544 )
1972
47
Abnormal fatty acid pattern in brain gangliosides in a case of Kufs' disease. ( 5575794 )
1971
48
Electron microscopy of storage cytosomes in Kufs' disease. ( 5478271 )
1970

Variations for Adult Neuronal Ceroid Lipofuscinosis

ClinVar genetic disease variations for Adult Neuronal Ceroid Lipofuscinosis:

6 (show all 12)
# 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

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 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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