CLN11
MCID: CRD166
MIFTS: 45

Ceroid Lipofuscinosis, Neuronal, 11 (CLN11)

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 11

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 11:

Name: Ceroid Lipofuscinosis, Neuronal, 11 57 43 72 29 13 6 70
Cln11 57 12 72
Neuronal Ceroid Lipofuscinosis 11 12 15
Cln11 Disease 43 58
Grn-Related Neuronal Ceroid-Lipofuscinosis 43
Lipofuscinosis, Ceroid, Neuronal, Type 11 39

Characteristics:

Orphanet epidemiological data:

58
cln11 disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
rapidly progressive
onset in early twenties
one italian family has been reported (last curated july 2012)

Inheritance:
autosomal recessive


HPO:

31
ceroid lipofuscinosis, neuronal, 11:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110732
OMIM® 57 614706
OMIM Phenotypic Series 57 PS256730
MeSH 44 D009472
ICD10 32 E75.4
ICD10 via Orphanet 33 E75.4
Orphanet 58 ORPHA314629
UMLS 70 C3539123

Summaries for Ceroid Lipofuscinosis, Neuronal, 11

MedlinePlus Genetics : 43 CLN11 disease is a disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms in adolescence or early adulthood. This condition is characterized by recurrent seizures (epilepsy), vision loss, problems with balance and coordination (cerebellar ataxia), and a decline in intellectual function.Seizures in CLN11 disease often involve a loss of consciousness, muscle stiffness (rigidity), and generalized convulsions (tonic-clonic seizures).Vision loss is gradual over time and is due to a condition called retinitis pigmentosa, which is caused by the breakdown of the light-sensitive layer at the back of the eye (retina). People with CLN11 disease can also develop clouding of the lenses of the eyes (cataracts) and rapid, involuntary eye movements (nystagmus).Affected individuals can also develop muscle twitches (myoclonus), walking problems and falling (gait disturbance), and impaired speech (dysarthria). Over time, people with CLN11 disease develop short-term memory loss and loss of executive function, which is the ability to plan and implement problem-solving strategies and actions. They may also become irritable and impulsive. Some affected individuals experience visual hallucinations involving people or animals.CLN11 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). All of these disorders affect the nervous system and typically cause progressive 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, 11, also known as cln11, is related to epilepsy, idiopathic generalized 5 and clonorchiasis, and has symptoms including seizures, ataxia and myoclonic seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 11 is GRN (Granulin Precursor), and among its related pathways/superpathways is Lysosome. Affiliated tissues include eye, retina and brain, and related phenotypes are mental deterioration and eeg abnormality

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has material basis in homozygous mutation in the GRN gene on chromosome 17q.

OMIM® : 57 Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (614706) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Ceroid lipofuscinosis, neuronal, 11: A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 11

Diseases in the Neuronal Ceroid Lipofuscinosis family:

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

Diseases related to Ceroid Lipofuscinosis, Neuronal, 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 epilepsy, idiopathic generalized 5 10.2 KCTD7 CLN8
2 clonorchiasis 10.1 GRN CTSF
3 progressive myoclonus epilepsy 1b 10.1 MFSD8 KCTD7
4 progressive myoclonus epilepsy 1a 10.1 PPT1 KCTD7
5 opisthorchiasis 10.1 GRN CTSF
6 fascioliasis 10.1 GRN CTSF
7 mannosidosis, alpha b, lysosomal 10.0 MFSD8 CLN6
8 central core myopathy 10.0 PPT1 CLN8
9 early myoclonic encephalopathy 10.0 KCTD7 CLN8 CLN6
10 peripheral retinal degeneration 9.9 CLN5 CLN3
11 seizure disorder 9.8 CTSF CLN6 CLN5
12 glycoproteinosis 9.8 CLN6 CLN3
13 gm2 gangliosidosis 9.8 CLN6 CLN3
14 aspartylglucosaminuria 9.7 CLN6 CLN5 CLN3
15 gm1 gangliosidosis 9.7 CLN6 CLN3
16 ceroid lipofuscinosis, neuronal, 6 9.7 MFSD8 CLN8 CLN6 CLN5
17 myoclonic epilepsy of lafora 9.7 CLN6 CLN3
18 progressive myoclonus epilepsy 9.6 KCTD7 CLN6 CLN5 CLN3
19 tay-sachs disease 9.6 CLN6 CLN3
20 dementia 9.5 MFSD8 GRN DNAJC5 ATP13A2
21 progressive myoclonus epilepsy 3 9.5 PPT1 MFSD8 KCTD7 CLN8 CLN6
22 lysosomal storage disease 9.5 PPT1 CLN6 CLN5 CLN3
23 adult neuronal ceroid lipofuscinosis 9.4 PPT1 GRN DNAJC5 CTSF CLN6
24 epilepsy 9.4 KCTD7 CLN8 CLN6 CLN5 CLN3
25 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.4 PPT1 DNAJC5 CLN6 CLN3
26 lipid storage disease 9.3 PPT1 CLN8 CLN6 CLN5 CLN3
27 mucopolysaccharidosis, type iiia 9.2 PPT1 DNAJC5 CLN6 CLN5 CLN3
28 mucopolysaccharidosis-plus syndrome 9.2 PPT1 DNAJC5 CLN6 CLN5 CLN3
29 unverricht-lundborg syndrome 9.1 PPT1 MFSD8 KCTD7 CLN6 CLN5 CLN3
30 mucopolysaccharidosis iii 8.9 PPT1 MFSD8 DNAJC5 CLN6 CLN5 CLN3
31 ceroid lipofuscinosis, neuronal, 9 8.9 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
32 ceroid lipofuscinosis, neuronal, 2 8.8 PPT1 MFSD8 DNAJC5 CLN8 CLN6 CLN5
33 visual epilepsy 8.6 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
34 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 8.6 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
35 neuronal ceroid-lipofuscinoses 8.4 PPT1 MFSD8 GRN DNAJC5 CTSF CLN8
36 ceroid lipofuscinosis, neuronal, 1 8.0 PPT1 MFSD8 KCTD7 DNAJC5 CTSF CLN8
37 ceroid lipofuscinosis, neuronal, 13 8.0 PPT1 MFSD8 KCTD7 DNAJC5 CTSF CLN8
38 ceroid lipofuscinosis, neuronal, 7 8.0 PPT1 MFSD8 KCTD7 DNAJC5 CTSF CLN8
39 ceroid lipofuscinosis, neuronal, 3 8.0 PPT1 MFSD8 KCTD7 DNAJC5 CTSF CLN8
40 neuronal ceroid lipofuscinosis 7.9 PPT1 MFSD8 KCTD7 GRN DNAJC5 CTSF
41 ceroid lipofuscinosis, neuronal, 10 7.9 PPT1 MFSD8 KCTD7 GRN DNAJC5 CTSF
42 spinocerebellar ataxia, autosomal recessive 7 7.9 PPT1 MFSD8 KCTD7 GRN DNAJC5 CTSF

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 11:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 11

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 11

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 11:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 mental deterioration 31 occasional (7.5%) HP:0001268
2 eeg abnormality 31 HP:0002353
3 ataxia 31 HP:0001251
4 visual impairment 31 HP:0000505
5 optic atrophy 31 HP:0000648
6 cerebellar atrophy 31 HP:0001272
7 retinal dystrophy 31 HP:0000556
8 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
ataxia
cerebellar atrophy
myoclonic seizures
eeg abnormalities
more
Laboratory Abnormalities:
'fingerprint' profiles ultrastructurally

Head And Neck Eyes:
optic atrophy
retinal dystrophy
visual impairment, progressive

Clinical features from OMIM®:

614706 (Updated 05-Apr-2021)

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 11:


seizures; ataxia; myoclonic seizures

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 11:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 ATP13A2 CLN3 CLN6 CLN8 CTSF DNAJC5
2 nervous system MP:0003631 9.85 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSF
3 pigmentation MP:0001186 9.35 ATP13A2 CLN8 GRN MFSD8 PPT1
4 vision/eye MP:0005391 9.23 CLN3 CLN5 CLN6 CLN8 DNAJC5 GRN

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 11

Search Clinical Trials , NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 11

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 11

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 11:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis, Neuronal, 11 29 GRN

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 11

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 11:

40
Eye, Retina, Brain

Publications for Ceroid Lipofuscinosis, Neuronal, 11

Articles related to Ceroid Lipofuscinosis, Neuronal, 11:

(show all 35)
# Title Authors PMID Year
1
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 57 6
22608501 2012
2
Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging. 6 57
20522652 2010
3
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. 6
30279455 2020
4
Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy. 6
28264768 2017
5
Analyses MAPT, GRN, and C9orf72 mutations in Chinese patients with frontotemporal dementia. 6
27311648 2016
6
GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil. 6
27082848 2016
7
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
8
Asymmetric pathology in primary progressive aphasia with progranulin mutations and TDP inclusions. 6
26791154 2016
9
Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. 6
23338682 2013
10
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. 6
22366795 2012
11
Serum progranulin levels in patients with frontotemporal lobar degeneration and Alzheimer's disease: detection of GRN mutations in a Spanish cohort. 6
22647257 2012
12
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
13
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. 6
21482928 2011
14
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. 6
20142524 2010
15
The heritability and genetics of frontotemporal lobar degeneration. 6
19884572 2009
16
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series. 6
18392865 2008
17
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. 6
18183624 2008
18
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. 6
18234697 2008
19
Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations. 6
17698705 2007
20
A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. 6
17439980 2007
21
Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. 6
17202431 2007
22
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. 6
17334266 2007
23
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 6
16950801 2006
24
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 6
16862116 2006
25
Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy. 61
33242182 2021
26
Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN mutations. 61
33028409 2020
27
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms. 61
31855245 2020
28
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. 61
31029456 2019
29
Comparative transcriptomics reveals mechanisms underlying cln3-deficiency phenotypes in Dictyostelium. 61
30771446 2019
30
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin. 61
30380624 2018
31
Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis. 61
29378861 2018
32
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis. 61
27881166 2016
33
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). 61
26026925 2015
34
Progressive retinal degeneration and accumulation of autofluorescent lipopigments in Progranulin deficient mice. 61
25234724 2014
35
Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation. 61
24779634 2014

Variations for Ceroid Lipofuscinosis, Neuronal, 11

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 11:

6 (show top 50) (show all 74)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRN NM_002087.3(GRN):c.80dup (p.Val28fs) Duplication Pathogenic 540277 rs1392550887 GRCh37: 17:42426609-42426610
GRCh38: 17:44349241-44349242
2 GRN NM_002087.3(GRN):c.1414-2A>G SNV Pathogenic 447471 rs1555611412 GRCh37: 17:42429707-42429707
GRCh38: 17:44352339-44352339
3 GRN NM_002087.3(GRN):c.991C>T (p.Gln331Ter) SNV Pathogenic 569790 rs1567887496 GRCh37: 17:42428975-42428975
GRCh38: 17:44351607-44351607
4 GRN NM_002087.4(GRN):c.836-1G>C SNV Pathogenic 98157 rs63751296 GRCh37: 17:42428730-42428730
GRCh38: 17:44351362-44351362
5 GRN NM_002087.4(GRN):c.138+1G>A SNV Pathogenic 98126 rs63749844 GRCh37: 17:42426671-42426671
GRCh38: 17:44349303-44349303
6 GRN NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) SNV Pathogenic 16014 rs63751294 GRCh37: 17:42429772-42429772
GRCh38: 17:44352404-44352404
7 GRN NM_002087.3(GRN):c.102del (p.Gly35fs) Deletion Pathogenic 98125 rs63751073 GRCh37: 17:42426631-42426631
GRCh38: 17:44349263-44349263
8 GRN NM_002087.4(GRN):c.383_386del (p.Asp128fs) Deletion Pathogenic 949246 GRCh37: 17:42427628-42427631
GRCh38: 17:44350260-44350263
9 GRN NM_002087.4(GRN):c.709-2A>G SNV Pathogenic 98150 rs63750548 GRCh37: 17:42428403-42428403
GRCh38: 17:44351035-44351035
10 GRN NM_002087.4(GRN):c.328C>T (p.Arg110Ter) SNV Pathogenic 98134 rs63750411 GRCh37: 17:42427098-42427098
GRCh38: 17:44349730-44349730
11 GRN NM_002087.3(GRN):c.898C>T (p.Gln300Ter) SNV Pathogenic 447479 rs1555611253 GRCh37: 17:42428793-42428793
GRCh38: 17:44351425-44351425
12 GRN NM_002087.3(GRN):c.813_816del (p.Thr272fs) Deletion Pathogenic 16020 rs63749877 GRCh37: 17:42428507-42428510
GRCh38: 17:44351139-44351142
13 GRN NM_002087.3(GRN):c.675_676del (p.Ser226fs) Deletion Pathogenic 98246 rs63751085 GRCh37: 17:42428135-42428136
GRCh38: 17:44350767-44350768
14 GRN NM_002087.4(GRN):c.933+1G>A SNV Likely pathogenic 98163 rs63750707 GRCh37: 17:42428829-42428829
GRCh38: 17:44351461-44351461
15 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
16 GRN NM_002087.3(GRN):c.1669C>T (p.His557Tyr) SNV Uncertain significance 641757 rs1415695846 GRCh37: 17:42430053-42430053
GRCh38: 17:44352685-44352685
17 GRN NM_002087.3(GRN):c.442G>A (p.Gly148Arg) SNV Uncertain significance 645598 rs375343686 GRCh37: 17:42427688-42427688
GRCh38: 17:44350320-44350320
18 GRN NM_002087.3(GRN):c.250T>C (p.Cys84Arg) SNV Uncertain significance 645886 rs1598362876 GRCh37: 17:42426905-42426905
GRCh38: 17:44349537-44349537
19 GRN NM_002087.3(GRN):c.229G>A (p.Val77Ile) SNV Uncertain significance 651116 rs148531161 GRCh37: 17:42426884-42426884
GRCh38: 17:44349516-44349516
20 GRN NM_002087.3(GRN):c.803C>T (p.Thr268Met) SNV Uncertain significance 589992 rs202006119 GRCh37: 17:42428499-42428499
GRCh38: 17:44351131-44351131
21 GRN NM_002087.3(GRN):c.1736G>A (p.Arg579His) SNV Uncertain significance 589817 rs373138049 GRCh37: 17:42430120-42430120
GRCh38: 17:44352752-44352752
22 GRN NM_002087.3(GRN):c.268G>A (p.Val90Met) SNV Uncertain significance 664301 rs200019356 GRCh37: 17:42427038-42427038
GRCh38: 17:44349670-44349670
23 GRN NM_002087.3(GRN):c.808C>T (p.Leu270Phe) SNV Uncertain significance 571280 rs1567887059 GRCh37: 17:42428504-42428504
GRCh38: 17:44351136-44351136
24 GRN NM_002087.3(GRN):c.139G>A (p.Asp47Asn) SNV Uncertain significance 569364 rs1239690384 GRCh37: 17:42426794-42426794
GRCh38: 17:44349426-44349426
25 GRN NM_002087.3(GRN):c.1438C>T (p.His480Tyr) SNV Uncertain significance 522905 rs770058074 GRCh37: 17:42429733-42429733
GRCh38: 17:44352365-44352365
26 GRN NM_002087.4(GRN):c.7A>G (p.Thr3Ala) SNV Uncertain significance 931001 GRCh37: 17:42426539-42426539
GRCh38: 17:44349171-44349171
27 overlap with 12 genes NC_000017.11:g.(?_44027807)_(44352876_?)dup Duplication Uncertain significance 832076 GRCh37: 17:42105175-42430244
GRCh38:
28 GRN NM_002087.4(GRN):c.170T>G (p.Leu57Arg) SNV Uncertain significance 839749 GRCh37: 17:42426825-42426825
GRCh38: 17:44349457-44349457
29 GRN NM_002087.4(GRN):c.1648G>A (p.Val550Ile) SNV Uncertain significance 98191 rs63750754 GRCh37: 17:42430032-42430032
GRCh38: 17:44352664-44352664
30 GRN NM_002087.4(GRN):c.1179+4_1179+8del Deletion Uncertain significance 863089 GRCh37: 17:42429167-42429171
GRCh38: 17:44351799-44351803
31 GRN NM_002087.4(GRN):c.1226C>T (p.Thr409Met) SNV Uncertain significance 864484 GRCh37: 17:42429429-42429429
GRCh38: 17:44352061-44352061
32 GRN NM_002087.4(GRN):c.662G>C (p.Cys221Ser) SNV Uncertain significance 935555 GRCh37: 17:42428122-42428122
GRCh38: 17:44350754-44350754
33 GRN NM_002087.4(GRN):c.1193C>T (p.Ser398Leu) SNV Uncertain significance 935719 GRCh37: 17:42429396-42429396
GRCh38: 17:44352028-44352028
34 GRN NM_002087.3(GRN):c.415T>C (p.Cys139Arg) SNV Uncertain significance 589965 rs763841075 GRCh37: 17:42427661-42427661
GRCh38: 17:44350293-44350293
35 GRN NM_002087.4(GRN):c.58T>C (p.Cys20Arg) SNV Uncertain significance 1019148 GRCh37: 17:42426590-42426590
GRCh38: 17:44349222-44349222
36 GRN NM_002087.4(GRN):c.350G>A (p.Gly117Asp) SNV Uncertain significance 1020306 GRCh37: 17:42427596-42427596
GRCh38: 17:44350228-44350228
37 GRN NM_002087.4(GRN):c.1663C>T (p.Arg555Trp) SNV Uncertain significance 1024745 GRCh37: 17:42430047-42430047
GRCh38: 17:44352679-44352679
38 GRN NM_002087.3(GRN):c.139-3T>C SNV Uncertain significance 588760 rs371119011 GRCh37: 17:42426791-42426791
GRCh38: 17:44349423-44349423
39 GRN NM_002087.4(GRN):c.1510C>G (p.Pro504Ala) SNV Uncertain significance 951030 GRCh37: 17:42429805-42429805
GRCh38: 17:44352437-44352437
40 GRN NM_002087.4(GRN):c.1357G>A (p.Gly453Arg) SNV Uncertain significance 888742 GRCh37: 17:42429560-42429560
GRCh38: 17:44352192-44352192
41 GRN NM_002087.3(GRN):c.1555G>A (p.Val519Met) SNV Uncertain significance 588635 rs141111290 GRCh37: 17:42429850-42429850
GRCh38: 17:44352482-44352482
42 GRN NM_002087.4(GRN):c.1721G>A (p.Arg574His) SNV Uncertain significance 1009582 GRCh37: 17:42430105-42430105
GRCh38: 17:44352737-44352737
43 GRN NM_002087.4(GRN):c.635G>A (p.Arg212Gln) SNV Uncertain significance 98145 rs63750787 GRCh37: 17:42428095-42428095
GRCh38: 17:44350727-44350727
44 GRN NM_002087.4(GRN):c.641G>A (p.Arg214Gln) SNV Uncertain significance 944816 GRCh37: 17:42428101-42428101
GRCh38: 17:44350733-44350733
45 GRN NM_002087.3(GRN):c.53C>T (p.Thr18Met) SNV Uncertain significance 451234 rs199572314 GRCh37: 17:42426585-42426585
GRCh38: 17:44349217-44349217
46 GRN NM_002087.3(GRN):c.1288C>G (p.Pro430Ala) SNV Uncertain significance 451952 rs200645022 GRCh37: 17:42429491-42429491
GRCh38: 17:44352123-44352123
47 GRN NM_002087.4(GRN):c.99C>A (p.Asp33Glu) SNV Uncertain significance 890387 GRCh37: 17:42426631-42426631
GRCh38: 17:44349263-44349263
48 GRN NM_002087.3(GRN):c.836-3C>T SNV Uncertain significance 643134 rs771907059 GRCh37: 17:42428728-42428728
GRCh38: 17:44351360-44351360
49 GRN NM_002087.4(GRN):c.970G>A (p.Ala324Thr) SNV Uncertain significance 98165 rs63750541 GRCh37: 17:42428954-42428954
GRCh38: 17:44351586-44351586
50 GRN NM_002087.3(GRN):c.8C>G (p.Thr3Ser) SNV Uncertain significance 655044 rs375939802 GRCh37: 17:42426540-42426540
GRCh38: 17:44349172-44349172

Expression for Ceroid Lipofuscinosis, Neuronal, 11

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 11.

Pathways for Ceroid Lipofuscinosis, Neuronal, 11

Pathways related to Ceroid Lipofuscinosis, Neuronal, 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.13 PPT1 MFSD8 CTSF CLN5 CLN3

GO Terms for Ceroid Lipofuscinosis, Neuronal, 11

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.07 PPT1 MFSD8 KCTD7 GRN DNAJC5 CLN8
2 endoplasmic reticulum GO:0005783 9.85 GRN CLN8 CLN6 CLN5 CLN3
3 Golgi apparatus GO:0005794 9.83 PPT1 GRN DNAJC5 CLN5 CLN3
4 membrane raft GO:0045121 9.58 PPT1 CLN6 CLN3
5 synaptic vesicle GO:0008021 9.5 PPT1 DNAJC5 CLN3
6 late endosome GO:0005770 9.43 GRN CLN3 ATP13A2
7 lysosomal membrane GO:0005765 9.43 MFSD8 GRN DNAJC5 CLN5 CLN3 ATP13A2
8 lysosomal lumen GO:0043202 9.33 PPT1 CTSF ATP13A2
9 lysosome GO:0005764 9.17 PPT1 MFSD8 GRN CTSF CLN5 CLN3

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 11 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.7 PPT1 CLN8 CLN6
2 negative regulation of neuron apoptotic process GO:0043524 9.67 PPT1 GRN DNAJC5 CLN3
3 neuron development GO:0048666 9.58 PPT1 MFSD8
4 lipid homeostasis GO:0055088 9.58 CLN8 ATP13A2
5 neurotransmitter secretion GO:0007269 9.57 PPT1 DNAJC5
6 adult locomotory behavior GO:0008344 9.56 PPT1 CLN8
7 protein catabolic process GO:0030163 9.56 PPT1 CLN8 CLN6 CLN5
8 neuromuscular process controlling balance GO:0050885 9.55 CLN8 CLN3
9 autophagosome maturation GO:0097352 9.54 MFSD8 CLN3
10 negative regulation of proteolysis GO:0045861 9.51 CLN8 CLN3
11 associative learning GO:0008306 9.5 PPT1 CLN8 CLN3
12 lysosomal transport GO:0007041 9.49 GRN ATP13A2
13 cellular protein catabolic process GO:0044257 9.48 PPT1 CLN8
14 autophagosome-lysosome fusion GO:0061909 9.46 CLN3 ATP13A2
15 positive regulation of pinocytosis GO:0048549 9.43 PPT1 CLN3
16 regulation of lysosomal protein catabolic process GO:1905165 9.4 MFSD8 ATP13A2
17 lysosomal lumen acidification GO:0007042 9.35 PPT1 GRN CLN6 CLN5 CLN3
18 cellular macromolecule catabolic process GO:0044265 9.33 PPT1 CLN8 CLN6
19 lysosome organization GO:0007040 9.17 PPT1 MFSD8 GRN CLN8 CLN6 CLN5

Molecular functions related to Ceroid Lipofuscinosis, Neuronal, 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysophosphatidic acid binding GO:0035727 8.96 PPT1 CLN6
2 sulfatide binding GO:0120146 8.8 PPT1 CLN6 CLN3

Sources for Ceroid Lipofuscinosis, Neuronal, 11

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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