CLN7
MCID: CRD179
MIFTS: 44

Ceroid Lipofuscinosis, Neuronal, 7 (CLN7)

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 7

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 7:

Name: Ceroid Lipofuscinosis, Neuronal, 7 57 74 13 72
Cln7 57 12 53 25 74
Neuronal Ceroid Lipofuscinosis 7 12 53 15
Cln7 Disease 53 25 59
Ceroid Lipofuscinosis Neuronal 7 29 6
Cln7 Disease, Late Infantile 53 25
Mfsd8-Related Neuronal Ceroid Lipofuscinosis 25
Lipofuscinosis, Ceroid, Neuronal, Type 7 40
Turkish Variant Late Infantile Ncl 74

Characteristics:

Orphanet epidemiological data:

59
cln7 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
rapidly progressive disorder
onset in childhood (ages 1.5 to 7 years)
some patients show normal development until onset of disorder
patients often become wheelchair-bound
intracellular accumulation of material can occur in neuronal and nonneuronal cells
intracellular accumulation of material may not always be apparent


HPO:

32
ceroid lipofuscinosis, neuronal, 7:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset rapidly progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0110722
MeSH 44 D009472
ICD10 33 E75.4
ICD10 via Orphanet 34 E75.4
UMLS via Orphanet 73 C1838571
Orphanet 59 ORPHA228366
MedGen 42 C1838571
UMLS 72 C1838571

Summaries for Ceroid Lipofuscinosis, Neuronal, 7

Genetics Home Reference : 25 CLN7 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 7. The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression). Affected children also develop muscle twitches (myoclonus), difficulty coordinating movements (ataxia), speech impairment, and vision loss. Mental functioning and motor skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens. CLN7 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 7, also known as cln7, is related to ceroid lipofuscinosis, neuronal, 3 and ceroid lipofuscinosis, neuronal, 1, and has symptoms including ataxia and myoclonic seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 7 is MFSD8 (Major Facilitator Superfamily Domain Containing 8), and among its related pathways/superpathways is Lysosome. Affiliated tissues include eye, and related phenotypes are ataxia and eeg abnormality

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has material basis in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.

NIH Rare Diseases : 53 Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.

OMIM : 57 The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (610951)

UniProtKB/Swiss-Prot : 74 Ceroid lipofuscinosis, neuronal, 7: A form of neuronal ceroid lipofuscinosis with onset in early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 7

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, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 3 29.6 CLN6 CLN5
2 ceroid lipofuscinosis, neuronal, 1 29.3 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
3 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 28.7 MFSD8 CLN8 CLN6 CLN5
4 neuronal ceroid-lipofuscinoses 28.2 MFSD8 DNAJC5 CLN8 CLN6 CLN5
5 ceroid lipofuscinosis, neuronal, 10 28.2 DNAJC5 CLN8 CLN6 CLN5
6 neuronal ceroid lipofuscinosis 27.7 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
7 ceroid lipofuscinosis, neuronal, 5 10.4
8 ataxia and polyneuropathy, adult-onset 10.3
9 yemenite deaf-blind hypopigmentation syndrome 10.3
10 ceroid lipofuscinosis, neuronal, 6 10.3
11 ceroid lipofuscinosis, neuronal, 8 10.2
12 rett syndrome 10.1
13 lysosomal storage disease 10.1
14 retinal degeneration 10.1
15 microcephaly 10.1
16 myoclonus 10.1
17 tremor 10.1
18 visual cortex disease 10.0 MFSD8 CLN8
19 visual pathway disease 10.0 MFSD8 CLN8
20 progressive myoclonus epilepsy 9.7 KCTD7 CLN6
21 visual epilepsy 9.6 MFSD8 CLN8
22 cerebral atrophy 9.6 DNAJC5 CLN6
23 adult neuronal ceroid lipofuscinosis 9.6 DNAJC5 CLN6
24 lipid storage disease 9.4 CLN8 CLN6 CLN5
25 ceroid lipofuscinosis, neuronal, 9 8.7 DNAJC5 CLN8 CLN6 CLN5
26 ceroid lipofuscinosis, neuronal, 13 8.7 KCTD7 DNAJC5 CLN8 CLN5
27 ceroid storage disease 8.7 DNAJC5 CLN8 CLN6 CLN5
28 ceroid lipofuscinosis, neuronal, 11 7.9 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
29 ceroid lipofuscinosis, neuronal, 2 7.9 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 7:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 7

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 7

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 7:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 eeg abnormality 32 HP:0002353
3 sleep disturbance 32 HP:0002360
4 global developmental delay 32 HP:0001263
5 delayed speech and language development 32 HP:0000750
6 optic atrophy 32 HP:0000648
7 blindness 32 HP:0000618
8 retinopathy 32 HP:0000488
9 generalized myoclonic seizures 32 HP:0002123
10 visual loss 32 HP:0000572
11 neurodegeneration 32 HP:0002180
12 mental deterioration 32 HP:0001268
13 cerebellar atrophy 32 HP:0001272
14 cerebral atrophy 32 HP:0002059
15 pigmentary retinopathy 32 HP:0000580

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
neurodegeneration
cerebellar atrophy
cerebral atrophy
myoclonic seizures
more
Head And Neck Eyes:
optic atrophy
blindness
retinopathy
loss of vision, progressive

Clinical features from OMIM:

610951

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 7:


ataxia, myoclonic seizures

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 CLN5 CLN6 CLN8 DNAJC5 MFSD8
2 vision/eye MP:0005391 9.02 CLN5 CLN6 CLN8 DNAJC5 MFSD8

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 7

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease Recruiting NCT03822650

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 7

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 7

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 7:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 7 29 MFSD8

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 7

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 7:

41
Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 7

Articles related to Ceroid Lipofuscinosis, Neuronal, 7:

(show all 50)
# Title Authors PMID Year
1
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 38 8 71
19201763 2009
2
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 38 8 71
19177532 2009
3
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 38 8 71
18850119 2009
4
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 8 71
19277732 2009
5
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 8 71
17564970 2007
6
Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. 8 71
15074367 2004
7
Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. 38 8
15996215 2005
8
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 38 8
15024724 2004
9
A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7. 38 8
10191125 1999
10
Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. 8
27211611 2016
11
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. 71
25227500 2015
12
Neuronal ceroid lipofuscinoses. 71
19084560 2009
13
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 8
15965709 2005
14
Neuronal Ceroid-Lipofuscinoses 71
20301601 2001
15
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. 38
31029456 2019
16
A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival. 38
30301600 2019
17
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis. 38
31105743 2019
18
Discovery of a CLN7 model of Batten disease in non-human primates. 38
30048804 2018
19
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin. 38
30380624 2018
20
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation. 38
29514215 2018
21
in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels. 38
28365214 2017
22
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. 38
28586915 2017
23
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis. 38
27881166 2016
24
Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7. 38
27654426 2016
25
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? 38
26762174 2016
26
Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7. 38
26681805 2016
27
Cell biology of the NCL proteins: What they do and don't do. 38
25962910 2015
28
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). 38
26026925 2015
29
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. 38
25976102 2015
30
Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. 38
25439737 2015
31
Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease. 38
24423645 2014
32
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. 38
25333361 2014
33
CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. 38
23735787 2013
34
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 38
23374165 2013
35
Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7. 38
22668694 2012
36
Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation. 38
22964447 2012
37
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 38
22532218 2012
38
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 38
21990111 2012
39
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. 38
21235444 2011
40
Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. 38
20680390 2011
41
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. 38
20826447 2010
42
Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif. 38
20406422 2010
43
Renal salt wasting and chronic dehydration in claudin-7-deficient mice. 38
19759267 2010
44
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. 38
19431184 2009
45
Analysis of NCL Proteins from an Evolutionary Standpoint. 38
19440452 2008
46
Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies. 38
23489355 2007
47
Decreased T2 signal in the thalami may be a sign of lysosomal storage disease. 38
17334752 2007
48
The intracellular location and function of proteins of neuronal ceroid lipofuscinoses. 38
14997940 2004
49
Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. 38
11589000 2001
50
Neuronal ceroid lipofuscinoses: classification and diagnosis. 38
11332767 2001

Variations for Ceroid Lipofuscinosis, Neuronal, 7

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 7:

6 (show top 50) (show all 97)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MFSD8 NM_152778.3(MFSD8): c.416G> A (p.Arg139His) single nucleotide variant Pathogenic rs749704755 4:128864930-128864930 4:127943775-127943775
2 MFSD8 NM_152778.3(MFSD8): c.1036del (p.Val346fs) deletion Pathogenic rs1439582451 4:128843081-128843081 4:127921926-127921926
3 MFSD8 NM_152778.3(MFSD8): c.929G> A (p.Gly310Asp) single nucleotide variant Pathogenic rs118203975 4:128851907-128851907 4:127930752-127930752
4 MFSD8 NM_152778.3(MFSD8): c.1286G> A (p.Gly429Asp) single nucleotide variant Pathogenic rs118203976 4:128842743-128842743 4:127921588-127921588
5 MFSD8 NM_152778.3(MFSD8): c.894T> G (p.Tyr298Ter) single nucleotide variant Pathogenic rs118203977 4:128851942-128851942 4:127930787-127930787
6 MFSD8 MFSD8, 2-BP DEL/2-BP INS indel Pathogenic
7 MFSD8 NM_152778.3(MFSD8): c.754+2T> A single nucleotide variant Pathogenic rs587778809 4:128859936-128859936 4:127938781-127938781
8 MFSD8 NM_152778.3(MFSD8): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs724159970 4:128842888-128842888 4:127921733-127921733
9 MFSD8 NM_152778.3(MFSD8): c.1102G> C (p.Asp368His) single nucleotide variant Pathogenic rs727502800 4:128843015-128843015 4:127921860-127921860
10 MFSD8 NM_152778.3(MFSD8): c.863+3_863+4insT insertion Pathogenic rs727502801 4:128854136-128854137 4:127932981-127932982
11 MFSD8 NM_152778.3(MFSD8): c.1086del (p.Ile364fs) deletion Pathogenic 4:128843031-128843031 4:127921876-127921876
12 MFSD8 NM_152778.3(MFSD8): c.64G> T (p.Glu22Ter) single nucleotide variant Pathogenic 4:128878746-128878746 4:127957591-127957591
13 MFSD8 NM_152778.3(MFSD8): c.233G> A (p.Trp78Ter) single nucleotide variant Pathogenic 4:128865113-128865113 4:127943958-127943958
14 MFSD8 NM_152778.3(MFSD8): c.831dup (p.Val278fs) duplication Pathogenic 4:128854172-128854172 4:127933022-127933022
15 MFSD8 NM_152778.3(MFSD8): c.1444C> T (p.Arg482Ter) single nucleotide variant Pathogenic/Likely pathogenic rs724159971 4:128841898-128841898 4:127920743-127920743
16 MFSD8 NM_152778.3(MFSD8): c.440-2A> T single nucleotide variant Likely pathogenic rs751696703 4:128863315-128863315 4:127942160-127942160
17 MFSD8 NM_152778.3(MFSD8): c.1235C> T (p.Pro412Leu) single nucleotide variant Likely pathogenic rs267607235 4:128842794-128842794 4:127921639-127921639
18 MFSD8 NM_152778.3(MFSD8): c.881C> A (p.Thr294Lys) single nucleotide variant Likely pathogenic rs140948465 4:128851955-128851955 4:127930800-127930800
19 MFSD8 NM_152778.3(MFSD8): c.525T> A (p.Cys175Ter) single nucleotide variant Likely pathogenic 4:128863228-128863228 4:127942073-127942073
20 MFSD8 NM_152778.3(MFSD8): c.573A> G (p.Thr191=) single nucleotide variant Conflicting interpretations of pathogenicity rs115275192 4:128861133-128861133 4:127939978-127939978
21 MFSD8 NM_152778.3(MFSD8): c.66A> T (p.Glu22Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs145529594 4:128878744-128878744 4:127957589-127957589
22 MFSD8 NM_152778.3(MFSD8): c.199-8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs112721309 4:128865155-128865155 4:127944000-127944000
23 MFSD8 NM_152778.3(MFSD8): c.362A> G (p.Tyr121Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs118203978 4:128864984-128864984 4:127943829-127943829
24 MFSD8 NM_152778.3(MFSD8): c.1311C> G (p.Ser437=) single nucleotide variant Conflicting interpretations of pathogenicity rs145453022 4:128842718-128842718 4:127921563-127921563
25 MFSD8 NM_152778.3(MFSD8): c.590G> A (p.Gly197Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs28544073 4:128861116-128861116 4:127939961-127939961
26 MFSD8 NM_152778.3(MFSD8): c.677T> C (p.Ile226Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200591471 4:128861029-128861029 4:127939874-127939874
27 MFSD8 NM_152778.3(MFSD8): c.1351-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs75039907 4:128842000-128842000 4:127920845-127920845
28 MFSD8 NM_152778.3(MFSD8): c.1006G> C (p.Glu336Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150418024 4:128843111-128843111 4:127921956-127921956
29 MFSD8 NM_152778.2(MFSD8): c.63-4delC deletion Conflicting interpretations of pathogenicity rs755011754 4:128878751-128878751 4:127957596-127957596
30 MFSD8 NM_152778.3(MFSD8): c.206C> T (p.Pro69Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147750747 4:128865140-128865140 4:127943985-127943985
31 MFSD8 NM_152778.3(MFSD8): c.115A> T (p.Ile39Phe) single nucleotide variant Uncertain significance rs201739608 4:128878695-128878695 4:127957540-127957540
32 MFSD8 NM_152778.3(MFSD8): c.935T> C (p.Ile312Thr) single nucleotide variant Uncertain significance rs556875684 4:128851901-128851901 4:127930746-127930746
33 MFSD8 NM_152778.3(MFSD8): c.1429G> A (p.Ala477Thr) single nucleotide variant Uncertain significance rs878855229 4:128841913-128841913 4:127920758-127920758
34 MFSD8 NM_152778.3(MFSD8): c.1107G> C (p.Leu369Phe) single nucleotide variant Uncertain significance rs747197852 4:128842922-128842922 4:127921767-127921767
35 MFSD8 NC_000004.11: g.(?_128804417)_(129131208_?)dup duplication Uncertain significance 4:128804417-129131208 4:127883262-128210053
36 MFSD8 NM_152778.3(MFSD8): c.656T> C (p.Phe219Ser) single nucleotide variant Uncertain significance rs112734134 4:128861050-128861050 4:127939895-127939895
37 MFSD8 NM_152778.3(MFSD8): c.343G> A (p.Val115Met) single nucleotide variant Uncertain significance rs183450731 4:128865003-128865003 4:127943848-127943848
38 MFSD8 NM_152778.3(MFSD8): c.291G> C (p.Trp97Cys) single nucleotide variant Uncertain significance rs796052749 4:128865055-128865055 4:127943900-127943900
39 MFSD8 NM_152778.3(MFSD8): c.1475T> C (p.Ile492Thr) single nucleotide variant Uncertain significance 4:128841867-128841867 4:127920712-127920712
40 MFSD8 NM_152778.3(MFSD8): c.529G> A (p.Ala177Thr) single nucleotide variant Uncertain significance 4:128863224-128863224 4:127942069-127942069
41 MFSD8 NM_152778.3(MFSD8): c.373C> T (p.His125Tyr) single nucleotide variant Uncertain significance 4:128864973-128864973 4:127943818-127943818
42 MFSD8 NM_152778.3(MFSD8): c.18C> G (p.Asn6Lys) single nucleotide variant Uncertain significance 4:128886271-128886271 4:127965116-127965116
43 MFSD8 NM_152778.3(MFSD8): c.1445G> A (p.Arg482Gln) single nucleotide variant Uncertain significance 4:128841897-128841897 4:127920742-127920742
44 MFSD8 NM_152778.3(MFSD8): c.1066C> A (p.Pro356Thr) single nucleotide variant Uncertain significance 4:128843051-128843051 4:127921896-127921896
45 MFSD8 NM_152778.3(MFSD8): c.707G> A (p.Arg236His) single nucleotide variant Uncertain significance 4:128859985-128859985 4:127938830-127938830
46 MFSD8 NM_152778.3(MFSD8): c.37C> T (p.Leu13Phe) single nucleotide variant Uncertain significance 4:128886252-128886252 4:127965097-127965097
47 MFSD8 NM_152778.3(MFSD8): c.1408A> G (p.Met470Val) single nucleotide variant Uncertain significance rs764549054 4:128841934-128841934 4:127920779-127920779
48 MFSD8 NM_152778.3(MFSD8): c.1262C> T (p.Thr421Ile) single nucleotide variant Uncertain significance rs765587961 4:128842767-128842767 4:127921612-127921612
49 MFSD8 NM_152778.3(MFSD8): c.1136T> C (p.Phe379Ser) single nucleotide variant Uncertain significance rs191172038 4:128842893-128842893 4:127921738-127921738
50 MFSD8 NM_152778.3(MFSD8): c.998+4A> G single nucleotide variant Uncertain significance rs796052745 4:128851834-128851834 4:127930679-127930679

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 7:

74 (show all 15)
# Symbol AA change Variation ID SNP ID
1 MFSD8 p.Gly310Asp VAR_037177 rs118203975
2 MFSD8 p.Gly429Asp VAR_037180 rs118203976
3 MFSD8 p.Gly52Arg VAR_058427 rs779838200
4 MFSD8 p.Tyr121Cys VAR_058428 rs118203978
5 MFSD8 p.Arg139His VAR_058429 rs749704755
6 MFSD8 p.Ala157Pro VAR_058430
7 MFSD8 p.Thr294Lys VAR_058431 rs140948465
8 MFSD8 p.Pro447Leu VAR_058432
9 MFSD8 p.Arg465Trp VAR_058433 rs104398470
10 MFSD8 p.Thr160Ile VAR_066915 rs116275083
11 MFSD8 p.Thr160Asn VAR_066916
12 MFSD8 p.Thr458Lys VAR_066917
13 MFSD8 p.Arg465Gln VAR_066918 rs127596260
14 MFSD8 p.Met470Val VAR_066919 rs764549054
15 MFSD8 p.Pro412Leu VAR_072674 rs267607235

Expression for Ceroid Lipofuscinosis, Neuronal, 7

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 7.

Pathways for Ceroid Lipofuscinosis, Neuronal, 7

Pathways related to Ceroid Lipofuscinosis, Neuronal, 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.71 MFSD8 CLN5

GO Terms for Ceroid Lipofuscinosis, Neuronal, 7

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.43 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
2 lysosomal membrane GO:0005765 8.8 MFSD8 DNAJC5 CLN5

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.37 CLN8 CLN6
2 cholesterol metabolic process GO:0008203 9.32 CLN8 CLN6
3 lysosomal lumen acidification GO:0007042 9.26 CLN6 CLN5
4 cellular macromolecule catabolic process GO:0044265 9.16 CLN8 CLN6
5 protein catabolic process GO:0030163 9.13 CLN8 CLN6 CLN5
6 lysosome organization GO:0007040 8.8 MFSD8 CLN8 CLN6

Sources for Ceroid Lipofuscinosis, Neuronal, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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