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CLN7
MCID: CRD179
MIFTS: 43

Ceroid Lipofuscinosis, Neuronal, 7 (CLN7)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 7

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MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 7:

Name: Ceroid Lipofuscinosis, Neuronal, 7 58 76 13 74
Cln7 58 12 54 26 76
Neuronal Ceroid Lipofuscinosis 7 12 54 15
Cln7 Disease 54 26 60
Ceroid Lipofuscinosis Neuronal 7 30 6
Cln7 Disease, Late Infantile 54 26
Mfsd8-Related Neuronal Ceroid Lipofuscinosis 26
Lipofuscinosis, Ceroid, Neuronal, Type 7 41
Turkish Variant Late Infantile Ncl 76

Characteristics:

Orphanet epidemiological data:

60
cln7 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
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:

33
ceroid lipofuscinosis, neuronal, 7:
Onset and clinical course rapidly progressive juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110722
OMIM 58 610951
MeSH 45 D009472
ICD10 34 E75.4
ICD10 via Orphanet 35 E75.4
UMLS via Orphanet 75 C1838571
Orphanet 60 ORPHA228366
MedGen 43 C1838571
UMLS 74 C1838571
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Summaries for Ceroid Lipofuscinosis, Neuronal, 7

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NIH Rare Diseases : 54 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.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 7, also known as cln7, is related to ceroid lipofuscinosis, neuronal, 1 and ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant, 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 cortex, 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.

Genetics Home Reference : 26 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.

OMIM : 58 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 : 76 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.

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Related Diseases for Ceroid Lipofuscinosis, Neuronal, 7

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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 20)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 1 30.3 CLN5 CLN6 CLN8 DNAJC5 KCTD7 MFSD8
2 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 29.2 CLN5 CLN6 CLN8 MFSD8
3 neuronal ceroid lipofuscinosis 28.6 CLN5 CLN6 CLN8 DNAJC5 KCTD7 MFSD8
4 ceroid lipofuscinosis, neuronal, 8 10.1
5 retinal degeneration 10.1
6 visual cortex disease 10.0 CLN8 MFSD8
7 visual pathway disease 10.0 CLN8 MFSD8
8 ceroid lipofuscinosis, neuronal, 3 9.8 CLN5 CLN6
9 progressive myoclonus epilepsy 9.8 CLN6 KCTD7
10 visual epilepsy 9.8 CLN8 MFSD8
11 cerebral atrophy 9.8 CLN6 DNAJC5
12 adult neuronal ceroid lipofuscinosis 9.8 CLN6 DNAJC5
13 lipid storage disease 9.6 CLN5 CLN6 CLN8
14 ceroid lipofuscinosis, neuronal, 9 9.2 CLN5 CLN6 CLN8 DNAJC5
15 ceroid lipofuscinosis, neuronal, 13 9.2 CLN5 CLN8 DNAJC5 KCTD7
16 ceroid lipofuscinosis, neuronal, 10 9.2 CLN5 CLN6 CLN8 DNAJC5
17 ceroid storage disease 9.2 CLN5 CLN6 CLN8 DNAJC5
18 neuronal ceroid-lipofuscinoses 9.0 CLN5 CLN6 CLN8 DNAJC5 MFSD8
19 ceroid lipofuscinosis, neuronal, 2 8.7 CLN5 CLN6 CLN8 DNAJC5 KCTD7 MFSD8
20 ceroid lipofuscinosis, neuronal, 11 8.7 CLN5 CLN6 CLN8 DNAJC5 KCTD7 MFSD8

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



Diseases related to Ceroid Lipofuscinosis, Neuronal, 7
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Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 7

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Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 7:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ataxia 33 HP:0001251
2 eeg abnormality 33 HP:0002353
3 sleep disturbance 33 HP:0002360
4 global developmental delay 33 HP:0001263
5 delayed speech and language development 33 HP:0000750
6 optic atrophy 33 HP:0000648
7 blindness 33 HP:0000618
8 retinopathy 33 HP:0000488
9 generalized myoclonic seizures 33 HP:0002123
10 visual loss 33 HP:0000572
11 neurodegeneration 33 HP:0002180
12 mental deterioration 33 HP:0001268
13 cerebellar atrophy 33 HP:0001272
14 cerebral atrophy 33 HP:0002059
15 pigmentary retinopathy 33 HP:0000580

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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
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Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 7

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease Recruiting NCT03822650
2 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 7

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Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 7

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Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 7:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 7 30 MFSD8
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Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 7

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

42
Eye, Cortex
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Publications for Ceroid Lipofuscinosis, Neuronal, 7

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Articles related to Ceroid Lipofuscinosis, Neuronal, 7:

(show all 22)
# Title Authors Year
1
A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival. ( 30301600 )
2019
2
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation. ( 29514215 )
2018
3
Discovery of a CLN7 model of Batten disease in non-human primates. ( 30048804 )
2018
4
in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels. ( 28365214 )
2017
5
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. ( 28586915 )
2017
6
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? ( 26762174 )
2016
7
Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7. ( 27654426 )
2016
8
Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7. ( 26681805 )
2016
9
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. ( 25439737 )
2015
10
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. ( 25227500 )
2015
11
Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease. ( 24423645 )
2014
12
Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7. ( 22668694 )
2012
13
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. ( 20826447 )
2010
14
Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif. ( 20406422 )
2010
15
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. ( 19177532 )
2009
16
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. ( 19201763 )
2009
17
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. ( 19277732 )
2009
18
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. ( 18850119 )
2009
19
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. ( 17564970 )
2007
20
Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. ( 15074367 )
2004
21
Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. ( 11589000 )
2001
22
A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7. ( 10191125 )
1999
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Variations for Ceroid Lipofuscinosis, Neuronal, 7

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

76 (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

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

6 (show top 50) (show all 153)
# Gene Variation Type Significance SNP ID Assembly Location
1 MFSD8 NM_152778.2(MFSD8): c.929G> A (p.Gly310Asp) single nucleotide variant Pathogenic rs118203975 GRCh37 Chromosome 4, 128851907: 128851907
2 MFSD8 NM_152778.2(MFSD8): c.929G> A (p.Gly310Asp) single nucleotide variant Pathogenic rs118203975 GRCh38 Chromosome 4, 127930752: 127930752
3 MFSD8 NM_152778.2(MFSD8): c.1286G> A (p.Gly429Asp) single nucleotide variant Pathogenic rs118203976 GRCh37 Chromosome 4, 128842743: 128842743
4 MFSD8 NM_152778.2(MFSD8): c.1286G> A (p.Gly429Asp) single nucleotide variant Pathogenic rs118203976 GRCh38 Chromosome 4, 127921588: 127921588
5 MFSD8 NM_152778.2(MFSD8): c.894T> G (p.Tyr298Ter) single nucleotide variant Pathogenic rs118203977 GRCh37 Chromosome 4, 128851942: 128851942
6 MFSD8 NM_152778.2(MFSD8): c.894T> G (p.Tyr298Ter) single nucleotide variant Pathogenic rs118203977 GRCh38 Chromosome 4, 127930787: 127930787
7 MFSD8 NM_152778.2(MFSD8): c.362A> G (p.Tyr121Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs118203978 GRCh37 Chromosome 4, 128864984: 128864984
8 MFSD8 NM_152778.2(MFSD8): c.362A> G (p.Tyr121Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs118203978 GRCh38 Chromosome 4, 127943829: 127943829
9 MFSD8 NM_152778.2(MFSD8): c.1235C> T (p.Pro412Leu) single nucleotide variant Likely pathogenic rs267607235 GRCh37 Chromosome 4, 128842794: 128842794
10 MFSD8 NM_152778.2(MFSD8): c.1235C> T (p.Pro412Leu) single nucleotide variant Likely pathogenic rs267607235 GRCh38 Chromosome 4, 127921639: 127921639
11 MFSD8 NM_152778.2(MFSD8): c.881C> A (p.Thr294Lys) single nucleotide variant Likely pathogenic rs140948465 GRCh37 Chromosome 4, 128851955: 128851955
12 MFSD8 NM_152778.2(MFSD8): c.881C> A (p.Thr294Lys) single nucleotide variant Likely pathogenic rs140948465 GRCh38 Chromosome 4, 127930800: 127930800
13 MFSD8 MFSD8, 2-BP DEL/2-BP INS indel Pathogenic
14 MFSD8 NM_152778.2(MFSD8): c.754+2T> A single nucleotide variant Pathogenic rs587778809 GRCh37 Chromosome 4, 128859936: 128859936
15 MFSD8 NM_152778.2(MFSD8): c.754+2T> A single nucleotide variant Pathogenic rs587778809 GRCh38 Chromosome 4, 127938781: 127938781
16 MFSD8 NM_152778.2(MFSD8): c.1153G> C (p.Gly385Arg) single nucleotide variant Benign/Likely benign rs11098943 GRCh37 Chromosome 4, 128842876: 128842876
17 MFSD8 NM_152778.2(MFSD8): c.1153G> C (p.Gly385Arg) single nucleotide variant Benign/Likely benign rs11098943 GRCh38 Chromosome 4, 127921721: 127921721
18 MFSD8 NM_152778.2(MFSD8): c.573A> G (p.Thr191=) single nucleotide variant Conflicting interpretations of pathogenicity rs115275192 GRCh37 Chromosome 4, 128861133: 128861133
19 MFSD8 NM_152778.2(MFSD8): c.573A> G (p.Thr191=) single nucleotide variant Conflicting interpretations of pathogenicity rs115275192 GRCh38 Chromosome 4, 127939978: 127939978
20 MFSD8 NM_152778.2(MFSD8): c.66A> T (p.Glu22Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs145529594 GRCh37 Chromosome 4, 128878744: 128878744
21 MFSD8 NM_152778.2(MFSD8): c.66A> T (p.Glu22Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs145529594 GRCh38 Chromosome 4, 127957589: 127957589
22 MFSD8 NM_152778.2(MFSD8): c.199-8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs112721309 GRCh37 Chromosome 4, 128865155: 128865155
23 MFSD8 NM_152778.2(MFSD8): c.199-8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs112721309 GRCh38 Chromosome 4, 127944000: 127944000
24 MFSD8 NM_152778.2(MFSD8): c.1041A> G (p.Val347=) single nucleotide variant Benign/Likely benign rs148291156 GRCh37 Chromosome 4, 128843076: 128843076
25 MFSD8 NM_152778.2(MFSD8): c.1041A> G (p.Val347=) single nucleotide variant Benign/Likely benign rs148291156 GRCh38 Chromosome 4, 127921921: 127921921
26 MFSD8 NM_152778.2(MFSD8): c.1311C> G (p.Ser437=) single nucleotide variant Conflicting interpretations of pathogenicity rs145453022 GRCh37 Chromosome 4, 128842718: 128842718
27 MFSD8 NM_152778.2(MFSD8): c.1311C> G (p.Ser437=) single nucleotide variant Conflicting interpretations of pathogenicity rs145453022 GRCh38 Chromosome 4, 127921563: 127921563
28 MFSD8 NM_152778.2(MFSD8): c.1351-9C> A single nucleotide variant Benign rs75039907 GRCh37 Chromosome 4, 128842000: 128842000
29 MFSD8 NM_152778.2(MFSD8): c.1351-9C> A single nucleotide variant Benign rs75039907 GRCh38 Chromosome 4, 127920845: 127920845
30 MFSD8 NM_152778.2(MFSD8): c.1351-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs75039907 GRCh37 Chromosome 4, 128842000: 128842000
31 MFSD8 NM_152778.2(MFSD8): c.1351-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs75039907 GRCh38 Chromosome 4, 127920845: 127920845
32 MFSD8 NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150418024 GRCh38 Chromosome 4, 127921956: 127921956
33 MFSD8 NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150418024 GRCh37 Chromosome 4, 128843111: 128843111
34 MFSD8 NM_152778.2(MFSD8): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs724159970 GRCh38 Chromosome 4, 127921733: 127921733
35 MFSD8 NM_152778.2(MFSD8): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs724159970 GRCh37 Chromosome 4, 128842888: 128842888
36 MFSD8 NM_152778.2(MFSD8): c.1102G> C (p.Asp368His) single nucleotide variant Pathogenic rs727502800 GRCh38 Chromosome 4, 127921860: 127921860
37 MFSD8 NM_152778.2(MFSD8): c.1102G> C (p.Asp368His) single nucleotide variant Pathogenic rs727502800 GRCh37 Chromosome 4, 128843015: 128843015
38 MFSD8 NM_152778.2(MFSD8): c.863+3_863+4insT insertion Pathogenic rs727502801 GRCh37 Chromosome 4, 128854136: 128854137
39 MFSD8 NM_152778.2(MFSD8): c.863+3_863+4insT insertion Pathogenic rs727502801 GRCh38 Chromosome 4, 127932981: 127932982
40 MFSD8 NM_152778.2(MFSD8): c.1444C> T (p.Arg482Ter) single nucleotide variant Pathogenic/Likely pathogenic rs724159971 GRCh37 Chromosome 4, 128841898: 128841898
41 MFSD8 NM_152778.2(MFSD8): c.1444C> T (p.Arg482Ter) single nucleotide variant Pathogenic/Likely pathogenic rs724159971 GRCh38 Chromosome 4, 127920743: 127920743
42 MFSD8 NM_152778.2(MFSD8): c.886G> A (p.Asp296Asn) single nucleotide variant Uncertain significance rs147295085 GRCh37 Chromosome 4, 128851950: 128851950
43 MFSD8 NM_152778.2(MFSD8): c.886G> A (p.Asp296Asn) single nucleotide variant Uncertain significance rs147295085 GRCh38 Chromosome 4, 127930795: 127930795
44 MFSD8 NM_152778.2(MFSD8): c.63-4delC deletion Conflicting interpretations of pathogenicity rs755011754 GRCh37 Chromosome 4, 128878751: 128878751
45 MFSD8 NM_152778.2(MFSD8): c.63-4delC deletion Conflicting interpretations of pathogenicity rs755011754 GRCh38 Chromosome 4, 127957596: 127957596
46 MFSD8 NM_152778.2(MFSD8): c.656T> C (p.Phe219Ser) single nucleotide variant Uncertain significance rs112734134 GRCh37 Chromosome 4, 128861050: 128861050
47 MFSD8 NM_152778.2(MFSD8): c.656T> C (p.Phe219Ser) single nucleotide variant Uncertain significance rs112734134 GRCh38 Chromosome 4, 127939895: 127939895
48 MFSD8 NM_152778.2(MFSD8): c.590G> A (p.Gly197Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs28544073 GRCh37 Chromosome 4, 128861116: 128861116
49 MFSD8 NM_152778.2(MFSD8): c.590G> A (p.Gly197Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs28544073 GRCh38 Chromosome 4, 127939961: 127939961
50 MFSD8 NM_152778.2(MFSD8): c.1408A> G (p.Met470Val) single nucleotide variant Uncertain significance rs764549054 GRCh37 Chromosome 4, 128841934: 128841934
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Expression for Ceroid Lipofuscinosis, Neuronal, 7

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

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

# Super pathways Score Top Affiliating Genes
1
Lysosome 38
10.71 CLN5 MFSD8
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GO Terms for Ceroid Lipofuscinosis, Neuronal, 7

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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 CLN5 CLN6 CLN8 DNAJC5 KCTD7 MFSD8
2 lysosomal membrane GO:0005765 8.8 CLN5 DNAJC5 MFSD8

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 9.32 CLN6 CLN8
2 lysosomal lumen acidification GO:0007042 9.26 CLN5 CLN6
3 protein catabolic process GO:0030163 9.13 CLN5 CLN6 CLN8
4 visual perception GO:0007601 9.07 CLN6
5 cellular macromolecule catabolic process GO:0044265 8.85 CLN6
6 lysosome organization GO:0007040 8.62 CLN6 MFSD8
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Sources for Ceroid Lipofuscinosis, Neuronal, 7

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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