CLN7
MCID: CRD179
MIFTS: 47

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 56 73 13 71
Cln7 56 12 52 25 73
Neuronal Ceroid Lipofuscinosis 7 12 52 15
Cln7 Disease 52 25 58
Ceroid Lipofuscinosis Neuronal 7 29 6
Cln7 Disease, Late Infantile 52 25
Mfsd8-Related Neuronal Ceroid Lipofuscinosis 25
Lipofuscinosis, Ceroid, Neuronal, Type 7 39
Turkish Variant Late Infantile Ncl 73

Characteristics:

Orphanet epidemiological data:

58
cln7 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
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:

31
ceroid lipofuscinosis, neuronal, 7:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset rapidly progressive


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110722
OMIM 56 610951
OMIM Phenotypic Series 56 PS256730
MeSH 43 D009472
ICD10 32 E75.4
ICD10 via Orphanet 33 E75.4
UMLS via Orphanet 72 C1838571
Orphanet 58 ORPHA228366
MedGen 41 C1838571
UMLS 71 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, 6 and neuronal ceroid-lipofuscinoses, 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 eeg abnormality and sleep disturbance

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 : 52 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 : 56 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 : 73 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 37)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 6 30.5 MFSD8 CLN6 CLN5
2 neuronal ceroid-lipofuscinoses 30.1 PPT1 CLN8 CLN6 CLN5 CLN3
3 ceroid storage disease 29.4 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
4 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 28.7 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
5 ceroid lipofuscinosis, neuronal, 1 28.3 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
6 lysosomal storage disease 26.9 TPP1 SGSH PPT1 CTSD CLN8 CLN6
7 ceroid lipofuscinosis, neuronal, 3 26.7 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
8 neuronal ceroid lipofuscinosis 25.9 TPP1 SGSH PPT1 MFSD8 KCTD7 DNAJC5
9 ceroid lipofuscinosis, neuronal, 10 25.0 TPP1 SGSH PPT1 MFSD8 KCTD7 DNAJC5
10 ceroid lipofuscinosis, neuronal, 5 10.4
11 ataxia and polyneuropathy, adult-onset 10.3
12 yemenite deaf-blind hypopigmentation syndrome 10.3
13 ceroid lipofuscinosis, neuronal, 8 10.2
14 rett syndrome 10.1
15 microcephaly 10.1
16 retinal degeneration 10.1
17 myoclonus 10.1
18 tremor 10.1
19 cerebral atrophy 10.1 CLN6 CLN3
20 unverricht-lundborg syndrome 10.0 CLN6 CLN5 CLN3
21 visual cortex disease 9.9 MFSD8 CLN8 CLN6 CLN5
22 visual pathway disease 9.9 MFSD8 CLN8 CLN6 CLN5
23 gm1 gangliosidosis 9.8 CLN6 CLN3
24 epilepsy 9.7 KCTD7 CLN8 CLN6 CLN5 CLN3
25 adult neuronal ceroid lipofuscinosis 9.7 TPP1 PPT1 DNAJC5 CLN6
26 progressive myoclonus epilepsy 9.5 TPP1 KCTD7 CLN6 CLN5 CLN3
27 mucopolysaccharidosis, type vii 9.5 TPP1 SGSH
28 spinocerebellar ataxia, autosomal recessive 7 9.4 TPP1 MFSD8 KCTD7 CTSF CLN8 CLN6
29 sphingolipidosis 9.2 SGSH CTSD ATP13A2
30 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.1 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN3
31 lipid storage disease 8.9 TPP1 PPT1 CTSD CLN8 CLN6 CLN5
32 ceroid lipofuscinosis, neuronal, 2 8.8 TPP1 PPT1 DNAJC5 CTSD CLN8 CLN6
33 ceroid lipofuscinosis, neuronal, 11 8.7 MFSD8 KCTD7 DNAJC5 CTSF CLN8 CLN6
34 ceroid lipofuscinosis, neuronal, 9 8.6 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
35 mucopolysaccharidosis iii 8.3 TPP1 SGSH PPT1 KCTD7 DNAJC5 CLN8
36 visual epilepsy 8.1 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
37 ceroid lipofuscinosis, neuronal, 13 6.6 TPP1 SGSH PPT1 MFSD8 KCTD7 DNAJC5

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:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 31 HP:0002353
2 sleep disturbance 31 HP:0002360
3 ataxia 31 HP:0001251
4 global developmental delay 31 HP:0001263
5 delayed speech and language development 31 HP:0000750
6 optic atrophy 31 HP:0000648
7 blindness 31 HP:0000618
8 retinopathy 31 HP:0000488
9 generalized myoclonic seizures 31 HP:0002123
10 visual loss 31 HP:0000572
11 neurodegeneration 31 HP:0002180
12 mental deterioration 31 HP:0001268
13 cerebellar atrophy 31 HP:0001272
14 cerebral atrophy 31 HP:0002059
15 pigmentary retinopathy 31 HP:0000580

Symptoms via clinical synopsis from OMIM:

56
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

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.53 KCTD7 PCYOX1 PPT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.53 KCTD7
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.53 KCTD7
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.53 PCYOX1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.53 PCYOX1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.53 PCYOX1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.53 PCYOX1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.53 PCYOX1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.53 PPT1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.53 PPT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.53 KCTD7
12 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.53 PCYOX1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.53 PCYOX1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.53 KCTD7

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ATP13A2 CLCN6 CLN3 CLN6 CLN8 CTSD
2 nervous system MP:0003631 9.97 ATP13A2 CLCN6 CLN3 CLN5 CLN6 CLN8
3 vision/eye MP:0005391 9.28 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
4 pigmentation MP:0001186 9.26 ATP13A2 CLN8 MFSD8 PPT1

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 Suspended 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:

40
Eye, Cortex

Publications for Ceroid Lipofuscinosis, Neuronal, 7

Articles related to Ceroid Lipofuscinosis, Neuronal, 7:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 61 56 6
19177532 2009
2
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 61 56 6
19201763 2009
3
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 61 56 6
18850119 2009
4
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 56 6
19277732 2009
5
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 56 6
17564970 2007
6
Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. 56 6
15074367 2004
7
Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. 61 56
15996215 2005
8
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 61 56
15024724 2004
9
A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7. 61 56
10191125 1999
10
Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. 56
27211611 2016
11
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. 6
25227500 2015
12
Neuronal ceroid lipofuscinoses. 6
19084560 2009
13
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 56
15965709 2005
14
Neuronal Ceroid-Lipofuscinoses 6
20301601 2001
15
A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis. 61
31860737 2020
16
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses. 61
31741823 2019
17
The neuronal ceroid lipofuscinosis protein Cln7 functions in the postsynaptic cell to regulate synapse development. 61
31666534 2019
18
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. 61
31029456 2019
19
A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival. 61
30301600 2019
20
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis. 61
31105743 2019
21
Discovery of a CLN7 model of Batten disease in non-human primates. 61
30048804 2018
22
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin. 61
30380624 2018
23
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation. 61
29514215 2018
24
in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels. 61
28365214 2017
25
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. 61
28586915 2017
26
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis. 61
27881166 2016
27
Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7. 61
27654426 2016
28
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? 61
26762174 2016
29
Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7. 61
26681805 2016
30
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). 61
26026925 2015
31
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. 61
25976102 2015
32
Cell biology of the NCL proteins: What they do and don't do. 61
25962910 2015
33
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. 61
25439737 2015
34
Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease. 61
24423645 2014
35
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. 61
25333361 2014
36
CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. 61
23735787 2013
37
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 61
23374165 2013
38
Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7. 61
22668694 2012
39
Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation. 61
22964447 2012
40
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 61
22532218 2012
41
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 61
21990111 2012
42
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. 61
21235444 2011
43
Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. 61
20680390 2011
44
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. 61
20826447 2010
45
Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif. 61
20406422 2010
46
Renal salt wasting and chronic dehydration in claudin-7-deficient mice. 61
19759267 2010
47
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. 61
19431184 2009
48
Analysis of NCL Proteins from an Evolutionary Standpoint. 61
19440452 2008
49
Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies. 61
23489355 2007
50
Decreased T2 signal in the thalami may be a sign of lysosomal storage disease. 61
17334752 2007

Variations for Ceroid Lipofuscinosis, Neuronal, 7

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

6 (show top 50) (show all 83) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MFSD8 NM_152778.3(MFSD8):c.1141G>T (p.Glu381Ter)SNV Pathogenic 162379 rs724159970 4:128842888-128842888 4:127921733-127921733
2 MFSD8 NM_152778.3(MFSD8):c.1102G>C (p.Asp368His)SNV Pathogenic 162380 rs727502800 4:128843015-128843015 4:127921860-127921860
3 MFSD8 NM_152778.3(MFSD8):c.863+3_863+4insTinsertion Pathogenic 162381 rs727502801 4:128854136-128854137 4:127932981-127932982
4 MFSD8 NM_152778.3(MFSD8):c.929G>A (p.Gly310Asp)SNV Pathogenic 1001 rs118203975 4:128851907-128851907 4:127930752-127930752
5 MFSD8 NM_152778.3(MFSD8):c.1286G>A (p.Gly429Asp)SNV Pathogenic 1002 rs118203976 4:128842743-128842743 4:127921588-127921588
6 MFSD8 NM_152778.3(MFSD8):c.894T>G (p.Tyr298Ter)SNV Pathogenic 1003 rs118203977 4:128851942-128851942 4:127930787-127930787
7 MFSD8 MFSD8, 2-BP DEL/2-BP INSindel Pathogenic 1007
8 MFSD8 NM_152778.3(MFSD8):c.754+2T>ASNV Pathogenic 65897 rs587778809 4:128859936-128859936 4:127938781-127938781
9 MFSD8 NM_152778.3(MFSD8):c.1086del (p.Ile364fs)deletion Pathogenic 578890 rs1460276679 4:128843031-128843031 4:127921876-127921876
10 MFSD8 NM_152778.3(MFSD8):c.64G>T (p.Glu22Ter)SNV Pathogenic 574492 rs1560776422 4:128878746-128878746 4:127957591-127957591
11 MFSD8 NM_152778.3(MFSD8):c.416G>A (p.Arg139His)SNV Pathogenic 431131 rs749704755 4:128864930-128864930 4:127943775-127943775
12 MFSD8 NM_152778.3(MFSD8):c.1036del (p.Val346fs)deletion Pathogenic 464776 rs1439582451 4:128843081-128843081 4:127921926-127921926
13 MFSD8 NM_001371596.2(MFSD8):c.831dup (p.Val278fs)duplication Pathogenic 648978 4:128854171-128854172 4:127933016-127933017
14 MFSD8 NM_152778.3(MFSD8):c.233G>A (p.Trp78Ter)SNV Pathogenic 641252 4:128865113-128865113 4:127943958-127943958
15 MFSD8 NM_001371596.2(MFSD8):c.1124del (p.Pro375fs)deletion Pathogenic 802088 4:128842905-128842905 4:127921750-127921750
16 MFSD8 NM_001371596.2(MFSD8):c.63-1G>ASNV Pathogenic 802090 4:128878748-128878748 4:127957593-127957593
17 MFSD8 NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter)SNV Pathogenic/Likely pathogenic 162382 rs724159971 4:128841898-128841898 4:127920743-127920743
18 MFSD8 NM_152778.3(MFSD8):c.1235C>T (p.Pro412Leu)SNV Likely pathogenic 1005 rs267607235 4:128842794-128842794 4:127921639-127921639
19 MFSD8 NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys)SNV Likely pathogenic 1006 rs140948465 4:128851955-128851955 4:127930800-127930800
20 MFSD8 NM_001371596.2(MFSD8):c.199-2A>GSNV Likely pathogenic 802089 4:128865149-128865149 4:127943994-127943994
21 MFSD8 NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter)SNV Likely pathogenic 802087 4:128842816-128842816 4:127921661-127921661
22 MFSD8 NM_152778.3(MFSD8):c.440-2A>TSNV Likely pathogenic 464778 rs751696703 4:128863315-128863315 4:127942160-127942160
23 MFSD8 NM_152778.3(MFSD8):c.525T>A (p.Cys175Ter)SNV Likely pathogenic 587755 rs556661896 4:128863228-128863228 4:127942073-127942073
24 MFSD8 NM_152778.3(MFSD8):c.1351-9C>TSNV Conflicting interpretations of pathogenicity 138227 rs75039907 4:128842000-128842000 4:127920845-127920845
25 MFSD8 NM_152778.3(MFSD8):c.362A>G (p.Tyr121Cys)SNV Conflicting interpretations of pathogenicity 1004 rs118203978 4:128864984-128864984 4:127943829-127943829
26 MFSD8 NM_152778.3(MFSD8):c.677T>C (p.Ile226Thr)SNV Conflicting interpretations of pathogenicity 206153 rs200591471 4:128861029-128861029 4:127939874-127939874
27 MFSD8 NM_152778.3(MFSD8):c.343G>A (p.Val115Met)SNV Uncertain significance 206147 rs183450731 4:128865003-128865003 4:127943848-127943848
28 MFSD8 NM_152778.3(MFSD8):c.291G>C (p.Trp97Cys)SNV Uncertain significance 206169 rs796052749 4:128865055-128865055 4:127943900-127943900
29 MFSD8 NM_152778.3(MFSD8):c.115A>T (p.Ile39Phe)SNV Uncertain significance 206167 rs201739608 4:128878695-128878695 4:127957540-127957540
30 MFSD8 NM_152778.3(MFSD8):c.935T>C (p.Ile312Thr)SNV Uncertain significance 211495 rs556875684 4:128851901-128851901 4:127930746-127930746
31 MFSD8 NM_152778.3(MFSD8):c.886G>A (p.Asp296Asn)SNV Uncertain significance 193764 rs147295085 4:128851950-128851950 4:127930795-127930795
32 MFSD8 NM_152778.3(MFSD8):c.656T>C (p.Phe219Ser)SNV Uncertain significance 198618 rs112734134 4:128861050-128861050 4:127939895-127939895
33 MFSD8 NM_152778.3(MFSD8):c.1408A>G (p.Met470Val)SNV Uncertain significance 206164 rs764549054 4:128841934-128841934 4:127920779-127920779
34 MFSD8 NM_152778.3(MFSD8):c.1262C>T (p.Thr421Ile)SNV Uncertain significance 206163 rs765587961 4:128842767-128842767 4:127921612-127921612
35 MFSD8 NM_152778.3(MFSD8):c.1136T>C (p.Phe379Ser)SNV Uncertain significance 206161 rs191172038 4:128842893-128842893 4:127921738-127921738
36 MFSD8 NM_152778.3(MFSD8):c.998+4A>GSNV Uncertain significance 206159 rs796052745 4:128851834-128851834 4:127930679-127930679
37 MFSD8 NM_152778.3(MFSD8):c.934A>G (p.Ile312Val)SNV Uncertain significance 206157 rs77098161 4:128851902-128851902 4:127930747-127930747
38 MFSD8 NM_152778.3(MFSD8):c.863C>T (p.Thr288Ile)SNV Uncertain significance 206156 rs755384900 4:128854140-128854140 4:127932985-127932985
39 MFSD8 NM_152778.3(MFSD8):c.832G>A (p.Val278Met)SNV Uncertain significance 206155 rs796052743 4:128854171-128854171 4:127933016-127933016
40 MFSD8 NM_152778.3(MFSD8):c.706C>T (p.Arg236Cys)SNV Uncertain significance 206154 rs758002981 4:128859986-128859986 4:127938831-127938831
41 MFSD8 NM_152778.3(MFSD8):c.699-5T>GSNV Uncertain significance 206170 4:128859998-128859998 4:127938843-127938843
42 MFSD8 NM_152778.3(MFSD8):c.1429G>A (p.Ala477Thr)SNV Uncertain significance 241995 rs878855229 4:128841913-128841913 4:127920758-127920758
43 MFSD8 NM_152778.3(MFSD8):c.1107G>C (p.Leu369Phe)SNV Uncertain significance 347542 rs747197852 4:128842922-128842922 4:127921767-127921767
44 MFSD8 NM_152778.3(MFSD8):c.316C>T (p.Pro106Ser)SNV Uncertain significance 408899 rs757793193 4:128865030-128865030 4:127943875-127943875
45 MFSD8 NC_000004.11:g.(?_128851838)_(128886363_?)dupduplication Uncertain significance 417451 4:128851838-128886363 4:127930683-127965208
46 MFSD8 NM_152778.3(MFSD8):c.1361T>C (p.Met454Thr)SNV Uncertain significance 418295 rs559155109 4:128841981-128841981 4:127920826-127920826
47 MFSD8 NM_152778.3(MFSD8):c.961G>A (p.Val321Ile)SNV Uncertain significance 533369 rs76506918 4:128851875-128851875 4:127930720-127930720
48 MFSD8 NM_152778.3(MFSD8):c.151G>T (p.Val51Leu)SNV Uncertain significance 533370 rs1408300356 4:128878659-128878659 4:127957504-127957504
49 MFSD8 NM_152778.3(MFSD8):c.999G>C (p.Lys333Asn)SNV Uncertain significance 533373 rs1057520312 4:128843118-128843118 4:127921963-127921963
50 MFSD8 NM_152778.3(MFSD8):c.1322A>G (p.Tyr441Cys)SNV Uncertain significance 533375 rs749153763 4:128842707-128842707 4:127921552-127921552

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

73 (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 11.32 TPP1 SGSH PPT1 MFSD8 CTSF CTSD

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 extracellular exosome GO:0070062 9.95 TPP1 SGSH PPT1 PCYOX1 CTSF CTSD
2 cell GO:0005623 9.8 PPT1 KCTD7 CLN6 CLN5 CLN3 CLCN6
3 lysosomal membrane GO:0005765 9.7 MFSD8 DNAJC5 CTSD CLN5 CLN3 CLCN6
4 membrane raft GO:0045121 9.61 PPT1 CTSD CLN3
5 synaptic vesicle GO:0008021 9.54 PPT1 DNAJC5 CLN3
6 melanosome GO:0042470 9.5 TPP1 DNAJC5 CTSD
7 lysosomal lumen GO:0043202 9.43 TPP1 SGSH PPT1 CTSF CTSD ATP13A2
8 lysosome GO:0005764 9.32 TPP1 SGSH PPT1 PCYOX1 MFSD8 CTSF

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.67 PPT1 CLN8 CLN6
2 negative regulation of neuron apoptotic process GO:0043524 9.63 PPT1 DNAJC5 CLN3
3 neuromuscular process controlling balance GO:0050885 9.54 TPP1 CLN8 CLN3
4 associative learning GO:0008306 9.5 PPT1 CLN8 CLN3
5 negative regulation of proteolysis GO:0045861 9.48 CLN8 CLN3
6 lysosomal lumen acidification GO:0007042 9.46 PPT1 CLN6 CLN5 CLN3
7 cellular protein catabolic process GO:0044257 9.43 PPT1 CLN8
8 cellular macromolecule catabolic process GO:0044265 9.43 PPT1 CLN8 CLN6
9 protein catabolic process GO:0030163 9.43 TPP1 PPT1 CTSD CLN8 CLN6 CLN5
10 glycosaminoglycan metabolic process GO:0030203 9.4 SGSH CLN6
11 lysosome organization GO:0007040 9.1 TPP1 PPT1 MFSD8 CLN8 CLN6 CLN3

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.1 TPP1 SGSH PPT1 CTSF CTSD ATP13A2

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
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32 ICD10
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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