CLN7
MCID: CRD179
MIFTS: 49

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 73 13 71
Neuronal Ceroid Lipofuscinosis 7 12 20 29 6 15
Cln7 57 12 20 43 73
Cln7 Disease 20 43 58
Cln7 Disease, Late Infantile 20 43
Mfsd8-Related Neuronal Ceroid Lipofuscinosis 43
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®:

57 (Updated 05-Mar-2021)
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® 57 610951
OMIM Phenotypic Series 57 PS256730
MeSH 44 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

MedlinePlus Genetics : 43 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 problems with movement that might seem like clumsiness, including muscle twitches (myoclonus) and difficulty coordinating movements (ataxia). Additional features of CLN7 disease are 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 neuronal ceroid lipofuscinosis 7, is related to ceroid lipofuscinosis, neuronal, 6 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 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.

GARD : 20 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) (Updated 05-Mar-2021)

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 top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 6 29.7 TPP1 MFSD8 CLN8 CLN6 CLN5
2 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 28.7 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
3 neuronal ceroid-lipofuscinoses 28.6 TPP1 PPT1 MFSD8 DNAJC5 CTSF CTSD
4 lysosomal storage disease 27.7 TPP1 SGSH PPT1 CTSD CLN6 CLN5
5 ceroid lipofuscinosis, neuronal, 1 27.6 TPP1 SGSH PPT1 MFSD8 KCTD7 DNAJC5
6 neuronal ceroid lipofuscinosis 26.8 TPP1 SGSH PPT1 MFSD8 KCTD7 DNAJC5
7 ceroid lipofuscinosis, neuronal, 3 26.8 TPP1 SGSH PPT1 MFSD8 KCTD7 DNAJC5
8 ceroid lipofuscinosis, neuronal, 10 25.9 TPP1 SGSH PPT1 MFSD8 KCTD7 DNAJC5
9 progressive myoclonus epilepsy 1b 10.2 MFSD8 KCTD7
10 epilepsy, idiopathic generalized 5 10.2 KCTD7 CLN8
11 ataxia and polyneuropathy, adult-onset 10.2
12 peripheral retinal degeneration 10.1 CLN5 CLN3
13 progressive myoclonus epilepsy 1a 10.1 PPT1 KCTD7
14 yemenite deaf-blind hypopigmentation syndrome 10.1
15 aspartylglucosaminuria 10.1 CLN6 CLN5 CLN3
16 central core myopathy 10.1 PPT1 CLN8
17 glycoproteinosis 10.1 CLN6 CLN3
18 mucopolysaccharidosis, type iiic 10.0 SGSH MFSD8
19 ceroid lipofuscinosis, neuronal, 8 10.0
20 early myoclonic encephalopathy 10.0 KCTD7 CLN8 CLN6
21 mannosidosis, alpha b, lysosomal 10.0 SGSH MFSD8 CLN6
22 triiodothyronine receptor auxiliary protein 9.9
23 retinitis pigmentosa 9.9
24 rett syndrome 9.9
25 macular dystrophy with central cone involvement 9.9
26 cone dystrophy 9.9
27 microcephaly 9.9
28 retinal disease 9.9
29 retinal degeneration 9.9
30 fundus dystrophy 9.9
31 myoclonus 9.9
32 tremor 9.9
33 inherited retinal disorder 9.9
34 mucopolysaccharidosis, type iiib 9.8 TPP1 SGSH CLN6
35 epilepsy 9.8 KCTD7 CLN8 CLN6 CLN5 CLN3
36 mucopolysaccharidosis, type vii 9.8 TPP1 SGSH
37 gm1 gangliosidosis 9.8 SGSH CLN3
38 progressive myoclonus epilepsy 9.7 TPP1 KCTD7 CLN6 CLN5 CLN3
39 tay-sachs disease 9.7 TPP1 SGSH CLN6 CLN3
40 unverricht-lundborg syndrome 9.6 PPT1 MFSD8 KCTD7 CLN6 CLN5 CLN3
41 progressive myoclonus epilepsy 3 9.6 TPP1 PPT1 MFSD8 KCTD7 CLN8 CLN6
42 adult neuronal ceroid lipofuscinosis 9.5 TPP1 PPT1 DNAJC5 CTSF CLN6
43 lipid storage disease 9.5 TPP1 PPT1 CLN8 CLN6 CLN5 CLN3
44 mucopolysaccharidosis, type iiia 9.5 TPP1 SGSH DNAJC5 CLN6 CLN3
45 ceroid lipofuscinosis, neuronal, 9 9.5 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
46 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.3 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN3
47 visual epilepsy 9.3 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
48 mucopolysaccharidosis iii 9.1 TPP1 SGSH PPT1 MFSD8 DNAJC5 CLN6
49 mucopolysaccharidosis-plus syndrome 9.1 TPP1 SGSH PPT1 CTSD CLN6 CLN5
50 ceroid lipofuscinosis, neuronal, 2 8.9 TPP1 PPT1 MFSD8 DNAJC5 CTSD CLN8

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 mental deterioration 31 HP:0001268
10 cerebellar atrophy 31 HP:0001272
11 cerebral atrophy 31 HP:0002059
12 pigmentary retinopathy 31 HP:0000580
13 visual loss 31 HP:0000572
14 neurodegeneration 31 HP:0002180
15 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
ataxia
cerebellar atrophy
cerebral atrophy
neurodegeneration
myoclonic seizures
more
Head And Neck Eyes:
optic atrophy
blindness
retinopathy
loss of vision, progressive

Clinical features from OMIM®:

610951 (Updated 05-Mar-2021)

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 behavior/neurological MP:0005386 10.07 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 Phase 1 Intrathecal Lumbar Administration of AAV9/CLN7 for Treatment of CLN7 Disease Not yet recruiting NCT04737460 Phase 1
2 A Natural History and Outcome Measure Discovery Study of Variant Late Infantile Neuronal Ceroid Lipofuscinosis Type 5 (CLN5) and Variant Late Infantile Neuronal Ceroid Lipofuscinosis Type 7 (CLN7) 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 Neuronal Ceroid Lipofuscinosis 7 29 MFSD8

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 7

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

40
Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 7

Articles related to Ceroid Lipofuscinosis, Neuronal, 7:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 57 6 61
19201763 2009
2
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 57 6 61
19177532 2009
3
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 61 6 57
18850119 2009
4
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. 6 57
31597037 2019
5
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 57 6
19277732 2009
6
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 6 57
17564970 2007
7
Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. 57 6
15074367 2004
8
Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. 57 61
15996215 2005
9
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 57 61
15024724 2004
10
A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7. 57 61
10191125 1999
11
Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. 57
27211611 2016
12
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. 6
25227500 2015
13
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 57
15965709 2005
14
Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses. 61
33532713 2021
15
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy. 61
33507209 2021
16
Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy. 61
33242182 2021
17
Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses. 61
32855186 2020
18
Mfsd8 localizes to endocytic compartments and influences the secretion of Cln5 and cathepsin D in Dictyostelium. 61
32087303 2020
19
A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis. 61
31860737 2020
20
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses. 61
31741823 2019
21
The neuronal ceroid lipofuscinosis protein Cln7 functions in the postsynaptic cell to regulate synapse development. 61
31666534 2019
22
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. 61
31029456 2019
23
A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival. 61
30301600 2019
24
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis. 61
31105743 2019
25
Discovery of a CLN7 model of Batten disease in non-human primates. 61
30048804 2018
26
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin. 61
30380624 2018
27
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation. 61
29514215 2018
28
in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels. 61
28365214 2017
29
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. 61
28586915 2017
30
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis. 61
27881166 2016
31
Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7. 61
27654426 2016
32
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? 61
26762174 2016
33
Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7. 61
26681805 2016
34
Cell biology of the NCL proteins: What they do and don't do. 61
25962910 2015
35
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. 61
25976102 2015
36
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). 61
26026925 2015
37
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
38
Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease. 61
24423645 2014
39
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. 61
25333361 2014
40
CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. 61
23735787 2013
41
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 61
23374165 2013
42
Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation. 61
22964447 2012
43
Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7. 61
22668694 2012
44
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 61
22532218 2012
45
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 61
21990111 2012
46
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. 61
21235444 2011
47
Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. 61
20680390 2011
48
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. 61
20826447 2010
49
Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif. 61
20406422 2010
50
Renal salt wasting and chronic dehydration in claudin-7-deficient mice. 61
19759267 2010

Variations for Ceroid Lipofuscinosis, Neuronal, 7

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

6 (show top 50) (show all 234)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MFSD8 NM_001371596.2(MFSD8):c.468_469delinsCC (p.Ala157Pro) Indel Pathogenic 1007 4:128863284-128863285 4:127942129-127942130
2 MFSD8 NM_152778.3(MFSD8):c.754+2T>A SNV Pathogenic 65897 rs587778809 4:128859936-128859936 4:127938781-127938781
3 MFSD8 NM_152778.3(MFSD8):c.1141G>T (p.Glu381Ter) SNV Pathogenic 162379 rs724159970 4:128842888-128842888 4:127921733-127921733
4 MFSD8 NM_152778.3(MFSD8):c.1102G>C (p.Asp368His) SNV Pathogenic 162380 rs727502800 4:128843015-128843015 4:127921860-127921860
5 MFSD8 NM_152778.3(MFSD8):c.863+3_863+4insT Insertion Pathogenic 162381 rs727502801 4:128854136-128854137 4:127932981-127932982
6 MFSD8 NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) SNV Pathogenic 162382 rs724159971 4:128841898-128841898 4:127920743-127920743
7 MFSD8 NM_152778.3(MFSD8):c.1286G>A (p.Gly429Asp) SNV Pathogenic 1002 rs118203976 4:128842743-128842743 4:127921588-127921588
8 MFSD8 NM_152778.3(MFSD8):c.894T>G (p.Tyr298Ter) SNV Pathogenic 1003 rs118203977 4:128851942-128851942 4:127930787-127930787
9 MFSD8 NM_152778.3(MFSD8):c.1235C>T (p.Pro412Leu) SNV Pathogenic 1005 rs267607235 4:128842794-128842794 4:127921639-127921639
10 MFSD8 NM_152778.3(MFSD8):c.1036del (p.Val346fs) Deletion Pathogenic 464776 rs1439582451 4:128843081-128843081 4:127921926-127921926
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.1086del (p.Ile364fs) Deletion Pathogenic 578890 rs1460276679 4:128843031-128843031 4:127921876-127921876
13 MFSD8 NM_001371596.2(MFSD8):c.831dup (p.Val278fs) Duplication Pathogenic 648978 rs775699005 4:128854171-128854172 4:127933016-127933017
14 MFSD8 NM_152778.3(MFSD8):c.1361T>C (p.Met454Thr) SNV Pathogenic 418295 rs559155109 4:128841981-128841981 4:127920826-127920826
15 MFSD8 NM_152778.3(MFSD8):c.233G>A (p.Trp78Ter) SNV Pathogenic 641252 rs1578912362 4:128865113-128865113 4:127943958-127943958
16 MFSD8 NM_152778.3(MFSD8):c.64G>T (p.Glu22Ter) SNV Pathogenic 574492 rs1560776422 4:128878746-128878746 4:127957591-127957591
17 MFSD8 NC_000004.12:g.(?_127920610)_(127957612_?)del Deletion Pathogenic 830407 4:128841765-128878767
18 MFSD8 NC_000004.12:g.(?_127930663)_(127933113_?)del Deletion Pathogenic 830961 4:128851818-128854268
19 MFSD8 NC_000004.12:g.(?_127930663)_(127965153_?)del Deletion Pathogenic 831293 4:128851818-128886308
20 MFSD8 NC_000004.12:g.(?_127965052)_(127965153_?)del Deletion Pathogenic 831882 4:128886207-128886308
21 MFSD8 NC_000004.12:g.(?_127932965)_(127933113_?)del Deletion Pathogenic 832788 4:128854120-128854268
22 MFSD8 NC_000004.12:g.(?_127965062)_(127965143_?)del Deletion Pathogenic 832802 4:128886217-128886298
23 MFSD8 NM_001371596.2(MFSD8):c.1124del (p.Pro375fs) Deletion Pathogenic 802088 rs1578794927 4:128842905-128842905 4:127921750-127921750
24 MFSD8 NM_001371596.2(MFSD8):c.63-1G>A SNV Pathogenic 802090 rs1314967038 4:128878748-128878748 4:127957593-127957593
25 MFSD8 NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter) SNV Pathogenic 846459 4:128878707-128878707 4:127957552-127957552
26 MFSD8 NM_001371596.2(MFSD8):c.863+1G>T SNV Pathogenic 856831 4:128854139-128854139 4:127932984-127932984
27 MFSD8 NM_001371596.2(MFSD8):c.27_33delinsCC (p.Glu9fs) Indel Pathogenic 964651 4:128886256-128886262 4:127965101-127965107
28 MFSD8 NM_001371596.2(MFSD8):c.754+1G>A SNV Pathogenic 872266 4:128859937-128859937 4:127938782-127938782
29 MFSD8 NM_001371596.2(MFSD8):c.863+1G>A SNV Pathogenic 504888 rs200319160 4:128854139-128854139 4:127932984-127932984
30 MFSD8 NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys) SNV Pathogenic/Likely pathogenic 1006 rs140948465 4:128851955-128851955 4:127930800-127930800
31 MFSD8 NM_152778.3(MFSD8):c.440-2A>T SNV Likely pathogenic 464778 rs751696703 4:128863315-128863315 4:127942160-127942160
32 MFSD8 NM_001371596.2(MFSD8):c.627_643del (p.Met209fs) Deletion Likely pathogenic 813897 rs1578889355 4:128861063-128861079 4:127939908-127939924
33 MFSD8 NM_001371596.2(MFSD8):c.199-2A>G SNV Likely pathogenic 802089 rs1578912759 4:128865149-128865149 4:127943994-127943994
34 MFSD8 NM_001371596.2(MFSD8):c.699-1G>C SNV Likely pathogenic 836120 4:128859994-128859994 4:127938839-127938839
35 MFSD8 NC_000004.12:g.(?_127957491)_(127957602_?)dup Duplication Likely pathogenic 833251 4:128878646-128878757
36 MFSD8 NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter) SNV Likely pathogenic 802087 rs778875017 4:128842816-128842816 4:127921661-127921661
37 MFSD8 NM_152778.3(MFSD8):c.525T>A (p.Cys175Ter) SNV Likely pathogenic 587755 rs556661896 4:128863228-128863228 4:127942073-127942073
38 MFSD8 NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) SNV Likely pathogenic 162382 rs724159971 4:128841898-128841898 4:127920743-127920743
39 MFSD8 NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln) SNV Likely pathogenic 983438 4:128841948-128841948 4:127920793-127920793
40 MFSD8 NM_001371596.2(MFSD8):c.63-652_74del Deletion Likely pathogenic 968635 4:128878736-128879399 4:127957581-127958244
41 MFSD8 NM_001371596.2(MFSD8):c.199-1G>C SNV Likely pathogenic 938421 4:128865148-128865148 4:127943993-127943993
42 MFSD8 NM_001371596.2(MFSD8):c.1103-2del Deletion Likely pathogenic 852257 4:128842928-128842928 4:127921773-127921773
43 MFSD8 NM_001371596.2(MFSD8):c.1350+2T>C SNV Likely pathogenic 930771 4:128842677-128842677 4:127921522-127921522
44 MFSD8 NM_001371596.2(MFSD8):c.923A>G (p.Tyr308Cys) SNV Likely pathogenic 930986 4:128851913-128851913 4:127930758-127930758
45 MFSD8 NM_152778.3(MFSD8):c.206C>T (p.Pro69Leu) SNV Conflicting interpretations of pathogenicity 206143 rs147750747 4:128865140-128865140 4:127943985-127943985
46 MFSD8 NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) SNV Conflicting interpretations of pathogenicity 162378 rs150418024 4:128843111-128843111 4:127921956-127921956
47 MFSD8 NM_152778.3(MFSD8):c.1066C>A (p.Pro356Thr) SNV Conflicting interpretations of pathogenicity 581405 rs756204684 4:128843051-128843051 4:127921896-127921896
48 MFSD8 NM_152778.3(MFSD8):c.1287C>T (p.Gly429=) SNV Conflicting interpretations of pathogenicity 138224 rs138072045 4:128842742-128842742 4:127921587-127921587
49 MFSD8 NM_152778.3(MFSD8):c.706C>T (p.Arg236Cys) SNV Uncertain significance 206154 rs758002981 4:128859986-128859986 4:127938831-127938831
50 MFSD8 NM_152778.3(MFSD8):c.218C>T (p.Thr73Ile) SNV Uncertain significance 655977 rs377555060 4:128865128-128865128 4:127943973-127943973

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 11.33 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 lysosomal membrane GO:0005765 9.7 MFSD8 DNAJC5 CTSD CLN5 CLN3 CLCN6
2 membrane raft GO:0045121 9.65 TPP1 PPT1 CTSD CLN6 CLN3
3 synaptic vesicle GO:0008021 9.54 PPT1 DNAJC5 CLN3
4 melanosome GO:0042470 9.5 TPP1 DNAJC5 CTSD
5 lysosomal lumen GO:0043202 9.43 TPP1 SGSH PPT1 CTSF CTSD ATP13A2
6 lysosome GO:0005764 9.28 TPP1 SGSH PPT1 MFSD8 CTSF CTSD

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.73 PPT1 CLN8 CLN6
2 negative regulation of neuron apoptotic process GO:0043524 9.7 PPT1 DNAJC5 CLN3
3 neuromuscular process controlling balance GO:0050885 9.58 TPP1 CLN8 CLN3
4 autophagosome maturation GO:0097352 9.55 MFSD8 CLN3
5 negative regulation of proteolysis GO:0045861 9.54 CLN8 CLN3
6 cellular protein catabolic process GO:0044257 9.51 PPT1 CLN8
7 associative learning GO:0008306 9.5 PPT1 CLN8 CLN3
8 glycosaminoglycan metabolic process GO:0030203 9.49 SGSH CLN6
9 lysosomal protein catabolic process GO:1905146 9.48 TPP1 CLN3
10 autophagosome-lysosome fusion GO:0061909 9.46 CLN3 ATP13A2
11 lysosomal lumen acidification GO:0007042 9.46 PPT1 CLN6 CLN5 CLN3
12 positive regulation of pinocytosis GO:0048549 9.43 PPT1 CLN3
13 cellular macromolecule catabolic process GO:0044265 9.43 PPT1 CLN8 CLN6
14 regulation of lysosomal protein catabolic process GO:1905165 9.37 MFSD8 ATP13A2
15 protein catabolic process GO:0030163 9.35 TPP1 PPT1 CLN8 CLN6 CLN5
16 lysosome organization GO:0007040 9.17 TPP1 PPT1 MFSD8 CLN8 CLN6 CLN5

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

# Name GO ID Score Top Affiliating Genes
1 lysophosphatidic acid binding GO:0035727 9.13 TPP1 PPT1 CLN6
2 sulfatide binding GO:0120146 8.92 TPP1 PPT1 CLN6 CLN3

Sources for Ceroid Lipofuscinosis, Neuronal, 7

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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