MCID: CRD179
MIFTS: 40

Ceroid Lipofuscinosis, Neuronal, 7

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 7

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 7:

Name: Ceroid Lipofuscinosis, Neuronal, 7 54 71 13 69
Neuronal Ceroid Lipofuscinosis 7 12 50 24 14
Cln7 Disease 50 24 25 56
Cln7 12 50 25 71
Cln7 Disease, Late Infantile 50 25
Mfsd8-Related Neuronal Ceroid-Lipofuscinosis 24
Mfsd8-Related Neuronal Ceroid Lipofuscinosis 25
Turkish Variant Late Infantile Ncl 71
Ceroid Lipofuscinosis Neuronal 7 29
Turkish Variant Late Infantile 24

Characteristics:

Orphanet epidemiological data:

56
cln7 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

54
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:
Onset and clinical course rapidly progressive juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ceroid Lipofuscinosis, Neuronal, 7

NIH Rare Diseases : 50 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. last updated: 9/2/2015

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 7, also known as neuronal ceroid lipofuscinosis 7, is related to ceroid lipofuscinosis, neuronal, 1 and ceroid lipofuscinosis, neuronal, 8, and has symptoms including optic atrophy, ataxia and cerebral atrophy. 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. Related phenotypes are behavior/neurological and nervous system

UniProtKB/Swiss-Prot : 71 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.

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.

OMIM : 54
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)

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.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 7

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 2 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 6 Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 11 Ceroid Lipofuscinosis, Neuronal, 9
Neuronal Ceroid Lipofuscinosis 4a Adult Neuronal Ceroid Lipofuscinosis

Diseases related to Ceroid Lipofuscinosis, Neuronal, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
id Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 1 27.9 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
2 ceroid lipofuscinosis, neuronal, 8 11.2
3 neuronal ceroid lipofuscinosis 10.1
4 neuronitis 10.1
5 retinitis 9.8
6 retinal degeneration 9.8
7 urinary schistosomiasis 9.6 CLN6 CLN8 MFSD8
8 esophagus liposarcoma 9.5 CLN6 CLN8 MFSD8
9 congenital vascular cavernous malformations 9.5 CLN6 DNAJC5
10 cngb3-related stargardt disease 1 9.4 CLN6 DNAJC5
11 retinal degeneration, late-onset, autosomal dominant 9.2 CLN6 CLN8 DNAJC5
12 joubert syndrome 26 9.2 CLN5 CLN6 PPT1
13 adult-onset nemaline myopathy 9.2 CLN6 DNAJC5 PPT1
14 microcephaly 1, primary, autosomal recessive 9.1 CLN5 CLN6 CLN8 MFSD8
15 uterine corpus cancer 8.9 CLN5 CLN6 PPT1
16 mental retardation, autosomal dominant 24 8.6 CLN5 CLN6 CLN8 DNAJC5
17 diarrhea, chronic, with villous atrophy 8.3 CLN5 CLN6 CLN8 DNAJC5 MFSD8
18 macular dystrophy with central cone involvement 7.8 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
19 spinocerebellar ataxia, autosomal recessive 7 7.8 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
20 glanzmann thrombasthenia 7.8 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
21 glans penis cancer 7.8 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
22 kashin-beck disease 7.7 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
23 partial arterial retinal occlusion 7.7 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
delayed psychomotor development
ataxia
eeg abnormalities
cerebral atrophy
delayed speech development
more
Head And Neck- Eyes:
optic atrophy
blindness
retinopathy
loss of vision, progressive


Clinical features from OMIM:

610951

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 7:

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

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 7:


ataxia

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 CLN6 CLN8 DNAJC5 MFSD8 PPT1
2 nervous system MP:0003631 9.63 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
3 pigmentation MP:0001186 9.13 CLN8 MFSD8 PPT1
4 vision/eye MP:0005391 9.1 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 7

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis Recruiting NCT03307304

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 7

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 7

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 7:

id Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 7 29
2 Cln7 Disease 24 MFSD8

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 7

Publications for Ceroid Lipofuscinosis, Neuronal, 7

Variations for Ceroid Lipofuscinosis, Neuronal, 7

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

71 (show all 15)
id 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
10 MFSD8 p.Thr160Ile VAR_066915
11 MFSD8 p.Thr160Asn VAR_066916
12 MFSD8 p.Thr458Lys VAR_066917
13 MFSD8 p.Arg465Gln VAR_066918
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 all 13)
id 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.1286G> A (p.Gly429Asp) single nucleotide variant Pathogenic rs118203976 GRCh37 Chromosome 4, 128842743: 128842743
3 MFSD8 NM_152778.2(MFSD8): c.894T> G (p.Tyr298Ter) single nucleotide variant Pathogenic rs118203977 GRCh37 Chromosome 4, 128851942: 128851942
4 MFSD8 NM_152778.2(MFSD8): c.362A> G (p.Tyr121Cys) single nucleotide variant Pathogenic rs118203978 GRCh37 Chromosome 4, 128864984: 128864984
5 MFSD8 NM_152778.2(MFSD8): c.1235C> T (p.Pro412Leu) single nucleotide variant Pathogenic rs267607235 GRCh37 Chromosome 4, 128842794: 128842794
6 MFSD8 NM_152778.2(MFSD8): c.881C> A (p.Thr294Lys) single nucleotide variant Pathogenic rs140948465 GRCh37 Chromosome 4, 128851955: 128851955
7 MFSD8 MFSD8, 2-BP DEL/2-BP INS indel Pathogenic
8 MFSD8 NM_152778.2(MFSD8): c.754+2T> A single nucleotide variant Pathogenic rs587778809 GRCh37 Chromosome 4, 128859936: 128859936
9 MFSD8 NM_152778.2(MFSD8): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs724159970 GRCh38 Chromosome 4, 127921733: 127921733
10 MFSD8 NM_152778.2(MFSD8): c.1102G> C (p.Asp368His) single nucleotide variant Pathogenic rs727502800 GRCh38 Chromosome 4, 127921860: 127921860
11 MFSD8 NM_152778.2(MFSD8): c.863+3_863+4insT insertion Pathogenic rs727502801 GRCh37 Chromosome 4, 128854136: 128854137
12 MFSD8 NM_152778.2(MFSD8): c.1444C> T (p.Arg482Ter) single nucleotide variant Pathogenic rs724159971 GRCh37 Chromosome 4, 128841898: 128841898
13 MFSD8 NM_152778.2(MFSD8): c.416G> A (p.Arg139His) single nucleotide variant Pathogenic rs749704755 GRCh37 Chromosome 4, 128864930: 128864930

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:

id Super pathways Score Top Affiliating Genes
1 10.89 CLN5 MFSD8 PPT1

GO Terms for Ceroid Lipofuscinosis, Neuronal, 7

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

id Name GO ID Score Top Affiliating Genes
1 synaptic vesicle GO:0008021 9.16 DNAJC5 PPT1
2 lysosome GO:0005764 9.13 CLN5 MFSD8 PPT1
3 lysosomal membrane GO:0005765 8.8 CLN5 DNAJC5 MFSD8

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.43 DNAJC5 PPT1
2 cholesterol metabolic process GO:0008203 9.4 CLN6 CLN8
3 neuron development GO:0048666 9.37 MFSD8 PPT1
4 lysosome organization GO:0007040 9.33 CLN6 MFSD8 PPT1
5 neurotransmitter secretion GO:0007269 9.32 DNAJC5 PPT1
6 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
7 lysosomal lumen acidification GO:0007042 9.13 CLN5 CLN6 PPT1
8 protein catabolic process GO:0030163 8.92 CLN5 CLN6 CLN8 PPT1

Sources for Ceroid Lipofuscinosis, Neuronal, 7

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16 ExPASy
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30 HGMD
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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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