CLN7
MCID: CRD040
MIFTS: 25

Ceroid Lipofuscinosis Neuronal 7 (CLN7) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories
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Summaries for Ceroid Lipofuscinosis Neuronal 7

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Sources:
47OMIM, 33MalaCards
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MalaCards: Ceroid Lipofuscinosis Neuronal 7, also known as ceroid lipofuscinosis, neuronal, 7, is related to neuronitis and neuronal ceroid lipofuscinosis. An important gene associated with Ceroid Lipofuscinosis Neuronal 7 is MFSD8 (major facilitator superfamily domain containing 8).

Description from OMIM:47 610951

Aliases & Classifications for Ceroid Lipofuscinosis Neuronal 7

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

49
cln7 disease:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

ceroid lipofuscinosis neuronal 7 43
ceroid lipofuscinosis, neuronal, 7 47 62
neuronal ceroid lipofuscinosis 7 43 22
cln7 43 20
cln7 disease 49


External Ids:

OMIM47 610951
ICD10 via Orphanet26 E75.4

Related Diseases for Ceroid Lipofuscinosis Neuronal 7

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17GeneCards, 18GeneDecks
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Symptoms for Ceroid Lipofuscinosis Neuronal 7

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47OMIM
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Symptoms by clinical synopsis from OMIM:

610951

Clinical features from OMIM:

610951

Drugs & Therapeutics for Ceroid Lipofuscinosis Neuronal 7

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Ceroid Lipofuscinosis Neuronal 7

Search NIH Clinical Center for Ceroid Lipofuscinosis Neuronal 7

Genetic Tests for Ceroid Lipofuscinosis Neuronal 7

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20GeneTests, 22GTR
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Genetic tests related to Ceroid Lipofuscinosis Neuronal 7:

id Genetic test Affiliating Genes
1 Cln7 Disease20 MFSD8
2 Ceroid Lipofuscinosis Neuronal 722

Anatomical Context for Ceroid Lipofuscinosis Neuronal 7

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Animal Models for Ceroid Lipofuscinosis Neuronal 7 or affiliated genes

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Publications for Ceroid Lipofuscinosis Neuronal 7

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Variations for Ceroid Lipofuscinosis Neuronal 7

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis Neuronal 7:

64 (show all 14)
id Symbol AA change Variation ID SNP ID
1MFSD8p.Gly310AspVAR_037177
2MFSD8p.Gly429AspVAR_037180
3MFSD8p.Gly52ArgVAR_058427
4MFSD8p.Tyr121CysVAR_058428
5MFSD8p.Arg139HisVAR_058429
6MFSD8p.Ala157ProVAR_058430
7MFSD8p.Thr294LysVAR_058431
8MFSD8p.Pro447LeuVAR_058432
9MFSD8p.Arg465TrpVAR_058433
10MFSD8p.Thr160IleVAR_066915
11MFSD8p.Thr160AsnVAR_066916
12MFSD8p.Thr458LysVAR_066917
13MFSD8p.Arg465GlnVAR_066918
14MFSD8p.Met470ValVAR_066919

Clinvar genetic disease variations for Ceroid Lipofuscinosis Neuronal 7:

1
id Gene Name Type Significance SNP ID Assembly Location
1MFSD8NM_152778.2(MFSD8): c.929G> A (p.Gly310Asp)single nucleotide variantPathogenicrs118203975GRCh37Chr 4, 128851907: 128851907
2MFSD8NM_152778.2(MFSD8): c.1286G> A (p.Gly429Asp)single nucleotide variantPathogenicrs118203976GRCh37Chr 4, 128842743: 128842743
3MFSD8NM_152778.2(MFSD8): c.894T> G (p.Tyr298Ter)single nucleotide variantPathogenicrs118203977GRCh37Chr 4, 128851942: 128851942
4MFSD8NM_152778.2(MFSD8): c.362A> G (p.Tyr121Cys)single nucleotide variantPathogenicrs118203978GRCh37Chr 4, 128864984: 128864984
5MFSD8NM_152778.2(MFSD8): c.1235C> T (p.Pro412Leu)single nucleotide variantPathogenicrs267607235GRCh37Chr 4, 128842794: 128842794
6MFSD8NM_152778.2(MFSD8): c.881C> A (p.Thr294Lys)single nucleotide variantPathogenicrs140948465GRCh37Chr 4, 128851955: 128851955
7MFSD8MFSD8, 2-BP DEL/2-BP INSindelPathogenic
8MFSD8NM_152778.2(MFSD8): c.754+2T> Asingle nucleotide variantPathogenicGRCh37Chr 4, 128859936: 128859936

Expression for genes affiliated with Ceroid Lipofuscinosis Neuronal 7

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ceroid Lipofuscinosis Neuronal 7

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

Pathways for genes affiliated with Ceroid Lipofuscinosis Neuronal 7

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Compounds for genes affiliated with Ceroid Lipofuscinosis Neuronal 7

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GO Terms for genes affiliated with Ceroid Lipofuscinosis Neuronal 7

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Products for genes affiliated with Ceroid Lipofuscinosis Neuronal 7

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ceroid Lipofuscinosis Neuronal 7

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet