CLN7
MCID: CRD040
MIFTS: 25

Ceroid Lipofuscinosis Neuronal 7 (CLN7) malady

Neuronal diseases, Metabolic diseases categories

Summaries for Ceroid Lipofuscinosis Neuronal 7

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Sources:
46OMIM, 32MalaCards
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MalaCards: Ceroid Lipofuscinosis Neuronal 7, is also known as ceroid lipofuscinosis, neuronal, 7 An important gene associated with Ceroid Lipofuscinosis Neuronal 7 is MFSD8 (major facilitator superfamily domain containing 8).

Description from OMIM:46 610951

Aliases & Classifications for Ceroid Lipofuscinosis Neuronal 7

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
cln7 disease:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

ceroid lipofuscinosis neuronal 7 42
ceroid lipofuscinosis, neuronal, 7 46 60
neuronal ceroid lipofuscinosis 7 42 22
cln7 42 20
cln7 disease 48


External Ids:

OMIM46 610951
ICD10 via Orphanet26 E75.4

Related Diseases for Ceroid Lipofuscinosis Neuronal 7

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Clinical Features for Ceroid Lipofuscinosis Neuronal 7

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Sources:
46OMIM
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Clinical features from OMIM:

610951

Clinical synopsis from OMIM:

610951

Drugs & Therapeutics for Ceroid Lipofuscinosis Neuronal 7

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ceroid Lipofuscinosis Neuronal 7

Drug clinical trials:

Search ClinicalTrials for Ceroid Lipofuscinosis Neuronal 7

Search NIH Clinical Center for Ceroid Lipofuscinosis Neuronal 7

Search CenterWatch for Ceroid Lipofuscinosis Neuronal 7

Genetic Tests for Ceroid Lipofuscinosis Neuronal 7

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Sources:
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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Genetic Variations for Ceroid Lipofuscinosis Neuronal 7

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Ceroid Lipofuscinosis Neuronal 7:

62 (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

Expression for genes affiliated with Ceroid Lipofuscinosis Neuronal 7

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet