CLN7
MCID: CRD040
MIFTS: 15

Ceroid Lipofuscinosis Neuronal 7 (CLN7) malady

Neuronal, Metabolic categories

Summaries for Ceroid Lipofuscinosis Neuronal 7

Sources:
47OMIM, 33MalaCards
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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:47 610951

Aliases & Classifications for Ceroid Lipofuscinosis Neuronal 7

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 61UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


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 61
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

Clinical Features for Ceroid Lipofuscinosis Neuronal 7

Sources:
47OMIM
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Clinical features from OMIM:

610951

Clinical synopsis from OMIM:

610951

Drugs & Therapeutics for Ceroid Lipofuscinosis Neuronal 7

Sources:
5CenterWatch, 42NIH 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

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

Animal Models for Ceroid Lipofuscinosis Neuronal 7 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Ceroid Lipofuscinosis Neuronal 7

Sources:
51PubMed
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Articles related to Ceroid Lipofuscinosis Neuronal 7:

idTitleAuthorsYear
1
A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis. (23857568)
2013

Genetic Variations for Ceroid Lipofuscinosis Neuronal 7

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Ceroid Lipofuscinosis Neuronal 7:

63 (show all 14)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Ceroid Lipofuscinosis Neuronal 7

GO Terms for genes affiliated with Ceroid Lipofuscinosis Neuronal 7

Products for genes affiliated with Ceroid Lipofuscinosis Neuronal 7

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ceroid Lipofuscinosis Neuronal 7

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet