MCID: BSC002

Bscl2-Related Neurologic Disorders/seipinopathy malady

Categories: Genetic diseases (common), Neuronal diseases

Aliases & Classifications for Bscl2-Related Neurologic Disorders/seipinopathy

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Aliases & Descriptions for Bscl2-Related Neurologic Disorders/seipinopathy:

Name: Bscl2-Related Neurologic Disorders/seipinopathy 23 24

Characteristics:

GeneReviews:

23
Penetrance: reduced penetrance for bscl2-related neurologic disorders has been shown by patel et al [2001] and windpassinger et al [2003]. a detailed genotype-phenotype correlation study in 90 individuals with the p.asn88ser mutation demonstrated that 24.4% of individuals with the mutation remained asymptomatic (subtype 1) or were only subclinically affected (subtype 2) [auer-grumbach et al 2005]...


Classifications:



Summaries for Bscl2-Related Neurologic Disorders/seipinopathy

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MalaCards based summary: Bscl2-Related Neurologic Disorders/seipinopathy is related to ceroid lipofuscinosis, neuronal, 13, kufs type and encephalopathy, progressive, with or without lipodystrophy. An important gene associated with Bscl2-Related Neurologic Disorders/seipinopathy is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated).

GeneReviews for NBK1307

Related Diseases for Bscl2-Related Neurologic Disorders/seipinopathy

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Graphical network of diseases related to Bscl2-Related Neurologic Disorders/seipinopathy:



Diseases related to bscl2-related neurologic disorders/seipinopathy

Symptoms & Phenotypes for Bscl2-Related Neurologic Disorders/seipinopathy

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Drugs & Therapeutics for Bscl2-Related Neurologic Disorders/seipinopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Bscl2-Related Neurologic Disorders/seipinopathy

Genetic Tests for Bscl2-Related Neurologic Disorders/seipinopathy

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Genetic tests related to Bscl2-Related Neurologic Disorders/seipinopathy:

id Genetic test Affiliating Genes
1 Bscl2-Related Neurologic Disorders/seipinopathy24 BSCL2

Anatomical Context for Bscl2-Related Neurologic Disorders/seipinopathy

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Publications for Bscl2-Related Neurologic Disorders/seipinopathy

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Articles related to Bscl2-Related Neurologic Disorders/seipinopathy:

idTitleAuthorsYear
1
BSCL2-Related Neurologic Disorders/Seipinopathy (20301484)
1993

Variations for Bscl2-Related Neurologic Disorders/seipinopathy

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Expression for genes affiliated with Bscl2-Related Neurologic Disorders/seipinopathy

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Search GEO for disease gene expression data for Bscl2-Related Neurologic Disorders/seipinopathy.

Pathways for genes affiliated with Bscl2-Related Neurologic Disorders/seipinopathy

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GO Terms for genes affiliated with Bscl2-Related Neurologic Disorders/seipinopathy

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Sources for Bscl2-Related Neurologic Disorders/seipinopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet