MCID: BSC002
MIFTS: 10

Bscl2-Related Neurologic Disorders/seipinopathy malady

Neuronal diseases category

Summaries for Bscl2-Related Neurologic Disorders/seipinopathy

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19GeneReviews, 32MalaCards
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MalaCards: Bscl2-Related Neurologic Disorders/seipinopathy is related to neuropathy and distal hereditary motor neuropathy. An important gene associated with Bscl2-Related Neurologic Disorders/seipinopathy is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)).

GeneReviews summary for spg17

Aliases & Classifications for Bscl2-Related Neurologic Disorders/seipinopathy

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19GeneReviews, 20GeneTests
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Classifications:

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


Aliases & Descriptions:

bscl2-related neurologic disorders/seipinopathy 19 20


Related Diseases for Bscl2-Related Neurologic Disorders/seipinopathy

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Bscl2-Related Neurologic Disorders/seipinopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1neuropathy10.0GARS
2distal hereditary motor neuropathy10.0GARS
3neuropathy, distal hereditary motor, type va10.0BSCL2, GARS

Clinical Features for Bscl2-Related Neurologic Disorders/seipinopathy

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Drugs & Therapeutics for Bscl2-Related Neurologic Disorders/seipinopathy

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

Search CenterWatch for Bscl2-Related Neurologic Disorders/seipinopathy

Drug clinical trials:

Search ClinicalTrials for Bscl2-Related Neurologic Disorders/seipinopathy

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

Search CenterWatch for Bscl2-Related Neurologic Disorders/seipinopathy

Genetic Tests for Bscl2-Related Neurologic Disorders/seipinopathy

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20GeneTests
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Genetic tests related to Bscl2-Related Neurologic Disorders/seipinopathy:

id Genetic test Affiliating Genes
1 Bscl2-Related Neurologic Disorders/seipinopathy20 BSCL2

Anatomical Context for Bscl2-Related Neurologic Disorders/seipinopathy

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Animal Models for Bscl2-Related Neurologic Disorders/seipinopathy or affiliated genes

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Publications for Bscl2-Related Neurologic Disorders/seipinopathy

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Sources:
50PubMed
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Articles related to Bscl2-Related Neurologic Disorders/seipinopathy:

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

Genetic 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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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bscl2-Related Neurologic Disorders/seipinopathy

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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Compounds 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:
16Gene Ontology
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Biological processes related to Bscl2-Related Neurologic Disorders/seipinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082199.1BSCL2, GARS

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bscl2-Related Neurologic Disorders/seipinopathy

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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