MCID: BSC002
MIFTS: 8

Bscl2-Related Neurologic Disorders/seipinopathy malady

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Bscl2-Related Neurologic Disorders/seipinopathy

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

MalaCards based summary : Bscl2-Related Neurologic Disorders/seipinopathy is related to cdc73-related disorders and genetic atypical hemolytic-uremic syndrome. An important gene associated with Bscl2-Related Neurologic Disorders/seipinopathy is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated).

GeneReviews: NBK1307

Related Diseases for Bscl2-Related Neurologic Disorders/seipinopathy

Diseases related to Bscl2-Related Neurologic Disorders/seipinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cdc73-related disorders 9.9 BSCL2 GARS
2 genetic atypical hemolytic-uremic syndrome 9.9 BSCL2 GARS
3 guttmacher syndrome 9.8 BSCL2 GARS
4 charcot-marie-tooth disease, type 2j 9.8 BSCL2 GARS
5 ednrb-related hirschsprung disease 9.8 BSCL2 GARS
6 ovarian stromal hyperthecosis 9.7 BSCL2 GARS

Graphical network of the top 20 diseases related to Bscl2-Related Neurologic Disorders/seipinopathy:



Diseases related to Bscl2-Related Neurologic Disorders/seipinopathy

Symptoms & Phenotypes for Bscl2-Related Neurologic Disorders/seipinopathy

Drugs & Therapeutics for Bscl2-Related Neurologic Disorders/seipinopathy

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

Genetic Tests for Bscl2-Related Neurologic Disorders/seipinopathy

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

id Genetic test Affiliating Genes
1 Bscl2-Related Neurologic Disorders/seipinopathy 24 BSCL2

Anatomical Context for Bscl2-Related Neurologic Disorders/seipinopathy

Publications for Bscl2-Related Neurologic Disorders/seipinopathy

Articles related to Bscl2-Related Neurologic Disorders/seipinopathy:

id Title Authors Year
1
BSCL2-Related Neurologic Disorders/Seipinopathy ( 20301484 )
1993

Variations for Bscl2-Related Neurologic Disorders/seipinopathy

Expression for Bscl2-Related Neurologic Disorders/seipinopathy

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

Pathways for Bscl2-Related Neurologic Disorders/seipinopathy

GO Terms for Bscl2-Related Neurologic Disorders/seipinopathy

Sources for Bscl2-Related Neurologic Disorders/seipinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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