MCID: BSC002
MIFTS: 9

Bscl2-Related Neurologic Disorders/seipinopathy

Categories: Neuronal diseases

Aliases & Classifications for Bscl2-Related Neurologic Disorders/seipinopathy

MalaCards integrated aliases for Bscl2-Related Neurologic Disorders/seipinopathy:

Name: Bscl2-Related Neurologic Disorders/seipinopathy 24

Characteristics:

GeneReviews:

24
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 pathogenic variant demonstrated that 24.4% of individuals with the variant 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 paraplegia and spastic paraplegia 17. An important gene associated with Bscl2-Related Neurologic Disorders/seipinopathy is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin).

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:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 paraplegia 10.6
2 spastic paraplegia 17 10.6
3 amyotrophic lateral sclerosis 1 10.4
4 hypertriglyceridemia, familial 10.4
5 lipodystrophy, congenital generalized, type 2 10.4
6 spastic paraplegia 17, autosomal dominant 10.4
7 neuronopathy, distal hereditary motor, type va 10.4
8 encephalopathy, progressive, with or without lipodystrophy 10.4
9 congenital generalized lipodystrophy 10.4
10 lateral sclerosis 10.4
11 motor neuron disease 10.4
12 muscular atrophy 10.4
13 spasticity 10.4

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

Anatomical Context for Bscl2-Related Neurologic Disorders/seipinopathy

Publications for Bscl2-Related Neurologic Disorders/seipinopathy

Articles related to Bscl2-Related Neurologic Disorders/seipinopathy:

(show all 18)
# Title Authors PMID Year
1
Timing, rates and spectra of human germline mutation. 4
26656846 2016
2
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy. 4
26815532 2016
3
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. 4
23142943 2013
4
N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress. 4
21750110 2011
5
Seipin, adipogenesis and lipid droplets. 4
21497513 2011
6
Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs. 4
20806400 2010
7
Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2. 4
19323790 2009
8
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 4
18790819 2009
9
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. 4
18325928 2008
10
Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 4
17387721 2007
11
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 4
15732094 2005
12
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. 4
15242882 2004
13
Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. 4
13680364 2003
14
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. 4
11389484 2001
15
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study. 4
10908191 2000
16
Familial spastic paraplegia with amyotrophy of the hands. 4
5964029 1966
17
[BSCL2-related neurologic disorders/seipinopathy: endoplasmic reticulum stress in neurodegeneration]. 38
22277529 2011
18
BSCL2-Related Neurologic Disorders/Seipinopathy 38
20301484 2005

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

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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