MCID: BSC002
MIFTS: 10

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 spastic paraplegia 17, autosomal dominant and neuronopathy, distal hereditary motor, type va. 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

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. 24
26656846 2016
2
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy. 24
26815532 2016
3
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. 24
23142943 2013
4
N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress. 24
21750110 2011
5
Seipin, adipogenesis and lipid droplets. 24
21497513 2011
6
Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs. 24
20806400 2010
7
Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2. 24
19323790 2009
8
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 24
18790819 2009
9
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. 24
18325928 2008
10
Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 24
17387721 2007
11
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 24
15732094 2005
12
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. 24
15242882 2004
13
Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. 24
13680364 2003
14
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. 24
11389484 2001
15
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study. 24
10908191 2000
16
Familial spastic paraplegia with amyotrophy of the hands. 24
5964029 1966
17
[BSCL2-related neurologic disorders/seipinopathy: endoplasmic reticulum stress in neurodegeneration]. 61
22277529 2011
18
BSCL2-Related Neurologic Disorders/Seipinopathy 61
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....