Aliases & Classifications for Syne1 Deficiency

MalaCards integrated aliases for Syne1 Deficiency:

Name: Syne1 Deficiency 24

Summaries for Syne1 Deficiency

MalaCards based summary : Syne1 Deficiency is related to ataxia and polyneuropathy, adult-onset and aceruloplasminemia. An important gene associated with Syne1 Deficiency is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1). Affiliated tissues include skeletal muscle.

GeneReviews: NBK1379

Related Diseases for Syne1 Deficiency

Diseases related to Syne1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.0
2 aceruloplasminemia 10.0
3 spinocerebellar ataxia, autosomal recessive 8 10.0
4 alacrima, achalasia, and mental retardation syndrome 10.0
5 alkuraya-kucinskas syndrome 10.0
6 distal arthrogryposis 10.0
7 autosomal recessive cerebellar ataxia 10.0
8 clubfoot 10.0
9 dysphagia 10.0
10 hypotonia 10.0
11 spasticity 10.0
12 congenital amyoplasia 10.0

Graphical network of the top 20 diseases related to Syne1 Deficiency:



Diseases related to Syne1 Deficiency

Symptoms & Phenotypes for Syne1 Deficiency

Drugs & Therapeutics for Syne1 Deficiency

Search Clinical Trials , NIH Clinical Center for Syne1 Deficiency

Genetic Tests for Syne1 Deficiency

Anatomical Context for Syne1 Deficiency

MalaCards organs/tissues related to Syne1 Deficiency:

41
Skeletal Muscle

Publications for Syne1 Deficiency

Articles related to Syne1 Deficiency:

(show all 31)
# Title Authors PMID Year
1
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. 4
29915382 2019
2
The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells. 4
29630990 2018
3
The genetic nomenclature of recessive cerebellar ataxias. 4
29756227 2018
4
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. 4
29482223 2018
5
Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. 4
29440566 2018
6
The cerebellar cognitive affective/Schmahmann syndrome scale. 4
29206893 2018
7
Scales for the clinical evaluation of cerebellar disorders. 4
29903450 2018
8
SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. 4
28687974 2017
9
Nesprin 1α2 is essential for mouse postnatal viability and nuclear positioning in skeletal muscle. 4
28533284 2017
10
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like. 4
28583108 2017
11
Successful neuropsychological rehabilitation in a patient with Cerebellar Cognitive Affective Syndrome. 4
27049666 2017
12
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways. 4
28195350 2017
13
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. 4
27782104 2017
14
Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family. 4
28017257 2017
15
A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8. 4
29081981 2017
16
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. 4
27197992 2016
17
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. 4
27086870 2016
18
A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I. 4
25843669 2015
19
Therapies for ataxias. 4
24832479 2014
20
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 4
24418350 2014
21
Nesprins: tissue-specific expression of epsilon and other short isoforms. 4
24718612 2014
22
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. 4
23325900 2013
23
Arthrogryposis and fetal hypomobility syndrome. 4
23622356 2013
24
LINC complexes form by binding of three KASH peptides to domain interfaces of trimeric SUN proteins. 4
22632968 2012
25
Multiple novel nesprin-1 and nesprin-2 variants act as versatile tissue-specific intracellular scaffolds. 4
22768332 2012
26
Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome. 4
20559786 2010
27
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. 4
19542096 2009
28
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. 4
17761684 2007
29
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. 4
17503513 2007
30
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. 4
17159980 2007
31
SYNE1 Deficiency 38
20301553 2007

Variations for Syne1 Deficiency

Expression for Syne1 Deficiency

Search GEO for disease gene expression data for Syne1 Deficiency.

Pathways for Syne1 Deficiency

GO Terms for Syne1 Deficiency

Sources for Syne1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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