MCID: GNT176
MIFTS: 10

Genetic Motor Neuron Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Genetic Motor Neuron Disease

MalaCards integrated aliases for Genetic Motor Neuron Disease:

Name: Genetic Motor Neuron Disease 59 6
Genetic Anterior Horn Cell Disease 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA98505

Summaries for Genetic Motor Neuron Disease

MalaCards based summary : Genetic Motor Neuron Disease, is also known as genetic anterior horn cell disease. An important gene associated with Genetic Motor Neuron Disease is DCTN1 (Dynactin Subunit 1).

Related Diseases for Genetic Motor Neuron Disease

Symptoms & Phenotypes for Genetic Motor Neuron Disease

Drugs & Therapeutics for Genetic Motor Neuron Disease

Search Clinical Trials , NIH Clinical Center for Genetic Motor Neuron Disease

Genetic Tests for Genetic Motor Neuron Disease

Anatomical Context for Genetic Motor Neuron Disease

Publications for Genetic Motor Neuron Disease

Articles related to Genetic Motor Neuron Disease:

# Title Authors PMID Year
1
Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients. 38
30460449 2019
2
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. 38
27499521 2016
3
Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis. 38
22094924 2012
4
A clinical and genetic study of chronic proximal spinal muscular atrophy. 38
1182487 1975

Variations for Genetic Motor Neuron Disease

ClinVar genetic disease variations for Genetic Motor Neuron Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DCTN1 NM_004082.4(DCTN1): c.175G> A (p.Gly59Ser) single nucleotide variant Pathogenic rs121909342 2:74605231-74605231 2:74378104-74378104
2 PLEKHG5 NM_020631.5(PLEKHG5): c.1940T> C (p.Phe647Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs63750315 1:6529504-6529504 1:6469444-6469444
3 DCTN1 NM_004082.4(DCTN1): c.2054T> G (p.Val685Gly) single nucleotide variant Uncertain significance 2:74594953-74594953 2:74367826-74367826
4 GARS1 NM_002047.4(GARS1): c.998A> G (p.Glu333Gly) single nucleotide variant Uncertain significance 7:30651828-30651828 7:30612212-30612212
5 SETX NM_015046.7(SETX): c.6052A> G (p.Lys2018Glu) single nucleotide variant Uncertain significance 9:135171313-135171313 9:132295926-132295926
6 DYNC1H1 NM_001376.5(DYNC1H1): c.3179T> C (p.Leu1060Ser) single nucleotide variant Uncertain significance 14:102461032-102461032 14:101994695-101994695

Expression for Genetic Motor Neuron Disease

Search GEO for disease gene expression data for Genetic Motor Neuron Disease.

Pathways for Genetic Motor Neuron Disease

GO Terms for Genetic Motor Neuron Disease

Sources for Genetic Motor Neuron Disease

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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