MCID: GNT176
MIFTS: 22

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 58 6
Genetic Anterior Horn Cell Disease 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA98505

Summaries for Genetic Motor Neuron Disease

MalaCards based summary : Genetic Motor Neuron Disease, also known as genetic anterior horn cell disease, is related to amyotrophic lateral sclerosis 7 and lateral sclerosis. An important gene associated with Genetic Motor Neuron Disease is DCTN1 (Dynactin Subunit 1), and among its related pathways/superpathways are MHC class II antigen presentation and Cell cycle_Spindle assembly and chromosome separation. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Genetic Motor Neuron Disease

Graphical network of the top 20 diseases related to Genetic Motor Neuron Disease:



Diseases related to Genetic Motor Neuron Disease

Symptoms & Phenotypes for Genetic Motor Neuron Disease

GenomeRNAi Phenotypes related to Genetic Motor Neuron Disease according to GeneCards Suite gene sharing:

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 GARS1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.72 GARS1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.72 DCTN1 GARS1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.72 DCTN1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.72 GARS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.72 GARS1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.72 DCTN1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.72 DCTN1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.72 GARS1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.72 GARS1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.72 GARS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.72 GARS1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.72 GARS1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.72 DCTN1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.72 GARS1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.72 GARS1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.72 GARS1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 DCTN1 GARS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.72 GARS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.72 GARS1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.72 DCTN1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 DCTN1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.72 GARS1

MGI Mouse Phenotypes related to Genetic Motor Neuron Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 DCTN1 DYNC1H1 GARS1 PLEKHG5

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
CSF transplantation of a specific iPSC-derived neural stem cell subpopulation ameliorates the disease phenotype in a mouse model of spinal muscular atrophy with respiratory distress type 1. 61
31445043 2019
2
Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients. 61
30460449 2019
3
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. 61
27499521 2016
4
Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis. 61
22094924 2012
5
A clinical and genetic study of chronic proximal spinal muscular atrophy. 61
1182487 1975

Variations for Genetic Motor Neuron Disease

ClinVar genetic disease variations for Genetic Motor Neuron Disease:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DCTN1 NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser)SNV Pathogenic 8401 rs121909342 2:74605231-74605231 2:74378104-74378104
2 PLEKHG5 NM_020631.5(PLEKHG5):c.1940T>C (p.Phe647Ser)SNV Conflicting interpretations of pathogenicity 1019 rs63750315 1:6529504-6529504 1:6469444-6469444
3 DCTN1 NM_004082.4(DCTN1):c.2054T>G (p.Val685Gly)SNV Uncertain significance 637068 2:74594953-74594953 2:74367826-74367826
4 GARS1 NM_002047.4(GARS1):c.998A>G (p.Glu333Gly)SNV Uncertain significance 637107 7:30651828-30651828 7:30612212-30612212
5 SETX NM_015046.7(SETX):c.6052A>G (p.Lys2018Glu)SNV Uncertain significance 637405 9:135171313-135171313 9:132295926-132295926
6 DYNC1H1 NM_001376.5(DYNC1H1):c.3179T>C (p.Leu1060Ser)SNV Uncertain significance 637077 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

Pathways related to Genetic Motor Neuron Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.27 DYNC1H1 DCTN1
2 11.13 DYNC1H1 DCTN1
3 10.6 DYNC1H1 DCTN1
4 10.07 DYNC1H1 DCTN1

GO Terms for Genetic Motor Neuron Disease

Cellular components related to Genetic Motor Neuron Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 9.26 DYNC1H1 DCTN1
2 intercellular bridge GO:0045171 9.16 SETX DCTN1
3 axon GO:0030424 9.13 SETX GARS1 DCTN1
4 dynein complex GO:0030286 8.62 DYNC1H1 DCTN1

Biological processes related to Genetic Motor Neuron Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitotic cell cycle GO:0000278 9.37 DYNC1H1 DCTN1
2 G2/M transition of mitotic cell cycle GO:0000086 9.32 DYNC1H1 DCTN1
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.26 DYNC1H1 DCTN1
4 ciliary basal body-plasma membrane docking GO:0097711 9.16 DYNC1H1 DCTN1
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.96 DYNC1H1 DCTN1
6 regulation of mitotic spindle organization GO:0060236 8.62 DYNC1H1 DCTN1

Molecular functions related to Genetic Motor Neuron Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 8.62 DYNC1H1 DCTN1

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 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
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