MCID: GNT176
MIFTS: 24

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 distal hereditary motor neuronopathy type 7 and neuronopathy, distal hereditary motor, type viib. An important gene associated with Genetic Motor Neuron Disease is DCTN1 (Dynactin Subunit 1), and among its related pathways/superpathways are Vasopressin-regulated water reabsorption and COPI-independent Golgi-to-ER retrograde traffic. Related phenotypes are behavior/neurological and muscle

Related Diseases for Genetic Motor Neuron Disease

Diseases related to Genetic Motor Neuron Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 distal hereditary motor neuronopathy type 7 10.3 DYNC1H1 DCTN1
2 neuronopathy, distal hereditary motor, type viib 10.3 DYNC1H1 DCTN1
3 charcot-marie-tooth disease type 5 10.3 GARS1 DYNC1H1
4 scapuloperoneal spinal muscular atrophy 10.2 TRPV4 GARS1
5 charcot-marie-tooth disease, axonal, type 2w 10.2 MPZ MFN2
6 charcot-marie-tooth disease, demyelinating, type 1d 10.2 MPZ GARS1
7 neuropathy, hereditary sensory and autonomic, type ic 10.1 SH3TC2 DCTN1
8 charcot-marie-tooth disease, dominant intermediate c 10.1 MPZ GARS1
9 hereditary neuropathies 10.1 MPZ MFN2
10 charcot-marie-tooth disease, dominant intermediate d 10.1 SH3TC2 MPZ
11 charcot-marie-tooth disease, type 4b3 10.0 SH3TC2 MPZ
12 neuronopathy, distal hereditary motor, type va 10.0 MFN2 GARS1 DCTN1
13 charcot-marie-tooth disease, demyelinating, type 4f 10.0 SH3TC2 MPZ
14 spinal muscular atrophy, distal, autosomal recessive, 2 10.0 TRPV4 MFN2 GARS1
15 charcot-marie-tooth disease, dominant intermediate b 10.0 SH3TC2 MPZ
16 familial episodic pain syndrome 10.0 TRPV4 SCN11A
17 charcot-marie-tooth disease, x-linked recessive, 2 10.0 MPZ MFN2 DYNC1H1
18 charcot-marie-tooth disease, type 4h 10.0 SH3TC2 MPZ
19 mononeuropathy 10.0 SH3TC2 MPZ
20 charcot-marie-tooth disease, axonal, type 2a1 9.9 MPZ MFN2 GARS1
21 charcot-marie-tooth disease, type 4d 9.9 SH3TC2 MPZ
22 nerve compression syndrome 9.9 SH3TC2 MPZ
23 aids phobia 9.9 SCN11A PLEKHG5
24 charcot-marie-tooth disease, demyelinating, type 1f 9.9 NEFL MPZ DYNC1H1
25 charcot-marie-tooth disease, type 4b2 9.9 SH3TC2 MPZ
26 autosomal recessive distal hereditary motor neuronopathy 9.9 SETX GARS1
27 charcot-marie-tooth disease, type 4j 9.9 SH3TC2 MPZ
28 charcot-marie-tooth disease, dominant intermediate e 9.9 SH3TC2 MPZ DYNC1H1
29 distal hereditary motor neuronopathy type 2 9.8 MPZ GARS1
30 charcot-marie-tooth disease, type 4c 9.8 SH3TC2 MPZ
31 charcot-marie-tooth disease, type 4b1 9.8 SH3TC2 MPZ
32 spinal muscular atrophy, distal, autosomal recessive, 1 9.8 SETX GARS1
33 polyneuropathy 9.7 SH3TC2 MPZ MFN2
34 charcot-marie-tooth hereditary neuropathy 9.7 TRPV4 SETX GARS1
35 spinal muscular atrophy with lower extremity predominance 9.7 SETX GARS1 DYNC1H1
36 juvenile amyotrophic lateral sclerosis 9.7 SETX PLEKHG5
37 charcot-marie-tooth disease, axonal, type 2l 9.6 NEFL MPZ MFN2 GARS1
38 charcot-marie-tooth disease, axonal, type 2f 9.6 NEFL MPZ MFN2 GARS1
39 charcot-marie-tooth disease, axonal, type 2b2 9.6 NEFL MPZ MFN2 GARS1
40 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.6 SETX NEFL DCTN1
41 sensory peripheral neuropathy 9.6 TRPV4 SH3TC2 MPZ MFN2
42 charcot-marie-tooth disease type x 9.6 SH3TC2 MPZ MFN2 GARS1
43 charcot-marie-tooth disease intermediate type 9.6 SH3TC2 MPZ MFN2 GARS1
44 charcot-marie-tooth disease, type 4a 9.6 SH3TC2 MPZ MFN2 GARS1
45 charcot-marie-tooth disease, demyelinating, type 1b 9.6 SH3TC2 MPZ MFN2 GARS1
46 paine syndrome 9.6 TRPV4 SCN11A
47 neuropathy, hereditary sensory and autonomic, type iia 9.5 SH3TC2 SETX DCTN1
48 charcot-marie-tooth disease, axonal, type 2j 9.5 SH3TC2 NEFL MPZ GARS1
49 charcot-marie-tooth disease, axonal, type 2i 9.5 SH3TC2 NEFL MPZ GARS1
50 distal hereditary motor neuropathies 9.5 TRPV4 SETX GARS1 DCTN1

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

MGI Mouse Phenotypes related to Genetic Motor Neuron Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 DCTN1 DYNC1H1 GARS1 MFN2 MPZ NEFL
2 muscle MP:0005369 9.5 DCTN1 DYNC1H1 GARS1 MFN2 PLEKHG5 SH3TC2
3 nervous system MP:0003631 9.28 DCTN1 DYNC1H1 GARS1 MFN2 MPZ NEFL

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
Cerebellar degeneration in adult spinal muscular atrophy patients. 61
32388834 2020
2
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
3
Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients. 61
30460449 2019
4
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. 61
27499521 2016
5
Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis. 61
22094924 2012
6
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 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPV4 NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys)SNV Pathogenic 5002 rs267607146 12:110238471-110238471 12:109800666-109800666
2 DCTN1 NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser)SNV Pathogenic 8401 rs121909342 2:74605231-74605231 2:74378104-74378104
3 MFN2 NM_014874.3(MFN2):c.475-2A>GSNV Likely pathogenic 567011 rs1557522794 1:12057352-12057352 1:11997295-11997295
4 PLEKHG5 NM_020631.5(PLEKHG5):c.1940T>C (p.Phe647Ser)SNV Conflicting interpretations of pathogenicity 1019 rs63750315 1:6529504-6529504 1:6469444-6469444
5 MPZ NM_000530.8(MPZ):c.268G>A (p.Asp90Asn)SNV Uncertain significance 581604 rs1558154208 1:161276678-161276678 1:161306888-161306888
6 DCTN1 NM_004082.4(DCTN1):c.279+1G>TSNV Uncertain significance 565763 rs1393363759 2:74605126-74605126 2:74377999-74377999
7 DCTN1 NM_004082.4(DCTN1):c.2054T>G (p.Val685Gly)SNV Uncertain significance 637068 2:74594953-74594953 2:74367826-74367826
8 GARS1 NM_002047.4(GARS1):c.998A>G (p.Glu333Gly)SNV Uncertain significance 637107 7:30651828-30651828 7:30612212-30612212
9 SETX NM_015046.7(SETX):c.6052A>G (p.Lys2018Glu)SNV Uncertain significance 637405 9:135171313-135171313 9:132295926-132295926
10 DYNC1H1 NM_001376.5(DYNC1H1):c.3179T>C (p.Leu1060Ser)SNV Uncertain significance 637077 14:102461032-102461032 14:101994695-101994695
11 NEFL NM_006158.4(NEFL):c.793T>G (p.Tyr265Asp)SNV Uncertain significance 447763 rs1554497573 8:24813237-24813237 8:24955723-24955723
12 SH3TC2 NM_024577.3(SH3TC2):c.1325C>T (p.Pro442Leu)SNV Uncertain significance 452652 rs370613184 5:148407970-148407970 5:149028407-149028407
13 SCN11A NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu)SNV Uncertain significance 474743 rs201107889 3:38888494-38888494 3:38847003-38847003

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 10.6 DYNC1H1 DCTN1
2 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 dynein complex GO:0030286 9.16 DYNC1H1 DCTN1
2 growth cone GO:0030426 9.13 TRPV4 SETX NEFL
3 axon GO:0030424 9.02 SETX SCN11A NEFL GARS1 DCTN1

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic microtubule organization GO:0031122 9.26 DYNC1H1 DCTN1
2 regulation of mitotic spindle organization GO:0060236 9.16 DYNC1H1 DCTN1
3 nuclear migration GO:0007097 8.96 DYNC1H1 DCTN1
4 retrograde axonal transport GO:0008090 8.62 NEFL DYNC1H1

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

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 8.62 TRPV4 SCN11A

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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