MCID: DST101
MIFTS: 23

Distal Hereditary Motor Neuropathies

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Distal Hereditary Motor Neuropathies

MalaCards integrated aliases for Distal Hereditary Motor Neuropathies:

Name: Distal Hereditary Motor Neuropathies 73 36
Neuropathy, Motor, Distal, Hereditary 39
Distal Spinal Muscular Atrophy 70

Classifications:



External Ids:

KEGG 36 H00856
UMLS 70 C0393541

Summaries for Distal Hereditary Motor Neuropathies

KEGG : 36 Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT) [DS:H00264] and with juvenile forms of amyotrophic lateral sclerosis [DS:H00058] and hereditary spastic paraplegia [DS:H00266]. The causative genes with autosomal dominant, recessive, and X-linked patterns of inheritance have implicated proteins with diverse functions. Distal HMN are classified into phenotypic subtypes according to age at onset, mode of inheritance, and presence of additional features.

MalaCards based summary : Distal Hereditary Motor Neuropathies, also known as neuropathy, motor, distal, hereditary, is related to spinal muscular atrophy and lateral sclerosis. An important gene associated with Distal Hereditary Motor Neuropathies is DCTN1 (Dynactin Subunit 1). The drugs Anti-Infective Agents, Local and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 73 Distal hereditary motor neuronopathies (distal HMN, dHMN), sometimes also called distal hereditary motor... more...

Related Diseases for Distal Hereditary Motor Neuropathies

Diseases in the Distal Hereditary Motor Neuropathies family:

Distal Hereditary Motor Neuropathy Type 7 Autosomal Recessive Distal Hereditary Motor Neuropathy

Diseases related to Distal Hereditary Motor Neuropathies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 30.0 SETX GARS1
2 lateral sclerosis 29.9 SETX DCTN1
3 neuronopathy, distal hereditary motor, type va 29.7 GARS1 DCTN1
4 muscular atrophy 29.6 SETX GARS1 DCTN1
5 charcot-marie-tooth disease 29.5 SETX GARS1 DCTN1
6 motor neuron disease 29.3 SETX GARS1 DCTN1
7 neuronopathy, distal hereditary motor, type viia 11.3
8 neuronopathy, distal hereditary motor, type i 11.3
9 neuronopathy, distal hereditary motor, type viib 11.3
10 neuronopathy, distal hereditary motor, type iib 11.3
11 neuronopathy, distal hereditary motor, type iic 11.3
12 neuronopathy, distal hereditary motor, type vb 11.3
13 neuronopathy, distal hereditary motor, type iid 11.3
14 distal hereditary motor neuronopathy type 2 11.3
15 tooth disease 10.2
16 amyotrophic lateral sclerosis 1 10.1
17 neuronopathy, distal hereditary motor, type iia 10.1
18 spastic paraplegia 17, autosomal dominant 10.1
19 charcot-marie-tooth disease, axonal, type 2d 10.1
20 charcot-marie-tooth disease, axonal, type 2f 10.1
21 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1
22 hereditary spastic paraplegia 10.1
23 peripheral nervous system disease 10.1
24 paraplegia 10.1
25 neuropathy 10.1
26 bscl2-related neurologic disorders/seipinopathy 10.1
27 berardinelli-seip congenital lipodystrophy 10.1
28 charcot-marie-tooth hereditary neuropathy 10.1
29 gars1-associated axonal neuropathy 10.1
30 spinal muscular atrophy, distal, autosomal recessive, 4 9.9 SETX DCTN1
31 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.9 SETX DCTN1
32 neuropathy, hereditary sensory and autonomic, type iia 9.8 SETX DCTN1
33 spinal muscular atrophy with lower extremity predominance 9.8 SETX GARS1
34 autosomal recessive distal hereditary motor neuronopathy 9.8 SETX GARS1
35 spinal muscular atrophy, distal, autosomal recessive, 1 9.8 SETX GARS1
36 hemochromatosis, type 1 9.8 SETX DCTN1
37 axonal neuropathy 9.8 SETX GARS1
38 autosomal dominant distal hereditary motor neuronopathy 9.7 GARS1 DCTN1
39 charcot-marie-tooth disease and deafness 9.7 GARS1 DCTN1
40 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.6 GARS1 DCTN1
41 neuromuscular disease 9.6 GARS1 DCTN1
42 charcot-marie-tooth disease, axonal, type 2e 9.5 GARS1 DCTN1
43 motor peripheral neuropathy 9.5 SETX GARS1 DCTN1
44 disease of mental health 9.1 SETX GARS1 DCTN1

Graphical network of the top 20 diseases related to Distal Hereditary Motor Neuropathies:



Diseases related to Distal Hereditary Motor Neuropathies

Symptoms & Phenotypes for Distal Hereditary Motor Neuropathies

GenomeRNAi Phenotypes related to Distal Hereditary Motor Neuropathies according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.58 GARS1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.58 GARS1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.58 DCTN1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.58 GARS1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.58 GARS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-179 9.58 DCTN1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.58 GARS1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.58 GARS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.58 GARS1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.58 DCTN1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.58 GARS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.58 GARS1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.58 GARS1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.58 DCTN1 GARS1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.58 GARS1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 DCTN1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.58 GARS1

Drugs & Therapeutics for Distal Hereditary Motor Neuropathies

Drugs for Distal Hereditary Motor Neuropathies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents, Local
2 Anti-Infective Agents
3 Carbon Fiber

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Exploring Muscle Structure, Function and Gait Patterns in People With Distal Hereditary Motor Neuropathy: Natural History and the Effect of Rehabilitation Interventions Not yet recruiting NCT04193228

Search NIH Clinical Center for Distal Hereditary Motor Neuropathies

Genetic Tests for Distal Hereditary Motor Neuropathies

Anatomical Context for Distal Hereditary Motor Neuropathies

MalaCards organs/tissues related to Distal Hereditary Motor Neuropathies:

40
Spinal Cord

Publications for Distal Hereditary Motor Neuropathies

Articles related to Distal Hereditary Motor Neuropathies:

(show all 41)
# Title Authors PMID Year
1
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation. 61
33369814 2021
2
A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family. 61
33443672 2021
3
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. 61
32937143 2020
4
Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study. 61
32320108 2020
5
Molecular analysis and clinical diversity of distal hereditary motor neuropathy. 61
32298515 2020
6
Human HSPB1 mutation recapitulates features of distal hereditary motor neuropathy (dHMN) in Drosophila. 61
31630804 2020
7
TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy. 61
30503856 2019
8
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. 61
31332438 2019
9
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1. 61
31090908 2019
10
Typical bulbar ALS can be linked to GARS mutation. 61
30661401 2019
11
SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family. 61
30079398 2018
12
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies. 61
29582019 2018
13
Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V. 61
29527379 2018
14
Motor neuropathies and lower motor neuron syndromes. 61
28434507 2017
15
Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain. 61
28031292 2017
16
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2. 61
27487800 2016
17
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling. 61
27402882 2016
18
Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature. 61
26922252 2016
19
Classifications of neurogenetic diseases: An increasingly complex problem. 61
27240993 2016
20
Chaperonopathies: Spotlight on Hereditary Motor Neuropathies. 61
28018906 2016
21
Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy. 61
28503617 2016
22
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance. 61
25484024 2015
23
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. 61
24105373 2014
24
Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes. 61
25323870 2014
25
Early onset (childhood) monogenic neuropathies. 61
23931819 2013
26
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 61
22703882 2012
27
A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. 61
22522442 2012
28
The distal hereditary motor neuropathies. 61
22028385 2012
29
Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies. 61
21902652 2011
30
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 61
20170900 2010
31
Diagnosis and new treatments in genetic neuropathies. 61
19917815 2009
32
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. 61
18325928 2008
33
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. 61
17663003 2007
34
Genetics of motor neuron disease. 61
16928353 2006
35
Molecular genetics of distal hereditary motor neuropathies. 61
15358725 2004
36
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. 61
15122253 2004
37
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. 61
15122254 2004
38
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. 61
12090300 2002
39
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. 61
11851982 2001
40
Distal Hereditary Motor Neuropathy Type II (Distal HMN Type II): Phenotype and Molecular Genetics. 61
29086966 1999
41
Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics. 61
10586231 1999

Variations for Distal Hereditary Motor Neuropathies

Expression for Distal Hereditary Motor Neuropathies

Search GEO for disease gene expression data for Distal Hereditary Motor Neuropathies.

Pathways for Distal Hereditary Motor Neuropathies

GO Terms for Distal Hereditary Motor Neuropathies

Cellular components related to Distal Hereditary Motor Neuropathies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercellular bridge GO:0045171 8.96 SETX DCTN1
2 axon GO:0030424 8.8 SETX GARS1 DCTN1

Sources for Distal Hereditary Motor Neuropathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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