MCID: DST101
MIFTS: 27

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 76 37
Distal Spinal Muscular Atrophy 73

Classifications:



External Ids:

KEGG 37 H00856
UMLS 73 C0393541

Summaries for Distal Hereditary Motor Neuropathies

MalaCards based summary : Distal Hereditary Motor Neuropathies, also known as distal spinal muscular atrophy, is related to distal hereditary motor neuropathy, type v and distal hereditary motor neuropathy, type ii. An important gene associated with Distal Hereditary Motor Neuropathies is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2). Affiliated tissues include spinal cord and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 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 Ii Distal Hereditary Motor Neuropathy, Type V
Distal Hereditary Motor Neuropathy Type 7

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 distal hereditary motor neuropathy, type v 12.7
2 distal hereditary motor neuropathy, type ii 12.7
3 distal hereditary motor neuropathy type 7 12.3
4 charcot-marie-tooth hereditary neuropathy 11.8
5 neuronopathy, distal hereditary motor, type va 11.8
6 spastic paraplegia 17, autosomal dominant 11.6
7 amyotrophic lateral sclerosis 4, juvenile 11.5
8 spinal muscular atrophy, distal, autosomal recessive, 1 11.5
9 neuronopathy, distal hereditary motor, type viia 11.4
10 spinal muscular atrophy, distal, autosomal recessive, 2 11.4
11 neuronopathy, distal hereditary motor, type viib 11.4
12 neuromyotonia and axonal neuropathy, autosomal recessive 11.3
13 neuronopathy, distal hereditary motor, type iia 11.3
14 neuronopathy, distal hereditary motor, type i 11.3
15 spinal muscular atrophy, distal, x-linked 3 11.3
16 spinal muscular atrophy, distal, autosomal recessive, 3 11.3
17 neuronopathy, distal hereditary motor, type iib 11.3
18 neuronopathy, distal hereditary motor, type iic 11.3
19 neuronopathy, distal hereditary motor, type vb 11.3
20 spinal muscular atrophy, distal, autosomal recessive, 5 11.3
21 neuronopathy, distal hereditary motor, type iid 11.3
22 charcot-marie-tooth disease, axonal, type 2a1 11.2
23 charcot-marie-tooth disease, x-linked dominant, 1 11.2
24 neuropathy, hereditary, with or without age-related macular degeneration 11.2
25 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.2
26 neuropathy 10.8
27 myopathy 10.1
28 myofibrillar myopathy 10.0
29 tooth disease 10.0 GARS IGHMBP2
30 muscular atrophy 9.9 GARS IGHMBP2
31 respiratory failure 9.9 DCTN1 IGHMBP2
32 charcot-marie-tooth disease, axonal, type 2e 9.9 GARS IGHMBP2
33 juvenile amyotrophic lateral sclerosis 9.9 IGHMBP2 SETX
34 lateral sclerosis 9.8 DCTN1 SETX
35 spinal muscular atrophy 9.8 GARS IGHMBP2
36 motor neuron disease 9.7 DCTN1 SETX
37 charcot-marie-tooth disease 9.4 DCTN1 GARS IGHMBP2 SETX

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 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 GARS
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.7 DCTN1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.7 GARS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.7 DCTN1 GARS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.7 DCTN1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.7 GARS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.7 DCTN1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.7 DCTN1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.7 GARS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.7 GARS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.7 GARS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.7 GARS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.7 GARS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.7 DCTN1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.7 GARS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.7 GARS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.7 DCTN1 GARS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.7 GARS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.7 GARS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.7 DCTN1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.7 DCTN1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.7 GARS

MGI Mouse Phenotypes related to Distal Hereditary Motor Neuropathies:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 DCTN1 GARS IGHMBP2

Drugs & Therapeutics for Distal Hereditary Motor Neuropathies

Search Clinical Trials , 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:

41
Spinal Cord, Brain

Publications for Distal Hereditary Motor Neuropathies

Articles related to Distal Hereditary Motor Neuropathies:

(show all 25)
# Title Authors Year
1
The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. ( 26063656 )
2015
2
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. ( 26063657 )
2015
3
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. ( 24307404 )
2014
4
The distal hereditary motor neuropathies. ( 22028385 )
2012
5
Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies. ( 21902652 )
2011
6
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. ( 18325928 )
2008
7
Gait recovery in a distal spinal muscular atrophy patient wearing a patellar tendon-bearing orthosis and orthopaedic shoes. ( 17351703 )
2007
8
Molecular genetics of distal hereditary motor neuropathies. ( 15358725 )
2004
9
Congenital autosomal dominant distal spinal muscular atrophy. ( 9713859 )
1998
10
Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases. ( 9138162 )
1997
11
Autosomal dominant distal spinal muscular atrophy in four generations. ( 7723957 )
1995
12
Muscle biopsy in juvenile distal spinal muscular atrophy. ( 8174591 )
1994
13
Lack of serum neutralizing antibody against poliovirus in patients with juvenile distal spinal muscular atrophy of upper extremities. ( 8214348 )
1993
14
Lack of cervical paraspinal muscle involvement in juvenile distal spinal muscular atrophy: an electromyographic study on 15 cases. ( 8326332 )
1993
15
Distal spinal muscular atrophy with vocal cord paralysis. ( 1552559 )
1992
16
Sensory axonopathy in hereditary distal spinal muscular atrophy. ( 1665767 )
1991
17
Juvenile distal spinal muscular atrophy of upper extremities in Chinese males: a single fibre electromyographic study of arms and legs. ( 2019844 )
1991
18
Continuous muscle activity and distal spinal muscular atrophy. ( 2044630 )
1991
19
Non familial juvenile distal spinal muscular atrophy of upper extremity. ( 2926413 )
1989
20
Optico-acoustic atrophy in distal spinal muscular atrophy. ( 3572444 )
1987
21
A case of distal spinal muscular atrophy with unusual clinical course. ( 6660063 )
1983
22
Distal spinal muscular atrophy and ophthalmoparesis. A case with selective type 2 fiber hypotrophy. ( 7271541 )
1981
23
Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. ( 7365507 )
1980
24
Hereditary distal spinal muscular atrophy with vocal cord paralysis. ( 7420092 )
1980
25
Distal spinal muscular atrophy. A clinical and genetic study of 8 kindreds. ( 512678 )
1979

Variations for Distal Hereditary Motor Neuropathies

ClinVar genetic disease variations for Distal Hereditary Motor Neuropathies:

6 (show top 50) (show all 318)
# Gene Variation Type Significance SNP ID Assembly Location
1 GARS NM_002047.3(GARS): c.222+5C> T single nucleotide variant Benign rs2072236 GRCh37 Chromosome 7, 30634764: 30634764
2 GARS NM_002047.3(GARS): c.222+5C> T single nucleotide variant Benign rs2072236 GRCh38 Chromosome 7, 30595148: 30595148
3 GARS NM_002047.3(GARS): c.1062T> C (p.Phe354=) single nucleotide variant Benign rs11553502 GRCh37 Chromosome 7, 30655542: 30655542
4 GARS NM_002047.3(GARS): c.1062T> C (p.Phe354=) single nucleotide variant Benign rs11553502 GRCh38 Chromosome 7, 30615926: 30615926
5 GARS NM_002047.3(GARS): c.1613+9T> C single nucleotide variant Benign rs75855065 GRCh37 Chromosome 7, 30662087: 30662087
6 GARS NM_002047.3(GARS): c.1613+9T> C single nucleotide variant Benign rs75855065 GRCh38 Chromosome 7, 30622471: 30622471
7 GARS NM_002047.3(GARS): c.1833T> C (p.Val611=) single nucleotide variant Benign rs14270 GRCh37 Chromosome 7, 30671087: 30671087
8 GARS NM_002047.3(GARS): c.1833T> C (p.Val611=) single nucleotide variant Benign rs14270 GRCh38 Chromosome 7, 30631471: 30631471
9 GARS NM_002047.3(GARS): c.2145A> G (p.Thr715=) single nucleotide variant Benign rs4593 GRCh37 Chromosome 7, 30673401: 30673401
10 GARS NM_002047.3(GARS): c.2145A> G (p.Thr715=) single nucleotide variant Benign rs4593 GRCh38 Chromosome 7, 30633785: 30633785
11 GARS NM_002047.3(GARS): c.93G> C (p.Leu31=) single nucleotide variant Benign rs2529438 GRCh37 Chromosome 7, 30634630: 30634630
12 GARS NM_002047.3(GARS): c.93G> C (p.Leu31=) single nucleotide variant Benign rs2529438 GRCh38 Chromosome 7, 30595014: 30595014
13 PLEKHG5 NM_020631.4(PLEKHG5): c.-88+5G> A single nucleotide variant Benign rs3007429 GRCh37 Chromosome 1, 6551692: 6551692
14 PLEKHG5 NM_020631.4(PLEKHG5): c.-88+5G> A single nucleotide variant Benign rs3007429 GRCh38 Chromosome 1, 6491632: 6491632
15 IGHMBP2 NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs) deletion Conflicting interpretations of pathogenicity rs724159994 GRCh38 Chromosome 11, 68939660: 68939661
16 IGHMBP2 NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs) deletion Conflicting interpretations of pathogenicity rs724159994 GRCh37 Chromosome 11, 68707128: 68707129
17 GARS NM_002047.3(GARS): c.803C> T (p.Thr268Ile) single nucleotide variant Benign/Likely benign rs2230310 GRCh37 Chromosome 7, 30649268: 30649268
18 GARS NM_002047.3(GARS): c.803C> T (p.Thr268Ile) single nucleotide variant Benign/Likely benign rs2230310 GRCh38 Chromosome 7, 30609652: 30609652
19 GARS NM_002047.3(GARS): c.1716G> A (p.Pro572=) single nucleotide variant Conflicting interpretations of pathogenicity rs370608239 GRCh37 Chromosome 7, 30668192: 30668192
20 GARS NM_002047.3(GARS): c.1716G> A (p.Pro572=) single nucleotide variant Conflicting interpretations of pathogenicity rs370608239 GRCh38 Chromosome 7, 30628576: 30628576
21 PLEKHG5 NM_020631.4(PLEKHG5): c.1616C> T (p.Ala539Val) single nucleotide variant Uncertain significance rs370515061 GRCh37 Chromosome 1, 6530630: 6530630
22 PLEKHG5 NM_020631.4(PLEKHG5): c.1616C> T (p.Ala539Val) single nucleotide variant Uncertain significance rs370515061 GRCh38 Chromosome 1, 6470570: 6470570
23 PLEKHG5 NM_020631.4(PLEKHG5): c.2001T> C (p.Ser667=) single nucleotide variant Benign rs730600 GRCh37 Chromosome 1, 6529443: 6529443
24 PLEKHG5 NM_020631.4(PLEKHG5): c.2001T> C (p.Ser667=) single nucleotide variant Benign rs730600 GRCh38 Chromosome 1, 6469383: 6469383
25 PLEKHG5 NM_020631.4(PLEKHG5): c.2163G> A (p.Glu721=) single nucleotide variant Benign rs62639695 GRCh37 Chromosome 1, 6529188: 6529188
26 PLEKHG5 NM_020631.4(PLEKHG5): c.2163G> A (p.Glu721=) single nucleotide variant Benign rs62639695 GRCh38 Chromosome 1, 6469128: 6469128
27 PLEKHG5 NM_020631.4(PLEKHG5): c.2166_2168delGGA (p.Glu723del) deletion Benign/Likely benign rs113541584 GRCh37 Chromosome 1, 6529183: 6529185
28 PLEKHG5 NM_020631.4(PLEKHG5): c.2166_2168delGGA (p.Glu723del) deletion Benign/Likely benign rs113541584 GRCh38 Chromosome 1, 6469123: 6469125
29 PLEKHG5 NM_020631.4(PLEKHG5): c.713C> G (p.Thr238Ser) single nucleotide variant Benign rs61741379 GRCh37 Chromosome 1, 6533393: 6533393
30 PLEKHG5 NM_020631.4(PLEKHG5): c.713C> G (p.Thr238Ser) single nucleotide variant Benign rs61741379 GRCh38 Chromosome 1, 6473333: 6473333
31 PLEKHG5 NM_020631.4(PLEKHG5): c.691G> A (p.Gly231Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146651455 GRCh37 Chromosome 1, 6533415: 6533415
32 PLEKHG5 NM_020631.4(PLEKHG5): c.691G> A (p.Gly231Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146651455 GRCh38 Chromosome 1, 6473355: 6473355
33 GARS NM_002047.3(GARS): c.1852G> A (p.Val618Ile) single nucleotide variant Uncertain significance rs369894731 GRCh38 Chromosome 7, 30631490: 30631490
34 GARS NM_002047.3(GARS): c.1852G> A (p.Val618Ile) single nucleotide variant Uncertain significance rs369894731 GRCh37 Chromosome 7, 30671106: 30671106
35 GARS NM_002047.3(GARS): c.11C> T (p.Pro4Leu) single nucleotide variant Benign/Likely benign rs62636572 GRCh37 Chromosome 7, 30634548: 30634548
36 GARS NM_002047.3(GARS): c.11C> T (p.Pro4Leu) single nucleotide variant Benign/Likely benign rs62636572 GRCh38 Chromosome 7, 30594932: 30594932
37 GARS NM_002047.3(GARS): c.1962C> T (p.Ile654=) single nucleotide variant Benign/Likely benign rs201927627 GRCh37 Chromosome 7, 30671921: 30671921
38 GARS NM_002047.3(GARS): c.1962C> T (p.Ile654=) single nucleotide variant Benign/Likely benign rs201927627 GRCh38 Chromosome 7, 30632305: 30632305
39 IGHMBP2 NM_002180.2(IGHMBP2): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs200089714 GRCh38 Chromosome 11, 68906109: 68906109
40 IGHMBP2 NM_002180.2(IGHMBP2): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs200089714 GRCh37 Chromosome 11, 68673577: 68673577
41 PLEKHG5 NM_020631.4(PLEKHG5): c.2594A> G (p.Gln865Arg) single nucleotide variant Benign/Likely benign rs3007419 GRCh37 Chromosome 1, 6528302: 6528302
42 PLEKHG5 NM_020631.4(PLEKHG5): c.2594A> G (p.Gln865Arg) single nucleotide variant Benign/Likely benign rs3007419 GRCh38 Chromosome 1, 6468242: 6468242
43 PLEKHG5 NM_020631.4(PLEKHG5): c.482T> C (p.Met161Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140817021 GRCh37 Chromosome 1, 6534182: 6534182
44 PLEKHG5 NM_020631.4(PLEKHG5): c.482T> C (p.Met161Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140817021 GRCh38 Chromosome 1, 6474122: 6474122
45 PLEKHG5 NM_020631.4(PLEKHG5): c.307G> A (p.Val103Met) single nucleotide variant Conflicting interpretations of pathogenicity rs141032388 GRCh37 Chromosome 1, 6534643: 6534643
46 PLEKHG5 NM_020631.4(PLEKHG5): c.307G> A (p.Val103Met) single nucleotide variant Conflicting interpretations of pathogenicity rs141032388 GRCh38 Chromosome 1, 6474583: 6474583
47 PLEKHG5 NM_020631.4(PLEKHG5): c.88C> T (p.Arg30Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs111400494 GRCh37 Chromosome 1, 6536052: 6536052
48 PLEKHG5 NM_020631.4(PLEKHG5): c.88C> T (p.Arg30Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs111400494 GRCh38 Chromosome 1, 6475992: 6475992
49 PLEKHG5 NM_020631.4(PLEKHG5): c.34C> A (p.Pro12Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140687324 GRCh38 Chromosome 1, 6477538: 6477538
50 PLEKHG5 NM_020631.4(PLEKHG5): c.34C> A (p.Pro12Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140687324 GRCh37 Chromosome 1, 6537598: 6537598

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 cell projection GO:0042995 9.33 GARS IGHMBP2 SETX
2 growth cone GO:0030426 8.96 IGHMBP2 SETX
3 axon GO:0030424 8.92 DCTN1 GARS IGHMBP2 SETX

Biological processes related to Distal Hereditary Motor Neuropathies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.16 GARS IGHMBP2
2 DNA recombination GO:0006310 8.96 IGHMBP2 SETX
3 DNA duplex unwinding GO:0032508 8.62 IGHMBP2 SETX

Molecular functions related to Distal Hereditary Motor Neuropathies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.43 GARS IGHMBP2 SETX
2 ATP binding GO:0005524 9.33 GARS IGHMBP2 SETX
3 helicase activity GO:0004386 8.96 IGHMBP2 SETX
4 DNA helicase activity GO:0003678 8.62 IGHMBP2 SETX

Sources for Distal Hereditary Motor Neuropathies

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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