MCID: DST101
MIFTS: 28

Distal Hereditary Motor Neuropathies

Categories: Rare diseases, Neuronal diseases, Muscle 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 53 6 73
Neuropathy, Motor, Distal, Hereditary 40
Distal Hereditary Motor Neuropathy 53
Spinal Muscular Atrophy Distal 55
Dhmn 53
Dsma 53

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 tooth disease and charcot-marie-tooth disease. An important gene associated with Distal Hereditary Motor Neuropathies is IGHMBP2 (Immunoglobulin Mu Binding Protein 2). Affiliated tissues include spinal cord, 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 41)
# Related Disease Score Top Affiliating Genes
1 tooth disease 29.4 GARS IGHMBP2
2 charcot-marie-tooth disease 27.2 DCTN1 GARS IGHMBP2 SETX
3 distal hereditary motor neuropathy, type v 12.6
4 distal hereditary motor neuropathy, type ii 12.5
5 distal hereditary motor neuropathy type 7 12.2
6 spinal muscular atrophy, distal, autosomal recessive, 4 12.0
7 neuronopathy, distal hereditary motor, type va 11.6
8 spastic paraplegia 17, autosomal dominant 11.5
9 amyotrophic lateral sclerosis 4, juvenile 11.4
10 spinal muscular atrophy, distal, autosomal recessive, 1 11.4
11 neuronopathy, distal hereditary motor, type viia 11.3
12 spinal muscular atrophy, distal, autosomal recessive, 2 11.3
13 neuronopathy, distal hereditary motor, type viib 11.3
14 neuromyotonia and axonal neuropathy, autosomal recessive 11.2
15 neuronopathy, distal hereditary motor, type iia 11.1
16 neuronopathy, distal hereditary motor, type i 11.1
17 spinal muscular atrophy, distal, x-linked 3 11.1
18 spinal muscular atrophy, distal, autosomal recessive, 3 11.1
19 neuronopathy, distal hereditary motor, type iib 11.1
20 neuronopathy, distal hereditary motor, type iic 11.1
21 neuronopathy, distal hereditary motor, type vb 11.1
22 spinal muscular atrophy, distal, autosomal recessive, 5 11.1
23 neuronopathy, distal hereditary motor, type iid 11.1
24 charcot-marie-tooth disease, axonal, type 2a1 11.1
25 charcot-marie-tooth disease, x-linked dominant, 1 11.1
26 neuropathy, hereditary, with or without age-related macular degeneration 11.1
27 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.1
28 neuropathy 10.7
29 cranial nerve palsy 10.0
30 myopathy 10.0
31 neuronitis 10.0
32 muscular atrophy 9.9 GARS IGHMBP2
33 pancreatitis 9.9
34 myofibrillar myopathy 9.9
35 charcot-marie-tooth disease, axonal, type 2e 9.8 GARS IGHMBP2
36 respiratory failure 9.8 DCTN1 IGHMBP2
37 juvenile amyotrophic lateral sclerosis 9.6 IGHMBP2 SETX
38 spinal muscular atrophy 9.6 GARS IGHMBP2
39 motor neuron disease 9.3 DCTN1 SETX
40 trehalase deficiency 9.0 GARS IGHMBP2 SETX
41 lateral sclerosis 8.9 DCTN1 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 GARS DCTN1
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 GARS DCTN1
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

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

Publications for Distal Hereditary Motor Neuropathies

Articles related to Distal Hereditary Motor Neuropathies:

(show top 50) (show all 70)
# Title Authors Year
1
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. ( 29029362 )
2018
2
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development. ( 28193117 )
2017
3
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8. ( 28780615 )
2017
4
Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family. ( 27875632 )
2017
5
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. ( 28369220 )
2017
6
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). ( 27293072 )
2016
7
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience. ( 26989944 )
2016
8
Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. ( 26786006 )
2016
9
Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy. ( 28503617 )
2016
10
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling. ( 27402882 )
2016
11
TBCE mutations cause early-onset progressive encephalopathy with distal spinal muscular atrophy. ( 27666369 )
2016
12
Distal hereditary motor neuropathy typeA 7B with Dynactin 1 mutation. ( 27573046 )
2016
13
A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. ( 26078401 )
2015
14
GRS defective axonal distribution as a potential contributor to distal spinal muscular atrophy type V pathogenesis in a new model of GRS-associated neuropathy. ( 25218976 )
2014
15
DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy. ( 24755273 )
2014
16
A family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1. ( 25088881 )
2014
17
190 th ENMC international workshop: Spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1: 11-13 May 2012, Naarden, The Netherlands. ( 23726377 )
2013
18
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. ( 24207122 )
2013
19
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. ( 24105373 )
2013
20
Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development. ( 24307404 )
2013
21
Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy. ( 22573628 )
2012
22
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. ( 22703882 )
2012
23
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. ( 23279345 )
2012
24
A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. ( 22522442 )
2012
25
Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients. ( 22595202 )
2012
26
TRPV4 mutations in children with congenital distal spinal muscular atrophy. ( 22526352 )
2012
27
The distal hereditary motor neuropathies. ( 22028385 )
2012
28
Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders. ( 21143467 )
2011
29
Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies. ( 21902652 )
2011
30
Addendum to 'Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders'. ( 21542836 )
2011
31
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. ( 20660910 )
2010
32
Missense mutations in the copper transporter gene ATP7A cause X- linked distal hereditary motor neuropathy. ( 20170900 )
2010
33
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. ( 20598714 )
2010
34
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. ( 18802676 )
2009
35
X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. ( 19153371 )
2009
36
Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotype. ( 19409784 )
2009
37
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. ( 18325928 )
2008
38
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation. ( 18587268 )
2008
39
Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boy. ( 18984846 )
2008
40
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. ( 17486577 )
2007
41
Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy. ( 17544401 )
2007
42
Gait recovery in a distal spinal muscular atrophy patient wearing a patellar tendon-bearing orthosis and orthopaedic shoes. ( 17351703 )
2007
43
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. ( 16769947 )
2006
44
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. ( 16864838 )
2006
45
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. ( 16427281 )
2006
46
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. ( 16155736 )
2005
47
A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. ( 14985388 )
2004
48
Molecular genetics of distal hereditary motor neuropathies. ( 15358725 )
2004
49
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families. ( 15054395 )
2004
50
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. ( 15122254 )
2004

Variations for Distal Hereditary Motor Neuropathies

ClinVar genetic disease variations for Distal Hereditary Motor Neuropathies:

6
(show top 50) (show all 288)
# Gene Variation Type Significance SNP ID Assembly Location
1 GARS NM_002047.3(GARS): c.803C> T (p.Thr268Ile) single nucleotide variant Benign/Likely benign rs2230310 GRCh37 Chromosome 7, 30649268: 30649268
2 GARS NM_002047.3(GARS): c.803C> T (p.Thr268Ile) single nucleotide variant Benign/Likely benign rs2230310 GRCh38 Chromosome 7, 30609652: 30609652
3 GARS NM_002047.3(GARS): c.1716G> A (p.Pro572=) single nucleotide variant Conflicting interpretations of pathogenicity rs370608239 GRCh37 Chromosome 7, 30668192: 30668192
4 GARS NM_002047.3(GARS): c.1716G> A (p.Pro572=) single nucleotide variant Conflicting interpretations of pathogenicity rs370608239 GRCh38 Chromosome 7, 30628576: 30628576
5 PLEKHG5 NM_020631.4(PLEKHG5): c.1616C> T (p.Ala539Val) single nucleotide variant Uncertain significance rs370515061 GRCh37 Chromosome 1, 6530630: 6530630
6 PLEKHG5 NM_020631.4(PLEKHG5): c.1616C> T (p.Ala539Val) single nucleotide variant Uncertain significance rs370515061 GRCh38 Chromosome 1, 6470570: 6470570
7 PLEKHG5 NM_020631.4(PLEKHG5): c.2001T> C (p.Ser667=) single nucleotide variant Benign rs730600 GRCh37 Chromosome 1, 6529443: 6529443
8 PLEKHG5 NM_020631.4(PLEKHG5): c.2001T> C (p.Ser667=) single nucleotide variant Benign rs730600 GRCh38 Chromosome 1, 6469383: 6469383
9 PLEKHG5 NM_020631.4(PLEKHG5): c.2163G> A (p.Glu721=) single nucleotide variant Benign rs62639695 GRCh37 Chromosome 1, 6529188: 6529188
10 PLEKHG5 NM_020631.4(PLEKHG5): c.2163G> A (p.Glu721=) single nucleotide variant Benign rs62639695 GRCh38 Chromosome 1, 6469128: 6469128
11 PLEKHG5 NM_020631.4(PLEKHG5): c.2166_2168delGGA (p.Glu723del) deletion Benign/Likely benign rs113541584 GRCh37 Chromosome 1, 6529183: 6529185
12 PLEKHG5 NM_020631.4(PLEKHG5): c.2166_2168delGGA (p.Glu723del) deletion Benign/Likely benign rs113541584 GRCh38 Chromosome 1, 6469123: 6469125
13 PLEKHG5 NM_020631.4(PLEKHG5): c.713C> G (p.Thr238Ser) single nucleotide variant Benign rs61741379 GRCh37 Chromosome 1, 6533393: 6533393
14 PLEKHG5 NM_020631.4(PLEKHG5): c.713C> G (p.Thr238Ser) single nucleotide variant Benign rs61741379 GRCh38 Chromosome 1, 6473333: 6473333
15 PLEKHG5 NM_020631.4(PLEKHG5): c.691G> A (p.Gly231Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146651455 GRCh37 Chromosome 1, 6533415: 6533415
16 PLEKHG5 NM_020631.4(PLEKHG5): c.691G> A (p.Gly231Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146651455 GRCh38 Chromosome 1, 6473355: 6473355
17 GARS NM_002047.3(GARS): c.1852G> A (p.Val618Ile) single nucleotide variant Uncertain significance rs369894731 GRCh38 Chromosome 7, 30631490: 30631490
18 GARS NM_002047.3(GARS): c.1852G> A (p.Val618Ile) single nucleotide variant Uncertain significance rs369894731 GRCh37 Chromosome 7, 30671106: 30671106
19 GARS NM_002047.3(GARS): c.11C> T (p.Pro4Leu) single nucleotide variant Benign rs62636572 GRCh37 Chromosome 7, 30634548: 30634548
20 GARS NM_002047.3(GARS): c.11C> T (p.Pro4Leu) single nucleotide variant Benign rs62636572 GRCh38 Chromosome 7, 30594932: 30594932
21 GARS NM_002047.3(GARS): c.1962C> T (p.Ile654=) single nucleotide variant Benign/Likely benign rs201927627 GRCh37 Chromosome 7, 30671921: 30671921
22 GARS NM_002047.3(GARS): c.1962C> T (p.Ile654=) single nucleotide variant Benign/Likely benign rs201927627 GRCh38 Chromosome 7, 30632305: 30632305
23 IGHMBP2 NM_002180.2(IGHMBP2): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs200089714 GRCh38 Chromosome 11, 68906109: 68906109
24 IGHMBP2 NM_002180.2(IGHMBP2): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs200089714 GRCh37 Chromosome 11, 68673577: 68673577
25 PLEKHG5 NM_020631.4(PLEKHG5): c.2594A> G (p.Gln865Arg) single nucleotide variant Benign/Likely benign rs3007419 GRCh37 Chromosome 1, 6528302: 6528302
26 PLEKHG5 NM_020631.4(PLEKHG5): c.2594A> G (p.Gln865Arg) single nucleotide variant Benign/Likely benign rs3007419 GRCh38 Chromosome 1, 6468242: 6468242
27 PLEKHG5 NM_020631.4(PLEKHG5): c.482T> C (p.Met161Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140817021 GRCh37 Chromosome 1, 6534182: 6534182
28 PLEKHG5 NM_020631.4(PLEKHG5): c.482T> C (p.Met161Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140817021 GRCh38 Chromosome 1, 6474122: 6474122
29 PLEKHG5 NM_020631.4(PLEKHG5): c.307G> A (p.Val103Met) single nucleotide variant Conflicting interpretations of pathogenicity rs141032388 GRCh37 Chromosome 1, 6534643: 6534643
30 PLEKHG5 NM_020631.4(PLEKHG5): c.307G> A (p.Val103Met) single nucleotide variant Conflicting interpretations of pathogenicity rs141032388 GRCh38 Chromosome 1, 6474583: 6474583
31 PLEKHG5 NM_020631.4(PLEKHG5): c.88C> T (p.Arg30Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs111400494 GRCh37 Chromosome 1, 6536052: 6536052
32 PLEKHG5 NM_020631.4(PLEKHG5): c.88C> T (p.Arg30Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs111400494 GRCh38 Chromosome 1, 6475992: 6475992
33 PLEKHG5 NM_020631.4(PLEKHG5): c.34C> A (p.Pro12Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140687324 GRCh38 Chromosome 1, 6477538: 6477538
34 PLEKHG5 NM_020631.4(PLEKHG5): c.34C> A (p.Pro12Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140687324 GRCh37 Chromosome 1, 6537598: 6537598
35 GARS NM_002047.3(GARS): c.302G> A (p.Arg101His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887429 GRCh37 Chromosome 7, 30638491: 30638491
36 GARS NM_002047.3(GARS): c.302G> A (p.Arg101His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887429 GRCh38 Chromosome 7, 30598875: 30598875
37 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh37 Chromosome 7, 30634661: 30634661
38 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh38 Chromosome 7, 30595045: 30595045
39 GARS NM_002047.3(GARS): c.747T> C (p.Tyr249=) single nucleotide variant Benign/Likely benign rs7808770 GRCh37 Chromosome 7, 30649212: 30649212
40 GARS NM_002047.3(GARS): c.747T> C (p.Tyr249=) single nucleotide variant Benign/Likely benign rs7808770 GRCh38 Chromosome 7, 30609596: 30609596
41 GARS NM_002047.3(GARS): c.1031+14T> G single nucleotide variant Benign/Likely benign rs189589556 GRCh37 Chromosome 7, 30651875: 30651875
42 GARS NM_002047.3(GARS): c.1031+14T> G single nucleotide variant Benign/Likely benign rs189589556 GRCh38 Chromosome 7, 30612259: 30612259
43 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh38 Chromosome 7, 30633729: 30633729
44 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh37 Chromosome 7, 30673345: 30673345
45 PLEKHG5 NM_020631.4(PLEKHG5): c.1254C> G (p.Pro418=) single nucleotide variant Conflicting interpretations of pathogenicity rs139904931 GRCh37 Chromosome 1, 6531575: 6531575
46 PLEKHG5 NM_020631.4(PLEKHG5): c.1254C> G (p.Pro418=) single nucleotide variant Conflicting interpretations of pathogenicity rs139904931 GRCh38 Chromosome 1, 6471515: 6471515
47 PLEKHG5 NM_020631.4(PLEKHG5): c.2160G> A (p.Glu720=) single nucleotide variant Conflicting interpretations of pathogenicity rs867638588 GRCh37 Chromosome 1, 6529191: 6529191
48 PLEKHG5 NM_020631.4(PLEKHG5): c.2160G> A (p.Glu720=) single nucleotide variant Conflicting interpretations of pathogenicity rs867638588 GRCh38 Chromosome 1, 6469131: 6469131
49 PLEKHG5 NM_020631.4(PLEKHG5): c.440-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201656051 GRCh37 Chromosome 1, 6534234: 6534234
50 PLEKHG5 NM_020631.4(PLEKHG5): c.440-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201656051 GRCh38 Chromosome 1, 6474174: 6474174

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 8.8 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 ATP binding GO:0005524 9.33 GARS IGHMBP2 SETX
2 helicase activity GO:0004386 8.96 IGHMBP2 SETX
3 DNA helicase activity GO:0003678 8.62 IGHMBP2 SETX

Sources for Distal Hereditary Motor Neuropathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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