DHMN5
MCID: DST030
MIFTS: 21

Distal Hereditary Motor Neuropathy, Type V (DHMN5)

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Distal Hereditary Motor Neuropathy, Type V

MalaCards integrated aliases for Distal Hereditary Motor Neuropathy, Type V:

Name: Distal Hereditary Motor Neuropathy, Type V 25
Distal Hereditary Motor Neuronopathy Type 5 25 29 6
Dhmn-V 25 55
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 25
Neuronopathy, Distal Hereditary Motor, Type V 73
Distal Hereditary Motor Neuronopathy, Type V 25
Neuropathy, Distal Hereditary Motor, Type V 13
Distal Hereditary Motor Neuropathy Type 5 59
Distal Hereditary Motor Neuropathy Type V 59
Distal Spinal Muscular Atrophy, Type V 25
Spinal Muscular Atrophy, Distal Type V 25
Distal Spinal Muscular Atrophy Type 5 59
Distal Hmn V 59
Dsmav 25
Hmn V 25
Dhmn5 59

Characteristics:

Orphanet epidemiological data:

59
distal hereditary motor neuropathy type 5
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA139536
UMLS via Orphanet 74 C1833308
ICD10 via Orphanet 34 G12.2
UMLS 73 C1833308

Summaries for Distal Hereditary Motor Neuropathy, Type V

Genetics Home Reference : 25 Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet.

MalaCards based summary : Distal Hereditary Motor Neuropathy, Type V, also known as distal hereditary motor neuronopathy type 5, is related to neuronopathy, distal hereditary motor, type va and charcot-marie-tooth disease. An important gene associated with Distal Hereditary Motor Neuropathy, Type V is GARS (Glycyl-TRNA Synthetase). Affiliated tissues include spinal cord.

Related Diseases for Distal Hereditary Motor Neuropathy, Type V

Graphical network of the top 20 diseases related to Distal Hereditary Motor Neuropathy, Type V:



Diseases related to Distal Hereditary Motor Neuropathy, Type V

Symptoms & Phenotypes for Distal Hereditary Motor Neuropathy, Type V

Drugs & Therapeutics for Distal Hereditary Motor Neuropathy, Type V

Search Clinical Trials , NIH Clinical Center for Distal Hereditary Motor Neuropathy, Type V

Genetic Tests for Distal Hereditary Motor Neuropathy, Type V

Genetic tests related to Distal Hereditary Motor Neuropathy, Type V:

# Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type 5 29 BSCL2 GARS

Anatomical Context for Distal Hereditary Motor Neuropathy, Type V

MalaCards organs/tissues related to Distal Hereditary Motor Neuropathy, Type V:

41
Spinal Cord

Publications for Distal Hereditary Motor Neuropathy, Type V

Articles related to Distal Hereditary Motor Neuropathy, Type V:

# Title Authors Year
1
A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V. ( 30083128 )
2018
2
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. ( 22703882 )
2012
3
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. ( 23279345 )
2012
4
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. ( 20598714 )
2010
5
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. ( 16769947 )
2006

Variations for Distal Hereditary Motor Neuropathy, Type V

ClinVar genetic disease variations for Distal Hereditary Motor Neuropathy, Type V:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2; HNRNPUL2-BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh37 Chromosome 11, 62469971: 62469971
2 BSCL2; HNRNPUL2-BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh38 Chromosome 11, 62702499: 62702499
3 GARS NM_002047.3(GARS): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs137852644 GRCh37 Chromosome 7, 30640795: 30640795
4 GARS NM_002047.3(GARS): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs137852644 GRCh38 Chromosome 7, 30601179: 30601179
5 GARS NM_002047.3(GARS): c.374A> G (p.Glu125Gly) single nucleotide variant Pathogenic rs137852645 GRCh37 Chromosome 7, 30639612: 30639612
6 GARS NM_002047.3(GARS): c.374A> G (p.Glu125Gly) single nucleotide variant Pathogenic rs137852645 GRCh38 Chromosome 7, 30599996: 30599996
7 GARS NM_002047.3(GARS): c.1738G> C (p.Gly580Arg) single nucleotide variant Pathogenic rs137852646 GRCh37 Chromosome 7, 30668214: 30668214
8 GARS NM_002047.3(GARS): c.1738G> C (p.Gly580Arg) single nucleotide variant Pathogenic rs137852646 GRCh38 Chromosome 7, 30628598: 30628598
9 GARS NM_002047.3(GARS): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs137852647 GRCh37 Chromosome 7, 30665896: 30665896
10 GARS NM_002047.3(GARS): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs137852647 GRCh38 Chromosome 7, 30626280: 30626280
11 GARS NM_002047.3(GARS): c.222+5C> T single nucleotide variant Benign rs2072236 GRCh37 Chromosome 7, 30634764: 30634764
12 GARS NM_002047.3(GARS): c.222+5C> T single nucleotide variant Benign rs2072236 GRCh38 Chromosome 7, 30595148: 30595148
13 GARS NM_002047.3(GARS): c.93G> C (p.Leu31=) single nucleotide variant Benign rs2529438 GRCh37 Chromosome 7, 30634630: 30634630
14 GARS NM_002047.3(GARS): c.93G> C (p.Leu31=) single nucleotide variant Benign rs2529438 GRCh38 Chromosome 7, 30595014: 30595014
15 GARS NM_002047.3(GARS): c.998A> T (p.Glu333Val) single nucleotide variant Likely pathogenic rs863224873 GRCh38 Chromosome 7, 30612212: 30612212
16 GARS NM_002047.3(GARS): c.998A> T (p.Glu333Val) single nucleotide variant Likely pathogenic rs863224873 GRCh37 Chromosome 7, 30651828: 30651828
17 GARS NM_002047.3(GARS): c.2042C> T (p.Pro681Leu) single nucleotide variant Uncertain significance rs879254346 GRCh37 Chromosome 7, 30672001: 30672001
18 GARS NM_002047.3(GARS): c.2042C> T (p.Pro681Leu) single nucleotide variant Uncertain significance rs879254346 GRCh38 Chromosome 7, 30632385: 30632385
19 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh37 Chromosome 7, 30634661: 30634661
20 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh38 Chromosome 7, 30595045: 30595045
21 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh38 Chromosome 7, 30633729: 30633729
22 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh37 Chromosome 7, 30673345: 30673345
23 GARS NM_002047.3(GARS): c.1415A> G (p.His472Arg) single nucleotide variant Pathogenic rs1060502838 GRCh38 Chromosome 7, 30621448: 30621448
24 GARS NM_002047.3(GARS): c.1415A> G (p.His472Arg) single nucleotide variant Pathogenic rs1060502838 GRCh37 Chromosome 7, 30661064: 30661064
25 GARS NM_002047.3(GARS): c.-45C> G single nucleotide variant not provided rs903029869 GRCh37 Chromosome 7, 30634493: 30634493
26 GARS NM_002047.3(GARS): c.-45C> G single nucleotide variant not provided rs903029869 GRCh38 Chromosome 7, 30594877: 30594877

Expression for Distal Hereditary Motor Neuropathy, Type V

Search GEO for disease gene expression data for Distal Hereditary Motor Neuropathy, Type V.

Pathways for Distal Hereditary Motor Neuropathy, Type V

GO Terms for Distal Hereditary Motor Neuropathy, Type V

Sources for Distal Hereditary Motor Neuropathy, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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