MCID: DST030
MIFTS: 20

Distal Hereditary Motor Neuropathy, Type V

Categories: Neuronal diseases, Rare diseases, Muscle 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 spinal muscular atrophy, distal, autosomal recessive, 5. 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

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 Neuropathy, Type V via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuronopathy, distal hereditary motor, type va 31.4 BSCL2 GARS
2 spinal muscular atrophy, distal, autosomal recessive, 5 11.3
3 neuropathy 10.3
4 distal hereditary motor neuropathies 10.3
5 spinal muscular atrophy 10.3
6 muscular atrophy 10.3
7 spastic paraplegia 17, autosomal dominant 10.0
8 charcot-marie-tooth disease, axonal, type 2e 9.2 BSCL2 GARS
9 hereditary spastic paraplegia 9.2 BSCL2 REEP1
10 charcot-marie-tooth disease 8.9 BSCL2 GARS

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
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. ( 22703882 )
2012
2
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. ( 23279345 )
2012
3
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. ( 20598714 )
2010
4
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 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh37 Chromosome 11, 62469971: 62469971
2 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.998A> T (p.Glu333Val) single nucleotide variant Likely pathogenic rs863224873 GRCh38 Chromosome 7, 30612212: 30612212
12 GARS NM_002047.3(GARS): c.998A> T (p.Glu333Val) single nucleotide variant Likely pathogenic rs863224873 GRCh37 Chromosome 7, 30651828: 30651828
13 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh37 Chromosome 7, 30634661: 30634661
14 GARS NM_002047.3(GARS): c.124C> G (p.Pro42Ala) single nucleotide variant Benign rs1049402 GRCh38 Chromosome 7, 30595045: 30595045
15 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh38 Chromosome 7, 30633729: 30633729
16 GARS NM_002047.3(GARS): c.2095-6C> T single nucleotide variant Benign rs2240401 GRCh37 Chromosome 7, 30673345: 30673345
17 GARS NM_002047.3(GARS): c.-45C> G single nucleotide variant not provided rs903029869 GRCh37 Chromosome 7, 30634493: 30634493
18 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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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