DHMN5
MCID: DST022
MIFTS: 25

Distal Hereditary Motor Neuropathy Type V (DHMN5) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Distal Hereditary Motor Neuropathy Type V

Aliases & Descriptions for Distal Hereditary Motor Neuropathy Type V:

Name: Distal Hereditary Motor Neuropathy Type V 24 56
Dhmn-V 24 25 52
Distal Hereditary Motor Neuronopathy, Type V 25 29
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 25
Neuronopathy, Distal Hereditary Motor, Type V 69
Distal Hereditary Motor Neuronopathy Type 5 25
Neuropathy, Distal Hereditary Motor, Type V 13
Distal Hereditary Motor Neuropathy, Type V 25
Distal Hereditary Motor Neuropathy Type 5 56
Distal Spinal Muscular Atrophy, Type V 25
Spinal Muscular Atrophy, Distal Type V 25
Distal Spinal Muscular Atrophy Type 5 56
Distal Hmn V 56
Dsmav 25
Hmn V 25
Dhmn5 56

Characteristics:

Orphanet epidemiological data:

56
distal hereditary motor neuropathy type 5
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA139536
ICD10 via Orphanet 34 G12.2

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 dhmn-v, is related to spinal muscular atrophy, distal, autosomal recessive, 5 and neuropathy, distal hereditary motor, type va. 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:

id Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type 5 29
2 Distal Hereditary Motor Neuropathy Type V 24

Anatomical Context for Distal Hereditary Motor Neuropathy Type V

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

39
Spinal Cord

Publications for Distal Hereditary Motor Neuropathy Type V

Articles related to Distal Hereditary Motor Neuropathy Type V:

id Title Authors Year
1
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. ( 23279345 )
2012
2
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. ( 22703882 )
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
id 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 GARS NM_002047.3(GARS): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs137852644 GRCh37 Chromosome 7, 30640795: 30640795
3 GARS NM_002047.3(GARS): c.374A> G (p.Glu125Gly) single nucleotide variant Pathogenic rs137852645 GRCh37 Chromosome 7, 30639612: 30639612
4 GARS NM_002047.3(GARS): c.1738G> C (p.Gly580Arg) single nucleotide variant Pathogenic rs137852646 GRCh37 Chromosome 7, 30668214: 30668214
5 GARS NM_002047.3(GARS): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs137852647 GRCh37 Chromosome 7, 30665896: 30665896

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
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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