MCID: DST022
MIFTS: 28

Distal Hereditary Motor Neuropathy Type V malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories

Aliases & Classifications for Distal Hereditary Motor Neuropathy Type V

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Sources:
22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Distal Hereditary Motor Neuropathy Type V:

Name: Distal Hereditary Motor Neuropathy Type V 22
Distal Hereditary Motor Neuronopathy, Type V 23 24
Dhmn-V 22 23
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 23
Neuronopathy, Distal Hereditary Motor, Type V 65
Distal Hereditary Motor Neuronopathy Type 5 23
Distal Hereditary Motor Neuropathy, Type V 23
 
Distal Hereditary Motor Neuropathy Type 5 51
Spinal Muscular Atrophy, Distal Type V 23
Distal Spinal Muscular Atrophy, Type V 23
Distal Spinal Muscular Atrophy Type 5 51
Hmn V 23
Dhmn5 51
Dsmav 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
distal hereditary motor neuropathy type 5:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood


External Ids:

Orphanet51 139536
ICD10 via Orphanet28 G12.2

Summaries for Distal Hereditary Motor Neuropathy Type V

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Genetics Home Reference:23 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 v, is related to charcot-marie-tooth disease, type 2d and distal hereditary motor neuropathy. An important gene associated with Distal Hereditary Motor Neuropathy Type V is GARS (Glycyl-TRNA Synthetase). Affiliated tissues include spinal cord, and related mouse phenotype behavior/neurological.

Related Diseases for Distal Hereditary Motor Neuropathy Type V

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Graphical network of diseases related to Distal Hereditary Motor Neuropathy Type V:



Diseases related to distal hereditary motor neuropathy type v

Symptoms for Distal Hereditary Motor Neuropathy Type V

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Drugs & Therapeutics for Distal Hereditary Motor Neuropathy Type V

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Interventional clinical trials:

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

Genetic Tests for Distal Hereditary Motor Neuropathy Type V

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Genetic tests related to Distal Hereditary Motor Neuropathy Type V:

id Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuropathy Type V22
2 Distal Hereditary Motor Neuronopathy Type 524

Anatomical Context for Distal Hereditary Motor Neuropathy Type V

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

33
Spinal cord

Animal Models for Distal Hereditary Motor Neuropathy Type V or affiliated genes

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MGI Mouse Phenotypes related to Distal Hereditary Motor Neuropathy Type V:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5BSCL2, GARS, REEP1

Publications for Distal Hereditary Motor Neuropathy Type V

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Articles related to Distal Hereditary Motor Neuropathy Type V:

idTitleAuthorsYear
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

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Clinvar genetic disease variations for Distal Hereditary Motor Neuropathy Type V:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GARSNM_002047.2(GARS): c.998A> T (p.Glu333Val)single nucleotide variantLikely pathogenicGRCh37Chr 7, 30651828: 30651828
2REEP1NM_022912.2(REEP1): c.304-2A> Gsingle nucleotide variantPathogenicrs387907242GRCh37Chr 2, 86479195: 86479195
3NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser)single nucleotide variantPathogenicrs137852972GRCh37Chr 11, 62469971: 62469971
4GARSNM_002047.2(GARS): c.548T> C (p.Leu183Pro)single nucleotide variantPathogenicrs137852644GRCh37Chr 7, 30640795: 30640795
5GARSNM_002047.2(GARS): c.374A> G (p.Glu125Gly)single nucleotide variantPathogenicrs137852645GRCh37Chr 7, 30639612: 30639612
6GARSNM_002047.2(GARS): c.1738G> C (p.Gly580Arg)single nucleotide variantPathogenicrs137852646GRCh37Chr 7, 30668214: 30668214
7GARSNM_002047.2(GARS): c.1660G> A (p.Asp554Asn)single nucleotide variantPathogenicrs137852647GRCh37Chr 7, 30665896: 30665896

Expression for genes affiliated with Distal Hereditary Motor Neuropathy Type V

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

Pathways for genes affiliated with Distal Hereditary Motor Neuropathy Type V

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GO Terms for genes affiliated with Distal Hereditary Motor Neuropathy Type V

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Sources for Distal Hereditary Motor Neuropathy Type V

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet