MCID: DST022
MIFTS: 26

Distal Hereditary Motor Neuropathy Type V malady

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

Aliases & Classifications for Distal Hereditary Motor Neuropathy Type V

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 49Novoseek, 53Orphanet, 67UMLS
See all MalaCards sources

Aliases & Descriptions for Distal Hereditary Motor Neuropathy Type V:

Name: Distal Hereditary Motor Neuropathy Type V 24
Dhmn-V 24 25 49
Distal Hereditary Motor Neuronopathy, Type V 25 26
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 25
Neuronopathy, Distal Hereditary Motor, Type V 67
Neuropathy, Distal Hereditary Motor, Type V 12
Distal Hereditary Motor Neuronopathy Type 5 25
Distal Hereditary Motor Neuropathy, Type V 25
 
Distal Hereditary Motor Neuropathy Type 5 53
Distal Spinal Muscular Atrophy, Type V 25
Spinal Muscular Atrophy, Distal Type V 25
Distal Spinal Muscular Atrophy Type 5 53
Dhmn5 53
Dsmav 25
Hmn V 25

Characteristics:

Orphanet epidemiological data:

53
distal hereditary motor neuropathy type 5:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood

Classifications:



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Orphanet53 ORPHA139536
ICD10 via Orphanet30 G12.2

Summaries for Distal Hereditary Motor Neuropathy Type V

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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 neuropathy, 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, 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 Neuronopathy Type 526
2 Distal Hereditary Motor Neuropathy Type V24

Anatomical Context for Distal Hereditary Motor Neuropathy Type V

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

35
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:

40
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
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

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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
1BSCL2NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser)SNVPathogenicrs137852972GRCh37Chr 11, 62469971: 62469971
2GARSNM_002047.3(GARS): c.374A> G (p.Glu125Gly)SNVPathogenicrs137852645GRCh37Chr 7, 30639612: 30639612
3GARSNM_002047.3(GARS): c.1660G> A (p.Asp554Asn)SNVPathogenicrs137852647GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet