MCID: DST022
MIFTS: 27

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:
23GeneTests, 24Genetics Home Reference, 48Novoseek, 25GTR, 52Orphanet, 12diseasecard, 66UMLS, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Distal Hereditary Motor Neuropathy Type V:

Name: Distal Hereditary Motor Neuropathy Type V 23
Dhmn-V 23 24 48
Distal Hereditary Motor Neuronopathy, Type V 24 25
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 24
Neuronopathy, Distal Hereditary Motor, Type V 66
Neuropathy, Distal Hereditary Motor, Type V 12
Distal Hereditary Motor Neuronopathy Type 5 24
Distal Hereditary Motor Neuropathy, Type V 24
 
Distal Hereditary Motor Neuropathy Type 5 52
Distal Spinal Muscular Atrophy, Type V 24
Spinal Muscular Atrophy, Distal Type V 24
Distal Spinal Muscular Atrophy Type 5 52
Dhmn5 52
Dsmav 24
Hmn V 24

Characteristics:

Orphanet epidemiological data:

52
distal hereditary motor neuropathy type 5:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood

Classifications:



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Orphanet52 ORPHA139536
ICD10 via Orphanet29 G12.2

Summaries for Distal Hereditary Motor Neuropathy Type V

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Genetics Home Reference:24 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 525
2 Distal Hereditary Motor Neuropathy Type V23

Anatomical Context for Distal Hereditary Motor Neuropathy Type V

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

34
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:

39
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
1NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser)single nucleotide variantPathogenicrs137852972GRCh37Chr 11, 62469971: 62469971

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet