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:
22GeneTests, 23Genetics Home Reference, 65UMLS, 24GTR, 51Orphanet, 28ICD10 via Orphanet
See all MalaCards 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
Dsmav 23
Hmn V 23
Dhmn5 51

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 139536
ICD10 via Orphanet28 G12.2
UMLS65 C1833308

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 neuropathy, congenital hypomyelinating 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, uterus and t cells, 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

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, Uterus, T cells

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
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
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