MCID: DST022
MIFTS: 28

Distal Hereditary Motor Neuropathy Type V malady

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

Summaries for Distal Hereditary Motor Neuropathy Type V

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Genetics Home Reference:21 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 distal hereditary motor neuropathy 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, and related mouse phenotype behavior/neurological.

Aliases & Classifications for Distal Hereditary Motor Neuropathy Type V

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Sources:
21Genetics Home Reference, 60UMLS, 20GeneTests, 22GTR, 47Orphanet, 26ICD10 via Orphanet
See all sources

Distal Hereditary Motor Neuropathy Type V, Aliases & Descriptions:

Name: Distal Hereditary Motor Neuropathy Type V 20
Distal Hereditary Motor Neuronopathy, Type V 21 22
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 21
Neuronopathy, Distal Hereditary Motor, Type V 60
Distal Hereditary Motor Neuronopathy Type 5 21
Distal Hereditary Motor Neuropathy, Type V 21
Distal Hereditary Motor Neuropathy Type 5 47
 
Spinal Muscular Atrophy, Distal Type V 21
Distal Spinal Muscular Atrophy, Type V 21
Distal Spinal Muscular Atrophy Type 5 47
Dhmn-V 21
Dsmav 21
Hmn V 21
Dhmn5 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

47
distal hereditary motor neuropathy type 5:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood


External Ids:

Orphanet47 139536
ICD10 via Orphanet26 G12.2

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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Drug clinical trials:

Search ClinicalTrials for Distal Hereditary Motor Neuropathy Type V

Search 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 V20
2 Distal Hereditary Motor Neuronopathy Type 522

Anatomical Context for Distal Hereditary Motor Neuropathy Type V

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

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5GARS, REEP1, BSCL2

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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1REEP1NM_001164730.1(REEP1): c.325-2A> Gsingle nucleotide variantPathogenicrs387907242GRCh37Chr 2, 86479195: 86479195
2NM_001122955.3(BSCL2): c.455A> G (p.Asn152Ser)single nucleotide variantPathogenicrs137852972GRCh37Chr 11, 62469971: 62469971
3GARSNM_002047.2(GARS): c.548T> C (p.Leu183Pro)single nucleotide variantPathogenicrs137852644GRCh37Chr 7, 30640795: 30640795
4GARSNM_002047.2(GARS): c.374A> G (p.Glu125Gly)single nucleotide variantPathogenicrs137852645GRCh37Chr 7, 30639612: 30639612
5GARSNM_002047.2(GARS): c.1738G> C (p.Gly580Arg)single nucleotide variantPathogenicrs137852646GRCh37Chr 7, 30668214: 30668214
6GARSNM_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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Compounds 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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Biological processes related to Distal Hereditary Motor Neuropathy Type V according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00082198.5GARS, REEP1, BSCL2

Products for genes affiliated with Distal Hereditary Motor Neuropathy Type V

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  • Antibodies
  • Proteins
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  • Proteins
  • Kits and Assays

Sources for Distal Hereditary Motor Neuropathy Type V

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet