DSMAV
MCID: DST022
MIFTS: 24

Distal Hereditary Motor Neuropathy Type V (DSMAV) malady

Genetic diseases, Neuronal diseases, Muscle diseases, Rare diseases categories
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Summaries for Distal Hereditary Motor Neuropathy Type V

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MalaCards based summary: Distal Hereditary Motor Neuropathy Type V, also known as DSMAV, 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 BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)). Related mouse phenotype behavior/neurological.

Aliases & Classifications for Distal Hereditary Motor Neuropathy Type V

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Distal Hereditary Motor Neuropathy Type V, Aliases & Descriptions:

Name: Distal Hereditary Motor Neuropathy Type V 20
Dsmav 21 62
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance 21
Distal Hereditary Motor Neuronopathy, Type V 21
Distal Hereditary Motor Neuronopathy Type 5 21
 
Distal Hereditary Motor Neuropathy, Type V 21
Distal Spinal Muscular Atrophy, Type V 21
Spinal Muscular Atrophy, Distal Type V 21
Dhmn-V 21
Hmn V 21


Classifications:

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


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

Anatomical Context for Distal Hereditary Motor Neuropathy Type V

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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:

36
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 Name Type Significance SNP ID Assembly Location
1NM_001122955.3(BSCL2): c.455A> G (p.Asn152Ser)single nucleotide variantPathogenicrs137852972GRCh37Chr 11, 62469971: 62469971
2GARSNM_002047.2(GARS): c.548T> C (p.Leu183Pro)single nucleotide variantPathogenicrs137852644GRCh37Chr 7, 30640795: 30640795
3GARSNM_002047.2(GARS): c.374A> G (p.Glu125Gly)single nucleotide variantPathogenicrs137852645GRCh37Chr 7, 30639612: 30639612
4GARSNM_002047.2(GARS): c.1738G> C (p.Gly580Arg)single nucleotide variantPathogenicrs137852646GRCh37Chr 7, 30668214: 30668214
5GARSNM_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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Expression patterns in normal tissues for genes affiliated with Distal Hereditary Motor Neuropathy Type V

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082198.5GARS, REEP1, BSCL2

Products for genes affiliated with Distal Hereditary Motor Neuropathy Type V

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  • Antibodies
  • Proteins
  • Lysates

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet