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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33MalaCards
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MalaCards: Distal Hereditary Motor Neuropathy Type V, also known as spinal muscular atrophy, distal, with upper limb predominance, is related to distal hereditary motor neuropathy and distal spinal muscular atrophy, type v. 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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21Genetics Home Reference, 62UMLS, 20GeneTests
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Classifications:

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


Aliases & Descriptions:

distal hereditary motor neuropathy type v 20
spinal muscular atrophy, distal, with upper limb predominance 21
neuronopathy, distal hereditary motor, type v 62
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
dsmav 21


Related Diseases for Distal Hereditary Motor Neuropathy Type V

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Distal Hereditary Motor Neuropathy Type V

Genetic Tests for Distal Hereditary Motor Neuropathy Type V

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20GeneTests
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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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37MGI
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MGI Mouse Phenotypes related to Distal Hereditary Motor Neuropathy Type V:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5GARS, REEP1, BSCL2

Publications for Distal Hereditary Motor Neuropathy Type V

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52PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Distal Hereditary Motor Neuropathy Type V:

1
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Distal Hereditary Motor Neuropathy Type V

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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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16Gene Ontology
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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
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  • Antibodies

Sources for Distal Hereditary Motor Neuropathy Type V

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet