DSMAV
MCID: DST022
MIFTS: 13

Distal Hereditary Motor Neuropathy Type V (DSMAV) malady

Neuronal, Muscle categories

Summaries for Distal Hereditary Motor Neuropathy Type V

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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 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)).

Aliases & Classifications for Distal Hereditary Motor Neuropathy Type V

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21Genetics Home Reference, 61UMLS, 20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Muscle


Aliases & Descriptions:

distal hereditary motor neuropathy type v 20
spinal muscular atrophy, distal, with upper limb predominance 21
neuronopathy, distal hereditary motor, type v 61
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

Clinical Features for Distal Hereditary Motor Neuropathy Type V

Drugs & Therapeutics for Distal Hereditary Motor Neuropathy Type V

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch 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

Animal Models for Distal Hereditary Motor Neuropathy Type V or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Distal Hereditary Motor Neuropathy Type V

Genetic Variations for Distal Hereditary Motor Neuropathy Type V

Expression for genes affiliated with Distal Hereditary Motor Neuropathy Type V

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Distal Hereditary Motor Neuropathy Type V

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:0082198.5REEP1, BSCL2, GARS

Products for genes affiliated with Distal Hereditary Motor Neuropathy Type V

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Sources for Distal Hereditary Motor Neuropathy Type V

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet