MCID: PRX014
MIFTS: 22

Proximal Spinal Muscular Atrophy malady

Muscle diseases category

Summaries for Proximal Spinal Muscular Atrophy

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32MalaCards
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MalaCards: Proximal Spinal Muscular Atrophy is related to muscular atrophy and spinal muscular atrophy. An important gene associated with Proximal Spinal Muscular Atrophy is NAIP (NLR family, apoptosis inhibitory protein). The compounds aclarubicin and phenylbutyrate have been mentioned in the context of this disorder. Related mouse phenotypes are limbs/digits/tail and nervous system.

Aliases & Classifications for Proximal Spinal Muscular Atrophy

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42NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

proximal spinal muscular atrophy 42


Related Diseases for Proximal Spinal Muscular Atrophy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Proximal Spinal Muscular Atrophy:



Diseases related to proximal spinal muscular atrophy

Clinical Features for Proximal Spinal Muscular Atrophy

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Drugs & Therapeutics for Proximal Spinal Muscular Atrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Proximal Spinal Muscular Atrophy

Drug clinical trials:

Search ClinicalTrials for Proximal Spinal Muscular Atrophy

Search NIH Clinical Center for Proximal Spinal Muscular Atrophy

Search CenterWatch for Proximal Spinal Muscular Atrophy

Genetic Tests for Proximal Spinal Muscular Atrophy

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Anatomical Context for Proximal Spinal Muscular Atrophy

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Animal Models for Proximal Spinal Muscular Atrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Proximal Spinal Muscular Atrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.0APOE, CHKB, MAP1B, LMNA, SMN1
2MP:00036317.8SMN1, APOE, CHKB, MAP1B, LMNA, NAIP
3MP:00053867.5SMN1, LMNA, APOE, VAPB, MAP1B, CHKB

Publications for Proximal Spinal Muscular Atrophy

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Genetic Variations for Proximal Spinal Muscular Atrophy

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Expression for genes affiliated with Proximal Spinal Muscular Atrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Proximal Spinal Muscular Atrophy

Search GEO for disease gene expression data for Proximal Spinal Muscular Atrophy.

Pathways for genes affiliated with Proximal Spinal Muscular Atrophy

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Compounds for genes affiliated with Proximal Spinal Muscular Atrophy

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Proximal Spinal Muscular Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1aclarubicin449.7SMN2, SMN1
2phenylbutyrate449.7SMN2, SMN1
3gemfibrozil44 28 1111.6APOE, CHKB
4bezafibrate44 28 1111.5CHKB, APOE
5guanidine44 11 2411.4APOE, CHKB
6alpha tocopherol449.4APOE, CHKB, SETX
7lovastatin44 49 59 28 1113.3LMNA, CHKB, APOE
8spec-t449.2APOE, CHKB
9arginine448.7SMN1, LMNA, CHKB, APOE

GO Terms for genes affiliated with Proximal Spinal Muscular Atrophy

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16Gene Ontology
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Cellular components related to Proximal Spinal Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.1SMN2, SMNDC1, SETX, LMNA, NAIP, CHKB

Biological processes related to Proximal Spinal Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of axon extensionGO:0457739.3MAP1B, APOE
2cell deathGO:0082198.3SMN2, SETX, VAPB, APOE

Molecular functions related to Proximal Spinal Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.1LMNA, VAPB, MAP1B

Products for genes affiliated with Proximal Spinal Muscular Atrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Proximal Spinal Muscular Atrophy

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet