MCID: SPN196
MIFTS: 10

Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant malady

Categories: Genetic diseases (common), Muscle diseases

Aliases & Classifications for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Aliases & Descriptions for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant:

Name: Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant 24 12
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 24
Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant 24
 
Kugelberg-Welander Syndrome, Autosomal Dominant 24
Sma-Led 24
Smaled 24

Classifications:



Summaries for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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MalaCards based summary: Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant, also known as spinal muscular atrophy, childhood, proximal, autosomal dominant, is related to spinal muscular atrophy, lower extremity-predominant 1, ad and autosomal dominant childhood-onset proximal spinal muscular atrophy. An important gene associated with Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1).

Related Diseases for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Diseases related to Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy, lower extremity-predominant 1, ad10.9
2autosomal dominant childhood-onset proximal spinal muscular atrophy10.8

Symptoms & Phenotypes for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Drugs & Therapeutics for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Drugs for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical SolutionsPhase 27793
2Interleukin 1 Receptor Antagonist ProteinPhase 296
3Antirheumatic AgentsPhase 210627

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral SclerosisUnknown statusNCT01277315Phase 2

Search NIH Clinical Center for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

Genetic Tests for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Genetic tests related to Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant24 DYNC1H1

Anatomical Context for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Publications for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Variations for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Expression for genes affiliated with Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Search GEO for disease gene expression data for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant.

Pathways for genes affiliated with Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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GO Terms for genes affiliated with Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Sources for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet