MCID: SPN196

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 23 12
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 23
Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant 23
 
Kugelberg-Welander Syndrome, Autosomal Dominant 23
Sma-Led 23
Smaled 23

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 autosomal dominant childhood-onset proximal spinal muscular atrophy and spinal muscular atrophy, lower extremity-predominant 1, ad. 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
1autosomal dominant childhood-onset proximal spinal muscular atrophy11.0
2spinal muscular atrophy, lower extremity-predominant 1, ad10.0

Symptoms 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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral SclerosisRecruitingNCT01277315Phase 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 Dominant23 DYNC1H1

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

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Animal Models for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant or affiliated genes

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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet