MCID: SPN196

Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant malady

Genetic diseases (common), Muscle diseases categories

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

About this section

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

Name: Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant 22
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 22
Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant 22
 
Kugelberg-Welander Syndrome, Autosomal Dominant 22
Sma-Led 22
Smaled 22


Classifications:



Summaries for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

About this section
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

About this section

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, ad10.1
2autosomal dominant childhood-onset proximal spinal muscular atrophy10.1

Symptoms for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

About this section

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

About this section

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

About this section

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

id Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant22 DYNC1H1

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

About this section

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

About this section

Publications for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

About this section

Variations for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

About this section

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

About this section
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

About this section

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

About this section

Sources for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet