MCID: SPN196
MIFTS: 10

Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant malady

Categories: Genetic diseases, Muscle diseases

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

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

Name: Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant 24 13
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

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). The drugs Pharmaceutical Solutions and Interleukin 1 Receptor Antagonist Protein have been mentioned in the context of this disorder.

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

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

id Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, lower extremity-predominant 1, ad 10.9
2 autosomal dominant childhood-onset proximal spinal muscular atrophy 10.8
3 adult spinal muscular atrophy 10.2

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

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

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2
2 Interleukin 1 Receptor Antagonist Protein Phase 2
3 Antirheumatic Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral Sclerosis Unknown status NCT01277315 Phase 2

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

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

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

id Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant 24 DYNC1H1

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

Publications for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

Variations for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

Expression for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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

Pathways for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

GO Terms for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

Sources for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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