MCID: SRV001
MIFTS: 24

Survival Motor Neuron Spinal Muscular Atrophy

Categories: Neuronal diseases, Muscle diseases

Aliases & Classifications for Survival Motor Neuron Spinal Muscular Atrophy

MalaCards integrated aliases for Survival Motor Neuron Spinal Muscular Atrophy:

Name: Survival Motor Neuron Spinal Muscular Atrophy 12 14
Spinal Muscular Atrophies of Childhood 12 42

Classifications:



Summaries for Survival Motor Neuron Spinal Muscular Atrophy

Disease Ontology : 12 A spinal muscular atrophy that is associated with the survival of motor neuron protein.

MalaCards based summary : Survival Motor Neuron Spinal Muscular Atrophy, also known as spinal muscular atrophies of childhood, is related to spinal muscular atrophy-3 and stargardt disease, autosomal recessive. An important gene associated with Survival Motor Neuron Spinal Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric). The drugs Hydroxyurea and Valproic Acid have been mentioned in the context of this disorder.

Related Diseases for Survival Motor Neuron Spinal Muscular Atrophy

Graphical network of the top 20 diseases related to Survival Motor Neuron Spinal Muscular Atrophy:



Diseases related to Survival Motor Neuron Spinal Muscular Atrophy

Symptoms & Phenotypes for Survival Motor Neuron Spinal Muscular Atrophy

Drugs & Therapeutics for Survival Motor Neuron Spinal Muscular Atrophy

Drugs for Survival Motor Neuron Spinal Muscular Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
2
Valproic Acid Approved, Investigational Phase 3,Phase 2 99-66-1 3121
3 Central Nervous System Depressants Phase 3,Phase 2
4 GABA Agents Phase 3,Phase 2
5 Neurotransmitter Agents Phase 3,Phase 2
6 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
7 Tranquilizing Agents Phase 3,Phase 2
8 Anticonvulsants Phase 3,Phase 2
9 Antimanic Agents Phase 3,Phase 2
10 Psychotropic Drugs Phase 3,Phase 2
11 4-phenylbutyric acid Phase 1, Phase 2
12 carnitine Nutraceutical Phase 2

Interventional clinical trials:

(show all 15)

id Name Status NCT ID Phase Drugs
1 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
2 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Recruiting NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
3 Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy Completed NCT00227266 Phase 2 Valproic Acid and Levocarnitine;Placebo
4 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Recruiting NCT02855112 Phase 1, Phase 2
5 A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Infants With Type1 Spinal Muscular Atrophy (Firefish) Recruiting NCT02913482 Phase 2 RO7034067
6 A Study of RO7034067 in Adult and Pediatric Participants With Spinal Muscular Atrophy Recruiting NCT03032172 Phase 2 RO7034067
7 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I Terminated NCT00439218 Phase 1, Phase 2 sodium phenylbutyrate
8 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or III Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
9 Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Active, not recruiting NCT02122952 Phase 1
10 Natural History of Spinal Muscular Atrophy Type 1 in Taiwan Completed NCT02466529
11 SMN Copy Number Distribution in Mali, West Africa Completed NCT01059240
12 Measuring Levels of SMN in Blood Samples of SMA Patients Completed NCT00061607
13 Ability of Muscle Imaging and Motor Function Measure (MFM) to Detect Changes in Disease Progression in Ambulant Spinal Muscular Atrophy Patients Compared to Healthy Volunteers. Completed NCT02044029
14 Clinical Study of Spinal Muscular Atrophy Active, not recruiting NCT00443066
15 Mechanisms of Cell Death in Spinal Muscular Atrophy Enrolling by invitation NCT01754441

Search NIH Clinical Center for Survival Motor Neuron Spinal Muscular Atrophy

Cochrane evidence based reviews: spinal muscular atrophies of childhood

Genetic Tests for Survival Motor Neuron Spinal Muscular Atrophy

Anatomical Context for Survival Motor Neuron Spinal Muscular Atrophy

Publications for Survival Motor Neuron Spinal Muscular Atrophy

Variations for Survival Motor Neuron Spinal Muscular Atrophy

Expression for Survival Motor Neuron Spinal Muscular Atrophy

Search GEO for disease gene expression data for Survival Motor Neuron Spinal Muscular Atrophy.

Pathways for Survival Motor Neuron Spinal Muscular Atrophy

GO Terms for Survival Motor Neuron Spinal Muscular Atrophy

Cellular components related to Survival Motor Neuron Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.67 MAP1B SMN1 SMN2 ZPR1
2 neuron projection GO:0043005 9.58 NAIP SMN1 SMN2
3 Z disc GO:0030018 9.46 SMN1 SMN2
4 perikaryon GO:0043204 9.46 NAIP SMN1 SMN2 ZPR1
5 cytoplasmic ribonucleoprotein granule GO:0036464 9.43 SMN1 SMN2
6 Cajal body GO:0015030 9.43 SMN1 SMN2 ZPR1
7 SMN-Sm protein complex GO:0034719 9.32 SMN1 SMN2
8 SMN complex GO:0032797 9.13 SMN1 SMN2 ZPR1
9 Gemini of coiled bodies GO:0097504 8.8 SMN1 SMN2 ZPR1

Biological processes related to Survival Motor Neuron Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.58 SMN1 SMN2 ZPR1
2 RNA splicing GO:0008380 9.54 SMN1 SMN2 ZPR1
3 spliceosomal snRNP assembly GO:0000387 9.32 SMN1 SMN2
4 spliceosomal complex assembly GO:0000245 9.26 SMN1 SMN2
5 nervous system development GO:0007399 9.26 MAP1B NAIP SMN1 SMN2
6 nuclear import GO:0051170 9.16 SMN1 SMN2
7 DNA-templated transcription, termination GO:0006353 8.62 SMN1 SMN2

Sources for Survival Motor Neuron Spinal Muscular Atrophy

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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