MCID: ATS433
MIFTS: 11

Autosomal Dominant Proximal Spinal Muscular Atrophy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Proximal Spinal Muscular Atrophy

MalaCards integrated aliases for Autosomal Dominant Proximal Spinal Muscular Atrophy:

Name: Autosomal Dominant Proximal Spinal Muscular Atrophy 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G12.1
Orphanet 59 ORPHA211037

Summaries for Autosomal Dominant Proximal Spinal Muscular Atrophy

MalaCards based summary : Autosomal Dominant Proximal Spinal Muscular Atrophy is related to proximal spinal muscular atrophy and spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant. An important gene associated with Autosomal Dominant Proximal Spinal Muscular Atrophy is LMNA (Lamin A/C).

Related Diseases for Autosomal Dominant Proximal Spinal Muscular Atrophy

Graphical network of the top 20 diseases related to Autosomal Dominant Proximal Spinal Muscular Atrophy:



Diseases related to Autosomal Dominant Proximal Spinal Muscular Atrophy

Symptoms & Phenotypes for Autosomal Dominant Proximal Spinal Muscular Atrophy

Drugs & Therapeutics for Autosomal Dominant Proximal Spinal Muscular Atrophy

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Proximal Spinal Muscular Atrophy

Genetic Tests for Autosomal Dominant Proximal Spinal Muscular Atrophy

Anatomical Context for Autosomal Dominant Proximal Spinal Muscular Atrophy

Publications for Autosomal Dominant Proximal Spinal Muscular Atrophy

Articles related to Autosomal Dominant Proximal Spinal Muscular Atrophy:

# Title Authors PMID Year
1
SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. 38
22088787 2012
2
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. 38
17136397 2007

Variations for Autosomal Dominant Proximal Spinal Muscular Atrophy

Expression for Autosomal Dominant Proximal Spinal Muscular Atrophy

Search GEO for disease gene expression data for Autosomal Dominant Proximal Spinal Muscular Atrophy.

Pathways for Autosomal Dominant Proximal Spinal Muscular Atrophy

GO Terms for Autosomal Dominant Proximal Spinal Muscular Atrophy

Sources for Autosomal Dominant Proximal Spinal Muscular Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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