MCID: ATS433
MIFTS: 12

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 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G12.1
Orphanet 58 ORPHA211037

Summaries for Autosomal Dominant Proximal Spinal Muscular Atrophy

MalaCards based summary : Autosomal Dominant Proximal Spinal Muscular Atrophy is related to spinal muscular atrophy and proximal spinal muscular atrophy. An important gene associated with Autosomal Dominant Proximal Spinal Muscular Atrophy is LMNA (Lamin A/C). Affiliated tissues include heart.

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

MalaCards organs/tissues related to Autosomal Dominant Proximal Spinal Muscular Atrophy:

40
Heart

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. 61
22088787 2012
2
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. 61
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

Cellular components related to Autosomal Dominant Proximal Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 8.62 SETX LMNA

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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