SMAFK
MCID: ATS424
MIFTS: 13

Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy (SMAFK)

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

MalaCards integrated aliases for Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy:

Name: Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy 12 15
Autosomal Dominant Late-Onset Spinal Muscular Atrophy, Finkel Type 12
Autosomal Dominant Adult Proximal Spinal Muscular Atrophy 12
Autosomal Dominant Adult-Onset Proximal Sma 12
Finkel Late-Adult Type Sma 12
Finkel Disease 12
Smafk 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111194

Summaries for Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Disease Ontology : 12 A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has material basis in heterozygous mutation in VAPB on 20q13.

MalaCards based summary : Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy, also known as autosomal dominant late-onset spinal muscular atrophy, finkel type, is related to spinal muscular atrophy, late-onset, finkel type and spinal muscular atrophy with lower extremity predominance. An important gene associated with Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy is MAFK (MAF BZIP Transcription Factor K), and among its related pathways/superpathways are NRF2 pathway and Tacrolimus/Cyclosporine Pathway, Pharmacodynamics.

Related Diseases for Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Diseases in the Proximal Spinal Muscular Atrophy family:

Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy Autosomal Dominant Proximal Spinal Muscular Atrophy

Diseases related to Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, late-onset, finkel type 11.8
2 spinal muscular atrophy with lower extremity predominance 9.6 VAPB SGSM1

Symptoms & Phenotypes for Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Drugs & Therapeutics for Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

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

Genetic Tests for Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Anatomical Context for Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Publications for Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Variations for Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Expression for Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

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

Pathways for Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Pathways related to Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.12 MAFF GCLC
2 10.44 MAFK MAFF JDP2

GO Terms for Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Molecular functions related to Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.8 MAFK MAFF JDP2

Sources for Autosomal Dominant Adult-Onset 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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