MCID: MYC030
MIFTS: 11

Myoclonic Epilepsy Myopathy Sensory Ataxia

Aliases & Classifications for Myoclonic Epilepsy Myopathy Sensory Ataxia

MalaCards integrated aliases for Myoclonic Epilepsy Myopathy Sensory Ataxia:

Name: Myoclonic Epilepsy Myopathy Sensory Ataxia 25 29 6
Spinocerebellar Ataxia with Epilepsy 25 73
Memsa 25
Scae 25

External Ids:

UMLS 73 C1843852

Summaries for Myoclonic Epilepsy Myopathy Sensory Ataxia

Genetics Home Reference : 25 Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. The signs and symptoms of MEMSA typically appear during young adulthood. This condition had previously been known as spinocerebellar ataxia with epilepsy (SCAE).

MalaCards based summary : Myoclonic Epilepsy Myopathy Sensory Ataxia, also known as spinocerebellar ataxia with epilepsy, is related to sensory ataxic neuropathy, dysarthria, and ophthalmoparesis and multiple system atrophy 1. An important gene associated with Myoclonic Epilepsy Myopathy Sensory Ataxia is POLG (DNA Polymerase Gamma, Catalytic Subunit). Affiliated tissues include brain.

Related Diseases for Myoclonic Epilepsy Myopathy Sensory Ataxia

Diseases related to Myoclonic Epilepsy Myopathy Sensory Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 31.5 MIR6766 POLG
2 multiple system atrophy 1 10.0
3 camptocormism 9.5 MIR6766 POLG
4 mitochondrial dna depletion syndrome 4b 9.4 MIR6766 POLG
5 mitochondrial dna depletion syndrome 1 9.2 MIR6766 POLG
6 autosomal dominant progressive external ophthalmoplegia 9.0 MIR6766 POLG

Graphical network of the top 20 diseases related to Myoclonic Epilepsy Myopathy Sensory Ataxia:



Diseases related to Myoclonic Epilepsy Myopathy Sensory Ataxia

Symptoms & Phenotypes for Myoclonic Epilepsy Myopathy Sensory Ataxia

Drugs & Therapeutics for Myoclonic Epilepsy Myopathy Sensory Ataxia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Myoclonic Epilepsy Myopathy Sensory Ataxia

Genetic Tests for Myoclonic Epilepsy Myopathy Sensory Ataxia

Genetic tests related to Myoclonic Epilepsy Myopathy Sensory Ataxia:

# Genetic test Affiliating Genes
1 Myoclonic Epilepsy Myopathy Sensory Ataxia 29

Anatomical Context for Myoclonic Epilepsy Myopathy Sensory Ataxia

MalaCards organs/tissues related to Myoclonic Epilepsy Myopathy Sensory Ataxia:

41
Brain

Publications for Myoclonic Epilepsy Myopathy Sensory Ataxia

Variations for Myoclonic Epilepsy Myopathy Sensory Ataxia

ClinVar genetic disease variations for Myoclonic Epilepsy Myopathy Sensory Ataxia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
2 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic rs113994095 GRCh38 Chromosome 15, 89327201: 89327201

Expression for Myoclonic Epilepsy Myopathy Sensory Ataxia

Search GEO for disease gene expression data for Myoclonic Epilepsy Myopathy Sensory Ataxia.

Pathways for Myoclonic Epilepsy Myopathy Sensory Ataxia

GO Terms for Myoclonic Epilepsy Myopathy Sensory Ataxia

Sources for Myoclonic Epilepsy Myopathy Sensory Ataxia

3 CDC
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71 TGDB
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74 UMLS via Orphanet
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