MCID: MYC030
MIFTS: 11

Myoclonic Epilepsy Myopathy Sensory Ataxia

Categories: Genetic diseases

Aliases & Classifications for Myoclonic Epilepsy Myopathy Sensory Ataxia

MalaCards integrated aliases for Myoclonic Epilepsy Myopathy Sensory Ataxia:

Name: Myoclonic Epilepsy Myopathy Sensory Ataxia 24 25 29
Spinocerebellar Ataxia with Epilepsy 25 69
Memsa 25
Scae 25

Classifications:



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 mitochondrial recessive ataxia syndrome and multiple system atrophy. 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:

id Related Disease Score Top Affiliating Genes
1 mitochondrial recessive ataxia syndrome 11.6
2 multiple system atrophy 9.9

Symptoms & Phenotypes for Myoclonic Epilepsy Myopathy Sensory Ataxia

Drugs & Therapeutics for Myoclonic Epilepsy Myopathy Sensory Ataxia

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Myoclonic Epilepsy Myopathy Sensory Ataxia 29 24 POLG

Anatomical Context for Myoclonic Epilepsy Myopathy Sensory Ataxia

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

39
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
id Gene Variation Type Significance SNP ID Assembly Location
1 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
2 POLG NM_002693.2(POLG): c.2243G> C (p.Trp748Ser) single nucleotide variant Pathogenic rs113994097 GRCh37 Chromosome 15, 89866657: 89866657

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

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70 UMLS via Orphanet
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