MCID: MYC030
MIFTS: 17

Myoclonic Epilepsy Myopathy Sensory Ataxia

Categories: Neuronal diseases

Aliases & Classifications for Myoclonic Epilepsy Myopathy Sensory Ataxia

MalaCards integrated aliases for Myoclonic Epilepsy Myopathy Sensory Ataxia:

Name: Myoclonic Epilepsy Myopathy Sensory Ataxia 26 30 6
Spinocerebellar Ataxia with Epilepsy 26 74
Memsa 26
Scae 26

Classifications:



External Ids:

UMLS 74 C1843852

Summaries for Myoclonic Epilepsy Myopathy Sensory Ataxia

Genetics Home Reference : 26 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 and liver.

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 32.3 MIR6766 POLG
2 multiple system atrophy 1 10.2
3 mitochondrial dna depletion syndrome 4b 9.7 MIR6766 POLG
4 mitochondrial dna depletion syndrome 1 9.6 MIR6766 POLG
5 autosomal dominant progressive external ophthalmoplegia 9.5 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 30

Anatomical Context for Myoclonic Epilepsy Myopathy Sensory Ataxia

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

42
Brain, Liver

Publications for Myoclonic Epilepsy Myopathy Sensory Ataxia

Articles related to Myoclonic Epilepsy Myopathy Sensory Ataxia:

(show all 18)
# Title Authors Year
1
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine. ( 26942292 )
2016
2
PRICKLE2 Mutations Might Not Be Involved in Epilepsy. ( 26942291 )
2016
3
Mutations in prickle orthologs cause seizures in flies, mice, and humans. ( 21276947 )
2011
4
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. ( 19251978 )
2009
5
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. ( 17426723 )
2007
6
Do carriers of POLG mutation W748S have disease manifestations? ( 17894835 )
2007
7
POLG mutations and Alpers syndrome. ( 15929042 )
2005
8
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. ( 16130100 )
2005
9
POLG mutations in Alpers syndrome. ( 16177225 )
2005
10
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. ( 15824347 )
2005
11
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. ( 16080118 )
2005
12
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. ( 15122711 )
2004
13
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. ( 15477547 )
2004
14
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. ( 12565911 )
2003
15
Patient homozygous for a recessive POLG mutation presents with features of MERRF. ( 14694057 )
2003
16
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. ( 11431686 )
2001
17
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. ( 11571332 )
2001
18
Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome. ( 632821 )
1978

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/Likely pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
2 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh38 Chromosome 15, 89327201: 89327201
3 POLG NM_002693.2(POLG): c.2243G> C (p.Trp748Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113994097 GRCh37 Chromosome 15, 89866657: 89866657
4 POLG NM_002693.2(POLG): c.2243G> C (p.Trp748Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113994097 GRCh38 Chromosome 15, 89323426: 89323426
5 POLG NM_002693.2(POLG): c.1491G> C (p.Gln497His) single nucleotide variant Uncertain significance rs121918052 GRCh37 Chromosome 15, 89870237: 89870237
6 POLG NM_002693.2(POLG): c.1491G> C (p.Gln497His) single nucleotide variant Uncertain significance rs121918052 GRCh38 Chromosome 15, 89327006: 89327006

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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