Details of Disease | DrugMAP

General Information of Disease (ID: DISC52SS)

Disease Name	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Synonyms	epilepsy, progressive myoclonic, 5, formerly; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; spinocerebellar ataxia with epilepsy; sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive; epilepsy, progressive myoclonic, 5; epilepsy, progressive myoclonic, with sensory ataxic neuropathy; epilepsy, progressive myoclonic, type 5; PRICKLE2 progressive myoclonic epilepsy; PME type 5; mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; progressive myoclonus epilepsy type 5; progressive myoclonic epilepsy caused by mutation in PRICKLE2; SANDO; EPM5
Definition	A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.
Disease Hierarchy	DISOEVKS: Metabolic epilepsy DISSYRHC: Hereditary peripheral neuropathy DIS9SA7V: Mitochondrial myopathy DIS2BIP8: Congenital nervous system disorder DISXLIHB: Ataxia neuropathy spectrum DISC52SS: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Disease Identifiers	MONDO ID MONDO_0011835 MESH ID C537583 UMLS CUI C1843851 OMIM ID 607459 MedGen ID 375302 Orphanet ID 70595 SNOMED CT ID 717266001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRICKLE2	OTWBA48T	Strong	CausalMutation	[1]
POLG	OTDUCT04	Definitive	Autosomal recessive	[2]
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References

1	Mutations in prickle orthologs cause seizures in flies, mice, and humans.Am J Hum Genet. 2011 Feb 11;88(2):138-49. doi: 10.1016/j.ajhg.2010.12.012. Epub 2011 Feb 3.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.