Oculopharyngeal Myopathy with Leukoencephalopathy (LOC642361)
| Dred_ID | RD00046 |
| OMIM ID | 618637 |
| Disease name | Oculopharyngeal Myopathy with Leukoencephalopathy |
| Alternative names | OPML |
| Category | Genetic diseases |
| Phenotype | OPML is a new disease entity that has not been previously described. Among the patients, two had severe gastrointestinal dysmotility and respiratory failure in addition to ptosis and ocular, pharyngeal and limb muscle weakness. |
| Miscellaneouse | adult onset progressive disorder one japanese family has been reported |
| Prevalence | N/A [source: MalaCards] |
| Inheritance | autosomal dominant |
| Anticipation | Yes |
| Evidence | Strong |
| Gene symbol | LOC642361 |
| Alias symbols | LOC642361 |
| Gene name | LOC642361 |
| Gene map locus | 10q22.3;chr10:79,762,821-79,826,484(+) |
| Ensembl Gene ID | ENSG00000272447 |
| Gene expression and Gene Ontology | BioGPS |
| Protein expression | Human Protein Atlas |
| Gene sequence | Sequence |
| Variation | ClinVar, dbSNP | Gene conservation | Gene Conservation from UCSC Genome Browser |
| Gene Description | ncRNA |
| Repeat unit | CGG |
| Normal repeat copies | <7 |
| Pathogenic repeat copies | ≥38 |
| Gene | LOC642361 |
| Repeat location | exon |
| Chromosome locus | chr10:79826386-79826405 (+) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | RNA |
| Possible toxicity | Functional studies of the variant and additional studies of patient cells were not performed. The authors postulated RNA-mediated toxicity as a pathogenic mechanism. |
| Pathway annotation | Reactome, KEGG |
| PMID | 31332380 |
| Authors | Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, Yuta Suzuki, et al |
| Title | Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease |
| Journal | Nature Genet |
| Year | 2019 |