Oculopharyngodistal Myopathy (LRP12)
| Dred_ID | RD00039 |
| OMIM ID | 164310 |
| Disease name | Oculopharyngodistal Myopathy |
| Alternative names | OPDM |
| Category | Rare neurological diseases, Neuronal diseases, Eye diseases |
| Phenotype | NIH Rare Diseases: Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown. OMIM: Oculopharyngodistal myopathy (OPDM) is characterized by adult-onset of eye and facial muscle weakness, distal muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. There are variable manifestations of the disorder regarding muscle involvement and severity. Both autosomal recessive and autosomal dominant inheritance have been reported. |
| Miscellaneouse | Mean age at onset 22 years (range 7 to 50 years) |
| Prevalence | N/A [source: MalaCards] |
| Inheritance | autosomal dominant; Autosomal recessive |
| Anticipation | Yes |
| Evidence | Strong |
| Gene symbol | LRP12 |
| Alias symbols | ST7; MIG13A |
| Gene name | LDL receptor related protein 12 |
| Gene map locus | 8q22.3; chr8:104,489,231-104,589,258(-) |
| Ensembl Gene ID | ENSG00000147650 |
| 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 | This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. |
| Repeat unit | CGG |
| Normal repeat copies | 13-45 |
| Pathogenic repeat copies | ≥52 |
| Gene | LRP12 |
| Repeat location | 5' UTR |
| Chromosome locus | chr8:104588964-104588999 (-) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | RNA |
| Possible toxicity | OPDM is pathologically characterized by tubulofilamentous inclusions. It is conceivable to postulate that these inclusions observed in OPDM contain RAN proteins, although this awaits confirmation. |
| Pathway annotation | Reactome, KEGG |
| PMID | 31332380 |
| Authors | Ishiura H, Shibata S, Yoshimura J, et al |
| Title | Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease |
| Journal | Nature Genetics |
| Year | 2019 |