eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| oculopharyngeal muscular dystrophy | ||||
| Disease ID | 158 |
|---|---|
| Disease | oculopharyngeal muscular dystrophy |
| Definition | An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy. |
| Synonym | dystrophies, oculopharyngeal muscular dystrophy, oculopharyngeal muscular muscular dystrophies, oculopharyngeal muscular dystrophy, oculopharyngeal muscular dystrophy, oculopharyngeal [disease/finding] oculopharyngeal dystrophy oculopharyngeal muscular dystrophies oculopharyngeal muscular dystrophy (disorder) opmd progressive muscular dystrophy, oculopharyngeal type |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0270952 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:33) 2334 | AFF2 | 1.515 | DISEASES 270 | AMPD1 | 1.951 | DISEASES 10425 | ARIH2 | 3.136 | DISEASES 4287 | ATXN3 | 1.128 | DISEASES 27113 | BBC3 | 1.395 | DISEASES 617 | BCS1L | 1.245 | DISEASES 10658 | CELF1 | 1.768 | DISEASES 3301 | DNAJA1 | 2.045 | DISEASES 1915 | EEF1A1 | 1.479 | DISEASES 2280 | FKBP1A | 1.613 | DISEASES 642489 | FKBP1C | 1.709 | DISEASES 2303 | FOXC2 | 1.514 | DISEASES 10020 | GNE | 1.406 | DISEASES 3178 | HNRNPA1 | 2.349 | DISEASES 3190 | HNRNPK | 1.567 | DISEASES 3198 | HOXA1 | 2.338 | DISEASES 3064 | HTT | 1.114 | DISEASES 4291 | MLF1 | 2.283 | DISEASES 4624 | MYH6 | 1.224 | DISEASES 4625 | MYH7 | 3.593 | DISEASES 378884 | NHLRC1 | 1.543 | DISEASES 4901 | NRL | 2.614 | DISEASES 5081 | PAX7 | 1.348 | DISEASES 3276 | PRMT1 | 2.619 | DISEASES 10196 | PRMT3 | 3.821 | DISEASES 84282 | RNF135 | 2.989 | DISEASES 6261 | RYR1 | 2.111 | DISEASES 26278 | SACS | 1.615 | DISEASES 6427 | SRSF2 | 2.251 | DISEASES 6428 | SRSF3 | 2.129 | DISEASES 81493 | SYNC | 2.77 | DISEASES 23336 | SYNM | 2.696 | DISEASES 7415 | VCP | 1.821 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) PABPN1 | 14q11.2 |
| Disease ID | 158 |
|---|---|
| Disease | oculopharyngeal muscular dystrophy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:10) HP:0000508 | Ptosis HP:0003200 | Ragged-red muscle fibers HP:0004303 | Abnormality of muscle fibers HP:0000298 | Mask-like facies HP:0003236 | Elevated serum creatine phosphokinase HP:0003805 | Rimmed vacuoles HP:0003198 | Myopathy HP:0000600 | Abnormality of the pharynx HP:0000602 | Ophthalmoplegia HP:0003302 | Spondylolisthesis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) |
| Disease ID | 158 |
|---|---|
| Disease | oculopharyngeal muscular dystrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894466 | 21742497 | 8106 | PABPN1 | umls:C0270952 | BeFree | Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation. | 0.397442623 | 2011 | PABPN1;BCL2L2-PABPN1 | 14 | 23321504 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003200 | Ragged-red muscle fibers | MP:0009417 | skeletal muscle atrophy | acquired diminution of the size of skeletal muscle tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or |
| HP:0000600 | Abnormality of the pharynx | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003805 | Rimmed vacuoles | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0003200 | Ragged-red muscle fibers | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000602 | Ophthalmoplegia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000298 | Mask-like facies | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000600 | Abnormality of the pharynx | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003302 | Spondylolisthesis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| Disease ID | 158 |
|---|---|
| Disease | oculopharyngeal muscular dystrophy |
| Case | (Waiting for update.) |