eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| myoclonus-dystonia syndrome | ||||
| Disease ID | 1639 |
|---|---|
| Disease | myoclonus-dystonia syndrome |
| Synonym | alcohol-responsive dystonia dystonia 11 dystonia 11, myoclonic dystonia, alcohol-responsive dyt11 hereditary essential myoclonus myoclonic dystonia myoclonic dystonia (disorder) myoclonus, hereditary essential myoclonus-dystonia |
| Orphanet | |
| OMIM | |
| UMLS | C1834570 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:9) |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 1639 |
|---|---|
| Disease | myoclonus-dystonia syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:9) HP:0001252 | Hypotonia HP:0002356 | Writer's cramp HP:0000473 | Spasmodic torticollis HP:0000722 | Obsessive compulsive disorder HP:0000756 | Fear of open spaces HP:0001337 | Tremor HP:0000716 | Depression HP:0001336 | Myoclonic jerks HP:0000739 | Anxiety |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1639 |
|---|---|
| Disease | myoclonus-dystonia syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
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 |
| rs80358234 | 19066193 | 1861 | TOR1A | umls:C1834570 | BeFree | One possible M-D patient showed a 4 bp deletion in the DYT1 gene (c.934_937delAGAG). | 0.122442977 | 2009 | TOR1A | 9 | 129814034 | CTCT | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000722 | Obsessive-compulsive behavior | MP:0009456 | impaired cued conditioning behavior | decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000722 | Obsessive-compulsive behavior | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0000473 | Torticollis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002356 | Writer's cramp | MP:0013355 | adenohypophysis hypertrophy | increase in the bulk size of the anterior lobe of the pituitary gland due to cell enlargement |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000756 | Agoraphobia | MP:0013355 | adenohypophysis hypertrophy | increase in the bulk size of the anterior lobe of the pituitary gland due to cell enlargement |
| HP:0001336 | Myoclonus | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1639 |
|---|---|
| Disease | myoclonus-dystonia syndrome |
| Case | (Waiting for update.) |