eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| rapid-onset dystonia-parkinsonism | ||||
| Disease ID | 1043 |
|---|---|
| Disease | rapid-onset dystonia-parkinsonism |
| Definition | Abrupt onset of dystonia with parkinsonism over a period of hours to days. |
| Synonym | dystonia 12 dystonia-parkinsonism, rapid-onset dyt12 dyt12 - dystonia 12 rapid onset dystonia parkinsonism rapid onset dystonia parkinsonism (disorder) rapid-onset dystonia parkinsonism |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1868681 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) ATP1A3 | 19q13.2 |
| Disease ID | 1043 |
|---|---|
| Disease | rapid-onset dystonia-parkinsonism |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0002015 | Swallowing difficulty HP:0002067 | Bradykinesia HP:0000473 | Spasmodic torticollis HP:0000712 | Emotional instability HP:0002307 | Sialorrhea HP:0002172 | Postural instability HP:0000338 | Hypomimic face HP:0000716 | Depression HP:0002300 | Muteness HP:0002317 | Unsteady walk HP:0001300 | Parkinsonism HP:0001260 | Dysarthric speech HP:0000739 | Anxiety |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1043 |
|---|---|
| Disease | rapid-onset dystonia-parkinsonism |
| 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:18) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs267606670 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41968837 | C | T,A |
| rs397515382 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41966938 | - | AGT |
| rs397515577 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41976459 | G | A |
| rs573535377 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41981991 | G | T |
| rs587778772 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41966738 | - | GAG |
| rs606231429 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41984930 | CAG | - |
| rs606231435 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41970539 | C | T |
| rs606231442 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41969523 | C | T |
| rs606231448 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41981956 | A | G |
| rs606231449 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41981774 | A | G |
| rs80356532 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41985090 | A | T,G |
| rs80356533 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41985082 | C | T |
| rs80356534 | 22534615 | 478 | ATP1A3 | umls:C1868681 | BeFree | In this family, a T613M mutation in the ATP1A3 gene was confirmed, the most common mutation present in patients with RDP. | 0.487328931 | 2012 | ATP1A3 | 19 | 41978041 | G | A |
| rs80356534 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41978041 | G | A |
| rs80356535 | 24803225 | 478 | ATP1A3 | umls:C1868681 | BeFree | Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings. | 0.487328931 | 2014 | ATP1A3 | 19 | 41970533 | A | C |
| rs80356535 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41970533 | A | C |
| rs80356536 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41970468 | A | G |
| rs80356537 | NA | 478 | ATP1A3 | umls:C1868681 | CLINVAR | NA | 0.487328931 | NA | ATP1A3 | 19 | 41970405 | C | T,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002317 | Unsteady gait | MP:0001406 | abnormal gait | abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground |
Mapped by homologous gene(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002300 | Mutism | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002307 | Drooling | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000338 | Hypomimic face | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0001300 | Parkinsonism | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002317 | Unsteady gait | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0002067 | Bradykinesia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002172 | Postural instability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000712 | Emotional lability | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 1043 |
|---|---|
| Disease | rapid-onset dystonia-parkinsonism |
| Case | (Waiting for update.) |