Term ID: |
1304 |
Name: |
Torsion dystonia |
Synonym: |
Dystonia musculorum deformans |
Definition: |
Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. |
Comments: |
|
Reference: |
HP:0001304 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
..Axial dystonia (HP:0002530)
|
..Focal dystonia (HP:0004373)
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..Generalized dystonia (HP:0007325)
|
..Limb dystonia (HP:0002451)
|
..Oculogyric crisis (HP:0010553)
|
..Paroxysmal dystonia (HP:0002268)
|
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0001304 | HP:0001304 | Torsion dystonia | 0 | ADAR CL E G H | 103 | 225 | ORPHA:41 | Dyschromatosis symmetrica hereditaria | HP:0040282 - Frequent | | | 116 | | | HP:0001304 | HP:0001304 | Torsion dystonia | 0 | HPCA CL E G H | 3208 | 5144 | OMIM:224500 | Dystonia 2, torsion, autosomal recessive | . | | | 4 | | | HP:0001304 | HP:0001304 | Torsion dystonia | 0 | HPCA CL E G H | 3208 | 5144 | ORPHA:99657 | Primary dystonia, DYT2 type | HP:0040281 - Very frequent | | | 4 | | | HP:0001304 | HP:0001304 | Torsion dystonia | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98811 | Paroxysmal exertion-induced dyskinesia | HP:0040282 - Frequent | | | 94 | | | HP:0001304 | HP:0001304 | Torsion dystonia | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:98811 | Paroxysmal exertion-induced dyskinesia | HP:0040282 - Frequent | | | 255 | | | HP:0001304 | HP:0001304 | Torsion dystonia | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:314250 | Dystonia 3, torsion, X-linked | . | | | 21 | | | HP:0001304 | HP:0001304 | Torsion dystonia | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040282 - Frequent | | | 21 | | | HP:0001304 | HP:0001304 | Torsion dystonia | 0 | THAP1 CL E G H | 55145 | 20856 | OMIM:602629 | Dystonia 6, torsion | . | | | 42 | | | HP:0001304 | HP:0001304 | Torsion dystonia | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | . | | | 47 | | | HP:0001304 | HP:0001304 | Torsion dystonia | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:128101 | Dystonia 4, torsion, autosomal dominant | . | | | 66 | | |
Genes (8) :ADAR HPCA PRRT2 SLC2A1 TAF1 THAP1 TOR1A TUBB4A
Diseases (9) :ORPHA:41 OMIM:224500 ORPHA:99657 ORPHA:98811 OMIM:314250 ORPHA:53351 OMIM:602629 OMIM:128100 OMIM:128101 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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