Dystonia 6, torsion

Preferred Label : Dystonia 6, torsion;

Symbol : DYT6;

CISMeF acronym : DYT6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Torsion dystonia, adult-onset, mixed type;

Description : Dystonia-6 is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by Djarmati et al., 2009). Blanchard et al. (2011) provided a review of dystonia-6 and the THAP1 gene.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the THAP domain-containing protein 1 gene (THAP1, 609520.0001);

Prefixed ID : #602629;

Details

Origin ID

602629;

UMLS CUI

C1414216;

Automatic exact mappings (from CISMeF team)
- Primary dystonia, DYT6 type [ICD-11 More detail]
- symbol withdrawn DYT6 [HGNC gene]
Currated CISMeF NLP mapping
- Dystonia 6 (disorder) [SNOMED CT concept]
- Primary dystonia, DYT6 type [ORDO Disease]
- Torsion Dystonia 6 [NCIt concept]
- dystonia 6, torsion [MeSH concept]
- dystonia 6, torsion [MeSH Supplementary Concept]
- torsion dystonia 6 [DO Concept]
DO Cross reference
- torsion dystonia 6 [DO Concept]
Genes related to phenotype
- Thap domain-containing protein 1 [OMIM gene]
HPO term(s)
- Abnormality of the head [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cranial dystonia [HPO term]
- Dysarthria [HPO term]
- Dysphonia [HPO term]
- Incomplete penetrance [HPO term]
- Laryngeal dystonia [HPO term]
- Limb dystonia [HPO term]
- Lingual dystonia [HPO term]
- Myoclonus [HPO term]
- Oromandibular dystonia [HPO term]
- Torsion dystonia [HPO term]
- Torticollis [HPO term]
- Writer's cramp [HPO term]
ORDO concept(s)
- Primary dystonia, DYT6 type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia 6 (disorder) [SNOMED CT concept]
- Primary dystonia, DYT6 type [ORDO Disease]
- Torsion Dystonia 6 [NCIt concept]
- dystonia 6, torsion [MeSH Supplementary Concept]
- dystonia 6, torsion [MeSH concept]
- torsion dystonia 6 [DO Concept]

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