Dystonia 4, torsion, autosomal dominant

Preferred Label : Dystonia 4, torsion, autosomal dominant;

Symbol : DYT4;

CISMeF acronym : DYT4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Whispering dysphonia, hereditary; Dystonia musculorum deformans 4;

Description : Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait (summary by Hersheson et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tubulin, beta-4A gene (TUBB4A, 602662.0001);

Prefixed ID : #128101;

Détails

Origin ID

128101;

UMLS CUI

C1851943;

Automatic exact mappings (from CISMeF team)
- TUBB4A wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Dystonia musculorum deformans 4 [MeSH concept]
- Primary dystonia type 4 (disorder) [SNOMED CT concept]
- Primary dystonia, DYT4 type [ICD-11 More detail]
- Primary dystonia, DYT4 type [ORDO Disease]
- Whispering dysphonia, hereditary [MeSH concept]
- dystonia musculorum deformans 4 [MeSH Supplementary Concept]
- torsion dystonia 4 [DO Concept]
- whispering dysphonia, hereditary [MeSH Supplementary Concept]
DO Cross reference
- torsion dystonia 4 [DO Concept]
Genes related to phenotype
- Tubulin, beta-4a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dysphagia [HPO term]
- Dysphonia [HPO term]
- Gait ataxia [HPO term]
- Generalized dystonia [HPO term]
- Limb dystonia [HPO term]
- Narrow face [HPO term]
- Slender build [HPO term]
- Sunken cheeks [HPO term]
- Torsion dystonia [HPO term]
- Torticollis [HPO term]
ORDO concept(s)
- Primary dystonia, DYT4 type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia musculorum deformans 4 [MeSH concept]
- dystonia musculorum deformans 4 [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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