Dystonia 9 - CISMeF

Preferred Label : Dystonia 9;

Symbol : DYT9;

CISMeF acronym : DYT9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Choreoathetosis, kinesigenic, with episodic ataxia and spasticity; Cse choreoathetosis, paroxysmal, with episodic ataxia; Choreoathetosis/spasticity, episodic;

Description : Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (SLC2A1, 138140.0018);

Prefixed ID : #601042;

Details

Origin ID

601042;

UMLS CUI

C1832855;

Automatic exact mappings (from CISMeF team)
- Paroxysmal dystonic choreoathetosis with episodic ataxia or spasticity [ICD-11 More detail]
Currated CISMeF NLP mapping
- Choreoathetosis-Spasticity, Episodic [MeSH concept]
- Choreoathetosis-Spasticity, Episodic [MeSH Supplementary Concept]
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity [ORDO Disease]
- Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder) [SNOMED CT concept]
- dystonia 9 [DO Concept]
DO Cross reference
- dystonia 9 [DO Concept]
Genes related to phenotype
- Solute carrier family 2 (facilitated glucose transporter), member 1 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Autosomal dominant inheritance [HPO term]
- Choreoathetosis [HPO term]
- Cognitive impairment [HPO term]
- Diplopia [HPO term]
- Dysarthria [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- Episodic ataxia [HPO term]
- Headache [HPO term]
- Hyperreflexia [HPO term]
- Migraine [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Paresthesia [HPO term]
- Spastic paraplegia [HPO term]
ORDO concept(s)
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity [ORDO Disease]
See also inter- (CISMeF)
- solute carrier family 2 member 1 [ORDO Gene]
- solute carrier family 2 member 1 [HGNC gene]
- symbol withdrawn CSE [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Choreoathetosis-Spasticity, Episodic [MeSH Supplementary Concept]
- Choreoathetosis-Spasticity, Episodic [MeSH concept]
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity [ORDO Disease]
- Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder) [SNOMED CT concept]
- dystonia 9 [DO Concept]

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