Dystonia, dopa-responsive

Preferred Label : Dystonia, dopa-responsive;

Symbol : DRD;

CISMeF acronym : DRD; DYT5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dystonia, progressive, with diurnal variation; Dystonia-parkinsonism with diurnal fluctuation; Segawa syndrome, autosomal dominant; DYT5; Dystonia 5; Dopa-responsive dystonia, autosomal dominant; Dystonia, dopa-responsive, autosomal dominant;

Inheritance : Autosomal dominant; Autosomal recessive (rare);

Molecular basis : Caused by mutation in the GTP cyclohydrolase I gene (GCH1, 600225.0001);

Laboratory abnormalities : Decreased tetrahydrobiopterin (BH4) in CSF; Decreased homovanillic acid (HVA) in CSF; 5-HIAA CSF may be normal or decreased; Decreased GTP cyclohydrolase I activity (about 20% of normal); Transient hyperphenylalaninemia occurs on oral loading test with phenylalanine;

Prefixed ID : #128230;

Details

Origin ID

128230;

UMLS CUI

C1851920;

Automatic exact mappings (from CISMeF team)
- dystonia [MeSH Descriptor]
Currated CISMeF NLP mapping
- Autosomal dominant dopa-responsive dystonia [ORDO Disease]
- Dopa-Responsive Dystonia [NCIt concept]
- Dopa-responsive dystonia [ICD-11 More detail]
- Dopa-responsive dystonia [MedDRA Preferred Term]
- Dopa-responsive dystonia [ORDO Disease]
- Dystonia, Dopa-responsive [MeSH concept]
- dopamine responsive dystonia [Disease (Nov.)]
- dystonia 5 [DO Concept]
- dystonia, dopa-responsive [MeSH Supplementary Concept]
DO Cross reference
- dystonia 5 [DO Concept]
Genes related to phenotype
- Gtp cyclohydrolase I [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bradykinesia [HPO term]
- Childhood onset [HPO term]
- Cogwheel rigidity [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dystonia [HPO term]
- Extrapyramidal signs may develop [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked horizontal nystagmus [HPO term]
- Hyperreflexia [HPO term]
- Impaired distal vibration sensation [HPO term]
- Incoordination [HPO term]
- Jaw hyperreflexia [HPO term]
- Parkinsonism with favorable response to dopaminergic medication [HPO term]
- Pes cavus [HPO term]
- Postural tremor [HPO term]
- Resting tremor [HPO term]
- Scoliosis [HPO term]
- Spasticity [HPO term]
- Talipes equinovarus [HPO term]
- Torticollis [HPO term]
- Transient hyperphenylalaninemia [HPO term]
- Writer's cramp [HPO term]
ORDO concept(s)
- Autosomal dominant dopa-responsive dystonia [ORDO Disease]
See also inter- (CISMeF)
- Diurnal dystonia (disorder) [SNOMED CT concept]
- GTP cyclohydrolase 1 [ORDO Gene]
- GTP cyclohydrolase 1 [HGNC gene]
- Segawa disease [PASCAL descriptor]
- Segawa syndrome [MedDRA LLT]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant dopa responsive dystonia (disorder) [SNOMED CT concept]
- Autosomal dominant dopa-responsive dystonia [ORDO Disease]
- Autosomal dominant dopa-responsive dystonia [ICD-11 More detail]
- Dopa-Responsive Dystonia [NCIt concept]
- Dopa-responsive dystonia [ORDO Disease]
- Dopa-responsive dystonia [ICD-11 More detail]
- Dopa-responsive dystonia [MedDRA Preferred Term]
- Dystonia, Dopa-responsive [MeSH concept]
- dystonia, dopa-responsive [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Autosomal dominant dopa responsive dystonia (disorder) [SNOMED CT concept]
- Autosomal dominant dopa-responsive dystonia [ICD-11 More detail]

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