Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

Preferred Label : Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities;

Symbol : DYTOABG;

CISMeF acronym : DYTOABG; DYT29;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DYT29; Dystonia 29, childhood-onset; Mepan syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial trans-2-enoyl-CoA reductase gene (MECR, 608205.0001);

Laboratory abnormalities : Mild decreases in mitochondrial respiratory activity in skeletal muscle and fibroblasts; Increased lactate in the central nervous system;

Prefixed ID : #617282;

Details

Origin ID

617282;

UMLS CUI

C4310634;

Currated CISMeF NLP mapping
- MEPAN syndrome [ORDO Disease]
- Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Mitochondrial trans-2-enoyl-coa reductase [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chorea [HPO term]
- Craniofacial dystonia [HPO term]
- Dysarthria [HPO term]
- Dyskinesia [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Gait disturbance [HPO term]
- Hyperreflexia [HPO term]
- Involuntary movements [HPO term]
- Motor delay [HPO term]
- Myoclonus [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Progressive [HPO term]
- Spasticity [HPO term]
- Variable expressivity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- MEPAN syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) [SNOMED CT concept]

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