Details of Disease | DrugMAP

General Information of Disease (ID: DISBF3BV)

Disease Name	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Synonyms	dystonia 29, childhood-onset; dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG; dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG
Disease Hierarchy	DISEIJV9: Inherited dystonia DISPN7D2: Inherited neurodegenerative disorder DIS5L41Q: Inherited lipoic acid biosynthesis defect DISBF3BV: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Disease Identifiers	MONDO ID MONDO_0015003 UMLS CUI C4310634 OMIM ID 617282 MedGen ID 934601 Orphanet ID 508093 SNOMED CT ID 1236805005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MECR	OTJQ5XKQ	Strong	Autosomal recessive	[1]
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References

1	MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3.