Details of Disease

General Information of Disease (ID: DISJY7JE)

Disease Name Dystonia 16
Synonyms Young-onset dystonia-(parkinsonism); DYT16; dystonia 16; dystonia type 16; dystonic disorder caused by mutation in PRKRA; DYT-PRKRA; PRKRA dystonic disorder; early-onset dystonia parkinsonism
Definition Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.
Disease Hierarchy
DISTS9MR: Multifocal dystonia
DISHGY45: Parkinsonian disorder
DISEIJV9: Inherited dystonia
DISD44TL: Combined dystonia
DISJY7JE: Dystonia 16
Disease Identifiers
MONDO ID
MONDO_0012789
MESH ID
C567430
UMLS CUI
C2677567
OMIM ID
612067
MedGen ID
436979
Orphanet ID
210571
SNOMED CT ID
722435003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RBBP6 OTTVG4HU moderate Genetic Variation [1]
PRKRA OTUTVZZU Strong Autosomal recessive [2]
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References

1 A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.J Cell Biochem. 2019 Nov;120(11):19004-19018. doi: 10.1002/jcb.29223. Epub 2019 Jun 27.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.