General Information of Disease (ID: DIS1WEB8)

Disease Name Autosomal dominant Parkinson disease 4
Synonyms
autosomal dominant Parkinson's disease 4; Parkinson disease 4, autosomal dominant; PARK4; Parkinson disease 4, autosomal dominant Lewy body; autosomal dominant Parkinson disease type 4; autosomal dominant Parkinson disease 4; autosomal dominant Lewy body Parkinson disease 4
Definition A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.
Disease Hierarchy
DIS9IOUI: Late-onset Parkinson disease
DIS1WEB8: Autosomal dominant Parkinson disease 4
Disease Identifiers
MONDO ID
MONDO_0011562
MESH ID
C565324
UMLS CUI
C1854182
OMIM ID
605543
MedGen ID
381361

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SNCA TT08OSU Definitive Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SNCA OTPWC1MR Definitive Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.