Details of Disease

General Information of Disease (ID: DISHVLD5)

Disease Name Autosomal recessive early-onset Parkinson disease 6
Synonyms
autosomal recessive early-onset Parkinson's disease 6; Parkinson disease 6, late-onset, susceptibility to; Parkinson disease 6, early onset; Parkinson disease 6, early-onset; Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1; Parkinson disease 6, autosomal recessive early-onset; PARK6; early-onset Parkinson disease 6; autosomal recessive early-onset Parkinson disease type 6; PINK1 Parkinson disease; Parkinson disease caused by mutation in PINK1; autosomal recessive early-onset Parkinson disease 6
Definition Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene.
Disease Hierarchy
DISQVHKL: Parkinson disease
DIS05LFS: Young-onset Parkinson disease
DISHVLD5: Autosomal recessive early-onset Parkinson disease 6
Disease Identifiers
MONDO ID
MONDO_0011613
MESH ID
C565276
UMLS CUI
C1853833
OMIM ID
605909
MedGen ID
342982

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANK2 OTWB4R1Y Strong Biomarker [1]
SBNO1 OTNX3RL0 Strong Biomarker [2]
SBNO2 OT1C6J3K Strong Biomarker [2]
SKIL OTNBXH32 Strong Biomarker [2]
PINK1 OT50NR57 Definitive Autosomal recessive [3]
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References

1 SerThr-PhosphoProteome of Brain from Aged PINK1-KO+A53T-SNCA Mice Reveals pT1928-MAP1B and pS3781-ANK2 Deficits, as Hub between Autophagy and Synapse Changes.Int J Mol Sci. 2019 Jul 4;20(13):3284. doi: 10.3390/ijms20133284.
2 S-Nitrosylation of PINK1 Attenuates PINK1/Parkin-Dependent Mitophagy in hiPSC-Based Parkinson's Disease Models.Cell Rep. 2017 Nov 21;21(8):2171-2182. doi: 10.1016/j.celrep.2017.10.068.
3 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.