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Perry syndrome

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.
Uniprot Description A neuropsychiatric disorder characterized by mental depression not responsive to antidepressant drugs or electroconvulsive therapy, sleep disturbances, exhaustion and marked weight loss. Parkinsonism develops later and respiratory failure occurred terminally.
Disease Ontology Description A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss; that has material basis in heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later.
Mondo Term and Equivalent IDs
MONDO:0008201:  Perry syndrome
GARD:0010453: 
MESH:C566822: 
Orphanet:178509: 
SCTID:699184009: 
UMLS:C1868594: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)