Details of Disease

General Information of Disease (ID: DIS8YKKM)

Disease Name Perry syndrome
Synonyms Parkinsonism with alveolar hypoventilation and mental depression; Perry syndrome; parkinsonism with alveolar hypoventilation and mental depression
Definition Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.
Disease Hierarchy
DISHGY45: Parkinsonian disorder
DIS6SVEE: Syndromic disease
DISD715V: Hereditary neurological disease
DIS8YKKM: Perry syndrome
Disease Identifiers
MONDO ID
MONDO_0008201
MESH ID
C566822
UMLS CUI
C1868594
OMIM ID
168605
MedGen ID
357007
Orphanet ID
178509
SNOMED CT ID
699184009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
LNPEP TTY2KP7 Strong Genetic Variation [1]
SLC36A1 TTUYIZW Strong Genetic Variation [2]
TARDBP TT9RZ03 Strong Biomarker [3]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CAP1 OTYM8A2N Strong Genetic Variation [1]
DCTN1 OT5B51FJ Strong Autosomal dominant [4]
HACD1 OTEC7EP7 Strong Genetic Variation [1]
SERPINB6 OT7G55IK Strong Genetic Variation [1]
SORBS1 OTWH8762 Strong Genetic Variation [1]
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References

1 Disease-associated mutations in the p150(Glued) subunit destabilize the CAP-gly domain.Biochemistry. 2010 Jun 29;49(25):5083-5. doi: 10.1021/bi100235z.
2 In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers.Mov Disord. 2014 Aug;29(9):1197-201. doi: 10.1002/mds.25893. Epub 2014 May 5.
3 Behavioral defects in a DCTN1(G71A) transgenic mouse model of Perry syndrome.Neurosci Lett. 2018 Feb 14;666:98-103. doi: 10.1016/j.neulet.2017.12.038. Epub 2017 Dec 19.
4 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.