Perry syndrome

Summary
Synonym
  • parkinsonism with alveolar hypoventilation and mental depression
Definition
A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:0060486
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1639 DCTN1 dynactin subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
13191 Dctn1 dynactin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
29167 Dctn1 dynactin subunit 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024