primary ciliary dyskinesia

Summary
Synonym
  • ciliary motility disorder
  • immotile ciliary syndrome
Definition
A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.
Super Class
ciliopathy
Disease Ontology
DOID:9562
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
54014 BRWD1 bromodomain and WD repeat domain containing 1
56171 DNAH7 dynein axonemal heavy chain 7
85452 CFAP74 cilia and flagella associated protein 74
Displaying all 3 entries
Gene ID Gene Symbol Description Source
18552 Pcsk5 proprotein convertase subtilisin/kexin type 5
20563 Slit2 slit guidance ligand 2
110082 Dnah5 dynein, axonemal, heavy chain 5

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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: March 31, 2025