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
External Links
Disease Ontology
DOID:9562
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
1056 CEL carboxyl ester lipase
1109 AKR1C4 aldo-keto reductase family 1 member C4
3383 ICAM1 intercellular adhesion molecule 1
4153 MBL2 mannose binding lectin 2
4684 NCAM1 neural cell adhesion molecule 1
4907 NT5E 5'-nucleotidase ecto
6382 SDC1 syndecan 1
10998 SLC27A5 solute carrier family 27 member 5
50863 NTM neurotrimin
56623 INPP5E inositol polyphosphate-5-phosphatase E

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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: August 19, 2024