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
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
1767 DNAH5 dynein axonemal heavy chain 5
5125 PCSK5 proprotein convertase subtilisin/kexin type 5
9353 SLIT2 slit guidance ligand 2
25809 TTLL1 TTL family tubulin polyglutamylase complex subunit L1
54014 BRWD1 bromodomain and WD repeat domain containing 1
56171 DNAH7 dynein axonemal heavy chain 7
79925 SPEF2 sperm flagellar 2
85452 CFAP74 cilia and flagella associated protein 74
115948 ODAD3 outer dynein arm docking complex subunit 3
Displaying all 5 entries
Gene ID Gene Symbol Description Source
18552 Pcsk5 proprotein convertase subtilisin/kexin type 5
20563 Slit2 slit guidance ligand 2
93871 Brwd1 bromodomain and WD repeat domain containing 1
110082 Dnah5 dynein, axonemal, heavy chain 5
544678 Cfap74 cilia and flagella associated protein 74
Displaying 1 entry
Gene ID Gene Symbol Description Source
116548 Pcsk5 proprotein convertase subtilisin/kexin type 5
Displaying all 2 entries
Gene ID Gene Symbol Description Source
32604 Fur2 Furin 2
36746 sli slit
Displaying 1 entry
Gene ID Gene Symbol Description Source
173051 kpc-1 Furin-like protease kpc-1
Displaying 1 entry
Gene ID Gene Symbol Description Source
855483 KEX2 kexin KEX2

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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