Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD), also known as Kartegener Syndrome or Immotile Cilia Syndrome, is an inherited disorder characterized by chronic ear, sinus and/or lung infections and infertility. Individuals with PCD may also have situs inversus or situs ambiguous, headaches or hydrocephalus. All the causative genes identified thus far have roles in the development and function of cilia and flagella.

General information links for Primary Ciliary Dyskinesia:

Causative genes for Primary Ciliary Dyskinesia Diseases
Syndrome subtypeHuman geneHuman proteinFly GeneComments
Ciliary dyskinesia, primary, 1DNAI1dynein, axonemal, intermediate chain 1CG9313
Ciliary dyskinesia, primary, 2DNAAF3dynein, axonemal, assembly factor 3CG17669
Ciliary dyskinesia, primary, 3DNAH5dynein, axonemal, heavy chain 5CG9492
Ciliary dyskinesia, primary, 4no gene identified
Ciliary dyskinesia, primary, 5HYDINHYDIN, axonemal central pair apparatus protein??
Ciliary dyskinesia, primary, 6NME8NME/NM23 family member 8??CG18130, CG14221 or nmdyn-D6?
Ciliary dyskinesia, primary, 7DNAH11dynein, axonemal, heavy chain 11CG3339
Ciliary dyskinesia, primary, 7DNAH11dynein, axonemal, heavy chain 11Dhc93AB
Ciliary dyskinesia, primary, 8no gene identified
Ciliary dyskinesia, primary, 9DNAI2dynein, axonemal, intermediate chain 2Dnai2
Ciliary dyskinesia, primary, 10DNAAF2dynein, axonemal, assembly factor 2Nop17l
Ciliary dyskinesia, primary, 11RSPH4Aradial spoke head 4 homolog ARsph4a
Ciliary dyskinesia, primary, 12RSPH9radial spoke head 9 homologRsph9
Ciliary dyskinesia, primary, 13DNAAF1dynein, axonemal, assembly factor 1dtr
Ciliary dyskinesia, primary, 14CCDC39coiled-coil domain containing 39CG17387
Ciliary dyskinesia, primary, 15CCDC40coiled-coil domain containing 40l(2)41Ab
Ciliary dyskinesia, primary, 16DNAL1dynein, axonemal, light chain 1CG8800
Ciliary dyskinesia, primary, 17CCDC103coiled-coil domain containing 103CG13202
Ciliary dyskinesia, primary, 18DNAAF5Dynein, axonemal, assembly factor 5HEATR2
Ciliary dyskinesia, primary, 19DNAAF11dynein axonemal assembly factor 11tilB
Ciliary dyskinesia, primary, 20ODAD1outer dynein arm docking complex subunit 1CG14905
Ciliary dyskinesia, primary, 21DRC1dynein regulatory complex, subunit 1CG10958
Ciliary dyskinesia, primary, 22ZMYND10zinc finger, MYND-type containing 10Zmynd10
Ciliary dyskinesia, primary, 23ODAD2outer dynein arm docking complex subunit 2gudu
Ciliary dyskinesia, primary, 24RSPH1radial spoke head 1 homologRsph1
Ciliary dyskinesia, primary, 25DNAAF4Dynein, axonemal, assembly factor 4CG14921?
Ciliary dyskinesia, primary, 26CFAP298Cilia- and flagella-associated protein 298CG18675
Ciliary dyskinesia, primary, 27CCDC65coiled-coil domain containing 65CG30259
Ciliary dyskinesia, primary, 28SPAG1sperm associated antigen 1Spag1

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Relevant gene in stockFly disease model or related mutation or transgeneStk #Comments