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Primary ciliary dyskinesia

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Primary ciliary dyskinesia

ORPHA:244Disease

Also called PCD

What it is

A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).

Key facts

Prevalence
1-5 / 10 000 (Pakistan)
Age of onset
Neonatal
Inheritance
Autosomal dominant, Autosomal recessive, X-linked recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

BRWD1Disease-causing germline mutation(s)
CCDC39Disease-causing germline mutation(s)
CCDC40Disease-causing germline mutation(s)
CCNODisease-causing germline mutation(s) (loss of function)
CFAP221Disease-causing germline mutation(s)
CFAP298Disease-causing germline mutation(s)
CFAP300Disease-causing germline mutation(s) (loss of function)
CFAP74Disease-causing germline mutation(s)
CLXNDisease-causing germline mutation(s)
DAW1Disease-causing germline mutation(s)
DNAAF1Disease-causing germline mutation(s)
DNAAF11Disease-causing germline mutation(s) (loss of function)
DNAAF19Disease-causing germline mutation(s)
DNAAF2Disease-causing germline mutation(s)
DNAAF3Disease-causing germline mutation(s)
DNAAF4Disease-causing germline mutation(s) (loss of function)
DNAAF5Disease-causing germline mutation(s)
DNAAF6Disease-causing germline mutation(s) (loss of function)
DNAH1Disease-causing germline mutation(s)
DNAH11Disease-causing germline mutation(s)
DNAH5Disease-causing germline mutation(s)
DNAH7Disease-causing germline mutation(s)
DNAH9Disease-causing germline mutation(s) (loss of function)
DNAI1Disease-causing germline mutation(s)
DNAI2Disease-causing germline mutation(s)
DNAJB13Disease-causing germline mutation(s) (loss of function)
DNAL1Disease-causing germline mutation(s)
DRC1Disease-causing germline mutation(s) (loss of function)
DRC2Disease-causing germline mutation(s)
DRC4Disease-causing germline mutation(s) (loss of function)
FOXJ1Disease-causing germline mutation(s) (loss of function)
GAS2L2Disease-causing germline mutation(s)
HYDINDisease-causing germline mutation(s) (loss of function)
LRRC56Disease-causing germline mutation(s)
MCIDASDisease-causing germline mutation(s) (loss of function)
NEK10Disease-causing germline mutation(s)
NME5Disease-causing germline mutation(s)
NME8Disease-causing germline mutation(s)
ODAD1Disease-causing germline mutation(s) (loss of function)
ODAD2Disease-causing germline mutation(s) (loss of function)
ODAD3Disease-causing germline mutation(s) (loss of function)
ODAD4Disease-causing germline mutation(s) (loss of function)
OFD1Disease-causing germline mutation(s)
RPGRDisease-causing germline mutation(s)
RSPH1Disease-causing germline mutation(s) (loss of function)
RSPH3Disease-causing germline mutation(s)
RSPH4ADisease-causing germline mutation(s)
RSPH9Disease-causing germline mutation(s)
SPAG1Disease-causing germline mutation(s)
SPEF2Disease-causing germline mutation(s)
STK36Disease-causing germline mutation(s) (loss of function)
TTC12Disease-causing germline mutation(s) (loss of function)
ZMYND10Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

Q34.8filed under a broader ICD-10 category — shared with 1 other rare disease

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

GARD 4484MEDDRA 10069713MONDO 0016575OMIM 215518OMIM 215520OMIM 242670OMIM 242680OMIM 244400OMIM 300991OMIM 606763OMIM 608644OMIM 608646OMIM 608647OMIM 610852OMIM 611884OMIM 612274OMIM 612444OMIM 612518OMIM 612649OMIM 612650OMIM 613193OMIM 613807OMIM 613808OMIM 614017OMIM 614679OMIM 614874OMIM 614935OMIM 615067OMIM 615294OMIM 615444OMIM 615451OMIM 615481OMIM 615482OMIM 615500OMIM 615504OMIM 615505OMIM 615872OMIM 616037OMIM 616481OMIM 616726OMIM 617091OMIM 617092OMIM 617577OMIM 618063OMIM 618254OMIM 618300OMIM 618449OMIM 618695OMIM 618699OMIM 618781OMIM 618801OMIM 619436OMIM 620032OMIM 620197OMIM 620356OMIM 620438OMIM 620570OMIM 620642UMLS C4551720

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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