CFAP221

Summary

CFAP221 (cilia and flagella associated protein 221, HGNC:33720) is a protein-coding gene on chromosome 2q14.2, encoding Cilia- and flagella-associated protein 221 (Q4G0U5). May play a role in cilium morphogenesis and ciliary function.

Predicted to enable calmodulin binding activity. Predicted to be involved in motile cilium assembly. Predicted to act upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flagellum assembly. Predicted to be located in axoneme and manchette. Predicted to be active in 9+2 motile cilium.

Source: NCBI Gene 200373 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia (Definitive, ClinGen)
• GWAS associations: 2
• Clinical variants (ClinVar): 40 total — 3 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 51
• MANE Select transcript: NM_001271049

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33720
Approved symbol	CFAP221
Name	cilia and flagella associated protein 221
Location	2q14.2
Locus type	gene with protein product
Status	Approved
Aliases	FAP221, PCDP1
Ensembl gene	ENSG00000163075
Ensembl biotype	protein_coding
OMIM	618704
Entrez	200373

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 13 protein_coding, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000295220, ENST00000413057, ENST00000413369, ENST00000434869, ENST00000442513, ENST00000443972, ENST00000463985, ENST00000464578, ENST00000475569, ENST00000488358, ENST00000594033, ENST00000594141, ENST00000594371, ENST00000597189, ENST00000598644, ENST00000599827, ENST00000600951, ENST00000881829, ENST00000881830, ENST00000881831, ENST00000955800, ENST00000955801

RefSeq mRNA: 1 — MANE Select: NM_001271049 NM_001271049

CCDS: CCDS33282

Canonical transcript exons

ENST00000413369 — 24 exons

Exon	Start	End
ENSE00001785570	119544449	119544510
ENSE00003458459	119587119	119587222
ENSE00003460650	119615611	119615709
ENSE00003463803	119611653	119611742
ENSE00003465259	119656362	119656661
ENSE00003474788	119546085	119546270
ENSE00003479469	119559928	119560026
ENSE00003503533	119651974	119652069
ENSE00003508686	119638259	119638417
ENSE00003526341	119646958	119647050
ENSE00003541432	119630570	119630677
ENSE00003549331	119605181	119605289
ENSE00003570740	119604876	119604987
ENSE00003572484	119625583	119625688
ENSE00003590319	119559689	119559775
ENSE00003592420	119601218	119601377
ENSE00003599903	119608502	119608589
ENSE00003602368	119604672	119604792
ENSE00003607243	119639781	119639872
ENSE00003608936	119630767	119630901
ENSE00003639186	119629875	119629955
ENSE00003640617	119549085	119549185
ENSE00003692056	119627653	119627786
ENSE00003789500	119562014	119562114

Expression profiles

Bgee: expression breadth ubiquitous, 181 present calls, max score 98.30.

FANTOM5 (CAGE): breadth broad, TPM avg 1.4449 / max 83.9018, expressed in 334 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
22275	1.2073	309
22276	0.1443	90
22277	0.0770	38
22278	0.0163	4

Top tissues by expression

250 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.30	gold quality
sperm	CL:0000019	98.11	gold quality
bronchial epithelial cell	CL:0002328	93.87	gold quality
metanephros cortex	UBERON:0010533	92.78	gold quality
bronchus	UBERON:0002185	92.65	gold quality
right testis	UBERON:0004534	92.19	gold quality
left testis	UBERON:0004533	92.18	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.47	gold quality
testis	UBERON:0000473	89.93	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.81	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.65	gold quality
oviduct epithelium	UBERON:0004804	88.27	gold quality
epithelial cell of pancreas	CL:0000083	88.02	gold quality
mucosa of paranasal sinus	UBERON:0005030	87.65	gold quality
body of pancreas	UBERON:0001150	87.56	gold quality
tibialis anterior	UBERON:0001385	85.45	gold quality
pancreas	UBERON:0001264	85.37	gold quality
fallopian tube	UBERON:0003889	83.70	gold quality
metanephros	UBERON:0000081	83.36	gold quality
Brodmann (1909) area 9	UBERON:0013540	83.21	gold quality
adult mammalian kidney	UBERON:0000082	83.13	gold quality
islet of Langerhans	UBERON:0000006	82.82	gold quality
pancreatic ductal cell	CL:0002079	82.45	silver quality
right frontal lobe	UBERON:0002810	82.38	gold quality
right lung	UBERON:0002167	81.86	gold quality
prefrontal cortex	UBERON:0000451	80.76	gold quality
adenohypophysis	UBERON:0002196	80.66	gold quality
pituitary gland	UBERON:0000007	80.38	gold quality
anterior cingulate cortex	UBERON:0009835	80.05	gold quality
hypothalamus	UBERON:0001898	79.97	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	17.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting CFAP221, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-34C-3P	98.11	65.60	858
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-5196-3P	97.57	65.98	979
HSA-MIR-4430	97.47	65.61	1813
HSA-MIR-663B	97.40	62.91	664

Literature-anchored findings (GeneRIF, showing 2)

• plays an important role in ciliary and flagellar biogenesis and motility sperm flagella and the cilia of respiratory epithelial cells and brain ependymal cells in both mice and humans (PMID:18039845)
• These results show that genetic variants in CFAP221 cause Pprimary ciliary dyskinesia (PCD) and that CFAP221 should be considered a candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal. (PMID:31636325)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap221	ENSDARG00000087107
mus_musculus	Cfap221	ENSMUSG00000036962
rattus_norvegicus	Cfap221	ENSRNOG00000056781

Protein

Protein identifiers

Cilia- and flagella-associated protein 221 — Q4G0U5 (reviewed: Q4G0U5)

Alternative names: Primary ciliary dyskinesia protein 1

All UniProt accessions (12): Q4G0U5, H7BZW0, H7C1D6, H7C3Q0, M0QWZ6, M0QZ41, M0QZN4, M0QZV1, M0R095, M0R1M9, M0R1R6, X6RIU2

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in cilium morphogenesis and ciliary function.

Subunit / interactions. Interacts with calmodulin; calcium-dependent.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme.

Tissue specificity. Expressed in ciliated respiratory epithelial cells and brain ependymal cells (at protein level).

Disease relevance. Ciliary dyskinesia, primary, 55 (CILD55) [MIM:279000] An autosomal recessive form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Male infertility may result from reduced motility of spermatozoa. Some CILD55 affected individuals also exhibit obstructive azoospermia. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the PCDP1 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q4G0U5-1	1	yes
Q4G0U5-2	2
Q4G0U5-3	3
Q4G0U5-4	4

RefSeq proteins (1): NP_001257978* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013783	Ig-like_fold	Homologous_superfamily
IPR029676	CFAP221	Family

UniProt features (12 total): splice variant 6, region of interest 2, sequence variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4G0U5-F1	63.53	0.11

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 150 (showing top): GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, GOBP_RESPIRATORY_SYSTEM_PROCESS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_ORGANELLE_ASSEMBLY, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, chr2q14, GOCC_CENTRIOLE, GOCC_CYTOPLASMIC_REGION, GOCC_CILIARY_TIP, GOCC_MOTILE_CILIUM, GOCC_CILIUM, MATZUK_SPERMATOZOA

GO Biological Process (8): motile cilium assembly (GO:0044458), establishment of localization in cell (GO:0051649), cilium assembly (GO:0060271), cerebrospinal fluid circulation (GO:0090660), mucociliary clearance (GO:0120197), sperm flagellum assembly (GO:0120316), cilium movement (GO:0003341), cell projection organization (GO:0030030)

GO Molecular Function (1): calmodulin binding (GO:0005516)

GO Cellular Component (10): manchette (GO:0002177), extracellular region (GO:0005576), cytoplasm (GO:0005737), cilium (GO:0005929), axoneme (GO:0005930), sperm flagellum (GO:0036126), glial cell projection (GO:0097386), 9+2 motile cilium (GO:0097729), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
epithelial cilium movement involved in extracellular fluid movement	2
plasma membrane bounded cell projection	2
cilium assembly	1
establishment of localization	1
cellular localization	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
nervous system process	1
respiratory system process	1
developmental process involved in reproduction	1
spermatid development	1
flagellated sperm motility	1
motile cilium assembly	1
microtubule-based movement	1
cellular component organization	1
protein binding	1
microtubule cytoskeleton	1
intracellular anatomical structure	1
intraciliary transport particle	1
membrane-bounded organelle	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
9+2 motile cilium	1
radial spoke	1
motile cilium	1
inner dynein arm	1
outer dynein arm	1
axonemal central pair	1
axonemal doublet microtubule	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

997 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP221	WDR93	Q6P2C0	839
CFAP221	CALML6	Q8TD86	776
CFAP221	CALML3	P27482	776
CFAP221	CALML5	Q9NZT1	776
CFAP221	CALML4	Q96GE6	776
CFAP221	CALM1	P02593	775
CFAP221	SPAG6	O75602	736
CFAP221	C1D	Q13901	696
CFAP221	HYDIN	Q4G0P3	584
CFAP221	SPAG17	Q6Q759	583
CFAP221	SPEF2	Q9C093	582
CFAP221	CFAP54	Q96N23	571
CFAP221	LRRC56	Q8IYG6	507
CFAP221	GAS2L2	Q8NHY3	507
CFAP221	RSPH1	Q8WYR4	505

IntAct

0 interactions, top by confidence:

BioGRID (3): CFAP221 (Affinity Capture-MS), PCBP2 (Cross-Linking-MS (XL-MS)), EEA1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GVH7, A6PVS8, A8DZJ1, A9Q751, D3ZSP7, D4AEC2, Q08AD1, Q08CX2, Q14DL3, Q2T9P0, Q2TA00, Q32KQ1, Q3UZ57, Q3V0J4, Q4G0U5, Q4R7B1, Q4R7Z7, Q5S003, Q5SUV2, Q5T1B0, Q5ZLS8, Q63164, Q66HC0, Q69CM7, Q6AXP3, Q6AYL8, Q6IRN6, Q6NXP0, Q6Q759, Q80X60, Q86WZ0, Q8C1B1, Q8C4J0, Q8C636, Q8CDN1, Q8CDU5, Q8IWF9, Q8N7B9, Q8N7U6, Q8ND61

Diamond homologs: A8J6X7, A9Q751, Q4G0U5, Q8BLA1, Q9Y238

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

40 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	2
Uncertain significance	4
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
3911905	CFAP221, 1-BP DUP, NT1641 (rs779457532)	Pathogenic
3911906	NM_001271049.2(CFAP221):c.1466_1469del (p.Lys489fs)	Pathogenic
3911907	CFAP221, 18,187-BP DEL, EX15-21	Pathogenic
4082365	NM_001271049.2(CFAP221):c.1641dup (p.Asn548fs)	Likely pathogenic
4818927	GRCh38/hg38 2q14.2(chr2:119624023-119642209)x1	Likely pathogenic

SpliceAI

4762 predictions. Top by Δscore:

Variant	Effect	Δscore
2:119544639:A:T	donor_gain	1.0000
2:119546084:GGAC:G	acceptor_gain	1.0000
2:119546243:G:GT	donor_gain	1.0000
2:119546266:ATCAA:A	donor_gain	1.0000
2:119546267:TCAA:T	donor_gain	1.0000
2:119546268:CAA:C	donor_gain	1.0000
2:119546269:AA:A	donor_gain	1.0000
2:119546270:AGT:A	donor_loss	1.0000
2:119546271:G:GG	donor_gain	1.0000
2:119546272:TAAGT:T	donor_loss	1.0000
2:119559684:CCCA:C	acceptor_loss	1.0000
2:119559685:CCAGC:C	acceptor_loss	1.0000
2:119559687:A:AG	acceptor_gain	1.0000
2:119559687:AGC:A	acceptor_loss	1.0000
2:119559688:G:GA	acceptor_gain	1.0000
2:119559688:G:GT	acceptor_loss	1.0000
2:119559688:GC:G	acceptor_gain	1.0000
2:119559688:GCAT:G	acceptor_gain	1.0000
2:119559688:GCATC:G	acceptor_gain	1.0000
2:119560025:AGGTA:A	donor_loss	1.0000
2:119560026:GGT:G	donor_loss	1.0000
2:119560028:T:A	donor_loss	1.0000
2:119604668:ATAG:A	acceptor_loss	1.0000
2:119604670:A:AC	acceptor_loss	1.0000
2:119604670:A:AG	acceptor_gain	1.0000
2:119604671:G:GG	acceptor_gain	1.0000
2:119604671:GATTA:G	acceptor_gain	1.0000
2:119604790:AAG:A	donor_loss	1.0000
2:119604791:AGGTA:A	donor_loss	1.0000
2:119604792:GG:G	donor_loss	1.0000

AlphaMissense

5574 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:119562045:C:A	A153D	0.991
2:119562044:G:C	A153P	0.988
2:119562033:T:A	V149D	0.987
2:119604940:T:A	V326D	0.987
2:119559974:T:C	F125S	0.983
2:119605228:G:C	A358P	0.983
2:119587168:T:C	F193L	0.982
2:119587170:T:A	F193L	0.982
2:119587170:T:G	F193L	0.982
2:119601259:T:C	F225L	0.982
2:119601261:T:A	F225L	0.982
2:119601261:T:G	F225L	0.982
2:119549144:T:C	F67L	0.981
2:119549146:T:A	F67L	0.981
2:119549146:T:G	F67L	0.981
2:119549184:T:C	L80P	0.980
2:119559992:G:C	R131P	0.980
2:119559700:T:A	N84K	0.979
2:119559700:T:G	N84K	0.979
2:119560016:T:A	V139D	0.979
2:119559752:T:C	F102L	0.978
2:119559754:T:A	F102L	0.978
2:119559754:T:G	F102L	0.978
2:119604933:G:C	A324P	0.978
2:119604943:T:C	L327S	0.978
2:119560004:A:T	D135V	0.977
2:119559968:T:A	V123D	0.976
2:119559693:T:C	L82P	0.975
2:119601260:T:C	F225S	0.974
2:119559973:T:C	F125L	0.973

dbSNP variants (sampled 300 via entrez): RS1000016354 (2:119555468 G>T), RS1000053628 (2:119658331 T>C), RS1000070571 (2:119642222 T>C), RS1000071478 (2:119598541 G>A,T), RS1000074899 (2:119608205 G>C), RS1000087133 (2:119648903 G>C), RS1000128112 (2:119547425 G>C,T), RS1000141535 (2:119619365 C>G), RS1000191671 (2:119627055 T>C), RS1000215574 (2:119620787 T>C), RS1000236963 (2:119606150 C>T), RS1000243808 (2:119626810 G>A,C), RS1000245523 (2:119625283 A>G), RS1000294722 (2:119626420 A>G), RS1000307080 (2:119580465 A>G)

Disease associations

OMIM: gene MIM:618704 | disease phenotypes: MIM:279000, MIM:244400

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
primary ciliary dyskinesia	Definitive	AR

Mondo (2): Young syndrome (MONDO:0010220), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (2): Primary ciliary dyskinesia (Orphanet:244), Young syndrome (Orphanet:3471)

HPO phenotypes

51 total (30 of 51 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000027	Azoospermia
HP:0000119	Abnormality of the genitourinary system
HP:0000238	Hydrocephalus
HP:0000365	Hearing impairment
HP:0000389	Chronic otitis media
HP:0000403	Recurrent otitis media
HP:0000405	Conductive hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000750	Delayed speech and language development
HP:0000924	Abnormality of the skeletal system
HP:0001217	Clubbing
HP:0001627	Abnormal heart morphology
HP:0001669	Transposition of the great arteries
HP:0001696	Situs inversus totalis
HP:0001719	Double outlet right ventricle
HP:0001742	Nasal congestion
HP:0001746	Asplenia
HP:0001748	Polysplenia
HP:0002011	Morphological central nervous system abnormality
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002837	Recurrent bronchitis
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0005301	Persistent left superior vena cava
HP:0005425	Recurrent sinopulmonary infections

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002625_3	Chronic bronchitis and chronic obstructive pulmonary disease	3.000000e-07
GCST008103_94	Bipolar disorder	2.000000e-06

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480
C536718	Young Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
Tobacco Smoke Pollution	decreases expression	2
aristolochic acid I	decreases expression	1
2,3-pentanedione	decreases expression	1
benzo(e)pyrene	decreases methylation	1
ferrous chloride	increases expression	1
aflatoxin B2	decreases methylation	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Diacetyl	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Methapyrilene	decreases methylation	1
Smoke	increases abundance, increases expression	1
Cyclosporine	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

71 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02871778	PHASE2	COMPLETED	Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
NCT07318974	PHASE2	ACTIVE_NOT_RECRUITING	Melatonin Therapy for Improving ICSI Outcomes in Women With Diminished Ovarian Reserve
NCT05737485	PHASE1	COMPLETED	Study Evaluating the Safety and Tolerability of RCT1100 in Healthy and PCD Subjects
NCT06600425	PHASE1	COMPLETED	A Study to Assess the Safety, Tolerability, Ciliary Rescue, and Pharmacodynamics of RCT1100 in Adults With PCD
NCT06633757	PHASE1	COMPLETED	Study of Inhaled RCT1100 in Adults With PCD Caused by Pathogenic Mutations in the DNAI1 Gene to Measure Mucociliary Clearance
NCT04901715	EARLY_PHASE1	COMPLETED	Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
NCT00005650	Not specified	COMPLETED	Genetic Study of Patients With Primary Ciliary Dyskinesia
NCT00323167	Not specified	COMPLETED	Rare Genetic Disorders of the Breathing Airways
NCT00368446	Not specified	COMPLETED	Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease
NCT00450918	Not specified	COMPLETED	Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents
NCT00608556	Not specified	COMPLETED	Dyskinesia, Heterotaxy and Congenital Heart Disease
NCT00686309	Not specified	UNKNOWN	Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)
NCT00722878	Not specified	COMPLETED	Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease
NCT00739817	Not specified	UNKNOWN	Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide
NCT00783887	Not specified	COMPLETED	Diagnosis of Primary Ciliary Dyskinesia
NCT00807482	Not specified	RECRUITING	Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
NCT01070914	Not specified	UNKNOWN	Early Detection and Characterization of Primary Ciliary Dyskinesia
NCT01155115	Not specified	COMPLETED	Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia
NCT01246258	Not specified	COMPLETED	Otolith Function in Patients With Primary Ciliary Dyskinesia
NCT01929356	Not specified	RECRUITING	Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia
NCT02389049	Not specified	COMPLETED	Genetics of Primary Ciliary Dyskinesia
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