CFAP57

Summary

CFAP57 (cilia and flagella associated protein 57, HGNC:26485) is a protein-coding gene on chromosome 1p34.2, encoding Cilia- and flagella-associated protein 57 (Q96MR6). Associates with components of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility, and might act as an inner dynein arm (IDA) hub or linkage.

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 149465 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia (Limited, ClinGen)
• GWAS associations: 2
• Clinical variants (ClinVar): 156 total — 1 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 11
• MANE Select transcript: NM_001378189

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26485
Approved symbol	CFAP57
Name	cilia and flagella associated protein 57
Location	1p34.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32000
Ensembl gene	ENSG00000243710
Ensembl biotype	protein_coding
OMIM	614259
Entrez	149465

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron

ENST00000372492, ENST00000428122, ENST00000525227, ENST00000528956, ENST00000529956, ENST00000533339, ENST00000534615, ENST00000610710, ENST00000891680, ENST00000891681, ENST00000954489

RefSeq mRNA: 4 — MANE Select: NM_001378189 NM_001167965, NM_001195831, NM_001378189, NM_152498

CCDS: CCDS479, CCDS72768, CCDS90934

Canonical transcript exons

ENST00000372492 — 23 exons

Exon	Start	End
ENSE00001457933	43253977	43254358
ENSE00001457939	43243227	43243359
ENSE00001457941	43234495	43234638
ENSE00001552359	43234279	43234413
ENSE00001654231	43222105	43222295
ENSE00001677556	43224046	43224204
ENSE00001713920	43215255	43215416
ENSE00001751952	43219382	43219537
ENSE00001779915	43226983	43227126
ENSE00001783598	43222824	43222997
ENSE00001794113	43232508	43232624
ENSE00002161161	43172735	43172910
ENSE00002175932	43172330	43172453
ENSE00003465705	43206720	43206932
ENSE00003487355	43198481	43198646
ENSE00003514310	43183591	43183877
ENSE00003529557	43199390	43199503
ENSE00003571443	43186707	43186859
ENSE00003573139	43181534	43181850
ENSE00003595853	43185149	43185356
ENSE00003621067	43221372	43221465
ENSE00003630567	43209743	43209916
ENSE00003664418	43197553	43197692

Expression profiles

Bgee: expression breadth ubiquitous, 157 present calls, max score 94.38.

FANTOM5 (CAGE): breadth broad, TPM avg 0.5715 / max 55.0324, expressed in 201 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2495	0.4454	173
2496	0.1058	37
2497	0.0203	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	94.38	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.63	gold quality
right lobe of liver	UBERON:0001114	87.07	gold quality
bronchial epithelial cell	CL:0002328	85.77	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.65	gold quality
bronchus	UBERON:0002185	83.75	gold quality
left testis	UBERON:0004533	81.79	gold quality
right testis	UBERON:0004534	81.75	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.09	gold quality
testis	UBERON:0000473	79.96	gold quality
liver	UBERON:0002107	75.85	gold quality
mucosa of paranasal sinus	UBERON:0005030	75.01	gold quality
caput epididymis	UBERON:0004358	70.04	gold quality
buccal mucosa cell	CL:0002336	69.02	silver quality
fallopian tube	UBERON:0003889	69.02	gold quality
adult mammalian kidney	UBERON:0000082	67.85	gold quality
adenohypophysis	UBERON:0002196	66.92	gold quality
pituitary gland	UBERON:0000007	65.97	gold quality
secondary oocyte	CL:0000655	65.83	gold quality
metanephros cortex	UBERON:0010533	65.83	gold quality
right lung	UBERON:0002167	65.46	gold quality
nasal cavity mucosa	UBERON:0001826	65.20	gold quality
mucosa of stomach	UBERON:0001199	64.51	gold quality
jejunal mucosa	UBERON:0000399	63.26	gold quality
caudate nucleus	UBERON:0001873	63.12	gold quality
nucleus accumbens	UBERON:0001882	62.67	gold quality
cortex of kidney	UBERON:0001225	61.78	gold quality
nasal cavity epithelium	UBERON:0005384	61.61	gold quality
prefrontal cortex	UBERON:0000451	61.55	gold quality
islet of Langerhans	UBERON:0000006	60.73	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.15

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting CFAP57, 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-4533	100.00	69.48	2758
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-6513-3P	99.59	69.77	1102
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-1206	99.30	69.32	1016
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-491-3P	98.88	68.86	1224
HSA-MIR-500A-5P	98.76	69.13	1241
HSA-MIR-6754-5P	98.60	65.54	1627
HSA-MIR-518C-5P	98.53	69.20	1640
HSA-MIR-3944-5P	98.50	67.55	997
HSA-MIR-3613-5P	98.40	68.91	604
HSA-MIR-7156-3P	98.25	67.66	859
HSA-MIR-4778-5P	97.96	68.06	1634
HSA-MIR-5571-3P	97.80	66.07	640
HSA-MIR-5196-3P	97.57	65.98	979

Literature-anchored findings (GeneRIF, showing 3)

• A missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. (PMID:21574244)
• Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. (PMID:32764743)
• Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice. (PMID:36752199)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap57	ENSDARG00000058090
mus_musculus	Cfap57	ENSMUSG00000028730
rattus_norvegicus	Cfap57	ENSRNOG00000007037
drosophila_melanogaster	tous	FBGN0034745

Protein

Protein identifiers

Cilia- and flagella-associated protein 57 — Q96MR6 (reviewed: Q96MR6)

Alternative names: WD repeat-containing protein 65

All UniProt accessions (5): A0A087WVY5, E9PP89, E9PRV3, Q96MR6, H7C4D4

UniProt curated annotations — full annotation on UniProt →

Function. Associates with components of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility, and might act as an inner dynein arm (IDA) hub or linkage.

Subunit / interactions. May form homodimers. Associates with components of the nexin-dynein regulatory complex (N-DRC) and the CFAP184:CFAP263 complex.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme.

Tissue specificity. Expressed in nasal epithelial cells.

Disease relevance. Spermatogenic failure 95 (SPGF95) [MIM:620917] An autosomal recessive, male infertility disorder characterized by markedly reduced progressive sperm motility and multiple morphologic abnormalities of the flagella, including irregularly shaped, short, absent, coiled, and bent flagella. The disease is caused by variants affecting the gene represented in this entry.

Induction. May be an IRF6-target.

Similarity. Belongs to the CFAP57 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96MR6-1	1	yes
Q96MR6-2	2

RefSeq proteins (4): NP_001161437, NP_001182760, NP_001365118, NP_689711 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR011047	Quinoprotein_ADH-like_sf	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR052993	CFA-57	Family
IPR055442	Beta-prop_EML-like_2nd	Domain

Pfam: PF23414

UniProt features (24 total): repeat 10, sequence variant 7, coiled-coil region 3, splice variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96MR6-F1	78.57	0.33

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 102 (showing top): GOBP_SINGLE_FERTILIZATION, GOBP_MALE_GAMETE_GENERATION, CAGCTG_AP4_Q5, EFC_Q6, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, GGAANCGGAANY_UNKNOWN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, chr1p34, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_MICROTUBULE_BUNDLE_FORMATION, ELK1_01, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION

GO Biological Process (4): single fertilization (GO:0007338), axonemal dynein complex assembly (GO:0070286), sperm flagellum assembly (GO:0120316), cilium organization (GO:0044782)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): axoneme (GO:0005930), sperm flagellum (GO:0036126), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
fertilization	1
axoneme assembly	1
protein-containing complex assembly	1
developmental process involved in reproduction	1
spermatid development	1
flagellated sperm motility	1
motile cilium assembly	1
organelle organization	1
plasma membrane bounded cell projection organization	1
binding	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
9+2 motile cilium	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

734 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP57	LRRC46	Q96FV0	519
CFAP57	CCDC40	Q4G0X9	518
CFAP57	CCDC39	Q9UFE4	503
CFAP57	CFAP221	Q4G0U5	479
CFAP57	CCDC146	Q8IYE0	469
CFAP57	DNAAF11	Q86X45	469
CFAP57	DRC2	Q8IXS2	468
CFAP57	DNAAF1	Q8NEP3	468
CFAP57	CCDC74A	Q96AQ1	459
CFAP57	LRRC34	Q8IZ02	459
CFAP57	TSNAXIP1	Q2TAA8	459
CFAP57	RSPH14	Q9UHP6	442
CFAP57	RSPH10B	P0C881	427
CFAP57	ZSWIM2	Q8NEG5	425
CFAP57	WDR49	Q8IV35	425

IntAct

4 interactions, top by confidence:

A	B	Type	Score
CFAP57	CAVIN1	psi-mi:“MI:0915”(physical association)	0.400
HIF1AN	ARID1A	psi-mi:“MI:0914”(association)	0.350
CFAP57	APOD	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): CFAP57 (Affinity Capture-MS), CFAP57 (Proximity Label-MS), CFAP57 (Affinity Capture-MS), APOD (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), CFAP57 (Affinity Capture-MS), CFAP57 (Affinity Capture-MS), CFAP57 (Affinity Capture-MS), EEA1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A2AC93, B2RY71, E7F6H7, E9PYY5, E9Q5M6, O14576, O43815, O55106, O88485, O88487, P27766, P36872, P70483, Q0III3, Q13409, Q13610, Q16959, Q16960, Q29RQ3, Q2HJ56, Q32KS2, Q32LP9, Q4QR00, Q4V8G4, Q5DQR4, Q5NVM2, Q5SQE2, Q5VTH9, Q5XIL8, Q5ZLK1, Q62871, Q63100, Q66HC9, Q6GPB9, Q8BPM2, Q8C0M8, Q8C0P5, Q8IVH8, Q8IWG1, Q92828

Diamond homologs: C5MJE8, O60097, P38915, Q55FJ0, Q96MR6, Q9D180, P93339, P93397, P93398, Q2KJH4, Q40507

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	3
Uncertain significance	101
Likely benign	28
Benign	5

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
4849300	NM_001378189.1(CFAP57):c.2872C>T (p.Arg958Ter)	Pathogenic
1344738	NM_001378189.1(CFAP57):c.1762C>T (p.Arg588Ter)	Likely pathogenic
3910441	NM_001378189.1(CFAP57):c.3119_3120del (p.Arg1040fs)	Likely pathogenic
4845736	NM_001378189.1(CFAP57):c.1231C>T (p.Arg411Ter)	Likely pathogenic

SpliceAI

3799 predictions. Top by Δscore:

Variant	Effect	Δscore
1:43181661:G:GT	donor_gain	1.0000
1:43181864:TGAC:T	donor_gain	1.0000
1:43183582:A:AG	acceptor_gain	1.0000
1:43183583:T:G	acceptor_gain	1.0000
1:43183867:G:GT	donor_gain	1.0000
1:43183873:GAGAG:G	donor_gain	1.0000
1:43183875:GAG:G	donor_gain	1.0000
1:43183876:AGGTA:A	donor_loss	1.0000
1:43183877:GGTAA:G	donor_loss	1.0000
1:43183878:GTAAT:G	donor_loss	1.0000
1:43185355:GG:G	donor_gain	1.0000
1:43185356:GG:G	donor_gain	1.0000
1:43186700:T:TA	acceptor_gain	1.0000
1:43186703:GCA:G	acceptor_loss	1.0000
1:43186704:CA:C	acceptor_loss	1.0000
1:43186855:GCAAG:G	donor_gain	1.0000
1:43186859:GGT:G	donor_loss	1.0000
1:43186860:G:GC	donor_loss	1.0000
1:43186861:T:A	donor_loss	1.0000
1:43199388:A:AG	acceptor_gain	1.0000
1:43199389:G:GG	acceptor_gain	1.0000
1:43199389:GT:G	acceptor_gain	1.0000
1:43199389:GTGTT:G	acceptor_gain	1.0000
1:43199499:GGAAG:G	donor_gain	1.0000
1:43199500:GAAGG:G	donor_gain	1.0000
1:43199505:T:A	donor_loss	1.0000
1:43206930:TTGG:T	donor_loss	1.0000
1:43206931:TGGTG:T	donor_loss	1.0000
1:43206932:GGT:G	donor_loss	1.0000
1:43206933:G:GG	donor_gain	1.0000

AlphaMissense

8292 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:43243261:T:C	L1147P	1.000
1:43181572:A:C	S66R	0.999
1:43181574:T:A	S66R	0.999
1:43181574:T:G	S66R	0.999
1:43181591:T:C	L72P	0.999
1:43181594:C:A	A73D	0.999
1:43181788:T:A	W138R	0.999
1:43181788:T:C	W138R	0.999
1:43186776:A:C	S347R	0.999
1:43186778:C:A	S347R	0.999
1:43186778:C:G	S347R	0.999
1:43199421:C:A	A487D	0.999
1:43206735:T:A	W520R	0.999
1:43206735:T:C	W520R	0.999
1:43206792:T:A	W539R	0.999
1:43206792:T:C	W539R	0.999
1:43219401:T:C	L704P	0.999
1:43219410:G:C	R707P	0.999
1:43222156:T:C	L798P	0.999
1:43222243:T:C	L827P	0.999
1:43222267:T:C	L835P	0.999
1:43234322:T:C	L1057P	0.999
1:43243240:T:C	L1140P	0.999
1:43243264:G:C	R1148P	0.999
1:43243273:T:C	L1151P	0.999
1:43181593:G:C	A73P	0.998
1:43181741:T:C	L122P	0.998
1:43185298:T:A	V304D	0.998
1:43186795:T:C	L353P	0.998
1:43197676:T:A	W416R	0.998

dbSNP variants (sampled 300 via entrez): RS1000039422 (1:43207593 G>A), RS1000043393 (1:43250094 C>G,T), RS1000064956 (1:43208299 A>G), RS1000129119 (1:43237751 A>G), RS1000165339 (1:43170516 C>T), RS1000197800 (1:43188090 C>T), RS1000203909 (1:43214099 C>T), RS1000260307 (1:43250481 C>T), RS1000305574 (1:43213460 T>C), RS1000423378 (1:43250852 C>T), RS1000428582 (1:43237360 T>C), RS1000432006 (1:43220915 G>A,T), RS1000493486 (1:43193568 T>C), RS1000649818 (1:43201994 G>A), RS1000659290 (1:43227344 C>A)

Disease associations

OMIM: gene MIM:614259 | disease phenotypes: MIM:244400, MIM:606713, MIM:620917

GenCC curated gene-disease

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
primary ciliary dyskinesia	Limited	AR

Mondo (3): primary ciliary dyskinesia (MONDO:0016575), van der Woude syndrome 2 (MONDO:0011712), spermatogenic failure 95 (MONDO:0975747)

Orphanet (2): Primary ciliary dyskinesia (Orphanet:244), Van der Woude syndrome (Orphanet:888)

HPO phenotypes

11 total (11 of 11 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000027	Azoospermia
HP:0011462	Young adult onset
HP:0012207	Reduced sperm motility
HP:0032558	Absent sperm flagella
HP:0032559	Short sperm flagella
HP:0032560	Coiled sperm flagella
HP:0033393	Irregularly shaped sperm tail
HP:0034011	Reduced progressive sperm motility
HP:0034811	Bent sperm flagella
HP:6000135	Low semen volume

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001024_1	Telomere length	2.000000e-06
GCST010105_102	Nicotine dependence symptom count	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009262	nicotine dependence symptom count

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
C536529	Van der Woude syndrome 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
Aflatoxin B1	increases methylation	2
afuresertib	increases expression	1
aflatoxin B2	increases methylation	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Atrazine	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Antirheumatic Agents	increases 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
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