TTC14

Summary

TTC14 (tetratricopeptide repeat domain 14, HGNC:24697) is a protein-coding gene on chromosome 3q26.33, encoding Tetratricopeptide repeat protein 14 (Q96N46).

Predicted to enable nucleic acid binding activity.

Source: NCBI Gene 151613 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 152 total — 1 pathogenic, 1 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_133462

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24697
Approved symbol	TTC14
Name	tetratricopeptide repeat domain 14
Location	3q26.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ00166, KIAA1980
Ensembl gene	ENSG00000163728
Ensembl biotype	protein_coding
Entrez	151613

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000296015, ENST00000382584, ENST00000412756, ENST00000462895, ENST00000465065, ENST00000465625, ENST00000470669, ENST00000487397, ENST00000491380, ENST00000492617, ENST00000495660, ENST00000862624, ENST00000862625, ENST00000862626, ENST00000947441, ENST00000947442, ENST00000947443, ENST00000947444

RefSeq mRNA: 3 — MANE Select: NM_133462 NM_001042601, NM_001288582, NM_133462

CCDS: CCDS3237, CCDS46963, CCDS75055

Canonical transcript exons

ENST00000296015 — 12 exons

Exon	Start	End
ENSE00001077723	180605766	180605837
ENSE00001077728	180604225	180604309
ENSE00001077730	180606253	180606372
ENSE00001077731	180607648	180607765
ENSE00001139779	180609630	180611130
ENSE00001139789	180602163	180602422
ENSE00003558551	180602891	180603015
ENSE00003584353	180608701	180608810
ENSE00003586076	180606481	180606603
ENSE00003605563	180603124	180603323
ENSE00003787077	180604852	180605007
ENSE00003787882	180604478	180604607

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 97.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.1231 / max 602.8518, expressed in 1821 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
39957	50.6123	1821
39958	0.5108	284

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	97.29	gold quality
right uterine tube	UBERON:0001302	96.58	gold quality
adenohypophysis	UBERON:0002196	95.94	gold quality
pituitary gland	UBERON:0000007	95.85	gold quality
sural nerve	UBERON:0015488	95.48	gold quality
left ovary	UBERON:0002119	95.35	gold quality
right ovary	UBERON:0002118	94.97	gold quality
calcaneal tendon	UBERON:0003701	94.81	gold quality
corpus callosum	UBERON:0002336	94.60	gold quality
left lobe of thyroid gland	UBERON:0001120	94.45	gold quality
thyroid gland	UBERON:0002046	94.40	gold quality
pancreatic ductal cell	CL:0002079	94.29	gold quality
right lobe of thyroid gland	UBERON:0001119	94.15	gold quality
ileal mucosa	UBERON:0000331	94.03	gold quality
tibial nerve	UBERON:0001323	93.99	gold quality
germinal epithelium of ovary	UBERON:0001304	93.95	gold quality
tendon of biceps brachii	UBERON:0008188	93.82	gold quality
body of pancreas	UBERON:0001150	93.72	gold quality
body of uterus	UBERON:0009853	93.67	gold quality
ovary	UBERON:0000992	93.62	gold quality
superficial temporal artery	UBERON:0001614	93.52	gold quality
endocervix	UBERON:0000458	93.49	gold quality
tibia	UBERON:0000979	93.36	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.30	gold quality
tendon	UBERON:0000043	93.26	gold quality
corpus epididymis	UBERON:0004359	93.18	gold quality
lymph node	UBERON:0000029	93.08	gold quality
thymus	UBERON:0002370	93.04	gold quality
Brodmann (1909) area 46	UBERON:0006483	92.69	gold quality
primary visual cortex	UBERON:0002436	92.62	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.57
E-GEOD-83139	no	2.91

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting TTC14, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ttc14	ENSDARG00000013845
mus_musculus	Ttc14	ENSMUSG00000027677
rattus_norvegicus	Ttc14	ENSRNOG00000011261
drosophila_melanogaster	CG6621	FBGN0037855

Protein

Protein identifiers

Tetratricopeptide repeat protein 14 — Q96N46 (reviewed: Q96N46)

All UniProt accessions (6): C9J974, C9JBA2, C9JCY7, Q96N46, F8WDA3, F8WDH5

UniProt curated annotations — full annotation on UniProt →

Miscellaneous. May be due to a competing donor splice site.

Similarity. Belongs to the TTC14 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96N46-1	1	yes
Q96N46-2	2
Q96N46-3	3

RefSeq proteins (3): NP_001036066, NP_001275511, NP_597719* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003029	S1_domain	Domain
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR012340	NA-bd_OB-fold	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR039190	TTC14	Family

Pfam: PF13414

UniProt features (23 total): compositionally biased region 7, region of interest 5, repeat 4, splice variant 3, chain 1, domain 1, modified residue 1, cross-link 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96N46-F1	62.21	0.27

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 671, 723

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 161 (showing top): YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MODULE_308, chr3q26, TURASHVILI_BREAST_CARCINOMA_DUCTAL_VS_LOBULAR_UP, CUI_TCF21_TARGETS_2_DN, SCGGAAGY_ELK1_02, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_WITH_LMP1_UP, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_2, WHITFIELD_CELL_CYCLE_G1_S, GCM_MLL, SRC_UP.V1_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_UP, GSE14415_INDUCED_TREG_VS_FOXP3_KO_INDUCED_TREG_UP, ALKBH3_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (2): nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2

Protein interactions and networks

STRING

1382 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TTC14	MCCC1	Q96RQ3	518
TTC14	DNAJC19	Q96DA6	510
TTC14	SERINC2	Q96SA4	481
TTC14	ZMYND19	Q96E35	439
TTC14	FXR1	P51114	438
TTC14	PRKRIP1	Q9H875	422
TTC14	YJU2B	P13994	420
TTC14	SLC25A37	Q9NYZ2	414
TTC14	MBTPS2	O43462	411
TTC14	POLR2B	P30876	407
TTC14	CLDN18	P56856	404
TTC14	TTC31	Q49AM3	400
TTC14	DIS3L2	Q8IYB7	400
TTC14	TMEM168	Q9H0V1	377
TTC14	RSRC2	Q7L4I2	374
TTC14	CCDC28A	Q8IWP9	374

IntAct

17 interactions, top by confidence:

A	B	Type	Score
CEP70	TTC14	psi-mi:“MI:0915”(physical association)	0.370
ECE1	TTC14	psi-mi:“MI:0915”(physical association)	0.370
CCDC85B	TTC14	psi-mi:“MI:0915”(physical association)	0.370
SF3B2	TTC14	psi-mi:“MI:0915”(physical association)	0.370
CHERP	TTC14	psi-mi:“MI:0915”(physical association)	0.370
RBM39	TTC14	psi-mi:“MI:0915”(physical association)	0.370
TTC14	SRRM2	psi-mi:“MI:0915”(physical association)	0.370
SNW1	TTC14	psi-mi:“MI:0915”(physical association)	0.370
SNIP1	TTC14	psi-mi:“MI:0915”(physical association)	0.370
IK	TTC14	psi-mi:“MI:0915”(physical association)	0.370
FRA10AC1	TTC14	psi-mi:“MI:0915”(physical association)	0.370
ESS2	TTC14	psi-mi:“MI:0915”(physical association)	0.370
TTC14	NKAP	psi-mi:“MI:0915”(physical association)	0.370
Srsf1	SRRM1	psi-mi:“MI:0914”(association)	0.350
TTC14	AMPD3	psi-mi:“MI:0914”(association)	0.350
SS18	TTC14	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (44): TTC14 (Two-hybrid), TTC14 (Affinity Capture-MS), TTC14 (Affinity Capture-RNA), TTC14 (Proximity Label-MS), TTC14 (Proximity Label-MS), TTC14 (Proximity Label-MS), TTC14 (Proximity Label-MS), TTC14 (Proximity Label-MS), CDK10 (Affinity Capture-MS), AMPD3 (Affinity Capture-MS), FAM58A (Affinity Capture-MS), TTC14 (Negative Genetic), TTC14 (Affinity Capture-MS), TTC14 (Affinity Capture-MS), TTC14 (Affinity Capture-MS)

ESM2 similar proteins: A0A1S3XQD6, A0A1S4AX27, A1A5I1, A2AR02, A6QLS2, B0BN49, G2TRQ9, O14256, O55035, P30189, P30414, P41512, Q04750, Q07050, Q13427, Q27450, Q28EE8, Q3KPW4, Q4V9W2, Q505I5, Q59LQ5, Q5BKY9, Q5R8J6, Q5RJP9, Q5VTL8, Q5XHJ5, Q5ZLM8, Q6AXY7, Q6BNE1, Q6NQD9, Q6NWI1, Q6ZUT1, Q751P0, Q7L4I2, Q7YR26, Q80SY5, Q8GWY0, Q8N9E0, Q8N9Q2, Q8R0F5

Diamond homologs: P31948, Q4R8N7, Q96N46, Q9CSP9, Q9VGU5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 17 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
mRNA Splicing	5	42.2×	3e-06
mRNA Splicing - Major Pathway	9	37.8×	1e-11
Processing of Capped Intron-Containing Pre-mRNA	5	31.6×	9e-06
Dengue Virus-Host Interactions	5	17.6×	1e-04
Metabolism of RNA	5	16.0×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	8	45.8×	2e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	103
Likely benign	17
Benign	7

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1920614	NM_181426.2(CCDC39):c.2470C>T (p.Gln824Ter)	Pathogenic
3895523	NM_181426.2(CCDC39):c.2404C>T (p.Gln802Ter)	Likely pathogenic

SpliceAI

2178 predictions. Top by Δscore:

Variant	Effect	Δscore
3:180602509:G:GT	donor_gain	1.0000
3:180602536:G:GT	donor_gain	1.0000
3:180602886:TTAAG:T	acceptor_loss	1.0000
3:180602887:TAAGA:T	acceptor_loss	1.0000
3:180602888:A:AG	acceptor_gain	1.0000
3:180602888:AAGAA:A	acceptor_loss	1.0000
3:180602889:A:G	acceptor_gain	1.0000
3:180602890:G:GC	acceptor_gain	1.0000
3:180602890:GA:G	acceptor_gain	1.0000
3:180602890:GAA:G	acceptor_gain	1.0000
3:180602890:GAAA:G	acceptor_gain	1.0000
3:180602890:GAAAA:G	acceptor_gain	1.0000
3:180603014:AGG:A	donor_loss	1.0000
3:180603016:G:GG	donor_gain	1.0000
3:180603016:GTC:G	donor_loss	1.0000
3:180603017:T:A	donor_loss	1.0000
3:180603021:T:G	donor_gain	1.0000
3:180603120:TTA:T	acceptor_loss	1.0000
3:180603122:A:AG	acceptor_gain	1.0000
3:180603122:AGAT:A	acceptor_loss	1.0000
3:180603123:G:GA	acceptor_gain	1.0000
3:180603123:GAT:G	acceptor_gain	1.0000
3:180603123:GATC:G	acceptor_gain	1.0000
3:180603123:GATCA:G	acceptor_gain	1.0000
3:180603229:G:GT	donor_gain	1.0000
3:180603283:G:GT	donor_gain	1.0000
3:180603319:TCACA:T	donor_gain	1.0000
3:180603320:CACA:C	donor_gain	1.0000
3:180603322:CA:C	donor_gain	1.0000
3:180603323:AGTAA:A	donor_loss	1.0000

AlphaMissense

5077 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:180603229:G:A	G131E	1.000
3:180603252:T:C	F139L	1.000
3:180603254:C:A	F139L	1.000
3:180603254:C:G	F139L	1.000
3:180603255:G:C	G140R	1.000
3:180603256:G:A	G140D	1.000
3:180604226:C:A	A163D	1.000
3:180604231:T:C	C165R	1.000
3:180604233:T:G	C165W	1.000
3:180606263:G:A	G314R	1.000
3:180606263:G:C	G314R	1.000
3:180606264:G:A	G314E	1.000
3:180606264:G:T	G314V	1.000
3:180606275:T:C	F318L	1.000
3:180606277:T:A	F318L	1.000
3:180606277:T:G	F318L	1.000
3:180606299:G:C	A326P	1.000
3:180606300:C:A	A326D	1.000
3:180606311:T:C	Y330H	1.000
3:180606343:C:A	N340K	1.000
3:180606343:C:G	N340K	1.000
3:180606351:C:A	A343D	1.000
3:180606357:T:A	V345E	1.000
3:180606359:G:C	A346P	1.000
3:180606360:C:A	A346D	1.000
3:180606362:C:A	R347S	1.000
3:180606363:G:C	R347P	1.000
3:180606365:G:A	G348R	1.000
3:180606365:G:C	G348R	1.000
3:180606366:G:A	G348E	1.000

dbSNP variants (sampled 300 via entrez): RS1000004216 (3:180617589 T>C), RS1000014285 (3:180610983 G>A), RS1000035459 (3:180617381 G>A), RS1000095153 (3:180613646 T>A), RS1000342517 (3:180600512 G>T), RS1000458767 (3:180600729 C>G,T), RS1000755099 (3:180605118 A>G,T), RS1001043948 (3:180618730 T>C), RS1001278729 (3:180600224 C>G), RS1001298465 (3:180600977 G>A,T), RS1001394090 (3:180608010 G>C,T), RS1001608309 (3:180613411 T>G), RS1001767088 (3:180606654 C>G), RS1001944250 (3:180613679 A>C,G), RS1002268640 (3:180601629 A>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:613807, MIM:244400

GenCC curated gene-disease

Mondo (2): primary ciliary dyskinesia 14 (MONDO:0013434), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (1): Primary ciliary dyskinesia (Orphanet:244)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002726_21	Glucose homeostasis traits	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006831	acute insulin response measurement

MeSH disease descriptors (2)

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

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067188 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.72	Kd	1895	nM	CHEMBL3752910
5.72	ED50	1895	nM	CHEMBL3752910
5.63	Kd	2317	nM	CHEMBL5653589
5.63	ED50	2317	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149667: Binding affinity to human TTC14 incubated for 45 mins by Kinobead based pull down assay	kd	1.8951	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149667: Binding affinity to human TTC14 incubated for 45 mins by Kinobead based pull down assay	kd	2.3173	uM

CTD chemical–gene interactions

34 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	3
bisphenol A	affects expression, affects cotreatment, decreases expression	2
sodium arsenite	increases expression, increases abundance	2
Acetaminophen	decreases expression, affects response to substance	2
Valproic Acid	decreases expression, decreases methylation	2
aristolochic acid I	decreases expression	1
TAK-243	decreases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
hydroquinone	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
abrine	decreases expression	1
palbociclib	increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
jinfukang	decreases expression	1
Temozolomide	increases expression	1
Arsenic	increases abundance, increases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	increases phosphorylation	1
Dexamethasone	decreases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Indomethacin	decreases expression, affects cotreatment	1
Methyl Methanesulfonate	increases expression	1
Quercetin	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652709	Binding	Binding affinity to human TTC14 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

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
NCT02419365	Not specified	RECRUITING	International Primary Ciliary Dyskinesia (PCD) Registry
NCT02699177	Not specified	UNKNOWN	In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry
NCT02704455	Not specified	NOT_YET_RECRUITING	Registry Study on Primary Ciliary Dyskinesia in Chinese Children
NCT03271840	Not specified	COMPLETED	Registry for Primary Ciliary Dyskinesia
NCT03279965	Not specified	UNKNOWN	MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03320382	Not specified	UNKNOWN	Multiple Breath Washout, a Clinimetric Dataset
NCT03370029	Not specified	COMPLETED	Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia
NCT03494894	Not specified	COMPLETED	Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03517865	Not specified	ACTIVE_NOT_RECRUITING	International Primary Ciliary Dyskinesia Cohort
NCT03606200	Not specified	RECRUITING	Swiss Primary Ciliary Dyskinesia Registry
NCT03704207	Not specified	RECRUITING	Utility of PCD Diagnostics to Improve Clinical Care
NCT03704896	Not specified	UNKNOWN	PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients
NCT03801395	Not specified	COMPLETED	PCD New Gene Discovery
NCT03809091	Not specified	UNKNOWN	WGS of Korean Idiopathic Bronchiectasis
NCT03832491	Not specified	COMPLETED	Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia
NCT04161313	Not specified	COMPLETED	Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With CF, PCD and Healthy Children
NCT04476433	Not specified	COMPLETED	Intervention in Chronic Pediatric Patients and Their Families.
NCT04489472	Not specified	UNKNOWN	The Effect of a Dietary Supplement Rich in Nitric Oxide in Patients Diagnosed With Primary Ciliary Dyskinesia.
NCT04602481	Not specified	RECRUITING	Living With Primary Ciliary Dyskinesia (Living With PCD)