ODAD1

Summary

ODAD1 (outer dynein arm docking complex subunit 1, HGNC:26560) is a protein-coding gene on chromosome 19q13.33, encoding Outer dynein arm-docking complex subunit 1 (Q96M63). Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule.

This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20.

Source: NCBI Gene 93233 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 20 (Definitive, ClinGen) — +1 more curated relationship
• Clinical variants (ClinVar): 602 total — 17 pathogenic, 11 likely-pathogenic
• Phenotypes (HPO): 64
• MANE Select transcript: NM_001364171

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26560
Approved symbol	ODAD1
Name	outer dynein arm docking complex subunit 1
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32926, CILD20
Ensembl gene	ENSG00000105479
Ensembl biotype	protein_coding
OMIM	615038
Entrez	93233

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000315396, ENST00000474199, ENST00000483610, ENST00000497273, ENST00000497803, ENST00000504608, ENST00000674207, ENST00000674234, ENST00000674294, ENST00000859782, ENST00000859783, ENST00000859784, ENST00000964366

RefSeq mRNA: 2 — MANE Select: NM_001364171 NM_001364171, NM_144577

CCDS: CCDS12714, CCDS92659

Canonical transcript exons

ENST00000674294 — 16 exons

Exon	Start	End
ENSE00003458218	48311553	48311666
ENSE00003516450	48297590	48297668
ENSE00003528609	48303013	48303095
ENSE00003539085	48298177	48298340
ENSE00003542395	48303650	48303784
ENSE00003570345	48303953	48304140
ENSE00003584026	48306256	48306323
ENSE00003612296	48318713	48318812
ENSE00003612370	48302694	48302862
ENSE00003625538	48311994	48312116
ENSE00003632107	48298000	48298097
ENSE00003649748	48318387	48318576
ENSE00003706786	48320299	48320391
ENSE00003898284	48320772	48320811
ENSE00003898526	48321678	48321971
ENSE00003898545	48296462	48297518

Expression profiles

Bgee: expression breadth ubiquitous, 174 present calls, max score 99.52.

FANTOM5 (CAGE): breadth broad, TPM avg 2.5071 / max 125.0914, expressed in 631 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181829	1.2889	381
181830	0.9147	296
181828	0.3035	94

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	99.52	gold quality
right uterine tube	UBERON:0001302	99.22	gold quality
bronchial epithelial cell	CL:0002328	97.46	gold quality
bronchus	UBERON:0002185	95.84	gold quality
left testis	UBERON:0004533	91.63	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.21	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.98	gold quality
right testis	UBERON:0004534	90.86	gold quality
sperm	CL:0000019	90.19	gold quality
fallopian tube	UBERON:0003889	89.41	gold quality
testis	UBERON:0000473	88.80	gold quality
epithelium of nasopharynx	UBERON:0001951	84.49	gold quality
nasal cavity mucosa	UBERON:0001826	80.82	gold quality
nasal cavity epithelium	UBERON:0005384	80.22	gold quality
left uterine tube	UBERON:0001303	78.60	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.95	gold quality
right lung	UBERON:0002167	76.92	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	74.44	gold quality
cardiac muscle of right atrium	UBERON:0003379	73.44	gold quality
left ventricle myocardium	UBERON:0006566	73.32	gold quality
caput epididymis	UBERON:0004358	72.85	gold quality
tendon of biceps brachii	UBERON:0008188	72.17	gold quality
endocervix	UBERON:0000458	70.99	gold quality
secondary oocyte	CL:0000655	70.24	silver quality
hypothalamus	UBERON:0001898	70.10	gold quality
adult organism	UBERON:0007023	69.66	gold quality
myocardium	UBERON:0002349	67.85	gold quality
caudate nucleus	UBERON:0001873	67.38	gold quality
adenohypophysis	UBERON:0002196	66.86	gold quality
pituitary gland	UBERON:0000007	66.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting ODAD1, 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-4283	100.00	66.42	2097
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-6743-5P	99.48	63.60	721
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-6878-5P	98.49	67.91	2142
HSA-MIR-7114-3P	98.42	66.53	569
HSA-MIR-6864-5P	98.38	66.59	1079
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-4768-3P	98.16	66.02	2330
HSA-MIR-1180-5P	98.16	65.32	460

Literature-anchored findings (GeneRIF, showing 5)

• These results revealed that mutations in CCDC114 are a cause of ciliary dysmotility and PCD and further demonstrate the utility of exome sequencing to identify genetic causes in heterogeneous recessive disorders. (PMID:23261302)
• Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia (PMID:23261303)
• CCDC114 mutation is associated with primary ciliary dyskinesia, sensorineural deafness, and renal disease. (PMID:30291279)
• Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype. (PMID:35163670)
• Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation. (PMID:35343062)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	odad1	ENSDARG00000015010
rattus_norvegicus	Odad1	ENSRNOG00000021109

Paralogs (3): CCDC63 (ENSG00000173093), ODAD3 (ENSG00000198003), TMEM141 (ENSG00000244187)

Protein

Protein identifiers

Outer dynein arm-docking complex subunit 1 — Q96M63 (reviewed: Q96M63)

Alternative names: Coiled-coil domain-containing protein 114

All UniProt accessions (5): Q96M63, A0A6I8PL46, A0A6I8PTY8, A0A6I8PTZ2, A0A6I8PU59

UniProt curated annotations — full annotation on UniProt →

Function. Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Involved in mediating assembly of both ODAs and their axonemal docking complex onto ciliary microtubules.

Subunit / interactions. Component of the outer dynein arm-docking complex along with ODAD2, ODAD3, ODAD4 and CLXN. Interacts with ODAD3. Interacts with ODAD4; this interaction may facilitate the recruitment and/or attachment of outer dynein arm docking complex proteins, including ODAD1, ODAD3, and ODAD4 to ciliary axonemes. Interacts with DNAH9. Interacts with MNS1. Interacts with PIERCE1 and PIERCE2; the interactions link the outer dynein arms docking complex (ODA-DC) to the internal microtubule inner proteins (MIP) in cilium axoneme.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme.

Tissue specificity. Expressed in nasal epithelial cells. Highly expressed in testis and also detected in lung, brain and kidney.

Disease relevance. Ciliary dyskinesia, primary, 20 (CILD20) [MIM:615067] 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. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile. The disease is caused by variants affecting the gene represented in this entry. The genetic variation producing the missense variant p.A248T, associated with CILD20, has been shown to predominantly affect splicing, yielding aberrant transcripts carrying premature translation termination signals. Only very low expression levels of the transcript carrying the missense could be detected in patients’ nasal epithelial cells.

Similarity. Belongs to the ODA1/DCC2 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96M63-1	1	yes
Q96M63-4	2
Q96M63-5	3

RefSeq proteins (2): NP_001351100, NP_653178 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR049258	ODAD1_CC	Domain
IPR051876	ODA-DC/CCD	Family

Pfam: PF21773

UniProt features (17 total): region of interest 3, splice variant 3, sequence variant 3, coiled-coil region 3, compositionally biased region 2, chain 1, sequence conflict 1, modified residue 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-Q96M63-F1	73.25	0.41

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 (1): 517

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 187 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_OUTER_DYNEIN_ARM_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, GOCC_CYTOPLASMIC_REGION, LEIN_CHOROID_PLEXUS_MARKERS, GOCC_DYNEIN_COMPLEX

GO Biological Process (2): cilium movement (GO:0003341), outer dynein arm assembly (GO:0036158)

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

GO Cellular Component (7): cilium (GO:0005929), axoneme (GO:0005930), outer dynein arm (GO:0036157), outer dynein arm docking complex (GO:0120228), 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
microtubule-based movement	1
axonemal dynein complex assembly	1
binding	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
axonemal dynein complex	1
axoneme	1
protein-containing complex	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1115 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ODAD1	ODAD2	Q5T2S8	975
ODAD1	ODAD3	A5D8V7	933
ODAD1	ODAD4	Q96NG3	873
ODAD1	DNAH5	Q8TE73	854
ODAD1	DNAI2	Q9GZS0	832
ODAD1	DNAI1	Q9UI46	806
ODAD1	NME8	Q8N427	799
ODAD1	RSPH1	Q8WYR4	787
ODAD1	DNAAF19	Q8IW40	785
ODAD1	CCDC40	Q4G0X9	778
ODAD1	DNAH11	Q96DT5	771
ODAD1	CCDC39	Q9UFE4	769
ODAD1	RSPH4A	Q5TD94	745
ODAD1	DNAAF5	Q86Y56	742
ODAD1	DNAAF11	Q86X45	737

IntAct

43 interactions, top by confidence:

A	B	Type	Score
HGS	ODAD1	psi-mi:“MI:0915”(physical association)	0.850
ODAD1	HGS	psi-mi:“MI:0915”(physical association)	0.850
ODAD1	HGS	psi-mi:“MI:0914”(association)	0.850
ODAD1	C1orf216	psi-mi:“MI:0915”(physical association)	0.720
C1orf216	ODAD1	psi-mi:“MI:0915”(physical association)	0.720
HAUS1	ODAD1	psi-mi:“MI:0915”(physical association)	0.670
ODAD1	HAUS1	psi-mi:“MI:0915”(physical association)	0.670
ODAD3	ODAD1	psi-mi:“MI:0915”(physical association)	0.560
ODAD1	KLC1	psi-mi:“MI:0915”(physical association)	0.560
TPM3	ODAD1	psi-mi:“MI:0915”(physical association)	0.560
LNX1	ODAD1	psi-mi:“MI:0915”(physical association)	0.560
TXN2	ODAD1	psi-mi:“MI:0915”(physical association)	0.560
ODAD1	TPM3	psi-mi:“MI:0915”(physical association)	0.560
ODAD1	ODAD3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (66): CCDC114 (Two-hybrid), CCDC114 (Two-hybrid), CCDC114 (Two-hybrid), CCDC114 (Two-hybrid), CCDC114 (Two-hybrid), HAUS1 (Two-hybrid), CCDC151 (Two-hybrid), C1orf216 (Two-hybrid), CCDC114 (Synthetic Growth Defect), CCDC114 (Two-hybrid), C1orf216 (Two-hybrid), HGS (Two-hybrid), COMMD4 (Affinity Capture-MS), IFT74 (Affinity Capture-MS), SETDB1 (Affinity Capture-MS)

ESM2 similar proteins: A8BE61, A8HQ54, A8I4E9, A8IQE0, A8J0N6, A8JB22, A8JF70, A8PKH2, A9UQN0, B0WTU5, B3MNR6, B4G831, B4JAL5, B4Q9E6, F1N2N9, M1V4Y8, O14777, O15697, O61493, O76878, P0DL09, Q08C53, Q16VW9, Q2XQY7, Q4R630, Q54CV3, Q567U6, Q5BJT7, Q5U4X5, Q5ZKI4, Q640U7, Q68RJ5, Q6DHI2, Q6DRJ7, Q6GQI5, Q6I6D4, Q6RCE1, Q76I89, Q7PWT9, Q7PZ96

Diamond homologs: B1H228, F1N2N9, Q3UX62, Q96M63

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	17
Likely pathogenic	11
Uncertain significance	265
Likely benign	223
Benign	38

Top pathogenic / likely-pathogenic (28)

Variant ID	HGVS	Classification
1073813	NM_001364171.2(ODAD1):c.133del (p.Tyr45fs)	Pathogenic
1322037	NM_001364171.2(ODAD1):c.742C>T (p.Gln248Ter)	Pathogenic
1799614	NM_001364171.2(ODAD1):c.451del (p.Arg151fs)	Pathogenic
1799655	NM_001364171.2(ODAD1):c.424del (p.Leu142fs)	Pathogenic
1799681	NM_001364171.2(ODAD1):c.170+1G>A	Pathogenic
2154237	NM_001364171.2(ODAD1):c.151C>T (p.Gln51Ter)	Pathogenic
2427292	NC_000019.9:g.(?48821624)(48822028_?)del	Pathogenic
2427293	NC_000019.9:g.(?48800233)(48809600_?)del	Pathogenic
2736917	NM_001364171.2(ODAD1):c.483+1G>A	Pathogenic
3248368	NC_000019.9:g.(?48809493)(48809600_?)del	Pathogenic
3248621	NM_001364171.2(ODAD1):c.1246C>T (p.Gln416Ter)	Pathogenic
3383099	NM_001364171.2(ODAD1):c.71-2A>C	Pathogenic
39639	NM_001364171.2(ODAD1):c.598-2A>G	Pathogenic
39641	NM_001364171.2(ODAD1):c.1050del (p.His350fs)	Pathogenic
4722114	NC_000019.10:g.48311667del	Pathogenic
525210	NM_001364171.2(ODAD1):c.398del (p.Lys133fs)	Pathogenic
580269	NM_001364171.2(ODAD1):c.1514dup (p.Phe507_Glu508insTer)	Pathogenic
1723223	NM_001364171.2(ODAD1):c.97C>T (p.Arg33Ter)	Likely pathogenic
2687745	NM_001364171.2(ODAD1):c.1057dup (p.Glu353fs)	Likely pathogenic
2819700	NM_001364171.2(ODAD1):c.988+2T>C	Likely pathogenic
2851020	NM_001364171.2(ODAD1):c.1503-2A>G	Likely pathogenic
3893032	NM_001364171.2(ODAD1):c.598-2A>C	Likely pathogenic
406188	NM_001364171.2(ODAD1):c.988+5G>A	Likely pathogenic
4712070	NM_001364171.2(ODAD1):c.170+2T>C	Likely pathogenic
4734553	NM_001364171.2(ODAD1):c.1405-2A>G	Likely pathogenic
4749750	NM_001364171.2(ODAD1):c.665+1G>A	Likely pathogenic
4777123	NM_001364171.2(ODAD1):c.360+1G>A	Likely pathogenic
832093	NC_000019.10:g.(?48302674)(48312136_?)dup	Likely pathogenic

SpliceAI

2420 predictions. Top by Δscore:

Variant	Effect	Δscore
19:48297998:A:AC	donor_gain	1.0000
19:48297999:C:CC	donor_gain	1.0000
19:48298340:TC:T	acceptor_loss	1.0000
19:48298347:C:CT	acceptor_gain	1.0000
19:48302688:GCTCA:G	donor_loss	1.0000
19:48302689:CTCA:C	donor_loss	1.0000
19:48302690:TCA:T	donor_loss	1.0000
19:48302691:CA:C	donor_loss	1.0000
19:48302692:A:AC	donor_gain	1.0000
19:48302692:ACC:A	donor_loss	1.0000
19:48302693:C:CA	donor_loss	1.0000
19:48302693:C:CC	donor_gain	1.0000
19:48302693:CCAG:C	donor_gain	1.0000
19:48302726:T:TA	donor_gain	1.0000
19:48303009:TCAC:T	donor_loss	1.0000
19:48303011:A:AC	donor_gain	1.0000
19:48303011:ACCT:A	donor_gain	1.0000
19:48303011:ACCTC:A	donor_gain	1.0000
19:48303012:C:CA	donor_loss	1.0000
19:48303012:C:CC	donor_gain	1.0000
19:48303012:CCT:C	donor_gain	1.0000
19:48303012:CCTC:C	donor_gain	1.0000
19:48303012:CCTCC:C	donor_gain	1.0000
19:48303014:T:TA	donor_gain	1.0000
19:48303026:T:TA	donor_gain	1.0000
19:48303091:CTCGA:C	acceptor_gain	1.0000
19:48303092:TCGA:T	acceptor_gain	1.0000
19:48303093:CGA:C	acceptor_gain	1.0000
19:48303093:CGAC:C	acceptor_gain	1.0000
19:48303093:CGACT:C	acceptor_loss	1.0000

AlphaMissense

4676 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:48311641:A:G	L133P	0.986
19:48311630:C:G	A137P	0.983
19:48311560:A:G	L160P	0.980
19:48311620:C:G	R140P	0.980
19:48303070:G:C	F301L	0.973
19:48303070:G:T	F301L	0.973
19:48303072:A:G	F301L	0.973
19:48311602:A:G	L146P	0.972
19:48311611:A:G	L143P	0.968
19:48311652:A:C	F129L	0.968
19:48311652:A:T	F129L	0.968
19:48311654:A:G	F129L	0.968
19:48304133:C:G	A188P	0.962
19:48311623:A:G	L139P	0.961
19:48311584:C:G	R152P	0.959
19:48304017:G:C	F226L	0.957
19:48304017:G:T	F226L	0.957
19:48304019:A:G	F226L	0.957
19:48306310:A:G	L167P	0.957
19:48298208:A:G	L421P	0.954
19:48303053:T:G	Q307P	0.953
19:48311599:C:G	R147P	0.952
19:48311644:T:G	Q132P	0.952
19:48304005:C:A	K230N	0.949
19:48304005:C:G	K230N	0.949
19:48298220:C:G	R417P	0.945
19:48298226:T:A	E415V	0.942
19:48306289:A:G	L174P	0.939
19:48311633:T:C	N136D	0.939
19:48311631:A:C	N136K	0.936

dbSNP variants (sampled 300 via entrez): RS1000004786 (19:48321505 C>G,T), RS1000198128 (19:48309431 C>A,G,T), RS1000228674 (19:48319968 G>A,C,T), RS1000541993 (19:48307921 A>T), RS1000804335 (19:48318726 T>C), RS1000826412 (19:48299312 G>A), RS1000826713 (19:48308336 G>A), RS1000849574 (19:48308863 C>G,T), RS1001004465 (19:48314259 A>C), RS1001173865 (19:48297746 G>A), RS1001179579 (19:48302603 T>C), RS1001433528 (19:48313445 A>C), RS1001441988 (19:48314641 A>C), RS1001528795 (19:48314268 C>T), RS1001558024 (19:48308504 T>A)

Disease associations

OMIM: gene MIM:615038 | disease phenotypes: MIM:615067, MIM:244400, MIM:617667, MIM:616028

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 20	Definitive	Autosomal recessive
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 20	Definitive	AR

Mondo (5): primary ciliary dyskinesia 20 (MONDO:0014030), primary ciliary dyskinesia (MONDO:0016575), Fraser syndrome 3 (MONDO:0054739), primary ciliary dyskinesia 1 (MONDO:0009484), Adams-Oliver syndrome 5 (MONDO:0014459)

Orphanet (3): Primary ciliary dyskinesia (Orphanet:244), Adams-Oliver syndrome (Orphanet:974), Primary ciliary dyskinesia, Kartagener type (Orphanet:98861)

HPO phenotypes

64 total (30 of 64 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000119	Abnormality of the genitourinary system
HP:0000144	Decreased fertility
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:0001629	Ventricular septal defect
HP:0001650	Aortic valve stenosis
HP:0001651	Dextrocardia
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:0002092	Pulmonary arterial hypertension
HP:0002105	Hemoptysis
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002205	Recurrent respiratory infections
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation

GWAS associations

0 associations (top):

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: 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
Smoke	decreases expression, increases abundance, increases expression	3
Air Pollutants	increases abundance, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
GSK-J4	decreases expression	1
fluorene-9-bisphenol	decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	increases methylation	1
entinostat	increases expression	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Estradiol	decreases expression	1
Methapyrilene	decreases methylation	1
Aflatoxin B1	increases methylation	1
Particulate Matter	increases abundance, 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
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)