ODAD3

Summary

ODAD3 (outer dynein arm docking complex subunit 3, HGNC:28303) is a protein-coding gene on chromosome 19p13.2, encoding Outer dynein arm-docking complex subunit 3 (A5D8V7). 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 protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 115948 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 30 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 442 total — 19 pathogenic, 18 likely-pathogenic
• Phenotypes (HPO): 60
• MANE Select transcript: NM_145045

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28303
Approved symbol	ODAD3
Name	outer dynein arm docking complex subunit 3
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC20983, ODA10
Ensembl gene	ENSG00000198003
Ensembl biotype	protein_coding
OMIM	615956
Entrez	115948

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000356392, ENST00000586836, ENST00000591179, ENST00000591345, ENST00000593281, ENST00000861507

RefSeq mRNA: 3 — MANE Select: NM_145045 NM_001302453, NM_001302454, NM_145045

CCDS: CCDS42501, CCDS77237

Canonical transcript exons

ENST00000356392 — 13 exons

Exon	Start	End
ENSE00001117536	11420605	11420947
ENSE00002892831	11434773	11435121
ENSE00003553596	11421128	11421212
ENSE00003572968	11430699	11430776
ENSE00003586849	11430899	11431020
ENSE00003591299	11423877	11424029
ENSE00003592605	11426683	11426784
ENSE00003613719	11422471	11422627
ENSE00003630588	11426446	11426571
ENSE00003655172	11426144	11426266
ENSE00003668011	11421677	11421832
ENSE00003676348	11422701	11422861
ENSE00003681088	11426873	11427040

Expression profiles

Bgee: expression breadth ubiquitous, 177 present calls, max score 95.78.

FANTOM5 (CAGE): breadth broad, TPM avg 0.4492 / max 23.2611, expressed in 214 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179236	0.4317	212
179237	0.0176	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	95.78	gold quality
bronchus	UBERON:0002185	94.37	gold quality
right uterine tube	UBERON:0001302	92.99	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.91	gold quality
nasal cavity epithelium	UBERON:0005384	82.95	silver quality
mucosa of paranasal sinus	UBERON:0005030	82.08	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	80.86	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.79	gold quality
cardiac muscle of right atrium	UBERON:0003379	80.59	gold quality
left ventricle myocardium	UBERON:0006566	80.11	gold quality
left testis	UBERON:0004533	79.08	gold quality
right testis	UBERON:0004534	78.80	gold quality
kidney epithelium	UBERON:0004819	78.33	gold quality
pituitary gland	UBERON:0000007	78.18	gold quality
oviduct epithelium	UBERON:0004804	77.76	silver quality
testis	UBERON:0000473	77.00	gold quality
adenohypophysis	UBERON:0002196	76.69	gold quality
pancreatic ductal cell	CL:0002079	76.54	silver quality
decidua	UBERON:0002450	76.37	gold quality
fallopian tube	UBERON:0003889	75.14	gold quality
epithelium of nasopharynx	UBERON:0001951	73.60	silver quality
caudate nucleus	UBERON:0001873	72.79	gold quality
tibialis anterior	UBERON:0001385	72.17	silver quality
caput epididymis	UBERON:0004358	71.54	silver quality
hypothalamus	UBERON:0001898	71.47	gold quality
myocardium	UBERON:0002349	71.18	gold quality
right frontal lobe	UBERON:0002810	71.11	gold quality
Ammon’s horn	UBERON:0001954	70.95	gold quality
seminal vesicle	UBERON:0000998	70.94	gold quality
nucleus accumbens	UBERON:0001882	70.90	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.45
E-MTAB-8060	no	93.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting ODAD3, 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-6748-5P	100.00	65.81	1057
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-4318	99.38	66.94	1505
HSA-MIR-4693-5P	97.35	67.02	1234
HSA-MIR-134-3P	96.83	66.22	1001
HSA-MIR-1292-5P	96.74	62.14	238
HSA-MIR-4485-5P	95.91	59.69	198

Literature-anchored findings (GeneRIF, showing 4)

• CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. (PMID:25192045)
• observed a novel nonsense mutation in a homozygous state in the CCDC151 gene (NM_145045.4:c.925G>T:p.[E309*]) in a clinically diagnosed PCD patient from a consanguineous family of Arabic ancestry (PMID:25224326)
• CCDC151 mutation is associated with primary ciliary dyskinesia and situs inversus. (PMID:30504913)
• Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome. (PMID:32490514)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	odad3	ENSDARG00000062978
mus_musculus	Odad3	ENSMUSG00000039632
rattus_norvegicus	Odad3	ENSRNOG00000013263
drosophila_melanogaster	CG42488	FBGN0259991

Paralogs (3): ODAD1 (ENSG00000105479), CCDC63 (ENSG00000173093), TMEM141 (ENSG00000244187)

Protein

Protein identifiers

Outer dynein arm-docking complex subunit 3 — A5D8V7 (reviewed: A5D8V7)

Alternative names: Coiled-coil domain-containing protein 151

All UniProt accessions (4): A5D8V7, K7EN59, K7EPB4, K7EPK8

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 ODAD1, ODAD2, ODAD4 and CLXN. Interacts with ODAD1. 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 basal body. Microtubule organizing center. Centrosome. Centriole. Cilium axoneme.

Disease relevance. Ciliary dyskinesia, primary, 30 (CILD30) [MIM:616037] 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. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
A5D8V7-1	1	yes
A5D8V7-2	2

RefSeq proteins (3): NP_001289382, NP_001289383, NP_659482* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033192	ODAD3	Family

UniProt features (7 total): coiled-coil region 2, chain 1, region of interest 1, splice variant 1, sequence variant 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-A5D8V7-F1	77.97	0.41

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 211 (showing top): TGACCTY_ERR1_Q2, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, YY1_Q6, GOCC_MICROTUBULE_ORGANIZING_CENTER, COUP_01, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, YY1_02, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, HNF4_DR1_Q3, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_OUTER_DYNEIN_ARM_ASSEMBLY, HNF4_01

GO Biological Process (18): cell morphogenesis (GO:0000902), cilium movement (GO:0003341), spermatogenesis (GO:0007283), single fertilization (GO:0007338), determination of left/right symmetry (GO:0007368), brain development (GO:0007420), flagellated sperm motility (GO:0030317), multicellular organism growth (GO:0035264), outer dynein arm assembly (GO:0036158), homeostasis of number of cells (GO:0048872), epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287), determination of heart left/right asymmetry (GO:0061371), seminiferous tubule development (GO:0072520), cerebrospinal fluid circulation (GO:0090660), regulation of cilium assembly (GO:1902017), heart development (GO:0007507), cell projection organization (GO:0030030), cilium organization (GO:0044782)

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

GO Cellular Component (12): extracellular region (GO:0005576), centriole (GO:0005814), cilium (GO:0005929), axoneme (GO:0005930), ciliary rootlet (GO:0035253), ciliary basal body (GO:0036064), sperm flagellum (GO:0036126), ciliary tip (GO:0097542), 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	6
cilium	3
animal organ development	2
epithelial cilium movement involved in extracellular fluid movement	2
determination of left/right symmetry	2
microtubule organizing center	2
intracellular membraneless organelle	2
cytoskeleton	2
anatomical structure morphogenesis	1
microtubule-based movement	1
developmental process involved in reproduction	1
male gamete generation	1
fertilization	1
determination of bilateral symmetry	1
left/right pattern formation	1
central nervous system development	1
head development	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
multicellular organismal process	1
developmental growth	1
axonemal dynein complex assembly	1
multicellular organismal-level homeostasis	1
heart development	1
male gonad development	1
tube development	1
reproductive structure development	1
nervous system process	1
cilium assembly	1
regulation of plasma membrane bounded cell projection assembly	1
regulation of organelle assembly	1
circulatory system development	1
cellular component organization	1
organelle organization	1
plasma membrane bounded cell projection organization	1
binding	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

1670 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ODAD3	ODAD2	Q5T2S8	961
ODAD3	ODAD1	Q96M63	933
ODAD3	ODAD4	Q96NG3	896
ODAD3	CCDC63	Q8NA47	765
ODAD3	CCDC40	Q4G0X9	754
ODAD3	NME8	Q8N427	742
ODAD3	DNAAF19	Q8IW40	726
ODAD3	DNAI2	Q9GZS0	726
ODAD3	CCDC39	Q9UFE4	724
ODAD3	DNAAF3	Q8N9W5	717
ODAD3	DNAI1	Q9UI46	717
ODAD3	CFAP298	P57076	715
ODAD3	DNAH5	Q8TE73	696
ODAD3	RSPH4A	Q5TD94	689
ODAD3	DNAAF4	Q8WXU2	677

IntAct

68 interactions, top by confidence:

A	B	Type	Score
ODAD3	TFIP11	psi-mi:“MI:0915”(physical association)	0.720
TFIP11	ODAD3	psi-mi:“MI:0915”(physical association)	0.720
ODAD3	NECAB2	psi-mi:“MI:0915”(physical association)	0.560
TXLNB	ODAD3	psi-mi:“MI:0915”(physical association)	0.560
ODAD3	ODAD1	psi-mi:“MI:0915”(physical association)	0.560
ODAD3	TXLNB	psi-mi:“MI:0915”(physical association)	0.560
NECAB2	ODAD3	psi-mi:“MI:0915”(physical association)	0.560
ODAD1	ODAD3	psi-mi:“MI:0915”(physical association)	0.560
ODAD3	RABEP1	psi-mi:“MI:0915”(physical association)	0.560
ODAD3	MTUS2	psi-mi:“MI:0915”(physical association)	0.560
	ODAD3	psi-mi:“MI:0915”(physical association)	0.560
ODAD3	KRT27	psi-mi:“MI:0915”(physical association)	0.560
ODAD3	USHBP1	psi-mi:“MI:0915”(physical association)	0.560
ODAD3	KRT24	psi-mi:“MI:0915”(physical association)	0.560
ODAD3	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
ODAD3	GLE1	psi-mi:“MI:0915”(physical association)	0.560
ODAD3	GSN	psi-mi:“MI:0915”(physical association)	0.560
ODAD3	HRAS	psi-mi:“MI:0915”(physical association)	0.560
KLF11	ODAD3	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	ODAD3	psi-mi:“MI:0915”(physical association)	0.560
ODAD3	SPRED1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (79): CCDC151 (Two-hybrid), CCDC151 (Two-hybrid), CCDC151 (Two-hybrid), TXLNB (Two-hybrid), HERC2 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS), IFT46 (Affinity Capture-MS), COMMD4 (Affinity Capture-MS), GOPC (Affinity Capture-MS), IFT88 (Affinity Capture-MS), RGPD5 (Affinity Capture-MS), CENPH (Affinity Capture-MS), IFT74 (Affinity Capture-MS), CCDC22 (Affinity Capture-MS), COMMD3 (Affinity Capture-MS)

ESM2 similar proteins: A2AJB1, A5D8V7, A6QQM8, A7MBH5, A7S8T5, A8E4X8, B0BMJ2, B1H228, D3Z5T1, D6REC4, O60826, P86182, Q1RMI8, Q2M329, Q32KY1, Q32LK9, Q3UX62, Q494V2, Q4R8V8, Q4V8F7, Q4V909, Q571B6, Q5JU67, Q5SPX1, Q5SV66, Q5T5N4, Q5T5S1, Q5XI03, Q5XI65, Q62036, Q6NTM6, Q6NVC9, Q7T0Y4, Q80VN0, Q8BSN3, Q8BVV7, Q8CDV6, Q8N9B5, Q8NA47, Q8TF30

Diamond homologs: A5D8V7, A7MBH5, Q8BSN3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	19
Likely pathogenic	18
Uncertain significance	181
Likely benign	177
Benign	32

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1012312	NM_145045.5(ODAD3):c.75del (p.Arg26fs)	Pathogenic
156366	NM_145045.5(ODAD3):c.1256C>A (p.Ser419Ter)	Pathogenic
1682783	NM_145045.5(ODAD3):c.591_592del (p.Asn197fs)	Pathogenic
2140004	NM_145045.5(ODAD3):c.938_939del (p.Leu313fs)	Pathogenic
2695507	NM_145045.5(ODAD3):c.708T>G (p.Tyr236Ter)	Pathogenic
2733122	NM_145045.5(ODAD3):c.118C>T (p.Arg40Ter)	Pathogenic
2755194	NM_145045.5(ODAD3):c.49C>T (p.Gln17Ter)	Pathogenic
2862704	NM_145045.5(ODAD3):c.903_906del (p.Ile301fs)	Pathogenic
2863183	NM_145045.5(ODAD3):c.522del (p.Gln175fs)	Pathogenic
2885350	NM_145045.5(ODAD3):c.874C>T (p.Arg292Ter)	Pathogenic
3701029	NM_145045.5(ODAD3):c.1585del (p.Arg529fs)	Pathogenic
4531302	NM_145045.5(ODAD3):c.1445_1446del (p.Arg482fs)	Pathogenic
4710580	NM_145045.5(ODAD3):c.411G>A (p.Trp137Ter)	Pathogenic
477980	NM_145045.5(ODAD3):c.267dup (p.Glu90Ter)	Pathogenic
521708	NM_145045.5(ODAD3):c.1060C>T (p.Gln354Ter)	Pathogenic
570784	NM_145045.5(ODAD3):c.583_595dup (p.His199fs)	Pathogenic
647259	NM_145045.5(ODAD3):c.487C>T (p.Gln163Ter)	Pathogenic
830990	NC_000019.9:g.(?11541499)(11545857_?)del	Pathogenic
996146	NM_145045.5(ODAD3):c.1166_1169dup (p.Leu391fs)	Pathogenic
1324025	NM_145045.5(ODAD3):c.423C>A (p.Tyr141Ter)	Likely pathogenic
1959852	NM_145045.5(ODAD3):c.367-1G>A	Likely pathogenic
2044380	NM_145045.5(ODAD3):c.1116+1G>A	Likely pathogenic
2631363	NM_145045.5(ODAD3):c.1109_1113del (p.Glu370fs)	Likely pathogenic
2921012	NM_145045.5(ODAD3):c.694C>T (p.Gln232Ter)	Likely pathogenic
2991253	NM_145045.5(ODAD3):c.244+5G>T	Likely pathogenic
3064081	NM_145045.5(ODAD3):c.244+1G>A	Likely pathogenic
3064090	NM_145045.5(ODAD3):c.787G>T (p.Glu263Ter)	Likely pathogenic
3068087	NM_145045.5(ODAD3):c.378del (p.Val127fs)	Likely pathogenic
3242104	NM_145045.5(ODAD3):c.405G>A (p.Trp135Ter)	Likely pathogenic
3362312	NM_145045.5(ODAD3):c.281G>A (p.Trp94Ter)	Likely pathogenic

SpliceAI

2537 predictions. Top by Δscore:

Variant	Effect	Δscore
19:11420948:C:CC	acceptor_gain	1.0000
19:11421213:C:CC	acceptor_gain	1.0000
19:11421635:A:AC	donor_gain	1.0000
19:11421635:ACT:A	donor_gain	1.0000
19:11421636:C:CC	donor_gain	1.0000
19:11421636:CTC:C	donor_gain	1.0000
19:11421678:T:TA	donor_gain	1.0000
19:11421702:ATCT:A	donor_gain	1.0000
19:11421705:T:TA	donor_gain	1.0000
19:11422624:CTGG:C	acceptor_gain	1.0000
19:11422625:TGG:T	acceptor_gain	1.0000
19:11422628:C:CC	acceptor_gain	1.0000
19:11422857:AACGA:A	acceptor_gain	1.0000
19:11422858:ACGA:A	acceptor_gain	1.0000
19:11422859:CGA:C	acceptor_gain	1.0000
19:11422859:CGAC:C	acceptor_gain	1.0000
19:11422862:C:CC	acceptor_gain	1.0000
19:11422862:CT:C	acceptor_loss	1.0000
19:11423873:T:TA	donor_loss	1.0000
19:11423875:A:AC	donor_gain	1.0000
19:11423875:A:AT	donor_loss	1.0000
19:11423876:C:CA	donor_gain	1.0000
19:11423876:CG:C	donor_gain	1.0000
19:11423876:CGTG:C	donor_gain	1.0000
19:11424035:C:CT	acceptor_gain	1.0000
19:11424136:C:CC	acceptor_gain	1.0000
19:11426139:CCCA:C	donor_loss	1.0000
19:11426140:CCAC:C	donor_loss	1.0000
19:11426142:A:AG	donor_loss	1.0000
19:11426143:CCTT:C	donor_loss	1.0000

AlphaMissense

3899 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:11426730:C:G	A223P	0.994
19:11426751:C:G	A216P	0.991
19:11426762:C:G	R212P	0.988
19:11426699:A:G	L233P	0.983
19:11426759:A:G	L213P	0.982
19:11426687:A:G	L237P	0.976
19:11426217:C:G	R297P	0.974
19:11426771:A:G	L209P	0.974
19:11426752:C:A	K215N	0.972
19:11426752:C:G	K215N	0.972
19:11426739:C:G	A220P	0.971
19:11426740:C:A	K219N	0.971
19:11426740:C:G	K219N	0.971
19:11426777:C:G	R207P	0.971
19:11426472:C:G	A272P	0.970
19:11421210:G:C	F531L	0.969
19:11421210:G:T	F531L	0.969
19:11421212:A:G	F531L	0.969
19:11426709:A:C	Y230D	0.969
19:11426259:A:G	L283P	0.967
19:11426463:C:G	A275P	0.960
19:11421747:A:G	L507P	0.958
19:11420895:C:A	K576N	0.957
19:11420895:C:G	K576N	0.957
19:11430948:A:G	L106P	0.954
19:11426764:G:C	N211K	0.953
19:11426764:G:T	N211K	0.953
19:11426709:A:G	Y230H	0.952
19:11426766:T:C	N211D	0.951
19:11422844:G:C	F378L	0.949

dbSNP variants (sampled 300 via entrez): RS1000134385 (19:11433037 G>A,T), RS1000584228 (19:11431205 G>A,C), RS1000660211 (19:11425883 T>G), RS1000818282 (19:11426824 C>G,T), RS1000957914 (19:11431513 G>A), RS1001072660 (19:11425460 T>C,G), RS1001140718 (19:11434346 C>T), RS1001201594 (19:11435854 G>A), RS1002286609 (19:11425132 T>C), RS1002317616 (19:11425073 A>C,G), RS1002480184 (19:11422875 A>G), RS1002846846 (19:11422696 C>T), RS1002956146 (19:11425559 A>G), RS1002988797 (19:11425465 A>G), RS1003043546 (19:11429407 TTTTA>T)

Disease associations

OMIM: gene MIM:615956 | disease phenotypes: MIM:616037, MIM:244400, MIM:174050

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 30	Strong	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 30	Definitive	AR

Mondo (4): primary ciliary dyskinesia 30 (MONDO:0014465), primary ciliary dyskinesia 1 (MONDO:0009484), polycystic liver disease 1 (MONDO:0008265), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (3): Primary ciliary dyskinesia (Orphanet:244), Isolated polycystic liver disease (Orphanet:2924), Primary ciliary dyskinesia, Kartagener type (Orphanet:98861)

HPO phenotypes

60 total (30 of 60 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
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:0001629	Ventricular septal defect
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:0002093	Respiratory insufficiency
HP:0002099	Asthma
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002205	Recurrent respiratory infections
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002878	Respiratory failure

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003563_11	Presence of antiphospholipid antibodies	3.000000e-06
GCST003563_12	Presence of antiphospholipid antibodies	4.000000e-06
GCST003563_6	Presence of antiphospholipid antibodies	5.000000e-08

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

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	7
trichostatin A	affects expression, increases expression	2
entinostat	increases expression, affects cotreatment	2
Smoke	decreases expression, increases abundance, increases expression	2
propionaldehyde	increases expression	1
decabromobiphenyl ether	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases methylation	1
Cisplatin	affects expression	1
Estradiol	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Sodium Selenite	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

87 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
NCT01157858	PHASE2	COMPLETED	Everolimus and LongActing Octreotide Trial in Polycystic Livers
NCT01670110	PHASE2	COMPLETED	Pasireotide LAR in Severe Polycystic Liver Disease
NCT02021110	PHASE2	COMPLETED	Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease
NCT05478083	PHASE2	RECRUITING	A GnRH Agonist IN Pre-menopausal Women STudy to Treat Severe Polycystic Liver Disease
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