RSPH4A

Summary

RSPH4A (radial spoke head component 4A, HGNC:21558) is a protein-coding gene on chromosome 6q22.1, encoding Radial spoke head protein 4 homolog A (Q5TD94). Component of the axonemal radial spoke head which plays an important role in ciliary motility.

This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin ‘stalk’ and a bulbous ‘head’ that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 345895 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 11 (Definitive, ClinGen) — +1 more curated relationship
• Clinical variants (ClinVar): 423 total — 38 pathogenic, 12 likely-pathogenic
• Phenotypes (HPO): 58
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_001010892

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21558
Approved symbol	RSPH4A
Name	radial spoke head component 4A
Location	6q22.1
Locus type	gene with protein product
Status	Approved
Aliases	dJ412I7.1, FLJ37974, RSPH6B, CILD11
Ensembl gene	ENSG00000111834
Ensembl biotype	protein_coding
OMIM	612647
Entrez	345895

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000229554, ENST00000368580, ENST00000368581

RefSeq mRNA: 2 — MANE Select: NM_001010892 NM_001010892, NM_001161664

CCDS: CCDS34521, CCDS55051

Canonical transcript exons

ENST00000229554 — 6 exons

Exon	Start	End
ENSE00000762662	116627629	116628369
ENSE00000762663	116629567	116629702
ENSE00001162169	116622768	116623002
ENSE00001406076	116616479	116617309
ENSE00001840050	116632207	116632985
ENSE00003593725	116630435	116630552

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 95.72.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6532 / max 95.0406, expressed in 171 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
69437	0.6532	171

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.72	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.46	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.81	gold quality
bronchial epithelial cell	CL:0002328	88.23	gold quality
bronchus	UBERON:0002185	86.94	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.50	gold quality
epithelium of nasopharynx	UBERON:0001951	84.08	gold quality
nasopharynx	UBERON:0001728	84.06	gold quality
oviduct epithelium	UBERON:0004804	82.43	gold quality
fallopian tube	UBERON:0003889	80.89	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.49	gold quality
adenohypophysis	UBERON:0002196	72.15	gold quality
nasal cavity mucosa	UBERON:0001826	70.88	gold quality
right lung	UBERON:0002167	70.05	gold quality
ventricular zone	UBERON:0003053	69.23	gold quality
pituitary gland	UBERON:0000007	69.05	gold quality
left uterine tube	UBERON:0001303	65.69	gold quality
cortical plate	UBERON:0005343	65.41	gold quality
mucosa of stomach	UBERON:0001199	65.14	gold quality
islet of Langerhans	UBERON:0000006	63.44	gold quality
hypothalamus	UBERON:0001898	62.74	gold quality
upper lobe of left lung	UBERON:0008952	61.99	gold quality
bone marrow cell	CL:0002092	61.95	gold quality
nasal cavity epithelium	UBERON:0005384	61.71	silver quality
upper lobe of lung	UBERON:0008948	61.52	gold quality
gastrocnemius	UBERON:0001388	61.37	gold quality
endocervix	UBERON:0000458	60.99	gold quality
caudate nucleus	UBERON:0001873	60.89	gold quality
muscle of leg	UBERON:0001383	60.87	gold quality
lung	UBERON:0002048	60.78	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	60.99
E-GEOD-130148	yes	13.15
E-ANND-3	yes	8.14
E-MTAB-9388	yes	7.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting RSPH4A, 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-6867-5P	100.00	82.21	3464
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-3658	99.96	73.87	4379
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-4666B	99.64	68.69	1282
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-141-5P	99.57	67.86	897
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954
HSA-MIR-520E-5P	99.27	68.90	1513
HSA-MIR-1911-3P	99.15	66.17	528
HSA-MIR-12135	98.99	70.26	1814

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 6)

• Mutations in RSPH4A leads to ultrastructural cilia defects and ciliary dyskinesia. (PMID:22448264)
• the c.921+3_6delAAGT splice site mutation in RSPH4A is a founder mutation that is a common cause of PCD without situs abnormalities in patients of Hispanic Puerto Rican descent. (PMID:23798057)
• Absence of RSPH4A due to mutations in RSPH4A results in deficient axonemal assembly of the RS head components RSPH1 and RSPH9. (PMID:25789548)
• A novel mutation causing primary ciliary dyskinesia was found in Japanese patients. (PMID:28939216)
• Structural insights into the cause of human RSPH4A primary ciliary dyskinesia. (PMID:33852348)
• The RSPH4A Gene in Primary Ciliary Dyskinesia. (PMID:36768259)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rsph4a	ENSDARG00000067606
mus_musculus	Rsph4a	ENSMUSG00000039552
rattus_norvegicus	Rsph4a	ENSRNOG00000049696
drosophila_melanogaster	Rsph4a	FBGN0034957

Paralogs (1): RSPH6A (ENSG00000104941)

Protein

Protein identifiers

Radial spoke head protein 4 homolog A — Q5TD94 (reviewed: Q5TD94)

Alternative names: Radial spoke head-like protein 3

All UniProt accessions (1): Q5TD94

UniProt curated annotations — full annotation on UniProt →

Function. Component of the axonemal radial spoke head which plays an important role in ciliary motility. Essential for triplet radial spokes (RS1, RS2 and RS3) head assembly in the motile cilia.

Subunit / interactions. Interacts with RSPH6A.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Cell projection. Cilium.

Tissue specificity. Expressed in trachea, lungs, and testes. Very strong expression is detected in nasal brushings.

Disease relevance. Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649] 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. 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.

Similarity. Belongs to the flagellar radial spoke RSP4/6 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5TD94-1	1	yes
Q5TD94-2	2
Q5TD94-3	3

RefSeq proteins (2): NP_001010892, NP_001155136 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006802	Radial_spoke	Family

Pfam: PF04712

UniProt features (24 total): compositionally biased region 8, sequence variant 7, region of interest 4, splice variant 3, chain 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-Q5TD94-F1	67.85	0.30

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): 396

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 184 (showing top): GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_REGULATION_OF_CILIUM_MOVEMENT, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, NOUZOVA_METHYLATED_IN_APL, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_CILIUM

GO Biological Process (9): cilium movement (GO:0003341), epithelial cilium movement involved in extracellular fluid movement (GO:0003351), axoneme assembly (GO:0035082), establishment of localization in cell (GO:0051649), cilium movement involved in cell motility (GO:0060294), radial spoke assembly (GO:0062177), maintenance of ciliary planar beating movement pattern (GO:0120221), cell projection organization (GO:0030030), cilium assembly (GO:0060271)

GO Molecular Function (0):

GO Cellular Component (13): radial spoke (GO:0001534), radial spoke head (GO:0001535), extracellular region (GO:0005576), axoneme (GO:0005930), motile cilium (GO:0031514), 9+2 motile cilium (GO:0097729), radial spoke head 1 (GO:0120336), radial spoke head 2 (GO:0120337), radial spoke head 3 (GO:0120338), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
radial spoke head	3
cilium movement	2
axoneme assembly	2
protein-containing complex	2
radial spoke	2
microtubule-based movement	1
extracellular transport	1
microtubule-based transport	1
microtubule bundle formation	1
cellular component assembly	1
cilium assembly	1
establishment of localization	1
cellular localization	1
cell motility	1
cilium-dependent cell motility	1
protein-containing complex assembly	1
regulation of cilium movement	1
cellular component organization	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
axoneme	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
cilium	1
motile cilium	1
inner dynein arm	1
outer dynein arm	1
axonemal central pair	1
axonemal doublet microtubule	1
radial spoke 1	1
radial spoke 2	1
radial spoke 3	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1631 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RSPH4A	RSPH9	Q9H1X1	995
RSPH4A	DNAH5	Q8TE73	955
RSPH4A	DNAI2	Q9GZS0	952
RSPH4A	DNAI1	Q9UI46	950
RSPH4A	DNAAF1	Q8NEP3	940
RSPH4A	RSPH1	Q8WYR4	933
RSPH4A	DNAAF2	Q9NVR5	933
RSPH4A	DNAH11	Q96DT5	922
RSPH4A	NME8	Q8N427	904
RSPH4A	CCDC40	Q4G0X9	830
RSPH4A	CCDC39	Q9UFE4	820
RSPH4A	DNAAF19	Q8IW40	807
RSPH4A	RSPH3	Q86UC2	792
RSPH4A	RPGR	Q92834	787
RSPH4A	ZMYND10	O75800	774

IntAct

4 interactions, top by confidence:

A	B	Type	Score
NEDD4	RSPH4A	psi-mi:“MI:0407”(direct interaction)	0.440
RSPH4A	C8A	psi-mi:“MI:0915”(physical association)	0.400
RSPH1	TSPY2	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): RSPH4A (Affinity Capture-MS), C8A (Affinity Capture-MS)

ESM2 similar proteins: A1L0Z6, A1SJF7, A9CB91, A9CB92, B6KG46, H9G301, O60071, O74521, O84512, O88828, P03520, P04603, P04880, P0CK49, P0CK50, P0CK62, P11823, P11824, P20435, P36595, P61217, P61218, P61219, Q01656, Q01657, Q11107, Q1E0W9, Q2NL37, Q2UKV7, Q4WXX5, Q54FA8, Q5B3I9, Q5R4R7, Q5R592, Q5TD94, Q6BER5, Q6CN69, Q6IQ63, Q6X1D7, Q7S1X9

Diamond homologs: A1L0Z6, Q01656, Q01657, Q5TD94, Q8BYM7, Q8CDR2, Q9H0K4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	38
Likely pathogenic	12
Uncertain significance	206
Likely benign	101
Benign	26

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069488	NM_001010892.3(RSPH4A):c.1558C>T (p.Arg520Ter)	Pathogenic
1070566	NM_001010892.3(RSPH4A):c.479del (p.Leu160fs)	Pathogenic
1073812	NM_001010892.3(RSPH4A):c.203dup (p.Thr69fs)	Pathogenic
1330295	NM_001010892.3(RSPH4A):c.1631G>A (p.Trp544Ter)	Pathogenic
1430853	NM_001010892.3(RSPH4A):c.1407del (p.Ile470fs)	Pathogenic
1451767	NM_001010892.3(RSPH4A):c.1732_1733del (p.Asp578fs)	Pathogenic
1745842	NM_001010892.3(RSPH4A):c.517C>T (p.Gln173Ter)	Pathogenic
2054972	NM_001010892.3(RSPH4A):c.1261G>T (p.Glu421Ter)	Pathogenic
2417260	NM_001010892.3(RSPH4A):c.462_469del (p.Gln155fs)	Pathogenic
2803777	NM_001010892.3(RSPH4A):c.1821G>A (p.Trp607Ter)	Pathogenic
2860326	NM_001010892.3(RSPH4A):c.1932_1935del (p.Phe644fs)	Pathogenic
2954703	NM_001010892.3(RSPH4A):c.1852C>T (p.Gln618Ter)	Pathogenic
2991948	NM_001010892.3(RSPH4A):c.1873C>T (p.Gln625Ter)	Pathogenic
3600353	NM_001010892.3(RSPH4A):c.160C>T (p.Gln54Ter)	Pathogenic
3724525	NM_001010892.3(RSPH4A):c.1323G>A (p.Trp441Ter)	Pathogenic
3771740	NM_001010892.3(RSPH4A):c.347_348del (p.Val116fs)	Pathogenic
409228	NM_001010892.3(RSPH4A):c.1068G>A (p.Trp356Ter)	Pathogenic
4537496	NM_001010892.3(RSPH4A):c.1963_1966del (p.Asp655fs)	Pathogenic
454520	NM_001010892.3(RSPH4A):c.1351C>T (p.Gln451Ter)	Pathogenic
454521	NM_001010892.3(RSPH4A):c.1453C>T (p.Arg485Ter)	Pathogenic
454522	NM_001010892.3(RSPH4A):c.1707del (p.Glu570fs)	Pathogenic
4721068	NM_001010892.3(RSPH4A):c.1247del (p.Ala416fs)	Pathogenic
4743099	NM_001010892.3(RSPH4A):c.1917-3_1917del	Pathogenic
4768951	NM_001010892.3(RSPH4A):c.843T>G (p.Tyr281Ter)	Pathogenic
4819014	NM_001010892.3(RSPH4A):c.844G>T (p.Glu282Ter)	Pathogenic
503	NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter)	Pathogenic
504	NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter)	Pathogenic
525252	NM_001010892.3(RSPH4A):c.690T>G (p.Tyr230Ter)	Pathogenic
525269	NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter)	Pathogenic
525311	NM_001010892.3(RSPH4A):c.11C>G (p.Ser4Ter)	Pathogenic

SpliceAI

1109 predictions. Top by Δscore:

Variant	Effect	Δscore
6:116617307:TCT:T	donor_gain	1.0000
6:116617308:CT:C	donor_gain	1.0000
6:116617310:G:GG	donor_gain	1.0000
6:116623003:G:GG	donor_gain	1.0000
6:116629660:G:GT	donor_gain	1.0000
6:116629660:G:T	donor_gain	1.0000
6:116629696:GATT:G	donor_gain	1.0000
6:116630425:T:TA	acceptor_gain	1.0000
6:116630426:G:A	acceptor_gain	1.0000
6:116630433:A:AG	acceptor_gain	1.0000
6:116630434:G:GG	acceptor_gain	1.0000
6:116630434:GA:G	acceptor_gain	1.0000
6:116630549:GCAA:G	donor_gain	1.0000
6:116630550:CAA:C	donor_gain	1.0000
6:116630551:AA:A	donor_gain	1.0000
6:116630552:AG:A	donor_loss	1.0000
6:116630553:G:GG	donor_gain	1.0000
6:116630553:GTAA:G	donor_loss	1.0000
6:116630554:T:A	donor_loss	1.0000
6:116632199:A:AG	acceptor_gain	1.0000
6:116632205:A:AG	acceptor_gain	1.0000
6:116632206:G:GG	acceptor_gain	1.0000
6:116632206:GA:G	acceptor_gain	1.0000
6:116632206:GAA:G	acceptor_gain	1.0000
6:116632206:GAAA:G	acceptor_gain	1.0000
6:116617264:C:G	donor_gain	0.9900
6:116617305:AATCT:A	donor_gain	0.9900
6:116617306:ATCT:A	donor_gain	0.9900
6:116617307:TCTG:T	donor_loss	0.9900
6:116617309:TGTAA:T	donor_loss	0.9900

AlphaMissense

4730 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:116628028:T:A	W441R	0.997
6:116628028:T:C	W441R	0.997
6:116628337:T:A	W544R	0.996
6:116628337:T:C	W544R	0.996
6:116627729:T:C	L341P	0.995
6:116628005:T:A	V433D	0.995
6:116627738:T:C	L344P	0.993
6:116627813:C:A	A369D	0.993
6:116628199:A:C	S498R	0.993
6:116628201:T:A	S498R	0.993
6:116628201:T:G	S498R	0.993
6:116627725:G:C	A340P	0.992
6:116630455:T:A	W607R	0.992
6:116630455:T:C	W607R	0.992
6:116630521:T:A	W629R	0.992
6:116630521:T:C	W629R	0.992
6:116622779:T:C	L233P	0.991
6:116628176:G:C	R490P	0.991
6:116628161:G:C	R485P	0.990
6:116622847:A:C	S256R	0.989
6:116622849:C:A	S256R	0.989
6:116622849:C:G	S256R	0.989
6:116627773:T:A	W356R	0.989
6:116627773:T:C	W356R	0.989
6:116628339:G:C	W544C	0.988
6:116628339:G:T	W544C	0.988
6:116627812:G:C	A369P	0.987
6:116617276:T:C	L218P	0.986
6:116628030:G:C	W441C	0.985
6:116628030:G:T	W441C	0.985

dbSNP variants (sampled 300 via entrez): RS1000086257 (6:116622805 A>C), RS1000312147 (6:116627310 C>A), RS1000533726 (6:116619426 T>G), RS1000584643 (6:116619109 A>G), RS1000652971 (6:116615454 C>A,T), RS1000756309 (6:116625714 A>G), RS1001352437 (6:116632603 T>A,C), RS1001478813 (6:116626488 C>A), RS1001593884 (6:116626268 G>C), RS1001601601 (6:116620017 C>G,T), RS1002856407 (6:116633037 A>G), RS1003134527 (6:116627583 C>T), RS1003361403 (6:116621201 G>A,T), RS1003414990 (6:116627943 G>A), RS1003821550 (6:116620891 C>T)

Disease associations

OMIM: gene MIM:612647 | disease phenotypes: MIM:244400, MIM:612649, MIM:612650

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 11	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 11	Definitive	AR

Mondo (4): primary ciliary dyskinesia (MONDO:0016575), primary ciliary dyskinesia 11 (MONDO:0012978), primary ciliary dyskinesia 12 (MONDO:0012979), primary ciliary dyskinesia 1 (MONDO:0009484)

Orphanet (2): Primary ciliary dyskinesia (Orphanet:244), Primary ciliary dyskinesia, Kartagener type (Orphanet:98861)

HPO phenotypes

58 total (30 of 58 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:0001669	Transposition of the great arteries
HP:0001696	Situs inversus totalis
HP:0001719	Double outlet right ventricle
HP:0001742	Nasal congestion
HP:0001746	Asplenia
HP:0001748	Polysplenia
HP:0002011	Morphological central nervous system abnormality
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002205	Recurrent respiratory infections
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0003546	Exercise intolerance
HP:0004322	Short stature
HP:0004469	Chronic bronchitis

GWAS associations

0 associations (top):

MeSH disease descriptors (4)

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
C567212	Ciliary Dyskinesia, Primary, 11 (supp.)
C567211	Ciliary Dyskinesia, Primary, 12 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	increases expression, decreases expression, increases abundance	2
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	increases expression	2
aristolochic acid I	increases expression	1
propionaldehyde	increases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
CGP 52608	affects binding, increases reaction	1
Air Pollutants	increases abundance, increases expression	1
Methotrexate	decreases expression	1
Niclosamide	decreases expression	1
Rotenone	decreases expression	1
Silicon Dioxide	decreases expression	1
Cadmium Chloride	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)