CFAP47

Summary

CFAP47 (cilia and flagella associated protein 47, HGNC:26708) is a protein-coding gene on chromosome Xp21.1, encoding Cilia- and flagella-associated protein 47 (Q6ZTR5). Plays a role in flagellar formation and sperm motility.

While this gene is well-supported by transcript data, no functional information on its protein product is currently available.

Source: NCBI Gene 286464 — RefSeq curated summary.

At a glance

• Gene–disease (curated): spermatogenic failure, X-linked, 3 (Limited, ClinGen) — +1 more curated relationship
• Clinical variants (ClinVar): 173 total — 6 pathogenic
• Phenotypes (HPO): 8
• MANE Select transcript: NM_001304548

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26708
Approved symbol	CFAP47
Name	cilia and flagella associated protein 47
Location	Xp21.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36601, RP13-11B7.1, MGC34831
Ensembl gene	ENSG00000165164
Ensembl biotype	protein_coding
OMIM	301057
Entrez	286464

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000297866, ENST00000313548, ENST00000378653, ENST00000378660, ENST00000446478, ENST00000493930, ENST00000630521

RefSeq mRNA: 2 — MANE Select: NM_001304548 NM_001304548, NM_152632

CCDS: CCDS14237, CCDS83464

Canonical transcript exons

ENST00000378653 — 64 exons

Exon	Start	End
ENSE00001090883	35948314	35948452
ENSE00001090884	35919734	35920048
ENSE00001090885	35926017	35926168
ENSE00001090886	35941283	35941398
ENSE00001215844	35971869	35971965
ENSE00001216263	35966565	35966754
ENSE00001216268	35971586	35971772
ENSE00001216275	35970768	35970923
ENSE00001216279	35967619	35967832
ENSE00001216289	35955961	35956196
ENSE00001216295	35953592	35953719
ENSE00001216302	35951803	35951963
ENSE00001216310	35951131	35951359
ENSE00001424491	35975147	35975363
ENSE00001478249	36384797	36385317
ENSE00001478251	36379350	36379518
ENSE00001478254	36361330	36361501
ENSE00001478255	36353529	36353681
ENSE00001478256	36350038	36350132
ENSE00001478265	36228628	36228824
ENSE00001595696	36138348	36138464
ENSE00001598789	36099751	36099879
ENSE00001613277	36319209	36319307
ENSE00001615885	36104499	36104691
ENSE00001633931	36306772	36306876
ENSE00001644392	36348129	36348288
ENSE00001651696	36137958	36138055
ENSE00001659614	36098793	36098874
ENSE00001693349	36073139	36073364
ENSE00001723777	36071825	36071971
ENSE00001727373	36298977	36299152
ENSE00001737107	36301072	36301179
ENSE00001741309	36310833	36310989
ENSE00001760908	36303849	36303960
ENSE00001765464	36085314	36085538
ENSE00003522940	36285629	36285726
ENSE00003532955	35975672	35975913
ENSE00003536404	36236686	36236859
ENSE00003653519	36235934	36236077
ENSE00003671918	36280487	36280630
ENSE00003672593	36251333	36251444
ENSE00003705525	36366966	36367127
ENSE00003760691	36188620	36188690
ENSE00003761026	36149108	36149223
ENSE00003761081	36201274	36201500
ENSE00003761527	36145219	36145353
ENSE00003762637	35993190	35993321
ENSE00003763239	36014774	36014912
ENSE00003763531	36204957	36205110
ENSE00003764570	36159426	36159576
ENSE00003764588	35989319	35989449
ENSE00003765608	36200379	36200493
ENSE00003769083	36000283	36000427
ENSE00003769761	36179345	36179422
ENSE00003770526	36001613	36001707
ENSE00003771099	36065643	36065743
ENSE00003772445	36038984	36039179
ENSE00003773222	35991821	35991943
ENSE00003773986	36190051	36190196
ENSE00003774354	36046854	36047063
ENSE00003774400	35997312	35997389
ENSE00003774518	36160681	36160769
ENSE00003778635	36031253	36031347
ENSE00003779982	36035695	36035854

Expression profiles

Bgee: expression breadth broad, 95 present calls, max score 92.44.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6298 / max 67.7533, expressed in 178 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
195886	0.4005	138
195885	0.2294	106

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	92.44	gold quality
bronchus	UBERON:0002185	90.56	gold quality
oviduct epithelium	UBERON:0004804	89.60	gold quality
right uterine tube	UBERON:0001302	88.57	gold quality
buccal mucosa cell	CL:0002336	87.57	gold quality
mucosa of paranasal sinus	UBERON:0005030	80.37	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.54	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	78.37	gold quality
fallopian tube	UBERON:0003889	74.18	gold quality
epithelium of nasopharynx	UBERON:0001951	73.33	silver quality
nasopharynx	UBERON:0001728	73.32	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	71.87	gold quality
secondary oocyte	CL:0000655	70.27	gold quality
ventricular zone	UBERON:0003053	68.43	gold quality
pituitary gland	UBERON:0000007	66.97	gold quality
adenohypophysis	UBERON:0002196	66.94	gold quality
nasal cavity mucosa	UBERON:0001826	61.85	gold quality
caput epididymis	UBERON:0004358	59.91	gold quality
oocyte	CL:0000023	58.56	silver quality
nasal cavity epithelium	UBERON:0005384	58.17	gold quality
corpus callosum	UBERON:0002336	57.44	gold quality
nucleus accumbens	UBERON:0001882	56.29	gold quality
vena cava	UBERON:0004087	55.62	gold quality
skin of hip	UBERON:0001554	55.49	silver quality
right lung	UBERON:0002167	55.21	gold quality
hypothalamus	UBERON:0001898	55.07	gold quality
ganglionic eminence	UBERON:0004023	54.94	gold quality
lower lobe of lung	UBERON:0008949	54.92	silver quality
sperm	CL:0000019	54.45	gold quality
caudate nucleus	UBERON:0001873	54.40	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.50

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting CFAP47, 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-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-4325	99.49	72.20	1342
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-3168	99.08	67.75	1384
HSA-MIR-6830-5P	99.01	68.73	1884
HSA-MIR-6074	98.89	69.64	2187
HSA-MIR-6755-3P	98.61	66.90	834
HSA-MIR-4773	98.35	67.30	1710
HSA-MIR-4786-5P	97.45	67.89	924
HSA-MIR-6750-3P	96.79	67.50	740
HSA-MIR-4793-3P	94.87	65.85	896
HSA-MIR-769-5P	94.45	64.56	603

Literature-anchored findings (GeneRIF, showing 4)

• Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. (PMID:33472045)
• WDR87 interacts with CFAP47 protein in the middle piece of spermatozoa flagella to participate in sperm tail assembly. (PMID:36571501)
• A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella. (PMID:37424856)
• Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD. (PMID:37723893)

Cross-species orthologs

0 orthologs

Paralogs (2): DLEC1 (ENSG00000008226), HYDIN (ENSG00000157423)

Protein

Protein identifiers

Cilia- and flagella-associated protein 47 — Q6ZTR5 (reviewed: Q6ZTR5)

All UniProt accessions (3): A0A0D9SEI5, A0A182DWE8, Q6ZTR5

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in flagellar formation and sperm motility.

Subunit / interactions. Interacts with CFAP65.

Subcellular location. Cytoplasm. Cytoskeleton. Flagellum basal body.

Tissue specificity. Highly expressed in spermatzoa (at protein level).

Disease relevance. Spermatogenic failure, X-linked, 3 (SPGFX3) [MIM:301059] An infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities, including absent, short, coiled, and irregular-caliber flagella. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6ZTR5-5	5	yes
Q6ZTR5-1	1
Q6ZTR5-2	2
Q6ZTR5-6	6

RefSeq proteins (2): NP_001291477, NP_689845 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001715	CH_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036872	CH_dom_sf	Homologous_superfamily
IPR056343	CFAP47_dom	Domain
IPR058952	Ig_CFAP47	Domain

Pfam: PF24529, PF26579

UniProt features (20 total): sequence variant 8, splice variant 6, sequence conflict 2, chain 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q6ZTR5 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (2): sperm axoneme assembly (GO:0007288), cilium assembly (GO:0060271)

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

GO Cellular Component (7): cilium (GO:0005929), sperm head-tail coupling apparatus (GO:0120212), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
axoneme assembly	2
developmental process involved in reproduction	1
sperm flagellum assembly	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
binding	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
cilium	1

Protein interactions and networks

STRING

1242 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP47	CFAP43	Q8NDM7	612
CFAP47	TTC29	Q8NA56	612
CFAP47	CFAP70	Q5T0N1	573
CFAP47	CFAP65	Q6ZU64	570
CFAP47	LRRC43	Q8N309	566
CFAP47	CFAP44	Q96MT7	545
CFAP47	FAM47B	Q8NA70	524
CFAP47	DNAH1	Q9P2D7	524
CFAP47	CFAP99	D6REC4	520
CFAP47	CFAP251	Q8TBY9	519
CFAP47	CFAP141	Q5VU69	506
CFAP47	CFAP69	A5D8W1	505
CFAP47	TTC21A	Q8NDW8	499
CFAP47	FAM181A	Q8N9Y4	485
CFAP47	CFAP91	Q7Z4T9	485

IntAct

7 interactions, top by confidence:

A	B	Type	Score
CFAP47	UBB	psi-mi:“MI:0914”(association)	0.560
CFAP47	UBB	psi-mi:“MI:0915”(physical association)	0.560
CFAP47	RPL35	psi-mi:“MI:0915”(physical association)	0.400
CFAP47	CFTR	psi-mi:“MI:0915”(physical association)	0.370
ESR1	TUBAL3	psi-mi:“MI:0914”(association)	0.350
ESR2	PSMD11	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): CXorf22 (Affinity Capture-MS), CXorf22 (Proximity Label-MS), CXorf22 (Affinity Capture-MS), CXorf22 (PCA), CXorf22 (Cross-Linking-MS (XL-MS)), CXorf22 (Cross-Linking-MS (XL-MS)), RPL35 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0G2JEB6, A0JM56, B0DOB4, B0FXQ5, B1ANS9, B4F7L9, B4GQJ7, B5DHW4, B7FF06, B7FF07, B7FF08, B7FF09, B7FF12, C5IAW9, F1LW30, F1P4W9, O08747, O95185, P0DM40, Q008S8, Q18264, Q32NR9, Q3V0B4, Q402B2, Q4G0P3, Q5R4M2, Q5T0N1, Q5XI14, Q6AXU1, Q6DCF6, Q6NRS1, Q6P2C0, Q6P5D8, Q6UXZ4, Q6ZTR5, Q6ZU64, Q761X5, Q7T2Z5, Q80W93, Q86YR7

Diamond homologs: A0A0G2JEB6, Q6ZTR5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	0
Uncertain significance	29
Likely benign	29
Benign	0

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
1808493	GRCh37/hg19 Xp21.1(chrX:32419533-37487291)x1	Pathogenic
3062483	GRCh37/hg19 Xp21.1-11.4(chrX:33027159-39840641)	Pathogenic
3235121	Single allele	Pathogenic
59258	GRCh38/hg38 Xp21.1-11.4(chrX:31665506-37921988)x0	Pathogenic
975141	Single allele	Pathogenic
996916	NM_001304548.2(CFAP47):c.7154T>A (p.Ile2385Asn)	Pathogenic

SpliceAI

2748 predictions. Top by Δscore:

Variant	Effect	Δscore
X:35920044:CACAG:C	donor_loss	1.0000
X:35920045:ACAG:A	donor_loss	1.0000
X:35920046:CAG:C	donor_loss	1.0000
X:35920047:AGGT:A	donor_loss	1.0000
X:35920048:GGT:G	donor_loss	1.0000
X:35920049:G:A	donor_loss	1.0000
X:35926010:A:AG	acceptor_gain	1.0000
X:35926012:T:A	acceptor_gain	1.0000
X:35926015:A:AG	acceptor_gain	1.0000
X:35926016:G:GG	acceptor_gain	1.0000
X:35951934:GACT:G	donor_gain	1.0000
X:35951964:G:GG	donor_gain	1.0000
X:35953586:TTACA:T	acceptor_loss	1.0000
X:35953587:TACA:T	acceptor_loss	1.0000
X:35953588:A:AG	acceptor_gain	1.0000
X:35953588:ACAG:A	acceptor_gain	1.0000
X:35953589:C:G	acceptor_gain	1.0000
X:35953589:CAGGC:C	acceptor_loss	1.0000
X:35953590:A:AG	acceptor_gain	1.0000
X:35953590:AG:A	acceptor_gain	1.0000
X:35953591:G:GC	acceptor_gain	1.0000
X:35953591:GG:G	acceptor_gain	1.0000
X:35953591:GGC:G	acceptor_gain	1.0000
X:35953591:GGCT:G	acceptor_gain	1.0000
X:35953591:GGCTA:G	acceptor_gain	1.0000
X:35953672:G:GT	donor_gain	1.0000
X:35953715:CAAAA:C	donor_gain	1.0000
X:35953716:AAAA:A	donor_gain	1.0000
X:35953716:AAAAG:A	donor_loss	1.0000
X:35953717:AAA:A	donor_gain	1.0000

AlphaMissense

21156 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:35951318:T:A	W282R	0.995
X:35951318:T:C	W282R	0.995
X:36228661:T:C	F2284S	0.994
X:36099850:T:A	W1700R	0.993
X:36099850:T:C	W1700R	0.993
X:35926017:T:C	F84L	0.992
X:35926019:C:A	F84L	0.992
X:35926019:C:G	F84L	0.992
X:35975859:T:A	W887R	0.992
X:35975859:T:C	W887R	0.992
X:36149180:T:C	F1915L	0.992
X:36149182:C:A	F1915L	0.992
X:36149182:C:G	F1915L	0.992
X:36201424:G:C	R2196P	0.992
X:35919944:T:C	F49L	0.991
X:35919945:T:C	F49S	0.991
X:35919946:C:A	F49L	0.991
X:35919946:C:G	F49L	0.991
X:35926018:T:C	F84S	0.991
X:35926086:T:G	Y107D	0.991
X:36228724:G:C	R2305P	0.991
X:36301080:T:C	F2624S	0.991
X:35951296:T:A	N274K	0.990
X:35951296:T:G	N274K	0.990
X:36201428:G:C	R2197S	0.990
X:36201428:G:T	R2197S	0.990
X:36379400:T:C	F3079S	0.990
X:36159481:G:C	A1948P	0.989
X:36190077:T:C	F2068L	0.989
X:36190079:C:A	F2068L	0.989

dbSNP variants (sampled 300 via entrez): RS1000002870 (X:36222471 A>C), RS1000008288 (X:36169456 A>G), RS1000009577 (X:35973703 A>C,G), RS1000030327 (X:35940221 A>G), RS1000043210 (X:35986687 A>C,G), RS1000060710 (X:35926775 A>G), RS1000067172 (X:35923550 A>G), RS1000078553 (X:36006588 T>C,G), RS1000079907 (X:35956261 C>A,T), RS1000094150 (X:36297644 T>C), RS1000121806 (X:36110164 G>A), RS1000131156 (X:36050338 G>A), RS1000141245 (X:36361124 A>G), RS1000165795 (X:36361974 G>A), RS1000178193 (X:36275473 T>A)

Disease associations

OMIM: gene MIM:301057 | disease phenotypes: MIM:301059, MIM:300842, MIM:300029

GenCC curated gene-disease

Disease	Classification	Inheritance
spermatogenic failure, X-linked, 3	Limited	X-linked
polycystic kidney disease	Limited	X-linked

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
spermatogenic failure, X-linked, 3	Limited	XL
polycystic kidney disease	Disputed	XL

Mondo (4): spermatogenic failure, X-linked, 3 (MONDO:0025354), XK-related neurodegenerative disease (MONDO:0018945), retinitis pigmentosa 3 (MONDO:0010227), polycystic kidney disease (MONDO:0020642)

Orphanet (2): McLeod neuroacanthocytosis syndrome (Orphanet:59306), Retinitis pigmentosa (Orphanet:791)

HPO phenotypes

8 total (8 of 8 shown, HPO-id order):

HPO	Term
HP:0000798	Oligozoospermia
HP:0001419	X-linked recessive inheritance
HP:0003251	Male infertility
HP:0012207	Reduced sperm motility
HP:0032558	Absent sperm flagella
HP:0032559	Short sperm flagella
HP:0032560	Coiled sperm flagella
HP:0033393	Irregularly shaped sperm tail

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D007690	Polycystic Kidney Diseases	C12.050.351.968.419.403.875; C12.200.777.419.403.875; C12.950.419.403.875; C16.131.077.717; C16.320.184.625
C564038	Neuroacanthocytosis, Mcleod Type (supp.)
C564520	Retinitis Pigmentosa 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Catechin	decreases expression, affects cotreatment	1
Lead	decreases expression	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

25 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02140814	PHASE2	COMPLETED	Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease
NCT02558595	PHASE2	COMPLETED	Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2)
NCT02697617	PHASE2	COMPLETED	Use of Low Dose Pioglitazone to Treat Autosomal Dominant Polycystic Kidney Disease
NCT02166489	PHASE1	COMPLETED	Mesenchymal Stem Cells Transplantation in Patients With Chronic Renal Failure Due to Polycystic Kidney Disease
NCT01009957	PHASE2/PHASE3	TERMINATED	Everolimus on CKD Progression in ADPKD Patients
NCT01680250	PHASE2/PHASE3	UNKNOWN	Sirolimus for Massive Polycystic Liver
NCT00286156	PHASE1/PHASE2	COMPLETED	Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT03423810	EARLY_PHASE1	COMPLETED	Assessing a Dose-Response Relationship of Hydralazine and Its Effects on DNA Methyltransferase 1 in Polycystic Kidney Disease Patients
NCT00792155	Not specified	RECRUITING	Polycystic Kidney Disease Data Repository
NCT01873235	Not specified	RECRUITING	PKD Clinical and Translational Core Study
NCT01931644	Not specified	COMPLETED	At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions
NCT02142101	Not specified	COMPLETED	Evaluation of Gut Bacteria in Patients With Polycystic Kidney Disease
NCT02739750	Not specified	COMPLETED	Pioglitazone and Lumbar Bone Marrow Fat in Chronic Kidney Disease
NCT02936791	Not specified	RECRUITING	Early PKD Observational Cohort Study
NCT03726463	Not specified	UNKNOWN	Evaluation of Iliac and Renal Artery for Mechanism of Intracranial Aneurysm in ADPKD
NCT03889392	Not specified	COMPLETED	Evaluation of Nephrectomy Specimen for Intracranial Aneurysm Development in ADPKD
NCT03948113	Not specified	COMPLETED	Outcome of Autosomal Dominant Polycystic Kidney Disease Patients on Peritoneal Dialysis: a National Retrospective Study Based on Two French Registries (the French Language Peritoneal Dialysis Registry and the French Renal Epidemiology and Information Network).
NCT04039061	Not specified	RECRUITING	ADPKD Patient Registry
NCT05215964	Not specified	UNKNOWN	The Association Between Skeletal Muscle Mass and Severity of Polycystic Liver Disease and Polycystic Kidney Disease
NCT06036992	Not specified	ACTIVE_NOT_RECRUITING	Study and Management of Cystic Complications in Autosomal Dominant Polycystic Kidney Disease
NCT06325644	Not specified	RECRUITING	Well-Formulated Ketogenic Diet Polycystic Kidney Disease
NCT06728228	Not specified	RECRUITING	Amnioinfusion for Fetal Renal Failure
NCT06841224	Not specified	ENROLLING_BY_INVITATION	The Factors Affecting IPP in Peritoneal Dialysis Patients with Polycystic Kidney Disease
NCT06867471	Not specified	RECRUITING	Effects of Exogenous Ketosis on Proteinuria and Renal Function
NCT07310641	Not specified	COMPLETED	Descriptive Analysis of Preimplantation Genetic Test (PGT)in Couples With Polycystic Kidney Disease (PKD). In the ADPKD Subgroup Evaluation of Outcomes and Complications Comparing Couples in Which the Father is Affected With Couples in Which the Mother is Affected