IGSF3

Summary

IGSF3 (immunoglobulin superfamily member 3, HGNC:5950) is a protein-coding gene on chromosome 1p13.1, encoding Immunoglobulin superfamily member 3 (O75054).

The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD).

Source: NCBI Gene 3321 — RefSeq curated summary.

At a glance

• Gene–disease (curated): familial congenital nasolacrimal duct obstruction (Supportive, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 216 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 8
• MANE Select transcript: NM_001007237

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5950
Approved symbol	IGSF3
Name	immunoglobulin superfamily member 3
Location	1p13.1
Locus type	gene with protein product
Status	Approved
Aliases	V8, EWI-3, MGC117164
Ensembl gene	ENSG00000143061
Ensembl biotype	protein_coding
OMIM	603491
Entrez	3321

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000318837, ENST00000369483, ENST00000369486, ENST00000481589, ENST00000897088, ENST00000897089, ENST00000897090

RefSeq mRNA: 2 — MANE Select: NM_001007237 NM_001007237, NM_001542

CCDS: CCDS30813, CCDS30814

Canonical transcript exons

ENST00000369486 — 11 exons

Exon	Start	End
ENSE00000957893	116607942	116608331
ENSE00000957897	116584645	116585052
ENSE00000957898	116579392	116579877
ENSE00001141822	116616080	116616457
ENSE00001377727	116574408	116577562
ENSE00001421221	116666284	116666956
ENSE00001684018	116603624	116604025
ENSE00001705441	116613765	116614175
ENSE00001750577	116588694	116589104
ENSE00001760323	116599941	116600345
ENSE00001842317	116667618	116667733

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 97.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.7844 / max 150.7168, expressed in 1015 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14017	5.9751	1004
201630	0.4093	273
14016	0.3999	219

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	97.66	gold quality
tongue squamous epithelium	UBERON:0006919	97.56	gold quality
gingival epithelium	UBERON:0001949	97.45	gold quality
gingiva	UBERON:0001828	96.93	gold quality
tibia	UBERON:0000979	96.62	gold quality
squamous epithelium	UBERON:0006914	95.60	gold quality
esophagus squamous epithelium	UBERON:0006920	95.24	gold quality
ganglionic eminence	UBERON:0004023	95.12	gold quality
epithelium of esophagus	UBERON:0001976	94.68	gold quality
embryo	UBERON:0000922	94.43	gold quality
mammalian vulva	UBERON:0000997	93.25	gold quality
hair follicle	UBERON:0002073	93.21	gold quality
cervix squamous epithelium	UBERON:0006922	92.98	gold quality
middle temporal gyrus	UBERON:0002771	90.99	gold quality
placenta	UBERON:0001987	90.68	gold quality
ventricular zone	UBERON:0003053	90.62	gold quality
oral cavity	UBERON:0000167	90.56	gold quality
renal medulla	UBERON:0000362	89.90	gold quality
cartilage tissue	UBERON:0002418	89.86	gold quality
upper arm skin	UBERON:0004263	89.81	gold quality
ileal mucosa	UBERON:0000331	88.83	gold quality
Brodmann (1909) area 23	UBERON:0013554	88.58	gold quality
heart right ventricle	UBERON:0002080	88.45	gold quality
nephron tubule	UBERON:0001231	88.23	gold quality
cervix epithelium	UBERON:0004801	88.09	gold quality
pancreatic ductal cell	CL:0002079	87.77	gold quality
jejunal mucosa	UBERON:0000399	87.33	gold quality
skin of hip	UBERON:0001554	87.20	gold quality
esophagus mucosa	UBERON:0002469	86.81	gold quality
upper leg skin	UBERON:0004262	86.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.02
E-CURD-135	no	396.85

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXP3

miRNA regulators (miRDB)

165 targeting IGSF3, 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-6740-5P	100.00	65.64	932
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-493-5P	99.96	72.47	2382

Literature-anchored findings (GeneRIF, showing 3)

• Based on IGSF3 mutation in a family with congenital nasolacrimal duct obstruction we conclude that the disruption of IGSF3 is the very likely cause of autosomal recessive nasolacrimal duct obstruction. (PMID:24372406)
• the IGSF23 mutation led to decreased c-Fos and NFATC1 expression levels by inhibiting the mitogen-activated protein kinase signalling pathways (PMID:31560140)
• IGSF3 mutation identified in patient with severe COPD alters cell function and motility. (PMID:32573489)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	igsf3	ENSDARG00000077002
mus_musculus	Igsf3	ENSMUSG00000042035
rattus_norvegicus	Igsf3	ENSRNOG00000023851

Paralogs (5): PTGFRN (ENSG00000134247), CD101 (ENSG00000134256), IGSF8 (ENSG00000162729), VSTM4 (ENSG00000165633), VSTM2A (ENSG00000170419)

Protein

Protein identifiers

Immunoglobulin superfamily member 3 — O75054 (reviewed: O75054)

Alternative names: Glu-Trp-Ile EWI motif-containing protein 3

All UniProt accessions (1): O75054

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Expressed in a wide range of tissues with High expression in Placenta, kidney and lung.

Disease relevance. Lacrimal duct defect (LCDD) [MIM:149700] A condition resulting in the imbalance between tear production and tear drainage. Infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway, such as conjunctivitis. LCDD is caused by failure of the nasolacrimal duct to open into the inferior meatus. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Likely interchromosomal Alu-mediated fusion between IGSF3 on 1p13.1 and GGT on 22q11.2. Breakpoints occurred inside Alu elements as well as in the 5’ or 3’ ends of them.

Isoforms (2)

UniProt ID	Names	Canonical?
O75054-1	1	yes
O75054-2	2

RefSeq proteins (2): NP_001007238, NP_001533 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR051102	IgSF_V-set/TM_domain	Family

Pfam: PF07686

UniProt features (36 total): domain 8, disulfide bond 8, glycosylation site 5, sequence variant 3, sequence conflict 3, topological domain 2, signal peptide 1, chain 1, region of interest 1, short sequence motif 1, compositionally biased region 1, splice variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75054-F1	81.81	0.35

Functional residue map

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

Disulfide bonds (8): 42–120, 167–246, 302–376, 432–511, 566–645, 701–782, 838–918, 974–1080

Glycosylation sites (5): 43, 418, 655, 842, 1077

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 199 (showing top): MODULE_52, WANG_CLIM2_TARGETS_UP, MYOGENIN_Q6, KAAB_FAILED_HEART_ATRIUM_DN, GOCC_CELL_SURFACE, BROWNE_HCMV_INFECTION_16HR_UP, GGGTGGRR_PAX4_03, MODULE_118, RICKMAN_METASTASIS_DN, GOBP_EXOCRINE_SYSTEM_DEVELOPMENT, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, LIAO_METASTASIS, TGANTCA_AP1_C, TGACATY_UNKNOWN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN

GO Biological Process (1): lacrimal gland development (GO:0032808)

GO Molecular Function (0):

GO Cellular Component (2): cell surface (GO:0009986), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
exocrine system development	1
gland development	1

Protein interactions and networks

STRING

1072 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IGSF3	CD9	P21926	630
IGSF3	CD81	P18582	595
IGSF3	ERVFRD-1	P60508	558
IGSF3	ERV3-1	Q14264	558
IGSF3	TSPAN7	P41732	524
IGSF3	GDAP2	Q9NXN4	461
IGSF3	ERVW-1	Q9UQF0	438
IGSF3	TTC12	Q9H892	424
IGSF3	WDR3	Q9UNX4	421
IGSF3	CROCC	Q5TZA2	415
IGSF3	IGSF22	Q8N9C0	404
IGSF3	MRFAP1L2	B2RBV5	399
IGSF3	APMAP	Q9HDC9	394
IGSF3	ZNF717	Q9BY31	394
IGSF3	PARP4	Q9UKK3	389

IntAct

69 interactions, top by confidence:

A	B	Type	Score
TSPAN15	ADAM10	psi-mi:“MI:0914”(association)	0.840
TSPAN5	ADAM10	psi-mi:“MI:0914”(association)	0.800
CD9	ADAM10	psi-mi:“MI:0914”(association)	0.750
TSPAN14	ADAM10	psi-mi:“MI:0914”(association)	0.740
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
FBXO6	MAN2B1	psi-mi:“MI:0914”(association)	0.640
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
PICK1	ILVBL	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
DEFA1	MANBA	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
CDR2	IGSF3	psi-mi:“MI:0914”(association)	0.530
LGALS1	LAMA5	psi-mi:“MI:0914”(association)	0.530
IGSF3	HDLBP	psi-mi:“MI:0915”(physical association)	0.400
IGSF3	H4C16	psi-mi:“MI:0915”(physical association)	0.400
IGSF3	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
IGSF3	RAN	psi-mi:“MI:0915”(physical association)	0.400
IGSF3	H1-2	psi-mi:“MI:0915”(physical association)	0.400
IGSF3	H2BC5	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (112): IGSF3 (Affinity Capture-MS), IGSF3 (Affinity Capture-MS), IGSF3 (Affinity Capture-MS), IGSF3 (Affinity Capture-MS), IGSF3 (Affinity Capture-MS), IGSF3 (Affinity Capture-MS), IGSF3 (Affinity Capture-MS), IGSF3 (Affinity Capture-MS), IGSF3 (Affinity Capture-MS), IGSF3 (Affinity Capture-MS), IGSF3 (Proximity Label-MS), IGSF3 (Affinity Capture-RNA), IGSF3 (Affinity Capture-MS), HIST1H1C (Proximity Label-MS), HIST1H2BD (Proximity Label-MS)

ESM2 similar proteins: A6NMB1, D3ZQE1, E9QA28, G1T7E7, G1TR84, O75054, O75144, P05362, P07722, P09564, P11364, P15151, P16573, P20916, P20917, P32506, P32942, P33729, Q08ET2, Q1WIM1, Q1WIM3, Q28110, Q28125, Q28730, Q28806, Q2WEN9, Q5DRQ8, Q5NKU6, Q5NKV4, Q5NKV6, Q5NKV9, Q5R996, Q60625, Q64JA4, Q6BAA4, Q7TSU7, Q8N126, Q8NFZ8, Q8R464, Q8VBT3

Diamond homologs: A0JPB1, A8E0Y8, O75054, Q5U5A3, Q6ZQA6, Q8R366, Q93033, Q969P0, Q62786, Q9WV91

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 77 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Amyloid fiber formation	7	12.9×	4e-04
Neutrophil degranulation	11	4.5×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	176
Likely benign	19
Benign	9

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
162496	NM_001007237.3(IGSF3):c.2935del (p.Arg979fs)	Pathogenic
1678181	NM_001007237.3(IGSF3):c.3063del (p.Asp1021fs)	Likely pathogenic

SpliceAI

2421 predictions. Top by Δscore:

Variant	Effect	Δscore
1:116577558:GGGAC:G	acceptor_gain	1.0000
1:116577559:GGAC:G	acceptor_gain	1.0000
1:116577560:GACC:G	acceptor_loss	1.0000
1:116577563:C:CC	acceptor_gain	1.0000
1:116577564:T:C	acceptor_loss	1.0000
1:116577574:CA:C	acceptor_gain	1.0000
1:116577575:A:C	acceptor_gain	1.0000
1:116579385:AACT:A	donor_loss	1.0000
1:116579386:ACTC:A	donor_loss	1.0000
1:116579388:TCA:T	donor_loss	1.0000
1:116579389:CA:C	donor_loss	1.0000
1:116579390:A:AC	donor_gain	1.0000
1:116579391:C:CA	donor_gain	1.0000
1:116579391:CTTGT:C	donor_gain	1.0000
1:116579873:AGCAT:A	acceptor_gain	1.0000
1:116579875:CAT:C	acceptor_gain	1.0000
1:116579885:A:C	acceptor_gain	1.0000
1:116584639:CCTCA:C	donor_loss	1.0000
1:116584640:CTCAC:C	donor_loss	1.0000
1:116584641:TCA:T	donor_loss	1.0000
1:116584642:CAC:C	donor_loss	1.0000
1:116584643:A:T	donor_loss	1.0000
1:116584644:CCTG:C	donor_loss	1.0000
1:116588688:CCTTA:C	donor_loss	1.0000
1:116588689:CTTA:C	donor_loss	1.0000
1:116588690:TTACC:T	donor_loss	1.0000
1:116588691:TAC:T	donor_loss	1.0000
1:116588692:A:C	donor_loss	1.0000
1:116588693:C:CA	donor_loss	1.0000
1:116588693:CCTGG:C	donor_gain	1.0000

AlphaMissense

7844 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:116588788:G:C	C782W	1.000
1:116588789:C:G	C782S	1.000
1:116588789:C:T	C782Y	1.000
1:116588790:A:G	C782R	1.000
1:116588790:A:T	C782S	1.000
1:116588834:A:G	L767P	1.000
1:116588942:A:G	L731P	1.000
1:116588983:C:A	W717C	1.000
1:116588983:C:G	W717C	1.000
1:116588985:A:G	W717R	1.000
1:116588985:A:T	W717R	1.000
1:116589031:G:C	C701W	1.000
1:116589032:C:G	C701S	1.000
1:116589032:C:T	C701Y	1.000
1:116589033:A:G	C701R	1.000
1:116589033:A:T	C701S	1.000
1:116600036:C:G	C645S	1.000
1:116600037:A:G	C645R	1.000
1:116600037:A:T	C645S	1.000
1:116600043:A:C	Y643D	1.000
1:116600226:A:G	W582R	1.000
1:116600226:A:T	W582R	1.000
1:116600272:A:C	C566W	1.000
1:116600273:C:G	C566S	1.000
1:116600274:A:G	C566R	1.000
1:116600274:A:T	C566S	1.000
1:116608037:C:G	C376S	1.000
1:116608038:A:G	C376R	1.000
1:116608038:A:T	C376S	1.000
1:116608212:A:G	W318R	1.000

dbSNP variants (sampled 300 via entrez): RS1000035330 (1:116587196 T>C,G), RS1000052371 (1:116630118 G>A,C), RS1000308253 (1:116574831 T>G), RS1000353789 (1:116663721 G>A), RS1000376397 (1:116623956 G>A), RS1000413314 (1:116581260 G>A), RS1000444067 (1:116659756 C>T), RS1000563159 (1:116659982 G>C), RS1000581093 (1:116617476 G>A,C), RS1000617940 (1:116580877 T>C), RS1000630325 (1:116610545 T>C), RS1000742625 (1:116653594 C>A,T), RS1000753311 (1:116647107 C>T), RS1000766129 (1:116617208 A>G), RS1000779721 (1:116598959 T>C)

Disease associations

OMIM: gene MIM:603491 | disease phenotypes: MIM:149700

GenCC curated gene-disease

Disease	Classification	Inheritance
familial congenital nasolacrimal duct obstruction	Supportive	Autosomal recessive

Mondo (4): familial congenital nasolacrimal duct obstruction (MONDO:0007871), myoepithelial tumor (MONDO:0002380), esophageal atresia (MONDO:0001044), pyloric stenosis (MONDO:0001561)

Orphanet (1): Familial congenital nasolacrimal duct obstruction (Orphanet:451612)

HPO phenotypes

8 total (10 of 8 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000246	Sinusitis
HP:0000509	Conjunctivitis
HP:0000564	Lacrimal duct atresia
HP:0000620	Dacryocystitis
HP:0009926	Epiphora
HP:0030752	Dacryocystocele
HP:0100539	Periorbital edema
HP:0002032	Esophageal atresia
HP:0002021	Pyloric stenosis

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002088_6	Asthma (childhood onset)	5.000000e-06
GCST006585_2680	Blood protein levels	2.000000e-06
GCST011122_28	Walking pace	2.000000e-08

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D004933	Esophageal Atresia	C06.198.330; C06.405.117.260; C16.131.314.330
D017219	Gastric Outlet Obstruction	C06.405.748.340
D009208	Myoepithelioma	C04.557.435.585
D011707	Pyloric Stenosis	C06.405.748.340.690
C566703	Lacrimal Puncta, Absence of (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation, affects cotreatment, increases expression	6
sodium arsenite	decreases expression, increases expression	3
bisphenol A	decreases expression, decreases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TL8-506	affects cotreatment, increases expression	1
methylselenic acid	affects expression	1
afimoxifene	decreases expression, decreases reaction	1
butyraldehyde	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
tebuconazole	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression	1
Temozolomide	increases expression	1
Decitabine	affects expression	1
Leflunomide	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Calcitriol	increases expression	1
Cisplatin	affects expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Estrogens	decreases expression, decreases reaction	1
Gasoline	increases abundance, increases expression, affects cotreatment	1
Hydrogen Peroxide	increases expression	1
Lipopolysaccharides	increases expression, decreases reaction	1
Nicotine	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D9GU	Ubigene HEK293 IGSF3 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00556283	PHASE4	COMPLETED	RCT: STARR vs Biofeedback
NCT00226044	PHASE3	COMPLETED	Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants.
NCT03127345	PHASE2	WITHDRAWN	Omega 3 Fatty Acid Treatment for Pediatric Musculoskeletal Health
NCT03600649	PHASE1	UNKNOWN	Clinical Trial of SP-2577 (Seclidemstat) in Patients With Relapsed or Refractory Ewing or Ewing-related Sarcomas
NCT05266196	PHASE1/PHASE2	UNKNOWN	A Rollover Protocol to Allow for Continued Access to the LSD1 Inhibitor Seclidemstat (SP-2577)
NCT06239272	PHASE1/PHASE2	RECRUITING	NRSTS2021, A Risk Adapted Study Evaluating Maintenance Pazopanib, Limited Margin, Dose-Escalated Radiation Therapy and Selinexor in Non-Rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS)
NCT06625190	PHASE1/PHASE2	RECRUITING	Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors
NCT06244420	Not specified	COMPLETED	Malignant Myoepithelioma of Bone and Soft Tissues: Diagnostic Imaging and Histology in Relation to Prognosis
NCT02033772	Not specified	COMPLETED	Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery
NCT02466451	Not specified	COMPLETED	Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA)
NCT02525705	Not specified	COMPLETED	Dumping Syndrome After Operation of Esophageal Atresia Type III
NCT02883725	Not specified	COMPLETED	National Register of Oesophageal Atresia
NCT03023865	Not specified	UNKNOWN	Individualized Management for Long Gap Esophageal Atresia
NCT03415893	Not specified	COMPLETED	High-resolution Esophageal Manometry
NCT03455881	Not specified	UNKNOWN	Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients
NCT03615495	Not specified	COMPLETED	Flourish™ Pediatric Esophageal Atresia
NCT03619408	Not specified	UNKNOWN	Management of Esophagitis Following Repair of Esophageal Atresia
NCT03666767	Not specified	COMPLETED	Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries
NCT03730454	Not specified	ACTIVE_NOT_RECRUITING	Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair
NCT03767673	Not specified	UNKNOWN	Cardiorespiratory Performance and Pulmonary Microbiome in Patients After Repair of Esophageal Atresia
NCT03999008	Not specified	UNKNOWN	Oral Viscous Budesonide in Anastomotic Stricture After Esophageal Atresia Repair (OVB in EA)
NCT04072419	Not specified	UNKNOWN	Application of Enhanced Recovery After Surgery for Congenital Esophageal Atresia During Perioperative Period
NCT04136795	Not specified	UNKNOWN	Evaluation of the Respiratory Impact After Conventional or Minimally Invasive Esophageal Atresia Surgery
NCT04259528	Not specified	UNKNOWN	Endoscopic Ultrasound Findings in Esophageal Atresia Following Surgical Repair
NCT04522193	Not specified	RECRUITING	Dumping Syndrome and Esophageal Atresia
NCT04901546	Not specified	COMPLETED	Esophageal Atresia: a Natural Experiment of the Effects of Oral Inoculation on the Gut Microbiome
NCT04932746	Not specified	COMPLETED	The Effect of Dexmedetomidine on Oxygen During One Lung Ventilation in Pediatric Surgery.
NCT05129930	Not specified	COMPLETED	Fluid Overload and Pulmonary Function
NCT05527873	Not specified	COMPLETED	Respiratory Complications of Operated Esophageal Atresia in Children
NCT05995171	Not specified	RECRUITING	Long Term Outcome of Easophageal Atresia : Transmics Profiles in Adolescence
NCT06073158	Not specified	COMPLETED	Molecular Signatures of Esophageal Atresia
NCT06208449	Not specified	UNKNOWN	Robotic Versus Thoracoscopy Versus Thoracotomy Repair for Congenital Esophageal Atresia
NCT06335862	Not specified	ENROLLING_BY_INVITATION	Primary Posterior Tracheopexy Prevents Tracheal Collapse
NCT06731855	Not specified	RECRUITING	An Exploratory Physiological Study of Post-operative Recovery in Surgical Neonates and Dimethylarginine:Arginine Levels
NCT06860919	Not specified	RECRUITING	Prospective Evaluation of the Results of Multidisciplinary Follow-up After a Transitional Consultation for Esophageal Atresia
NCT06975982	Not specified	RECRUITING	Symptoms, Pulmonary Function, Muscle Strength, Exercise Capacity, and Frailty in Esophageal Atresia vs. Healthy Peers
NCT07100379	Not specified	RECRUITING	Balloon Inflation Time for Esophageal Strictures (BITES): A Randomized Multi-Center Study
NCT07210736	Not specified	NOT_YET_RECRUITING	Brazilian Multicenter Study on Esophageal Atresia
NCT03223480	PHASE2/PHASE3	COMPLETED	EUS - Guided Balloon-occluded Gastrojejunostomy Bypass
NCT01139853	EARLY_PHASE1	COMPLETED	Post-Operative Impact of Nasogastric Tubes on Rates of Emesis in Infants Diagnosed With Pyloric Stenosis