FOXC1

Summary

FOXC1 (forkhead box C1, HGNC:3800) is a protein-coding gene on chromosome 6p25.3, encoding Forkhead box protein C1 (Q12948). DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development. It is haploinsufficient (ClinGen: sufficient evidence).

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly.

Source: NCBI Gene 2296 — RefSeq curated summary.

At a glance

• Gene–disease (curated): FOXC1-related anterior segment dysgenesis (Definitive, ClinGen) — +8 more curated relationships
• GWAS associations: 21
• Clinical variants (ClinVar): 794 total — 114 pathogenic, 41 likely-pathogenic
• Phenotypes (HPO): 72
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 289 downstream targets (CollecTRI)
• MANE Select transcript: NM_001453

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3800
Approved symbol	FOXC1
Name	forkhead box C1
Location	6p25.3
Locus type	gene with protein product
Status	Approved
Aliases	FREAC3, ARA, IGDA, IHG1
Ensembl gene	ENSG00000054598
Ensembl biotype	protein_coding
OMIM	601090
Entrez	2296

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000645831

RefSeq mRNA: 1 — MANE Select: NM_001453 NM_001453

CCDS: CCDS4473

Canonical transcript exons

ENST00000645831 — 1 exons

Exon	Start	End
ENSE00003817315	1609915	1613897

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 99.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.4884 / max 271.3708, expressed in 1351 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
65430	4.9847	1235
65432	2.4789	642
65435	0.6081	276
65437	0.5561	255
65431	0.2995	145
65434	0.2316	119
65436	0.1721	59
65433	0.1575	61

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	99.91	gold quality
vena cava	UBERON:0004087	98.65	gold quality
trigeminal ganglion	UBERON:0001675	98.30	gold quality
renal medulla	UBERON:0000362	97.94	gold quality
palpebral conjunctiva	UBERON:0001812	97.93	gold quality
tibia	UBERON:0000979	97.67	gold quality
endothelial cell	CL:0000115	97.29	gold quality
cartilage tissue	UBERON:0002418	97.14	gold quality
nipple	UBERON:0002030	96.97	gold quality
urethra	UBERON:0000057	96.85	gold quality
renal glomerulus	UBERON:0000074	96.61	gold quality
metanephric glomerulus	UBERON:0004736	96.60	gold quality
buccal mucosa cell	CL:0002336	96.45	gold quality
blood vessel layer	UBERON:0004797	96.36	gold quality
popliteal artery	UBERON:0002250	95.82	gold quality
tibial artery	UBERON:0007610	95.80	gold quality
aorta	UBERON:0000947	95.70	gold quality
thoracic aorta	UBERON:0001515	95.57	gold quality
ascending aorta	UBERON:0001496	95.55	gold quality
descending thoracic aorta	UBERON:0002345	95.45	gold quality
tendon of biceps brachii	UBERON:0008188	95.30	gold quality
dorsal root ganglion	UBERON:0000044	94.99	gold quality
saphenous vein	UBERON:0007318	94.92	gold quality
choroid plexus epithelium	UBERON:0003911	94.86	gold quality
pericardium	UBERON:0002407	94.70	gold quality
synovial joint	UBERON:0002217	94.56	gold quality
right coronary artery	UBERON:0001625	93.68	gold quality
seminal vesicle	UBERON:0000998	93.57	gold quality
layer of synovial tissue	UBERON:0007616	93.45	gold quality
parietal pleura	UBERON:0002400	93.06	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	151.24
E-GEOD-75688	yes	87.50
E-ANND-3	yes	17.87
E-HCAD-10	yes	15.52
E-MTAB-6142	no	24.43
E-CURD-112	no	2.98

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

289 targets.

Target	Regulation
ABCC1
ABCG2
ACE
ACHE
ACOT11
ACRV1
ADIPOQ
ADRA1D
ADRB2
AFP
AGO2
AHSP
AKT1
ALAS2
ALX4	Unknown
APLN
APOM
ARHGEF2
ASNS
ATF6
ATP7A
AXL
BBC3
BCL2
BCL2L1
BCL2L11
BGLAP
BIRC5
BMI1
BMP2

JASPAR motifs

Motif	Name	Family
MA0032.1	FOXC1	FOX
MA0032.2	FOXC1	FOX

JASPAR matrix evidence (PMIDs): PMID:7957066, PMID:17993506

Upstream regulators (CollecTRI, top): AP1, BRCA1, CEBPA, CEBPB, CREB1, CUX1, EGR1, ELF3, ESR1, EZH2, FOS, FOSL2, FOXA1, FOXO3, GATA3, GLI2, HSF1, IRF1, JUN, KLF4, KMT2A, MEOX1, NR2F2, PGR, RARA, RARG, RUNX1, SMAD2, SP1, SUZ12, TFAP2C, VDR, ZEB1

miRNA regulators (miRDB)

122 targeting FOXC1, 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-4692	100.00	67.32	2066
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-3065-5P	99.97	71.56	3281
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-302C-5P	99.97	72.56	3642
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-204-5P	99.79	71.62	2439

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Four different FOXC1 mutations were found in four of six Japanese pedigrees with Axenfeld-Rieger syndrome. (PMID:11740218)
• FOXC1 is under complex regulatory control with multiple functional domains modulating FOXC1 transcriptional regulation. (PMID:11782474)
• none of the families had a detectable FOXC1 mutation. (PMID:11821690)
• FOXC1 functions as a tumor suppressor through TGF-beta1 mediated signals. (PMID:12408963)
• Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly. (PMID:12454026)
• Significant genetic heterogeneity of FOXC1 was observed in a multi-ethnic population studied in this region of India resulting in variable ARA phenotypes. (PMID:12592227)
• This report confirms that Rieger syndrome (with dental and facial abnormalities) can be caused by a mutation in FOXC1. It is also the first report of Peters anomaly being caused by a FOXC1 mutation. (PMID:12614756)
• Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1 were performed. (PMID:14506133)
• A novel mutation in helix 1 of the FOXC1 forkhead domain has been identified and the importance of position 86 in FOXC1 activity demonstrated. (PMID:14578375)
• Determination of amino acids within the forkhead domain of FOXC1 that are important for FOXC1 function. (PMID:15299087)
• in Axenfeld-Rieger anomaly, a T–>C transition, is predicted to result in a change of isoleucine to threonine (Ile9lThr) in a highly conserved location within the first helix of the forkhead domain. (PMID:15477465)
• Functional interaction between FOXC1 and PITX2A underlies the sensitivity to FOXC1 gene dosage in Axenfeld-Rieger syndrome and related anterior segment dysgeneses. (PMID:16449236)
• FOXC1 protein levels and activity are tightly regulated by post-translational modifications (PMID:16492674)
• The frequency of mutations in the FOXC1, GJA1, PITX2, and CYP1B1 genes in this study were 25%, 12.5%, 0% and 0%, respectively. (PMID:16638984)
• The findings in the present study clearly demonstrate that FOXC1 and PITX2 mutations are responsible for a significant proportion of Axenfeld-Rieger malformations in Germany. (PMID:16936096)
• these data implicate specific members of the FOX family of TFs (FOXC1, C2, P1, P4, and O1A) not previously suggested in heart failure pathogenesis. (PMID:16952980)
• This study reveals an important role for FOXC1 in the direct regulation of the FGF19-FGFR4-MAPK pathway to promote both the development and maintenance of anterior segment structures within the eye. (PMID:17000708)
• A patient is described with a 6pter deletion detected by SNP genotyping and DNA probes involving the FOXC1 gene. (PMID:17157569)
• Patients with FOXC1 mutations have the mildest prognosis for glaucoma development, whereas patients with PITX2 defects and patients with FOXC1 duplication have a more severe prognosis for glaucoma development than do patients with FOXC1 mutations. (PMID:17197537)
• PITX2, BARX1, and FOXC1 mutations were absent in De Hauwere syndrome and suggest that De Hauwere syndrome is caused by a different gene. (PMID:17486624)
• In addition, no pathogenic sequence variations were found in DCN, DSPG3, LUM, PITX2 and FOXC1, which have also been implicated in corneal and anterior segment dysgenesis. (PMID:17558846)
• Novel mutation in Helix1 and novel deletion in Wing1 and Beta2 of forkhead domain of FOXC1 gene have been identified in two families with Axenfeld-Rieger syndrome. (PMID:17653043)
• FOXC1 regulates the expression of FOXO1A and binds to a conserved element in the FOXO1A promoter (PMID:17993506)
• Heterozygous FOXC1 mutation is associated with congenital glaucoma and aniridia (PMID:18484311)
• the role of FOXC1 mutations in the spectrum of anterior segment dysgenesis . (PMID:18498376)
• The exclusion of these genes as likely candidates supports the hypothesis that the ocular phenotype associated with peters’ anomaly segregating in this family is a distinct, new, autosomal dominant entity in the anterior segment dysgenesis spectrum. (PMID:18616618)
• Failure of p32 to interact with FOXC1 containing the disease-causing F112S mutation indicates that impaired protein interaction may be a disease mechanism for AR malformations. (PMID:18676636)
• The present study indicates a limited role of FOXC1 in primary congenital glaucoma pathogenesis. (PMID:18708620)
• Severe molecular consequences, including the inability of the W152G protein aggregates to form protective aggresomes, may underlie the aniridia phenotype that results from the FOXC1 W152G mutation. (PMID:19279310)
• A brief review of the clinical features and the relevant diagnostic approaches, together with a detailed review of published PITX2 and FOXC1 mutations in Axenfeld-Rieger syndrome, is given. (PMID:19513095)
• A potential susceptibility role for FOXC1 in generating severe eye pathologies, is demonstrated. (PMID:19626132)
• FOXC1 is required for normal cerebellar development and is a major contributior to chromosome 6p25.3 Dandy-Walker syndrome. (PMID:19668217)
• first FOXC1 missense mutation, P297S, that occurs outside of the forkhead domain is reported and functionally examined; 889C > T transition, resulting in P297S, was identified in two unrelated individuals with anterior segment dysgenesis (PMID:19793056)
• Quantitative methylation analysis identified ABCB1, FOXC1, PPP2R2B and PTEN as novel genes to be methylated in ductal carcinoma in situ. (PMID:20056007)
• We investigated methylation patterns in the promoter regions of ABCB1, ATM, BRCA1, CDH3, CDKN2A, CXCR4, ESR1, FBXW7, FOXC1, GSTP1, IGF2, HMLH1, PPP2R2B, and PTEN75 in well-described pre-treatment samples from locally advanced breast cancer (PMID:20338046)
• Overexpression of the transcription factor FOXC1 is associated with basal-like breast cancer. (PMID:20406990)
• FOXC1 and PITX2 genetic defects explain 40% of our large anterior segment malformations. (PMID:20881294)
• MYOC and FOXC1 mutations are not involved in pathogenesis of primary congenital glaucoma patients. (PMID:21031026)
• No mutations were found by direct sequencing of PITX2 and FOXC1 genes, in the twin sisters. (PMID:21278591)
• This high frequency of causal submicroscopic chromosomal aberrations in patients with congenital ocular malformation warrants implementation of array comparative genomic hybridization in the diagnostic work-up of these patients. (PMID:21353197)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	foxc1a	ENSDARG00000091481
mus_musculus	Foxc1	ENSMUSG00000050295
rattus_norvegicus	Foxc1	ENSRNOG00000089468

Paralogs (41): FOXP3 (ENSG00000049768), FOXJ2 (ENSG00000065970), FOXF1 (ENSG00000103241), FOXN1 (ENSG00000109101), FOXM1 (ENSG00000111206), FOXP1 (ENSG00000114861), FOXO3 (ENSG00000118689), FOXA2 (ENSG00000125798), FOXA1 (ENSG00000129514), FOXJ1 (ENSG00000129654), FOXK2 (ENSG00000141568), FOXO1 (ENSG00000150907), FOXH1 (ENSG00000160973), FOXQ1 (ENSG00000164379), FOXK1 (ENSG00000164916), FOXD4 (ENSG00000170122), FOXA3 (ENSG00000170608), FOXB1 (ENSG00000171956), FOXR1 (ENSG00000176302), FOXL1 (ENSG00000176678), FOXC2 (ENSG00000176692), FOXE1 (ENSG00000178919), FOXS1 (ENSG00000179772), FOXL2 (ENSG00000183770), FOXO4 (ENSG00000184481), FOXD4L1 (ENSG00000184492), FOXD4L4 (ENSG00000184659), FOXD2 (ENSG00000186564), FOXI2 (ENSG00000186766), FOXE3 (ENSG00000186790), FOXD3 (ENSG00000187140), FOXD4L3 (ENSG00000187559), FOXR2 (ENSG00000189299), FOXJ3 (ENSG00000198815), FOXO6 (ENSG00000204060), FOXB2 (ENSG00000204612), FOXD4L5 (ENSG00000204779), FOXI3 (ENSG00000214336), FOXL3 (ENSG00000248767), FOXD1 (ENSG00000251493)

Protein

Protein identifiers

Forkhead box protein C1 — Q12948 (reviewed: Q12948)

Alternative names: Forkhead-related protein FKHL7, Forkhead-related transcription factor 3

All UniProt accessions (2): Q12948, W6CJ52

UniProt curated annotations — full annotation on UniProt →

Function. DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development. Acts either as a transcriptional activator or repressor. Binds to the consensus binding site 5’-[G/C][A/T]AAA[T/C]AA[A/C]-3’ in promoter of target genes. Upon DNA-binding, promotes DNA bending. Acts as a transcriptional coactivator. Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification. Also acts as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells. Regulates FOXO1 through binding to a conserved element, 5’-GTAAACAAA-3’ in its promoter region, implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye. Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity. Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals. Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression. Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation. Essential developmental transcriptional factor required for mesoderm-derived tissues, such as the somites, skin, bone and cartilage. Positively regulates CXCL12 and stem cell factor expression in bone marrow mesenchymal progenitor cells, and hence plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression. May function as a tumor suppressor.

Subunit / interactions. Monomer. Interacts with C1QBP. Interacts (via N-terminus) with GLI2 (via C-terminal internal region); this interaction is direct and increases GLI2 DNA-binding and transcriptional activity through a smoothened (SMO)-independent Hedgehog (Hh) signaling pathway. Interacts (via C-terminus domain) with PITX2 isoform 3 (via homeobox domain). Interacts with FLNA and PBX1.

Subcellular location. Nucleus.

Tissue specificity. Expressed in keratinocytes of epidermis and hair follicle. Expressed strongly in microvascular invasion (MVI) formation, basal-like breast cancer (BLBC) and hepatocellular tumors. Expressed in breast cancers (at protein level). Expressed in hematopoietic cells.

Post-translational modifications. Phosphorylated. Phosphorylated on Ser-272 in response to epidermal growth factor (EGF) in a ERK1/2 MAPK-dependent signaling pathway; phosphorylation contributes to its protein stability and transcriptional activity. Sumoylated preferentially with SUMO2 or SUMO3. Desumoylated by SENP2. Ubiquitinated, leading to its proteasomal degradation.

Disease relevance. Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome. The disease is caused by variants affecting the gene represented in this entry. Anterior segment dysgenesis 3 (ASGD3) [MIM:601631] A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Induction. Up-regulated during the progression of epidermal keratinocyte differentiation (at protein level). Up-regulated upon calcium-mediated keratinocyte differentiation. Up-regulated by transforming growth factor TGFB1.

RefSeq proteins (1): NP_001444* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001766	Fork_head_dom	Domain
IPR018122	TF_fork_head_CS_1	Conserved_site
IPR030456	TF_fork_head_CS_2	Conserved_site
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR047391	FOXC1/C2-like_FH	Domain
IPR050211	FOX_domain-containing	Family

Pfam: PF00250

UniProt features (80 total): sequence variant 31, mutagenesis site 21, compositionally biased region 8, region of interest 6, modified residue 5, sequence conflict 5, short sequence motif 2, chain 1, DNA-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q12948-F1	56.09	0.15

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 (5): 235, 241, 272, 320, 521

Mutagenesis-validated functional residues (21):

Position	Phenotype
68	no effect on protein stability. no effect on transcriptional activity.
79	decreased nuclear localization. no effect on dna-binding activity. decreased transcriptional activity.
86	decreased nuclear localization. no effect on dna-binding activity. decreased transcriptional activity.
86	severely disrupts the protein function.
87	loss of protein stability.
91	decreased nuclear localization. decreased dna-binding activity. decreased transcriptional activity.
91	decreased nuclear localization. no effect on dna-binding activity. decreased transcriptional activity.
126	decreased nuclear localization. decreased dna-binding activity. decreased transcriptional activity.
127	decreased nuclear localization. decreased dna-binding activity. decreased transcriptional activity.
241	decreased protein stability. no effect on transcriptional activity.
259	no effect on protein stability. no effect on transcriptional activity.
272	decreased protein stability. decreased transcriptional activity.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9761174	Formation of intermediate mesoderm
R-HSA-9830674	Formation of the ureteric bud

MSigDB gene sets: 0 (showing top):

GO Biological Process (62): negative regulation of transcription by RNA polymerase II (GO:0000122), angiogenesis (GO:0001525), ovarian follicle development (GO:0001541), eye development (GO:0001654), ureteric bud development (GO:0001657), in utero embryonic development (GO:0001701), somitogenesis (GO:0001756), kidney development (GO:0001822), lymph vessel development (GO:0001945), endochondral ossification (GO:0001958), blood vessel remodeling (GO:0001974), apoptotic process involved in outflow tract morphogenesis (GO:0003275), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), Notch signaling pathway (GO:0007219), heart development (GO:0007507), cell population proliferation (GO:0008283), primordial germ cell migration (GO:0008354), anatomical structure morphogenesis (GO:0009653), positive regulation of gene expression (GO:0010628), positive regulation of epithelial to mesenchymal transition (GO:0010718), mesenchymal cell development (GO:0014031), neural crest cell development (GO:0014032), cell migration (GO:0016477), negative regulation of angiogenesis (GO:0016525), cerebellum development (GO:0021549), cell differentiation (GO:0030154), collagen fibril organization (GO:0030199), glycosaminoglycan metabolic process (GO:0030203), lacrimal gland development (GO:0032808), embryonic heart tube development (GO:0035050), maintenance of lens transparency (GO:0036438), vascular endothelial growth factor signaling pathway (GO:0038084), odontogenesis of dentin-containing tooth (GO:0042475), camera-type eye development (GO:0043010), positive regulation of DNA binding (GO:0043388), positive regulation of keratinocyte differentiation (GO:0045618), positive regulation of DNA-templated transcription (GO:0045893), negative regulation of mitotic cell cycle (GO:0045930), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (13): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), DNA binding, bending (GO:0008301), sequence-specific DNA binding (GO:0043565), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), DNA-binding transcription factor binding (GO:0140297), promoter-specific chromatin binding (GO:1990841), protein binding (GO:0005515)

GO Cellular Component (5): chromatin (GO:0000785), heterochromatin (GO:0000792), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Gastrulation	1
Kidney development	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
anatomical structure development	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
anatomical structure formation involved in morphogenesis	2
chordate embryonic development	2
animal organ development	2
regulation of gene expression	2
regulation of DNA-templated transcription	2
transcription cis-regulatory region binding	2
chromatin	2
DNA binding	2
negative regulation of DNA-templated transcription	1
blood vessel morphogenesis	1
female gonad development	1
sensory organ development	1
visual system development	1
mesonephric tubule development	1
anterior/posterior pattern specification	1
segmentation	1
somite development	1
renal system development	1
vasculature development	1
replacement ossification	1
endochondral bone morphogenesis	1
tissue remodeling	1
outflow tract morphogenesis	1
apoptotic process involved in heart morphogenesis	1
DNA-templated transcription	1
regulation of RNA biosynthetic process	1
cell surface receptor signaling pathway	1
circulatory system development	1
cellular process	1
gamete generation	1
cell migration	1
developmental process	1
gene expression	1
positive regulation of macromolecule biosynthetic process	1
transcription regulatory region nucleic acid binding	1

Protein interactions and networks

STRING

2538 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FOXC1	PITX2	Q99697	988
FOXC1	GMDS	O60547	886
FOXC1	CYP1B1	Q16678	849
FOXC1	PAX6	P26367	754
FOXC1	PBX1	P40424	724
FOXC1	GLI2	P10070	700
FOXC1	BMP4	P12644	673
FOXC1	TCF15	Q12870	638
FOXC1	MESP1	Q9BRJ9	630
FOXC1	TFAP2A	P05549	622
FOXC1	MYOC	Q99972	619
FOXC1	SIX1	Q15475	618
FOXC1	SOX2	P48431	597
FOXC1	EFNB2	P52799	591
FOXC1	POU5F1	P31359	571

IntAct

91 interactions, top by confidence:

A	B	Type	Score
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
NHERF2	PODXL	psi-mi:“MI:0914”(association)	0.770
HSPA8	GAK	psi-mi:“MI:0914”(association)	0.760
PPP2R2D	YEATS4	psi-mi:“MI:0914”(association)	0.730
FOXC1	PBX1	psi-mi:“MI:0915”(physical association)	0.700
PBX1	FOXC1	psi-mi:“MI:0915”(physical association)	0.700
FOXC1	PBX1	psi-mi:“MI:0403”(colocalization)	0.700
NFIC	NFIB	psi-mi:“MI:2364”(proximity)	0.690
FOXC1	C1QBP	psi-mi:“MI:0915”(physical association)	0.610
C1QBP	FOXC1	psi-mi:“MI:0915”(physical association)	0.610
FLNA	FOXC1	psi-mi:“MI:0915”(physical association)	0.610
FOXC1	FLNA	psi-mi:“MI:0915”(physical association)	0.610
FLNA	FOXC1	psi-mi:“MI:0403”(colocalization)	0.610
FOXC1	FLNA	psi-mi:“MI:0403”(colocalization)	0.610
PPP2R2D	ENSA	psi-mi:“MI:0914”(association)	0.570
PITX2	FOXC1	psi-mi:“MI:0915”(physical association)	0.560
FOXC1	PITX2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (267): FOXC1 (Affinity Capture-MS), FOXC1 (Affinity Capture-MS), FOXC1 (Affinity Capture-MS), FOXC1 (Affinity Capture-MS), FOXC1 (Affinity Capture-MS), FOXC1 (Proximity Label-MS), FOXC1 (Affinity Capture-MS), FOXC1 (Affinity Capture-MS), FOXC1 (Affinity Capture-MS), FOXC2 (Affinity Capture-MS), RECQL (Affinity Capture-MS), CREB1 (Affinity Capture-MS), HOXB9 (Affinity Capture-MS), HOXD13 (Affinity Capture-MS), MECP2 (Affinity Capture-MS)

ESM2 similar proteins: A0A8V0YY16, A0JPN1, A1YG01, A2D4R4, A2D649, A2T6H5, A2T6Z0, A2T7J2, A3KNJ3, A7MB54, A8MTJ6, B5RHS5, D3Z120, O54743, P09027, P14653, P17919, P31249, P32183, P35584, P55316, P55318, P56260, Q00939, Q12946, Q12947, Q12948, Q12951, Q1A1A1, Q1A1A2, Q1A1A3, Q1A1A4, Q1A1A5, Q1A1A6, Q28D67, Q28HT3, Q3I5G5, Q3Y598, Q60987, Q61080

Diamond homologs: A0A078BQN7, A0A1W2PRP0, A0A8V0YY16, A1L1S5, A3KNJ3, A8MTJ6, A8XJN7, B5RHS5, D3Z120, F1R8Z9, O00358, O17617, O43638, O54743, O60129, O88470, P32027, P32028, P32030, P32315, P42128, P55316, P56260, P58012, P79772, P85037, P91278, Q00939, Q01167, Q02360, Q12946, Q12947, Q12948, Q12950, Q12951, Q12952, Q13461, Q19802, Q1A1A1, Q1A1A2

SIGNOR signaling

8 interactions.

A	Effect	B	Mechanism
FOXC1	up-regulates	RBPJ	binding
MAPK14	“up-regulates quantity by stabilization”	FOXC1	phosphorylation
p38	“up-regulates quantity by stabilization”	FOXC1	phosphorylation
FOXC1	“up-regulates quantity by expression”	MMP10	“transcriptional regulation”
FOXC1	“up-regulates quantity by expression”	SOX13	“transcriptional regulation”
FOXC1	“up-regulates quantity by expression”	SOX4	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 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.

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of neuron differentiation	5	16.6×	1e-03
cartilage development	5	15.3×	1e-03
anatomical structure morphogenesis	9	15.3×	2e-06
transcription by RNA polymerase II	10	8.6×	4e-05
brain development	8	7.8×	8e-04
protein stabilization	8	6.5×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	114
Likely pathogenic	41
Uncertain significance	434
Likely benign	133
Benign	22

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
100688	NM_001453.3(FOXC1):c.377T>G (p.Ile126Ser)	Pathogenic
1071356	NM_001453.3(FOXC1):c.51del (p.Tyr18fs)	Pathogenic
1072188	NM_001453.3(FOXC1):c.244dup (p.Ser82fs)	Pathogenic
1076933	NM_001453.3(FOXC1):c.712C>T (p.Gln238Ter)	Pathogenic
1224520	NM_001453.3(FOXC1):c.504GCG[4] (p.Arg173del)	Pathogenic
1251979	NM_001453.3(FOXC1):c.246C>A (p.Ser82Arg)	Pathogenic
1322930	NM_001453.3(FOXC1):c.1059C>G (p.Tyr353Ter)	Pathogenic
1458299	NM_001453.3(FOXC1):c.143C>A (p.Ser48Ter)	Pathogenic
146401	GRCh38/hg38 6p25.3-25.2(chr6:1441186-2351374)x1	Pathogenic
1506339	NM_001453.3(FOXC1):c.399C>G (p.Asn133Lys)	Pathogenic
1524543	NM_001453.3(FOXC1):c.256_267del (p.Leu86_Met89del)	Pathogenic
1685825	NM_001453.3(FOXC1):c.398_401del (p.Asn133fs)	Pathogenic
1693137	NM_001453.3(FOXC1):c.65dup (p.Gln23fs)	Pathogenic
1693138	NM_001453.3(FOXC1):c.176dup (p.Met60fs)	Pathogenic
1693139	NM_001453.3(FOXC1):c.274C>T (p.Gln92Ter)	Pathogenic
1693140	NM_001453.3(FOXC1):c.354del (p.Asn118fs)	Pathogenic
1693141	NM_001453.3(FOXC1):c.366G>A (p.Trp122Ter)	Pathogenic
1693143	NM_001453.3(FOXC1):c.816_817delinsA (p.Ser272fs)	Pathogenic
1693145	NM_001453.3(FOXC1):c.965_977dup (p.Leu328fs)	Pathogenic
1693147	NM_001453.3(FOXC1):c.1141dup (p.Ala381fs)	Pathogenic
1693148	NM_001453.3(FOXC1):c.1193_1196dup (p.Met400fs)	Pathogenic
1693149	NM_001453.3(FOXC1):c.1430del (p.Gln477fs)	Pathogenic
1693150	NM_001453.3(FOXC1):c.1508del (p.Asn503fs)	Pathogenic
1693151	NM_001453.3(FOXC1):c.241T>C (p.Tyr81His)	Pathogenic
1693152	NM_001453.3(FOXC1):c.257T>G (p.Leu86Arg)	Pathogenic
1698748	NM_001453.3(FOXC1):c.99_108del (p.Gly34fs)	Pathogenic
1710332	NM_001453.3(FOXC1):c.161del (p.Glu54fs)	Pathogenic
1711928	NM_001453.3(FOXC1):c.392C>A (p.Ser131Ter)	Pathogenic
183252	NM_001453.3(FOXC1):c.1134_1144del (p.Gly380fs)	Pathogenic
2000743	NM_001453.3(FOXC1):c.208C>T (p.Gln70Ter)	Pathogenic

SpliceAI

8 predictions. Top by Δscore:

Variant	Effect	Δscore
6:1611749:C:CA	acceptor_gain	0.4400
6:1610090:G:GT	donor_gain	0.3700
6:1609984:A:AG	donor_gain	0.2500
6:1610106:G:GT	donor_gain	0.2400
6:1612632:A:AG	acceptor_gain	0.2200
6:1612633:G:GG	acceptor_gain	0.2200
6:1612634:T:G	acceptor_gain	0.2200
6:1610091:C:T	donor_gain	0.2000

AlphaMissense

3596 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:1610677:A:C	K78Q	1.000
6:1610677:A:G	K78E	1.000
6:1610678:A:C	K78T	1.000
6:1610678:A:T	K78M	1.000
6:1610679:G:C	K78N	1.000
6:1610679:G:T	K78N	1.000
6:1610680:C:A	P79T	1.000
6:1610680:C:G	P79A	1.000
6:1610680:C:T	P79S	1.000
6:1610681:C:A	P79Q	1.000
6:1610681:C:G	P79R	1.000
6:1610681:C:T	P79L	1.000
6:1610683:C:A	P80T	1.000
6:1610684:C:A	P80H	1.000
6:1610684:C:G	P80R	1.000
6:1610684:C:T	P80L	1.000
6:1610686:T:A	Y81N	1.000
6:1610686:T:C	Y81H	1.000
6:1610686:T:G	Y81D	1.000
6:1610687:A:C	Y81S	1.000
6:1610687:A:G	Y81C	1.000
6:1610689:A:C	S82R	1.000
6:1610689:A:T	S82C	1.000
6:1610690:G:A	S82N	1.000
6:1610690:G:T	S82I	1.000
6:1610691:C:A	S82R	1.000
6:1610691:C:G	S82R	1.000
6:1610692:T:A	Y83N	1.000
6:1610692:T:C	Y83H	1.000
6:1610692:T:G	Y83D	1.000

dbSNP variants (sampled 300 via entrez): RS1000269656 (6:1610804 A>C,G), RS1000853772 (6:1609970 A>G), RS1001005997 (6:1608790 G>A), RS1001095065 (6:1614178 C>T), RS1001370072 (6:1609860 C>T), RS1001542364 (6:1611693 C>T), RS1002267010 (6:1610404 T>G), RS1002797256 (6:1609581 G>A,C), RS1002963173 (6:1613334 A>G), RS1003323508 (6:1612445 G>A,C), RS1003769539 (6:1608275 G>A), RS1003802283 (6:1608620 G>A,T), RS1004428887 (6:1610200 C>T), RS1004481239 (6:1610339 C>G), RS1004656895 (6:1609707 A>AGGGCCGGGGCCC)

Disease associations

OMIM: gene MIM:601090 | disease phenotypes: MIM:602482, MIM:601631, MIM:610805, MIM:109200, MIM:109120, MIM:239711, MIM:180500, MIM:107250

GenCC curated gene-disease

Disease	Classification	Inheritance
Axenfeld-Rieger syndrome type 3	Definitive	Autosomal dominant
aniridia	Strong	Autosomal dominant
anterior segment dysgenesis 3	Strong	Autosomal dominant
isolated aniridia	Supportive	Autosomal dominant
Peters anomaly	Supportive	Autosomal dominant
Axenfeld-Rieger syndrome	Supportive	Autosomal dominant
Rieger anomaly	Supportive	Autosomal dominant
Axenfeld anomaly	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
FOXC1-related anterior segment dysgenesis	Definitive	AD

Mondo (15): Axenfeld-Rieger syndrome type 3 (MONDO:0011233), anterior segment dysgenesis 3 (MONDO:0024456), congenital anomaly of kidney and urinary tract (MONDO:0019719), alopecia, androgenetic, 1 (MONDO:0007184), Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities (MONDO:0007180), aniridia (MONDO:0019172), hypertelorism and tetralogy of fallot (MONDO:0009403), FOXC1-related anterior segment dysgenesis (MONDO:0100235), Axenfeld-Rieger syndrome (MONDO:0019187), anterior segment dysgenesis (MONDO:0019503), juvenile open angle glaucoma (MONDO:0020367), isolated aniridia (MONDO:0007119), Peters anomaly (MONDO:0011414), Rieger anomaly (MONDO:0019628), Axenfeld anomaly (MONDO:0020368)

Orphanet (7): Axenfeld-Rieger syndrome (Orphanet:782), Rieger anomaly (Orphanet:91483), Renal or urinary tract malformation (Orphanet:93545), Anterior segment developmental anomaly (Orphanet:88632), Juvenile glaucoma (Orphanet:98977), De Hauwere syndrome (Orphanet:1831), OBSOLETE: Aniridia (Orphanet:77)

HPO phenotypes

72 total (30 of 72 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000047	Hypospadias
HP:0000232	Everted lower lip vermilion
HP:0000272	Malar flattening
HP:0000316	Hypertelorism
HP:0000327	Hypoplasia of the maxilla
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000506	Telecanthus
HP:0000508	Ptosis
HP:0000518	Cataract
HP:0000520	Proptosis
HP:0000523	Subcapsular cataract
HP:0000526	Aniridia
HP:0000558	Rieger anomaly
HP:0000568	Microphthalmia
HP:0000572	Visual loss
HP:0000593	Abnormal anterior chamber morphology
HP:0000609	Optic nerve hypoplasia
HP:0000613	Photophobia
HP:0000627	Posterior embryotoxon
HP:0000639	Nystagmus
HP:0000642	Red-green dyschromatopsia
HP:0000659	Peters anomaly
HP:0000668	Hypodontia
HP:0000691	Microdontia
HP:0000864	Abnormality of the hypothalamus-pituitary axis

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST001291_3	Response to platinum-based agents	5.000000e-06
GCST003342_1	Glaucoma (primary open-angle)	2.000000e-10
GCST003342_4	Glaucoma (primary open-angle)	5.000000e-12
GCST003344_1	Glaucoma (high intraocular pressure)	3.000000e-08
GCST003477_1	Monobrow thickness	2.000000e-06
GCST003518_74	Daytime sleep phenotypes	2.000000e-06
GCST003518_8	Daytime sleep phenotypes	1.000000e-06
GCST003810_4	Non-response to citalopram or escitalopram and depression	9.000000e-07
GCST005194_217	Coronary artery disease	4.000000e-08
GCST005196_90	Coronary artery disease	2.000000e-08
GCST006066_8	Glaucoma (primary open-angle)	5.000000e-07
GCST006394_3	Intraocular pressure	3.000000e-22
GCST006395_38	Glaucoma	1.000000e-13
GCST006412_51	Intraocular pressure	2.000000e-28
GCST006624_40	Systolic blood pressure	4.000000e-14
GCST006979_485	Heel bone mineral density	2.000000e-12
GCST009722_13	Glaucoma (multi-trait analysis)	1.000000e-30
GCST009725_13	Intraocular pressure	4.000000e-22
GCST009726_21	Glaucoma	1.000000e-10
GCST010002_46	Refractive error	2.000000e-20
GCST010774_13	Essential hypertension (time to event)	3.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007828	daytime rest measurement
EFO:0004695	intraocular pressure measurement
EFO:0006335	systolic blood pressure
EFO:0009270	heel bone mineral density
EFO:0004918	age at diagnosis

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D015783	Aniridia	C11.250.060; C11.270.060; C11.941.375.060; C16.131.384.079; C16.320.290.078
C566234	Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (supp.)
C535679	Axenfeld-Rieger syndrome (supp.)
C566906	Cakut (supp.)
C538386	Hypertelorism and tetralogy of Fallot (supp.)
C535535	Iridogoniodysgenesis type1 (supp.)
C537884	Peters anomaly (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2338	FOXC1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, increases methylation	8
Benzo(a)pyrene	increases expression, increases methylation	5
Tretinoin	affects expression, increases expression	5
trichostatin A	affects cotreatment, increases expression	4
Estradiol	increases expression	4
bisphenol A	increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	increases expression, affects cotreatment	2
Cisplatin	increases expression, affects response to substance	2
Nickel	decreases expression	2
Smoke	decreases expression	2
Cyclosporine	decreases expression, decreases methylation, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
FR900359	increases phosphorylation	1
methylmercuric chloride	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects expression	1
perfluoro-n-nonanoic acid	increases expression	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
dorsomorphin	affects cotreatment, increases expression	1
eprenetapopt	affects expression, affects reaction	1
jinfukang	decreases expression	1

Cellosaurus cell lines

7 cell lines: 3 embryonic stem cell, 3 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A1X1	SEES3-1V human FOXC1, clone1	Embryonic stem cell	Male
CVCL_A1X2	SEES3-1V human FOXC1, clone2	Embryonic stem cell	Male
CVCL_A1X3	SEES3-1V human FOXC1, clone3	Embryonic stem cell	Male
CVCL_B1AU	Abcam HEK293 FOXC1 KO	Transformed cell line	Female
CVCL_B8GD	Abcam HCT 116 FOXC1 KO	Cancer cell line	Male
CVCL_B9IM	Abcam A-549 FOXC1 KO	Cancer cell line	Male
CVCL_D2F7	Abcam MCF-7 FOXC1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07396441	PHASE4	RECRUITING	Supplementary Kelulut Honey Therapy in Juvenile Open-Angle Glaucoma: Effects on IL-6, RNFL and Dry Eye
NCT02647359	PHASE2	COMPLETED	Study of Ataluren in Participants With Nonsense Mutation Aniridia
NCT04117880	PHASE2	WITHDRAWN	A Phase 2 Open Label Extension Study in Participants With Nonsense Mutation Aniridia
NCT05909735	PHASE1	COMPLETED	Treatment of LSCD With DM
NCT04115345	PHASE1	COMPLETED	A Study of a Renal Autologous Cell Therapy (REACT) in Patients With Chronic Kidney Disease (CKD) From Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
NCT05694169	PHASE1	TERMINATED	A Study of Participants With Chronic Kidney Disease Previously Treated With REACT
NCT05044598	PHASE1/PHASE2	COMPLETED	RAFT - Clinical Trial of RAFT for Aniridia Related Keratopathy
NCT00001161	Not specified	COMPLETED	Abnormalities of the Eye’s Anterior Chamber, Iris, Cornea and Lens
NCT00265590	Not specified	COMPLETED	Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia
NCT00503893	Not specified	UNKNOWN	Genetics of Wilms’ Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies
NCT00758108	Not specified	COMPLETED	Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
NCT00812708	Not specified	COMPLETED	Clinical Evaluation of Morcher Artificial Iris Diaphragms
NCT01644552	Not specified	COMPLETED	Positive Angle Kappa
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT02945176	Not specified	COMPLETED	Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation
NCT03461978	Not specified	COMPLETED	Ultrahigh-resolution Optical Coherence Tomography Imaging of the Anterior Eye Segment Structures
NCT03581864	Not specified	COMPLETED	Clinical Outcomes of Implantationof Black Diaphragm Intraocular Lens in Complete Aniridia and Aphakia Due to Posttraumatic Eye Rupture
NCT05390801	Not specified	RECRUITING	Congenital Aniridia Patient Questionnaire
NCT05400590	Not specified	RECRUITING	Comparison of the Healing Properties on Corneal Cells of Groth Factor-enriched Plasma and Autologous Serum From Aniridia Patients
NCT05562115	Not specified	COMPLETED	Proteomic Study of Tears From Patients With a PAX6 Mutation
NCT05954403	Not specified	RECRUITING	National Cohort on Congenital Defects of the Eye
NCT06412718	Not specified	UNKNOWN	Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
NCT06491615	Not specified	RECRUITING	National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
NCT04537364	Not specified	COMPLETED	Prediction of Renal Parenchymal Damage of CAKUT
NCT06921733	Not specified	RECRUITING	Ultrasound Localization Microscopy in Patient With Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
NCT05641103	Not specified	COMPLETED	PREDIGA 2: Spanish Acronym of Educational and Diagnostic Project for Gaucher and ASMD