C22orf39

Summary

C22orf39 (chromosome 22 open reading frame 39, HGNC:27012) is a protein-coding gene on chromosome 22q11.21, encoding Synaptic plasticity regulator PANTS (Q6P5X5). Negatively regulates long-term potentiation and modulates adult synaptic plasticity.

Predicted to be involved in negative regulation of long-term synaptic potentiation. Located in mitochondrion.

Source: NCBI Gene 128977 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 15 total — 6 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_173793

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27012
Approved symbol	C22orf39
Name	chromosome 22 open reading frame 39
Location	22q11.21
Locus type	gene with protein product
Status	Approved
Aliases	MGC74441, Pants
Ensembl gene	ENSG00000242259
Ensembl biotype	protein_coding
Entrez	128977

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay

ENST00000399562, ENST00000399568, ENST00000509549, ENST00000856305

RefSeq mRNA: 2 — MANE Select: NM_173793 NM_001166242, NM_173793

CCDS: CCDS33599, CCDS54498

Canonical transcript exons

ENST00000399562 — 3 exons

Exon	Start	End
ENSE00001494520	19440886	19444390
ENSE00003531772	19447378	19447545
ENSE00003708298	19447665	19447711

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 95.34.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1218 / max 2.8766, expressed in 47 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193151	30.9424	1821
193152	0.1218	47

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	95.34	gold quality
muscle of leg	UBERON:0001383	94.87	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.66	gold quality
tibialis anterior	UBERON:0001385	92.59	gold quality
skeletal muscle tissue	UBERON:0001134	92.24	gold quality
deltoid	UBERON:0001476	92.21	gold quality
anterior cingulate cortex	UBERON:0009835	92.02	gold quality
quadriceps femoris	UBERON:0001377	91.93	gold quality
vastus lateralis	UBERON:0001379	91.79	gold quality
amygdala	UBERON:0001876	91.79	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.72	gold quality
muscle tissue	UBERON:0002385	91.65	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.61	gold quality
lower esophagus	UBERON:0013473	91.58	gold quality
muscle layer of sigmoid colon	UBERON:0035805	91.58	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.12	gold quality
heart left ventricle	UBERON:0002084	91.11	gold quality
endothelial cell	CL:0000115	91.06	gold quality
biceps brachii	UBERON:0001507	91.04	gold quality
cardiac ventricle	UBERON:0002082	90.86	gold quality
ventricular zone	UBERON:0003053	90.79	gold quality
left ventricle myocardium	UBERON:0006566	90.79	silver quality
cardiac muscle of right atrium	UBERON:0003379	90.71	silver quality
right frontal lobe	UBERON:0002810	90.69	gold quality
Brodmann (1909) area 9	UBERON:0013540	90.63	gold quality
tibial artery	UBERON:0007610	90.50	gold quality
popliteal artery	UBERON:0002250	90.49	gold quality
myocardium	UBERON:0002349	90.49	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	90.44	gold quality
spinal cord	UBERON:0002240	90.31	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.87
E-MTAB-7606	no	604.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

41 targeting C22orf39, 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-8485	100.00	77.57	4731
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-6814-5P	99.03	66.68	1273
HSA-MIR-491-3P	98.88	68.86	1224
HSA-MIR-26B-3P	98.71	67.49	1102
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-6776-3P	98.38	66.34	655
HSA-MIR-5088-3P	98.29	66.63	1310
HSA-MIR-6882-3P	98.23	67.01	1119
HSA-MIR-891A-3P	98.05	67.99	970
HSA-MIR-1245B-3P	98.01	68.91	1387
HSA-MIR-876-5P	97.99	68.49	1345

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-51h9.6	ENSDARG00000092360
mus_musculus	2510002D24Rik	ENSMUSG00000071632
drosophila_melanogaster	CG15908	FBGN0033085

Protein

Protein identifiers

Synaptic plasticity regulator PANTS — Q6P5X5 (reviewed: Q6P5X5)

Alternative names: Plasticity-associated neural transcript short

All UniProt accessions (2): E0CX16, Q6P5X5

UniProt curated annotations — full annotation on UniProt →

Function. Negatively regulates long-term potentiation and modulates adult synaptic plasticity. Stabilizes the interaction of RTN4 isoform A/Nogo-A with its receptors, inhibiting clustering of postsynaptic AMPA receptors at synaptic sites. Upon neuronal stimulation, degraded at synapses, reducing RTN4 signaling and allowing AMPA receptor clustering at individual synapses.

Subunit / interactions. Interacts with RTN4 isoform A/Nogo-A; the interaction results in enhanced RTN4-mediated inhibition of AMPA receptor clustering. Also interacts with NCAM1, RANBP2 and CCT8.

Subcellular location. Synapse. Synaptic cleft.

Post-translational modifications. Rapidly degraded by proteolysis following neuronal stimulation, resulting in increased AMPA receptor clustering.

Similarity. Belongs to the UPF0545 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6P5X5-1	1	yes
Q6P5X5-2	2

RefSeq proteins (2): NP_001159714, NP_776154* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021475	Pants/Emi1-like	Family

Pfam: PF11326

UniProt features (2 total): chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P5X5-F1	89.97	0.75

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 85 (showing top): STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_SYNAPTIC_PLASTICITY, MARTINEZ_RB1_TARGETS_DN, GOBP_SYNAPTIC_SIGNALING, GOBP_LONG_TERM_SYNAPTIC_POTENTIATION, GOBP_REGULATION_OF_LONG_TERM_SYNAPTIC_POTENTIATION, GOBP_POSITIVE_REGULATION_OF_SYNAPTIC_TRANSMISSION, GOCC_SYNAPSE, STARK_HYPPOCAMPUS_22Q11_DELETION_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_D, GOBP_REGULATION_OF_TRANS_SYNAPTIC_SIGNALING, GOBP_NEGATIVE_REGULATION_OF_LONG_TERM_SYNAPTIC_POTENTIATION, GOCC_SYNAPTIC_CLEFT

GO Biological Process (2): regulation of synaptic plasticity (GO:0048167), negative regulation of long-term synaptic potentiation (GO:1900272)

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

GO Cellular Component (4): mitochondrion (GO:0005739), synaptic cleft (GO:0043083), synapse (GO:0045202), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
modulation of chemical synaptic transmission	1
regulation of biological quality	1
negative regulation of biological process	1
long-term synaptic potentiation	1
regulation of long-term synaptic potentiation	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
extracellular region	1
cell junction	1

Protein interactions and networks

STRING

466 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C22orf39	GNB1L	Q9BYB4	586
C22orf39	ATP23	Q9Y6H3	570
C22orf39	L3MBTL4	Q8NA19	490
C22orf39	TRMT2A	Q8IZ69	480
C22orf39	DGCR6L	Q9BY27	478
C22orf39	PIGBOS1	A0A0B4J2F0	466
C22orf39	RHNO1	Q9BSD3	466
C22orf39	RWDD2A	Q9UIY3	463
C22orf39	GPM6A	P51674	461
C22orf39	MEAK7	Q6P9B6	433
C22orf39	SEPTIN5	Q99719	433
C22orf39	LYRM9	A8MSI8	428
C22orf39	ZNF74	Q16587	419
C22orf39	MBLAC2	Q68D91	418
C22orf39	TANGO2	Q6ICL3	418

IntAct

162 interactions, top by confidence:

A	B	Type	Score
C22orf39	CEP76	psi-mi:“MI:0915”(physical association)	0.720
CEP76	C22orf39	psi-mi:“MI:0915”(physical association)	0.720
	C22orf39	psi-mi:“MI:0915”(physical association)	0.560
C22orf39	BANP	psi-mi:“MI:0915”(physical association)	0.560
RBPMS	C22orf39	psi-mi:“MI:0915”(physical association)	0.560
C22orf39	MDFI	psi-mi:“MI:0915”(physical association)	0.560
C22orf39		psi-mi:“MI:0915”(physical association)	0.560
BANP	C22orf39	psi-mi:“MI:0915”(physical association)	0.560
C22orf39	RBPMS	psi-mi:“MI:0915”(physical association)	0.560
MDFI	C22orf39	psi-mi:“MI:0915”(physical association)	0.560
C22orf39	TNS2	psi-mi:“MI:0915”(physical association)	0.560
C22orf39	KRTAP5-6	psi-mi:“MI:0915”(physical association)	0.560
C22orf39	ARSA	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-9	C22orf39	psi-mi:“MI:0915”(physical association)	0.560
C22orf39	ZNF620	psi-mi:“MI:0915”(physical association)	0.560
CABP2	C22orf39	psi-mi:“MI:0915”(physical association)	0.560
TNS2	C22orf39	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-6	C22orf39	psi-mi:“MI:0915”(physical association)	0.560
ARSA	C22orf39	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (51): C22orf39 (Two-hybrid), C22orf39 (Two-hybrid), C22orf39 (Two-hybrid), C22orf39 (Two-hybrid), KRTAP10-3 (Two-hybrid), C22orf39 (Two-hybrid), CEP76 (Two-hybrid), C22orf39 (Affinity Capture-RNA), C22orf39 (Two-hybrid), C22orf39 (Two-hybrid), C22orf39 (Two-hybrid), C22orf39 (Two-hybrid), C22orf39 (Two-hybrid), C22orf39 (Two-hybrid), C22orf39 (Two-hybrid)

ESM2 similar proteins: A0A0U1RR11, A0A0U1RRI6, A0A8I5KY20, A1L515, B7Z1M9, F1SAM7, O18734, O88995, P0CG25, P0DPI3, P22083, P34131, Q0IIA6, Q0X0E2, Q2M3D2, Q2MJR0, Q2TA57, Q2TAM9, Q3B7L1, Q3SZ70, Q3U595, Q5RE30, Q5SZI1, Q5TM19, Q5U4P2, Q659K9, Q673H1, Q6P5X5, Q6P6N5, Q7Z736, Q80VU4, Q861W0, Q86UD0, Q8C0R7, Q8CG70, Q8IUW3, Q8IVL6, Q8QZV0, Q8R2H1, Q8VCE9

Diamond homologs: A2BD89, Q0P3X7, Q3SZ70, Q3U595, Q5RE30, Q6P5X5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 50 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
Keratinization	7	11.5×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	1
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
1684555	GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1	Pathogenic
1703641	GRCh37/hg19 22q11.21(chr22:18916842-21798907)	Pathogenic
1707626	GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1	Pathogenic
1708200	GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1	Pathogenic
1711557	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3	Pathogenic
523273	GRCh37/hg19 22q11.21(chr22:18894835-20311763)	Pathogenic
4279113	GRCh37/hg19 22q11.21(chr22:19154608-19938011)x1	Likely pathogenic

SpliceAI

5286 predictions. Top by Δscore:

Variant	Effect	Δscore
22:19351445:CC:C	acceptor_gain	1.0000
22:19351446:CC:C	acceptor_gain	1.0000
22:19351447:C:T	acceptor_gain	1.0000
22:19353352:TCAC:T	donor_loss	1.0000
22:19353353:CACCT:C	donor_loss	1.0000
22:19353354:A:C	donor_loss	1.0000
22:19353355:C:T	donor_loss	1.0000
22:19353355:CCTT:C	donor_gain	1.0000
22:19353515:CCGAG:C	acceptor_gain	1.0000
22:19353516:CGAG:C	acceptor_gain	1.0000
22:19353516:CGAGC:C	acceptor_gain	1.0000
22:19353517:GAG:G	acceptor_gain	1.0000
22:19353520:C:CC	acceptor_gain	1.0000
22:19353530:C:CT	acceptor_gain	1.0000
22:19355862:CTTC:C	acceptor_gain	1.0000
22:19359331:CTTA:C	donor_loss	1.0000
22:19359332:TTAC:T	donor_loss	1.0000
22:19359334:A:C	donor_loss	1.0000
22:19359335:CCAG:C	donor_gain	1.0000
22:19359389:C:A	donor_gain	1.0000
22:19361342:C:CC	acceptor_gain	1.0000
22:19361932:C:CA	acceptor_loss	1.0000
22:19375626:CCTA:C	donor_loss	1.0000
22:19375628:TA:T	donor_loss	1.0000
22:19375789:CATA:C	acceptor_gain	1.0000
22:19375793:C:CC	acceptor_gain	1.0000
22:19385516:CTCAC:C	donor_loss	1.0000
22:19385517:TCA:T	donor_loss	1.0000
22:19385518:CA:C	donor_loss	1.0000
22:19385519:A:AG	donor_loss	1.0000

AlphaMissense

917 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:19447435:C:A	W82C	0.974
22:19447435:C:G	W82C	0.974
22:19444298:C:A	W132C	0.963
22:19444298:C:G	W132C	0.963
22:19447405:C:A	W92C	0.963
22:19447405:C:G	W92C	0.963
22:19444328:C:A	W122C	0.959
22:19444328:C:G	W122C	0.959
22:19447510:C:A	W57C	0.940
22:19447510:C:G	W57C	0.940
22:19444330:A:G	W122R	0.930
22:19444330:A:T	W122R	0.930
22:19447460:C:A	G74V	0.929
22:19447437:A:G	W82R	0.927
22:19447437:A:T	W82R	0.927
22:19444300:A:G	W132R	0.925
22:19444300:A:T	W132R	0.925
22:19444320:C:A	R125M	0.920
22:19447415:C:G	C89S	0.915
22:19447416:A:T	C89S	0.915
22:19447415:C:T	C89Y	0.913
22:19444319:C:A	R125S	0.912
22:19444319:C:G	R125S	0.912
22:19447502:C:G	C60S	0.912
22:19447503:A:T	C60S	0.912
22:19447426:G:C	D85E	0.910
22:19447426:G:T	D85E	0.910
22:19447427:T:C	D85G	0.910
22:19447524:A:G	Y53H	0.908
22:19447427:T:A	D85V	0.907

dbSNP variants (sampled 300 via entrez): RS1000975672 (22:19447109 C>G), RS1001204812 (22:19446706 CTT>C,CT,CTTT), RS1001476759 (22:19447266 T>C,G), RS1001502549 (22:19440796 A>G,T), RS1001843126 (22:19448726 A>G), RS1001992173 (22:19442542 G>C), RS1002213818 (22:19447599 G>A,T), RS1002428219 (22:19442945 A>G), RS1002512076 (22:19446338 C>T), RS1002539807 (22:19442266 G>A), RS1003236558 (22:19448753 G>T), RS1003288750 (22:19449118 C>A,T), RS1003826650 (22:19446004 T>A,C), RS1004467157 (22:19446364 A>C), RS1004902426 (22:19446620 T>C,G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:188400, MIM:167500, MIM:603047

GenCC curated gene-disease

Mondo (3): DiGeorge syndrome (MONDO:0008564), congenital velopharyngeal incompetence (MONDO:0008180), astigmatism (MONDO:0011284)

Orphanet (3): 22q11.2 deletion syndrome (Orphanet:567), Syndromic anorectal malformation (Orphanet:117573), Congenital velopharyngeal incompetence (Orphanet:2291)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000483	Astigmatism

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D001251	Astigmatism	C11.744.212
D004062	DiGeorge Syndrome	C05.660.207.103.500; C14.240.400.021.500; C14.280.400.044.500; C15.604.451.249.500; C16.131.077.019.500; C16.131.240.400.021.500; C16.131.260.019.500; C16.131.482.249.500; C16.131.621.207.103.500; C16.320.180.019.500; C19.642.482.500.500
D014681	Velopharyngeal Insufficiency	C07.465.525.955; C07.550.966; C07.650.525.955; C09.775.955; C16.131.850.525.955

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	7
trichostatin A	affects cotreatment, decreases expression	3
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sulforaphane	decreases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Catechin	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Thiram	decreases expression	1
1-Methyl-3-isobutylxanthine	increases expression, affects cotreatment	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	decreases 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_C0QN	HEK Flp-In T-REx-293-C22orf39-KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00770094	PHASE4	UNKNOWN	Multi Laser Platform Comparison Study for LASIK
NCT00821236	PHASE4	COMPLETED	Contralateral Comparison of Three Excimer Laser Systems in Performing LASIK
NCT00825513	PHASE4	COMPLETED	Safety and Effectiveness of the Akreos Toric Intraocular Lens.
NCT01018797	PHASE4	COMPLETED	Intrastromal Corneal Ring for High Astigmatism on Postkeratoplasty
NCT01279031	PHASE4	COMPLETED	Randomized Comparison of the Abbott WHITESTAR Signature System With Ellips Tranversal Ultrasound vs. the Alcon Infiniti With the Ozil Torsional Handpiece in Phacoemulsification: A Contralaterally-Controlled Trial
NCT01396616	PHASE4	UNKNOWN	Clinical Evaluation of Toric Intraocular Lens Made by Aurolab
NCT01454843	PHASE4	COMPLETED	LASIK Using the Alcon Allegretto Wavefront-Guided Excimer Laser vs AMO Visx Wavefront-Guided Excimer Laser
NCT01554761	PHASE4	UNKNOWN	Effect of Posterior Corneal Toricity on Refractive Outcome of Pseudophakia
NCT01885780	PHASE4	COMPLETED	Prospective Evaluation of the Effectiveness of the Femtosecond Laser-assisted Refractive Astigmatic Keratotomy.
NCT04208750	PHASE4	COMPLETED	Clinical Investigation of the Vision-R800 Device.
NCT04283331	PHASE4	UNKNOWN	Anesthetic Impregnated Bandage Soft Contact Lens (BSCL) in Pain Management After Photorefractive Keratectomy (PRK)
NCT04321226	PHASE4	UNKNOWN	Femtosecond Laser-assisted Astigmatism Treatment
NCT04418986	PHASE4	COMPLETED	Incisional Correction of Corneal Astigmatism During Phacoemulsification
NCT07140653	PHASE4	RECRUITING	Arcuate Incisions With Light Adjustable Lens for Astigmatism Correction in Lens Surgery
NCT00395538	PHASE3	TERMINATED	Effects of PTH Replacement on Bone in Hypoparathyroidism
NCT00000123	PHASE3	COMPLETED	The Berkeley Orthokeratology Study
NCT00663923	PHASE3	COMPLETED	Comparison of Cross-cylinder and Conventional Photorefractive Keratectomy(PRK) in Correcting Medium-high Astigmatism
NCT00928122	PHASE3	UNKNOWN	Intrastromal Correction of Ametropia by a Femtosecond Laser
NCT01673503	PHASE3	COMPLETED	A Prospective Study of Femtosecond Laser Intracorneal Lensectomi
NCT05247658	PHASE3	TERMINATED	Use of a Disk of Amniotic Membrane (Visio-AMTRIX) in Postoperative Care After PKR
NCT00576407	PHASE2	COMPLETED	Thymus Transplantation in DiGeorge Syndrome #668
NCT00576836	PHASE2	COMPLETED	Thymus Transplantation Dose in DiGeorge #932
NCT01821781	PHASE2	ACTIVE_NOT_RECRUITING	Immune Disorder HSCT Protocol
NCT05149898	PHASE2	COMPLETED	Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)
NCT07284641	PHASE2	RECRUITING	Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
NCT00566488	PHASE1	COMPLETED	Parathyroid and Thymus Transplantation in DiGeorge #931
NCT00579709	PHASE1	COMPLETED	Thymus Transplantation With Immunosuppression
NCT00849888	PHASE1	TERMINATED	Serum-Free Thymus Transplantation in DiGeorge Anomaly
NCT02895906	PHASE1	COMPLETED	Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions
NCT06896357	PHASE1	NOT_YET_RECRUITING	Effectiveness and Safety of Limbal Relaxing Incisions for Correcting Post Phacoemulsification High Astigmatism
NCT00579527	PHASE1/PHASE2	COMPLETED	Phase I/II Thymus Transplantation With Immunosuppression #950
NCT00004351	Not specified	COMPLETED	Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
NCT00005102	Not specified	UNKNOWN	Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
NCT00105274	Not specified	COMPLETED	Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
NCT00278005	Not specified	TERMINATED	Infection in DiGeorge Following CHD Surgery
NCT00556530	Not specified	RECRUITING	Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
NCT00916955	Not specified	COMPLETED	Genetic Modifiers for 22q11.2 Syndrome
NCT01220531	Not specified	COMPLETED	Thymus Transplantation Safety-Efficacy
NCT01781923	Not specified	COMPLETED	Cognitive Remediation in 22q11DS
NCT02381457	Not specified	COMPLETED	SNP-based Microdeletion and Aneuploidy RegisTry (SMART)