PHRF1

Summary

PHRF1 (PHD and ring finger domains 1, HGNC:24351) is a protein-coding gene on chromosome 11p15.5, encoding PHD and RING finger domain-containing protein 1 (Q9P1Y6).

Predicted to enable RNA polymerase binding activity. Predicted to be involved in protein ubiquitination. Located in membrane.

Source: NCBI Gene 57661 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 435 total
• MANE Select transcript: NM_001286581

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24351
Approved symbol	PHRF1
Name	PHD and ring finger domains 1
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1542, PPP1R125
Ensembl gene	ENSG00000070047
Ensembl biotype	protein_coding
OMIM	611780
Entrez	57661

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 26 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000264555, ENST00000413872, ENST00000416188, ENST00000532550, ENST00000533464, ENST00000534320, ENST00000858730, ENST00000858731, ENST00000858732, ENST00000858733, ENST00000858734, ENST00000858735, ENST00000858736, ENST00000858737, ENST00000858738, ENST00000858739, ENST00000858740, ENST00000858741, ENST00000858742, ENST00000858743, ENST00000858744, ENST00000858745, ENST00000919858, ENST00000919859, ENST00000919860, ENST00000941191, ENST00000941192, ENST00000941193

RefSeq mRNA: 4 — MANE Select: NM_001286581 NM_001286581, NM_001286582, NM_001286583, NM_020901

CCDS: CCDS44507, CCDS65987, CCDS65988, CCDS65989

Canonical transcript exons

ENST00000264555 — 18 exons

Exon	Start	End
ENSE00001123591	592559	592674
ENSE00001123597	591384	591467
ENSE00001206357	581492	581606
ENSE00001290878	581962	582081
ENSE00001299618	587259	587464
ENSE00002200120	611634	612222
ENSE00003229130	597395	597570
ENSE00003251408	610501	610761
ENSE00003300765	601574	601701
ENSE00003328445	598373	598502
ENSE00003332020	596923	597020
ENSE00003333744	607066	609720
ENSE00003360442	610196	610347
ENSE00003415418	606442	606596
ENSE00003482215	610954	611082
ENSE00003526301	605605	605724
ENSE00003532776	605119	605300
ENSE00003845742	576470	576592

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 96.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.0747 / max 375.8485, expressed in 1820 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112220	24.5346	1820
112219	2.5400	1338

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	96.10	gold quality
granulocyte	CL:0000094	88.63	gold quality
right lobe of liver	UBERON:0001114	87.65	gold quality
apex of heart	UBERON:0002098	87.57	gold quality
skin of leg	UBERON:0001511	86.43	gold quality
lower esophagus mucosa	UBERON:0035834	86.36	gold quality
zone of skin	UBERON:0000014	85.99	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.94	gold quality
gastrocnemius	UBERON:0001388	85.76	gold quality
cerebellum	UBERON:0002037	85.69	gold quality
cerebellar hemisphere	UBERON:0002245	85.69	gold quality
cerebellar cortex	UBERON:0002129	85.63	gold quality
skin of abdomen	UBERON:0001416	85.51	gold quality
left adrenal gland cortex	UBERON:0035825	85.21	gold quality
muscle of leg	UBERON:0001383	85.15	gold quality
skeletal muscle organ	UBERON:0014892	85.11	gold quality
esophagus mucosa	UBERON:0002469	85.06	gold quality
left adrenal gland	UBERON:0001234	84.99	gold quality
hindlimb stylopod muscle	UBERON:0004252	84.96	gold quality
blood	UBERON:0000178	84.88	gold quality
right adrenal gland	UBERON:0001233	84.85	gold quality
liver	UBERON:0002107	84.73	gold quality
ventricular zone	UBERON:0003053	84.45	gold quality
esophagus	UBERON:0001043	84.39	gold quality
adrenal gland	UBERON:0002369	84.34	gold quality
mucosa of stomach	UBERON:0001199	84.29	gold quality
body of stomach	UBERON:0001161	84.28	gold quality
right adrenal gland cortex	UBERON:0035827	84.28	gold quality
spleen	UBERON:0002106	84.26	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	84.23	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.05

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting PHRF1, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-141-5P	99.57	67.86	897
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-4744	99.01	69.91	1581
HSA-MIR-3161	98.71	67.14	816
HSA-MIR-6501-3P	98.71	67.45	1480
HSA-MIR-6818-3P	98.56	68.23	1307
HSA-MIR-764	94.16	64.85	656
HSA-MIR-6763-3P	90.80	64.32	80
HSA-MIR-4258	90.68	62.19	164
HSA-MIR-196B-3P	85.79	67.95	91
HSA-MIR-5587-3P	82.90	60.79	138

Literature-anchored findings (GeneRIF, showing 7)

• study presents four new regions having genetic associations with systemic lupus erythematosus in women of European descent: ITGAM, KIAA1542, PXK and rs10798269 (PMID:18204446)
• we independently replicated the association of PHRF1 SNP rs4963128T with anti-Sm antibody recently reported in African- American populations, and also detected association with the presence of renal disorder. (PMID:22433914)
• The PHRF1 gene is deleted or silenced in a high proportion of human breast cancer samples and cancer cell lines. (PMID:23911286)
• Results suggest that PHRF1 may combine with H3K36 methylation and NBS1 to promote NHEJ and stabilize genomic integrity upon DNA damage insults. (PMID:25855964)
• Overexpression of PHRF1 attenuated the proliferation and tumorigenicity of non-small cell lung cancer cell lines. (PMID:27608840)
• Downregulation of a putative tumor suppressor gene PHRF1 in gastric and colorectal cancers. (PMID:32360246)
• PHRF1 Promotes Cell Invasion by Modulating SOX4 Expression in Colorectal Cancer HCT116-p53[-/-] Cells. (PMID:38030167)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	phrf1	ENSDARG00000075252
mus_musculus	Phrf1	ENSMUSG00000038611
rattus_norvegicus	Phrf1	ENSRNOG00000017299
drosophila_melanogaster	CG2926	FBGN0037344

Paralogs (2): SCAF1 (ENSG00000126461), SCAF11 (ENSG00000139218)

Protein

Protein identifiers

PHD and RING finger domain-containing protein 1 — Q9P1Y6 (reviewed: Q9P1Y6)

All UniProt accessions (3): Q9P1Y6, E9PJ24, F8WEF5

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with POLR2A (via the C-terminal domain).

Isoforms (3)

UniProt ID	Names	Canonical?
Q9P1Y6-1	1	yes
Q9P1Y6-2	2
Q9P1Y6-3	3

RefSeq proteins (4): NP_001273510, NP_001273511, NP_001273512, NP_065952 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR001965	Znf_PHD	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR019787	Znf_PHD-finger	Domain
IPR047157	PHRF1/Atg35	Family
IPR057031	SFR19-like_C	Domain

Pfam: PF00628, PF13639, PF23030

UniProt features (68 total): compositionally biased region 25, modified residue 22, region of interest 10, splice variant 3, sequence variant 3, zinc finger region 2, chain 1, coiled-coil region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P1Y6-F1	46.11	0.06

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 (22): 5, 330, 445, 455, 814, 845, 846, 864, 867, 915, 917, 936, 973, 991, 1124, 1128, 1202, 1229, 1359, 1360 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 78 (showing top): TATTATA_MIR374, MODULE_195, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, AACTGGA_MIR145, MODULE_356, GOMF_RNA_POLYMERASE_BINDING, ASH1L_TARGET_GENES, BARX1_TARGET_GENES, FEV_TARGET_GENES, GUCY1B1_TARGET_GENES, KAT2A_TARGET_GENES, MEF2D_TARGET_GENES, NAB2_TARGET_GENES, RBM34_TARGET_GENES, SKIL_TARGET_GENES

GO Biological Process (1): protein ubiquitination (GO:0016567)

GO Molecular Function (4): zinc ion binding (GO:0008270), RNA polymerase binding (GO:0070063), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein modification by small protein conjugation	1
transition metal ion binding	1
enzyme binding	1
binding	1
cation binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

878 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PHRF1	DNMT1	P26358	835
PHRF1	PXK	Q7Z7A4	821
PHRF1	BANK1	Q8NDB2	765
PHRF1	BLTP3A	Q6BDS2	657
PHRF1	IRF5	Q13568	648
PHRF1	PTPN22	Q9Y2R2	593
PHRF1	FAM167A	Q96KS9	578
PHRF1	TNFSF4	P23510	558
PHRF1	TNFAIP3	P21580	528
PHRF1	KAT5	Q92993	514
PHRF1	H3C1	P02295	509
PHRF1	H3-7	Q5TEC6	509
PHRF1	H3-5	Q6NXT2	508
PHRF1	H3C14	Q71DI3	508
PHRF1	H3-4	Q16695	507

IntAct

43 interactions, top by confidence:

A	B	Type	Score
POLR2J	POLR1C	psi-mi:“MI:0914”(association)	0.830
CSNK2A1	EIF3J	psi-mi:“MI:0914”(association)	0.810
CSNK2A2	EIF3J	psi-mi:“MI:0914”(association)	0.790
RPRD1B	POLR2D	psi-mi:“MI:0914”(association)	0.730
PHRF1	CSNK2B	psi-mi:“MI:0915”(physical association)	0.660
CSNK2B	RPS6KA5	psi-mi:“MI:0914”(association)	0.660
CSNK2B	NMT2	psi-mi:“MI:0914”(association)	0.660
CSNK2B	RPS6KA4	psi-mi:“MI:0914”(association)	0.640
CSNK2A2	PES1	psi-mi:“MI:0914”(association)	0.640
N	RBM47	psi-mi:“MI:0914”(association)	0.530
RPL13	RRP8	psi-mi:“MI:0914”(association)	0.530
PPP1CA	PHRF1	psi-mi:“MI:0407”(direct interaction)	0.440
PHRF1	H1-2	psi-mi:“MI:0915”(physical association)	0.400
PHRF1	KTN1	psi-mi:“MI:0915”(physical association)	0.400
AGPAT2	PHRF1	psi-mi:“MI:0915”(physical association)	0.370
DLST		psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
N	RBM47	psi-mi:“MI:0914”(association)	0.350
LIN28A	MEX3A	psi-mi:“MI:0914”(association)	0.350
AIRIM	DDX39A	psi-mi:“MI:0914”(association)	0.350
SRSF6	U2SURP	psi-mi:“MI:0914”(association)	0.350
JMJD6	U2SURP	psi-mi:“MI:0914”(association)	0.350

BioGRID (242): PHRF1 (Affinity Capture-MS), HIST3H3 (Affinity Capture-Western), PHRF1 (Protein-peptide), PHRF1 (Affinity Capture-Western), NBN (Affinity Capture-Western), XRCC6 (Affinity Capture-Western), XRCC5 (Affinity Capture-Western), PHRF1 (Proximity Label-MS), PHRF1 (Affinity Capture-MS), PHRF1 (Affinity Capture-MS), PHRF1 (Affinity Capture-MS), PHRF1 (Affinity Capture-MS), PHRF1 (Affinity Capture-MS), PHRF1 (Affinity Capture-MS), PHRF1 (Reconstituted Complex)

ESM2 similar proteins: A0A1B0GTI1, A2BIL8, A5PKK9, C5DY61, E2QSX5, E7F555, O35147, O43151, P11805, P19416, P24940, P27579, Q06616, Q17QE3, Q1LZE2, Q1RMQ5, Q1T763, Q28CW2, Q2HR82, Q2TBN9, Q3B8E9, Q3ZBS1, Q567C6, Q5RDK8, Q62417, Q68FW2, Q6AY26, Q6DFB0, Q6P6I6, Q6PKN7, Q80U49, Q86YL5, Q8C3W1, Q8QVM1, Q8VEB3, Q8VI59, Q96FT9, Q96GV9, Q96GY3, Q99618

Diamond homologs: A0A1W2PPD8, A1A5Q5, A1YVX4, A2A8L1, A2AUY4, A2BIL7, A6H619, A8DZJ1, A9LMC0, B2RXH2, B7ZS37, B9RU15, C0SUT9, D3ZD32, F4I240, F4I6G4, F4KIX0, O16102, O43918, O64752, O75164, O88379, O94953, O97159, P29375, P39956, P41228, P41229, P41230, P56163, P58268, P58269, P58270, Q03833, Q09477, Q10RP4, Q12873, Q14839, Q22516, Q23541

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	PHRF1	ubiquitination
PHRF1	“down-regulates quantity by destabilization”	PARP1	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 49 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
Maturation of hRSV A proteins	5	95.2×	1e-07
mRNA Splicing	8	22.0×	1e-07
Processing of Capped Intron-Containing Pre-mRNA	9	18.5×	1e-07
mRNA Polyadenylation	8	17.6×	7e-07
mRNA Splicing - Major Pathway	10	13.7×	1e-07
Metabolism of RNA	9	9.4×	2e-05
Dengue Virus-Host Interactions	6	6.8×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
RNA splicing	7	13.7×	1e-04
mRNA splicing, via spliceosome	6	12.2×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	350
Likely benign	56
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

3660 predictions. Top by Δscore:

Variant	Effect	Δscore
11:576590:CGGGT:C	donor_loss	1.0000
11:576591:GG:G	donor_gain	1.0000
11:576592:GG:G	donor_gain	1.0000
11:576593:G:GG	donor_gain	1.0000
11:587257:A:AG	acceptor_gain	1.0000
11:587258:G:GG	acceptor_gain	1.0000
11:587462:AAGGT:A	donor_loss	1.0000
11:587463:AG:A	donor_gain	1.0000
11:587463:AGGTG:A	donor_loss	1.0000
11:587464:GG:G	donor_gain	1.0000
11:587464:GGTG:G	donor_loss	1.0000
11:587465:G:GG	donor_gain	1.0000
11:587465:GTG:G	donor_loss	1.0000
11:587466:T:G	donor_loss	1.0000
11:591378:TCACA:T	acceptor_loss	1.0000
11:591379:CACAG:C	acceptor_loss	1.0000
11:591380:ACAGA:A	acceptor_loss	1.0000
11:591381:CA:C	acceptor_loss	1.0000
11:591382:A:AG	acceptor_gain	1.0000
11:591382:AGAA:A	acceptor_loss	1.0000
11:591383:G:GG	acceptor_gain	1.0000
11:591383:GA:G	acceptor_gain	1.0000
11:591383:GAAT:G	acceptor_gain	1.0000
11:591465:AAGG:A	donor_loss	1.0000
11:591468:GT:G	donor_loss	1.0000
11:591469:T:G	donor_loss	1.0000
11:592555:CTA:C	acceptor_loss	1.0000
11:592556:TAG:T	acceptor_loss	1.0000
11:592557:A:AG	acceptor_gain	1.0000
11:592557:AGA:A	acceptor_loss	1.0000

AlphaMissense

10663 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:587366:T:C	C108R	1.000
11:587456:T:A	W138R	1.000
11:587456:T:C	W138R	1.000
11:587458:G:C	W138C	1.000
11:587458:G:T	W138C	1.000
11:591396:T:C	C145R	1.000
11:611009:T:A	I1578N	1.000
11:611683:T:C	L1619P	1.000
11:587368:C:G	C108W	0.999
11:587375:T:C	C111R	0.999
11:587377:T:G	C111W	0.999
11:587435:T:C	C131R	0.999
11:587444:T:C	C134R	0.999
11:587445:G:A	C134Y	0.999
11:587446:C:G	C134W	0.999
11:591397:G:A	C145Y	0.999
11:591398:T:G	C145W	0.999
11:592610:T:A	C186S	0.999
11:592610:T:C	C186R	0.999
11:592611:G:A	C186Y	0.999
11:592611:G:C	C186S	0.999
11:592612:T:G	C186W	0.999
11:592650:T:C	L199S	0.999
11:592655:T:C	C201R	0.999
11:596936:T:C	C212R	0.999
11:596975:T:A	W225R	0.999
11:596975:T:C	W225R	0.999
11:596977:G:C	W225C	0.999
11:596977:G:T	W225C	0.999
11:610985:C:A	A1570D	0.999

dbSNP variants (sampled 300 via entrez): RS1000036067 (11:612527 A>G), RS1000077051 (11:592863 C>T), RS1000317201 (11:589326 C>G,T), RS1000394613 (11:612502 C>G), RS1000422060 (11:579505 C>T), RS1000522084 (11:582311 C>G,T), RS1000548615 (11:609849 G>A,T), RS1000562186 (11:575924 T>A,G), RS1000576549 (11:609991 G>A), RS1000729373 (11:606741 C>T), RS1000735190 (11:602040 C>T), RS1000903612 (11:594360 C>A), RS1000928940 (11:590090 G>A), RS1001056652 (11:591763 T>C), RS1001083074 (11:575497 G>A)

Disease associations

OMIM: gene MIM:611780 | disease phenotypes: MIM:610717, MIM:142623

GenCC curated gene-disease

Mondo (2): neutral lipid storage myopathy (MONDO:0012545), Hirschsprung disease (MONDO:0018309)

Orphanet (2): Neutral lipid storage disease with myopathy (Orphanet:98908), Hirschsprung disease (Orphanet:388)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST000142_3	Systemic lupus erythematosus	3.000000e-10
GCST000996_19	Systemic lupus erythematosus	4.000000e-06
GCST003155_11	Systemic lupus erythematosus	9.000000e-10
GCST004867_40	Systemic lupus erythematosus	5.000000e-09
GCST005562_2	Rheumatoid arthritis	4.000000e-06
GCST010002_229	Refractive error	1.000000e-08

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D006627	Hirschsprung Disease	C06.198.439; C06.405.469.158.701.439; C16.131.314.439

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	3
Air Pollutants	affects cotreatment, affects expression, affects oxidation, increases abundance	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Ozone	affects cotreatment, affects expression, affects oxidation, increases abundance	2
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
alpha-pinene	affects cotreatment, affects expression, affects oxidation, increases abundance	1
lead acetate	increases expression	1
methylparaben	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
aflatoxin B2	decreases methylation	1
cupric chloride	increases expression	1
methacrylaldehyde	affects cotreatment, affects expression, affects oxidation, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
perfluoro-n-nonanoic acid	decreases expression	1
ICG 001	decreases expression	1
Sunitinib	increases expression	1
Acrolein	affects expression, affects oxidation, increases abundance, affects cotreatment	1
Caffeine	affects phosphorylation	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Quercetin	decreases phosphorylation	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Dronabinol	increases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	increases expression	1
Volatile Organic Compounds	affects oxidation, affects cotreatment, affects expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_XR59	HAP1 PHRF1 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02343562	PHASE4	UNKNOWN	Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis
NCT07186647	PHASE4	COMPLETED	Laparoscopic-Assisted Transanal Pull-Through for Hirschsprung Disease in Pediatric:Short and Intermediate Outcomes of Two Different Techniques
NCT03660176	PHASE3	UNKNOWN	Effects of Butyrate Enemas on Postoperative Intestinal Mobility Disorders in Hirschsprung’s Disease
NCT04904081	PHASE3	UNKNOWN	Feasibility of Use of Indocyanine Green in Pediatric Colorectal Surgery
NCT00630838	PHASE2	COMPLETED	Probiotic Prophylaxis of Hirschprung’s Disease Associated Enterocolitis (HAEC)
NCT02830763	Not specified	TERMINATED	Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M
NCT00671684	PHASE1/PHASE2	UNKNOWN	Endoscopic Mucosal Resection (EMR) for Diagnosis of Hirschsprung’s Disease
NCT01985646	EARLY_PHASE1	COMPLETED	A Trial on Conservative Treatment for Infants’ Hirschsprung Disease
NCT00478712	Not specified	RECRUITING	Hirschsprung Disease Genetic Study
NCT01515501	Not specified	COMPLETED	Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial)
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01927809	Not specified	UNKNOWN	Genetic Mosaicism in Hirschsprung’s Disease
NCT02193685	Not specified	UNKNOWN	Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease
NCT02216994	Not specified	UNKNOWN	A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis –a Prospective Study
NCT02296008	Not specified	COMPLETED	3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders
NCT02776176	Not specified	UNKNOWN	Enhanced Recovery After Surgery In Hirschsprung Disease
NCT02857205	Not specified	COMPLETED	MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung’s Associated EnteroColitis
NCT03269812	Not specified	UNKNOWN	Laparoscopic Assisted Pull-through Versus Other Surgical Procedures for Treatment of Hirschsprung Disease
NCT03406741	Not specified	COMPLETED	Neuropsychological Development and Functional Outcome Sin Children With Hirschsprung Disease at School Age
NCT03626350	Not specified	ACTIVE_NOT_RECRUITING	Prospective Evaluation of the Efficacy and Safety of Submucosal Endoscopy
NCT03666767	Not specified	COMPLETED	Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries
NCT04020939	Not specified	COMPLETED	The Role of Indocyanine Green Angiography Fluorescence on Intestinal Resections in Pediatric Surgery.
NCT04106947	Not specified	UNKNOWN	Transition of Care for Patients With Hirschsprung Disease and Anorectal Malformations
NCT04149093	Not specified	UNKNOWN	The Association Between Calretinin and the Function of Ganglion Cells in Hirschsprung Disease
NCT04150120	Not specified	COMPLETED	eHealth as an Aid for Facilitating and Supporting Self-management in Families With Long-term Childhood Illness
NCT04213976	Not specified	UNKNOWN	Ostomy in Continuity or Conventional Ileostomy: a Retrospective Multicentric Analysis
NCT04476225	Not specified	COMPLETED	Induced Pluripotent Stem Cells for Disease Research
NCT04598841	Not specified	COMPLETED	Nutrition Support for Hirschsprung Disease
NCT04622410	Not specified	RECRUITING	Registry for Hirschsprung Disease of the BELAPS
NCT04624334	Not specified	TERMINATED	Non-invasive Assessment of Colonic Motility
NCT04713085	Not specified	COMPLETED	Sacral Neuromodulation in Children and Adolescents
NCT04730128	Not specified	COMPLETED	Translation and Validation of a Disease-specific Questionnaire for Hirschsprung’s Disease in Danish Patients
NCT04837963	Not specified	COMPLETED	Does Hirschsprung Disease Increase the Risk of Febrile Urinary Tract Infection in Children
NCT04957667	Not specified	COMPLETED	Scintigraphic Defecography for Evaluation of Functional Outcome in an Adult Hirschsprung Population
NCT05038345	Not specified	TERMINATED	Hirschsprung Disease Trends in the United States: Analysis of the National Inpatient Sample
NCT05044741	Not specified	COMPLETED	Risk Factors of Perforated HSCR in Neonates
NCT05293353	Not specified	UNKNOWN	Neokare Safety and Tolerability Assessment in Neonates With GI Problems
NCT05307419	Not specified	UNKNOWN	Full Thickness vs. Rectal Suction Biopsy in the Diagnosis of Hirschsprungs Disease
NCT05450991	Not specified	RECRUITING	Long-term Qualitative and Quantitative Outcomes of Children With Hirschsprung’s Disease and Anorectal Malformations
NCT05655845	Not specified	UNKNOWN	Risk Factors for Bowel Dysfunction at Preschool and Early Childhood Age in Children With Hirschsprung Disease