Imperforate anus

Summary

Imperforate anus (MONDO:0001046) is a disease with 9 cohort genes and 18 clinical trials. Top therapeutic interventions include indocyanine green acid form.

At a glance

• Cohort genes: 9
• ClinVar variants: 10
• Clinical trials: 18

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	imperforate anus
Mondo ID	MONDO:0001046
MeSH	D001006
OMIM	207500, 301800
DOID	DOID:10488
ICD-10-CM	Q42.3
ICD-11	290678165, 515168801
NCIT	C84784
SNOMED CT	204731006
UMLS	C0003466
MedGen	1997
GARD	0006769
NORD	1299
Is cancer (heuristic)	no

Also known as: anal atresia · anal stenosis · anorectal malformations · anus, imperforate · congenital atresia of anus · imperforate anus

Data availability: 10 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › digestive system disorder › intestinal disorder › large intestine disorder › rectal disorder › anus disorder › imperforate anus

Related subtypes (6): anorectal stricture, anal spasm, anus neoplasm, proctitis, levator syndrome, anal polyp

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

10 retrieved; paginated sample, class counts are floors:

6 uncertain significance, 2 likely pathogenic, 1 pathogenic/likely pathogenic, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
638672	GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138)	IGLL5	Pathogenic	no assertion criteria provided
11520	NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	MED12	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
523403	NM_001904.4(CTNNB1):c.1876G>T (p.Glu626Ter)	CTNNB1	Likely pathogenic	criteria provided, single submitter
1804004	NM_001395002.1(MAP4K4):c.3458_3459del (p.Val1153fs)	MAP4K4	Likely pathogenic	criteria provided, single submitter
2570675	NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)	CUL9	Uncertain significance	criteria provided, single submitter
2570677	NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)	CUL9	Uncertain significance	criteria provided, single submitter
638675	GRCh37/hg19 15q12(chr15:27462869-27544157)	GABRG3	Uncertain significance	no assertion criteria provided
1338794	NM_002941.4(ROBO1):c.1400C>T (p.Ala467Val)	ROBO1	Uncertain significance	criteria provided, multiple submitters, no conflicts
638673	GRCh37/hg19 2q12.1(chr2:103090517-103148433)	SLC9A4	Uncertain significance	no assertion criteria provided
638674	GRCh37/hg19 7q34(chr7:139478979-139550968)	TBXAS1	Uncertain significance	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 19 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ROBO1	Orphanet:95496	Pituitary stalk interruption syndrome
TBXAS1	Orphanet:1802	Ghosal hematodiaphyseal dysplasia
MED12	Orphanet:1415	Hardikar syndrome
MED12	Orphanet:293707	Blepharophimosis-intellectual disability syndrome, MKB type
MED12	Orphanet:776	Lujan-Fryns syndrome
MED12	Orphanet:777	X-linked non-syndromic intellectual disability
MED12	Orphanet:93932	FG syndrome type 1
CTNNB1	Orphanet:1501	Adrenocortical carcinoma
CTNNB1	Orphanet:210159	Adult hepatocellular carcinoma
CTNNB1	Orphanet:2780	Osteopathia striata-cranial sclerosis syndrome
CTNNB1	Orphanet:33402	Pediatric hepatocellular carcinoma
CTNNB1	Orphanet:404473	Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
CTNNB1	Orphanet:54595	Craniopharyngioma
CTNNB1	Orphanet:569248	Microcystic stromal tumor
CTNNB1	Orphanet:689430	Adenoid ameloblastoma
CTNNB1	Orphanet:873	Desmoid tumor
CTNNB1	Orphanet:891	Familial exudative vitreoretinopathy
CTNNB1	Orphanet:91414	Pilomatrixoma
CTNNB1	Orphanet:952	Acrofacial dysostosis, Weyers type

Cohort genes → proteins

9 cohort genes, 9 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	9

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ROBO1	HGNC:10249	ENSG00000169855	Q9Y6N7	Roundabout homolog 1	clinvar
SLC9A4	HGNC:11077	ENSG00000180251	Q6AI14	Sodium/hydrogen exchanger 4	clinvar
TBXAS1	HGNC:11609	ENSG00000059377	P24557	Thromboxane-A synthase	clinvar
MED12	HGNC:11957	ENSG00000184634	Q93074	Mediator of RNA polymerase II transcription subunit 12	clinvar
CUL9	HGNC:15982	ENSG00000112659	Q8IWT3	Cullin-9	clinvar
CTNNB1	HGNC:2514	ENSG00000168036	P35222	Catenin beta-1	clinvar
IGLL5	HGNC:38476	ENSG00000254709	B9A064	Immunoglobulin lambda-like polypeptide 5	clinvar
GABRG3	HGNC:4088	ENSG00000182256	Q99928	Gamma-aminobutyric acid receptor subunit gamma-3	clinvar
MAP4K4	HGNC:6866	ENSG00000071054	O95819	Mitogen-activated protein kinase kinase kinase kinase 4	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ROBO1	Roundabout homolog 1	Receptor for SLIT1 and SLIT2 that mediates cellular responses to molecular guidance cues in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuro…
SLC9A4	Sodium/hydrogen exchanger 4	Electroneutral antiporter that exchanges sodium for protons or ammonium ions at the basolateral membrane of epithelia to regulate cell volume and intracellular pH upon hypertonic conditions.
TBXAS1	Thromboxane-A synthase	Catalyzes the conversion of prostaglandin H2 (PGH2) to thromboxane A2 (TXA2), a potent inducer of blood vessel constriction and platelet aggregation.
MED12	Mediator of RNA polymerase II transcription subunit 12	Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes.
CUL9	Cullin-9	Core component of a Cul9-RING ubiquitin-protein ligase complex composed of CUL9 and RBX1.
CTNNB1	Catenin beta-1	Key downstream component of the canonical Wnt signaling pathway.
GABRG3	Gamma-aminobutyric acid receptor subunit gamma-3	Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain.
MAP4K4	Mitogen-activated protein kinase kinase kinase kinase 4	Serine/threonine kinase that plays a role in the response to environmental stress and cytokines such as TNF.

Protein-family classification

Druggable: 3 · Difficult: 1 · Unknown: 5 · Druggable fraction: 0.33

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Antibody/Immunoglobulin	2	6.5×	0.144
Kinase	1	3.1×	0.563
Other/Unknown	5	1.0×	0.687
Transcription factor	1	0.9×	0.687

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ROBO1	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, FN3_dom
SLC9A4	Other/Unknown	no		NHE-2/4, NaH_exchanger, Cation/H_exchanger_TM
TBXAS1	Other/Unknown	no		Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
MED12	Other/Unknown	no		Mediator_Med12, Mediator_Med12_catenin-bd, Mediator_Med12_LCEWAV
CUL9	Transcription factor	no		Znf_RING, IBR_dom, APC_su10/DOC_dom
CTNNB1	Other/Unknown	no		Armadillo, ARM-like, Beta-catenin
IGLL5	Antibody/Immunoglobulin	yes		Ig/MHC_CS, Ig_C1-set, Ig-like_dom
GABRG3	Other/Unknown	no		GABRG-1/4, GABBAg3_rcpt, GABAA/Glycine_rcpt
MAP4K4	Kinase	yes		Prot_kinase_dom, CNH_dom, Ser/Thr_kinase_AS

Expression context

Cohort genes with no expression data: 0.

9 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	9
unknown	0

Top tissues across cohort

Tissue	Cohort genes
ganglionic eminence	2
ventricular zone	2
male germ line stem cell (sensu Vertebrata) in testis	2
right testis	2
cortical plate	2
tibia	1
body of stomach	1
stomach	1
leukocyte	1
monocyte	1
mononuclear cell	1
left ovary	1
right adrenal gland	1
right adrenal gland cortex	1
left testis	1
right frontal lobe	1
adrenal tissue	1
periodontal ligament	1
bone marrow cell	1
duodenum	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ROBO1	287	ubiquitous	marker	ventricular zone, ganglionic eminence, tibia
SLC9A4	67	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, stomach, body of stomach
TBXAS1	180	ubiquitous	marker	monocyte, mononuclear cell, leukocyte
MED12	281	ubiquitous	marker	right adrenal gland cortex, right adrenal gland, left ovary
CUL9	275	ubiquitous	marker	right testis, left testis, right frontal lobe
CTNNB1	295	ubiquitous	marker	adrenal tissue, ventricular zone, periodontal ligament
IGLL5	117	tissue_specific	marker	duodenum, rectum, bone marrow cell
GABRG3	115	broad	marker	male germ line stem cell (sensu Vertebrata) in testis, cortical plate, right testis
MAP4K4	295	ubiquitous	marker	C1 segment of cervical spinal cord, cortical plate, ganglionic eminence

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CTNNB1	15,668
MED12	3,322
ROBO1	2,359
IGLL5	2,327
TBXAS1	2,072
MAP4K4	1,975
CUL9	1,551
GABRG3	1,126
SLC9A4	808

Intra-cohort edges

A	B	Sources
CTNNB1	MED12	string_interaction

Structural data

PDB: 6 · AlphaFold-only: 3 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CTNNB1	P35222	50
MAP4K4	O95819	18
ROBO1	Q9Y6N7	12
CUL9	Q8IWT3	4
MED12	Q93074	3
IGLL5	B9A064	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TBXAS1	P24557	91.50
GABRG3	Q99928	75.44
SLC9A4	Q6AI14	66.73

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 98. Enrichment computed across 9 evidence-associated genes (8 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 8 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Defective TBXAS1 causes GHDD	1	1427.5×	0.038	TBXAS1
SLIT2:ROBO1 increases RHOA activity	1	356.9×	0.038	ROBO1
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production	1	285.5×	0.038	CTNNB1
Regulation of cortical dendrite branching	1	285.5×	0.038	ROBO1
CDH11 homotypic and heterotypic interactions	1	203.9×	0.038	CTNNB1
Inactivation of CDC42 and RAC1	1	178.4×	0.038	ROBO1
Regulation of CDH19 Expression and Function	1	178.4×	0.038	CTNNB1
Sodium/Proton exchangers	1	158.6×	0.038	SLC9A4
Role of ABL in ROBO-SLIT signaling	1	158.6×	0.038	ROBO1
InlA-mediated entry of Listeria monocytogenes into host cells	1	158.6×	0.038	CTNNB1
Binding of TCF/LEF:CTNNB1 to target gene promoters	1	142.8×	0.038	CTNNB1
RUNX3 regulates WNT signaling	1	142.8×	0.038	CTNNB1
Apoptotic cleavage of cell adhesion proteins	1	129.8×	0.038	CTNNB1
Regulation of CDH11 function	1	129.8×	0.038	CTNNB1
Eicosanoids	1	119.0×	0.038	TBXAS1
Regulation of commissural axon pathfinding by SLIT and ROBO	1	119.0×	0.038	ROBO1
Regulation of CDH1 Function	1	119.0×	0.038	CTNNB1
Metabolic disorders of biological oxidation enzymes	1	109.8×	0.038	TBXAS1
Activation of RAC1	1	102.0×	0.038	ROBO1
Formation of axial mesoderm	1	102.0×	0.038	CTNNB1
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)	1	95.2×	0.038	TBXAS1
Signaling by GSK3beta mutants	1	95.2×	0.038	CTNNB1
CTNNB1 S33 mutants aren’t phosphorylated	1	95.2×	0.038	CTNNB1
CTNNB1 S37 mutants aren’t phosphorylated	1	95.2×	0.038	CTNNB1
CTNNB1 S45 mutants aren’t phosphorylated	1	95.2×	0.038	CTNNB1
CTNNB1 T41 mutants aren’t phosphorylated	1	95.2×	0.038	CTNNB1
Cytochrome P450 - arranged by substrate type	1	89.2×	0.038	TBXAS1
Formation of definitive endoderm	1	89.2×	0.038	CTNNB1
Beta-catenin phosphorylation cascade	1	84.0×	0.038	CTNNB1
Germ layer formation at gastrulation	1	84.0×	0.038	CTNNB1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 9 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
embryonic brain development	2	178.3×	0.012	MED12, CTNNB1
glial cell fate determination	1	1872.4×	0.013	CTNNB1
canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation	1	1872.4×	0.013	CTNNB1
cranial ganglion development	1	1872.4×	0.013	CTNNB1
neural plate development	1	936.2×	0.013	CTNNB1
negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	1	936.2×	0.013	CTNNB1
chemorepulsion involved in postnatal olfactory bulb interneuron migration	1	936.2×	0.013	ROBO1
regulation of centriole-centriole cohesion	1	936.2×	0.013	CTNNB1
negative regulation of mitotic cell cycle, embryonic	1	936.2×	0.013	CTNNB1
regulation of timing of anagen	1	936.2×	0.013	CTNNB1
positive regulation of branching involved in lung morphogenesis	1	936.2×	0.013	CTNNB1
renal vesicle formation	1	936.2×	0.013	CTNNB1
renal inner medulla development	1	936.2×	0.013	CTNNB1
renal outer medulla development	1	936.2×	0.013	CTNNB1
nephron tubule formation	1	936.2×	0.013	CTNNB1
regulation of nephron tubule epithelial cell differentiation	1	936.2×	0.013	CTNNB1
mesenchymal stem cell differentiation	1	936.2×	0.013	CTNNB1
positive regulation of determination of dorsal identity	1	936.2×	0.013	CTNNB1
positive regulation of ARF protein signal transduction	1	624.1×	0.013	MAP4K4
astrocyte-dopaminergic neuron signaling	1	624.1×	0.013	CTNNB1
regulation of fibroblast proliferation	1	624.1×	0.013	CTNNB1
negative regulation of negative chemotaxis	1	624.1×	0.013	ROBO1
oviduct development	1	624.1×	0.013	CTNNB1
lung induction	1	624.1×	0.013	CTNNB1
positive regulation of epithelial cell proliferation involved in prostate gland development	1	624.1×	0.013	CTNNB1
fungiform papilla formation	1	624.1×	0.013	CTNNB1
regulation of centromeric sister chromatid cohesion	1	624.1×	0.013	CTNNB1
axis elongation involved in somitogenesis	1	624.1×	0.013	MED12
MAPK cascade	2	34.0×	0.013	CTNNB1, MAP4K4
regulation of secondary heart field cardioblast proliferation	1	468.1×	0.014	CTNNB1

Therapeutics

Drug target analysis

Approved (phase 4): 4 · Phase ≥3: 4 · Phased (≥1): 5 · Undrugged: 4

Druggability breadth: 6 of 9 evidence-associated genes (67%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
TBXAS1	CLOTRIMAZOLE
CTNNB1	DITHIAZANINE IODIDE
GABRG3	ENZALUTAMIDE
MAP4K4	PONATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MAP4K4	62	4
TBXAS1	46	4
GABRG3	15	4
CTNNB1	4	4
MED12	1	2
ROBO1	0	0
SLC9A4	0	0
CUL9	0	0
IGLL5	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
CLOTRIMAZOLE	4	TBXAS1
CISPLATIN	4	TBXAS1
SAQUINAVIR	4	TBXAS1
AMPRENAVIR	4	TBXAS1
OZAGREL	4	TBXAS1
GRAMICIDIN	4	TBXAS1
ROSIGLITAZONE	4	TBXAS1
SULCONAZOLE	4	TBXAS1
OXICONAZOLE	4	TBXAS1
KETOCONAZOLE	4	TBXAS1
VINBLASTINE	4	TBXAS1
RITONAVIR	4	TBXAS1
NIFEDIPINE	4	TBXAS1
BITHIONOL	4	TBXAS1
3,3’,4’,5-TETRACHLOROSALICYLANILIDE	4	TBXAS1
TROGLITAZONE	4	TBXAS1
DIETHYLSTILBESTROL	4	TBXAS1
SULFASALAZINE	4	TBXAS1
TROVAFLOXACIN	4	TBXAS1
ERGOTAMINE	4	TBXAS1
AMINOGLUTETHIMIDE	4	TBXAS1
HEXACHLOROPHENE	4	TBXAS1
TANNIC ACID	4	TBXAS1
NELFINAVIR	4	TBXAS1
INDOMETHACIN	4	TBXAS1
ZAFIRLUKAST	4	TBXAS1
MONTELUKAST	4	TBXAS1
ECONAZOLE	4	TBXAS1
TAMOXIFEN	4	TBXAS1
MICONAZOLE	4	TBXAS1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
MAP4K4	407	Binding:400, ADMET:5, Functional:1, Toxicity:1
CTNNB1	361	Binding:358, Functional:3
TBXAS1	210	Binding:138, Functional:72
GABRG3	191	Binding:172, Functional:15, Toxicity:3, ADMET:1
MED12	6	Binding:6
CUL9	2	Binding:2

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
TBXAS1	210
CTNNB1	361
GABRG3	191
MAP4K4	407

Pharmacogenomics

Cohort genes with a PharmGKB record: 9; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
CLOTRIMAZOLE	4	TBXAS1
CISPLATIN	4	TBXAS1
SAQUINAVIR	4	TBXAS1
AMPRENAVIR	4	TBXAS1
OZAGREL	4	TBXAS1
GRAMICIDIN	4	TBXAS1
ROSIGLITAZONE	4	TBXAS1
SULCONAZOLE	4	TBXAS1
OXICONAZOLE	4	TBXAS1
KETOCONAZOLE	4	TBXAS1
VINBLASTINE	4	TBXAS1
RITONAVIR	4	TBXAS1
NIFEDIPINE	4	TBXAS1
BITHIONOL	4	TBXAS1
3,3’,4’,5-TETRACHLOROSALICYLANILIDE	4	TBXAS1
TROGLITAZONE	4	TBXAS1
DIETHYLSTILBESTROL	4	TBXAS1
SULFASALAZINE	4	TBXAS1
TROVAFLOXACIN	4	TBXAS1
ERGOTAMINE	4	TBXAS1
AMINOGLUTETHIMIDE	4	TBXAS1
HEXACHLOROPHENE	4	TBXAS1
TANNIC ACID	4	TBXAS1
NELFINAVIR	4	TBXAS1
INDOMETHACIN	4	TBXAS1
ZAFIRLUKAST	4	TBXAS1
MONTELUKAST	4	TBXAS1
ECONAZOLE	4	TBXAS1
TAMOXIFEN	4	TBXAS1
MICONAZOLE	4	TBXAS1

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	4	TBXAS1, CTNNB1, GABRG3, MAP4K4
B	Phased (≥1) drug, not yet approved	1	MED12
C	Druggable family + PDB, no drug	2	ROBO1, IGLL5
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	2	SLC9A4, CUL9

Undrugged target profiles

4 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
ROBO1	0	—
SLC9A4	0	—
CUL9	2	—
IGLL5	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 18.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	17
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04904081	PHASE3	UNKNOWN	Feasibility of Use of Indocyanine Green in Pediatric Colorectal Surgery
NCT05450991	Not specified	RECRUITING	Long-term Qualitative and Quantitative Outcomes of Children With Hirschsprung’s Disease and Anorectal Malformations
NCT07029984	Not specified	RECRUITING	Baylor Continence Scale Validity in Anorectal Malformation
NCT07366476	Not specified	NOT_YET_RECRUITING	Effectiveness of Electrical Stimulation and Biofeedback on Fecal Incontinence in Children With Repaired Anorectal Malformation
NCT07438691	Not specified	RECRUITING	Outcomes in ARMs: Comparison Between Surgical Techniques in Patients With Perineal or Vestibular Fistula - a Multicenter Italian Study
NCT00883571	Not specified	COMPLETED	Comparative Study of the House Advancement Flap, Rhomboid Flap, and Y-V Anoplasty
NCT04106947	Not specified	UNKNOWN	Transition of Care for Patients With Hirschsprung Disease and Anorectal Malformations
NCT04710433	Not specified	COMPLETED	Non-invasive Sacral Nerve Stimulation in Children and Adolescents With Chronic Constipation
NCT04713085	Not specified	COMPLETED	Sacral Neuromodulation in Children and Adolescents
NCT04901819	Not specified	COMPLETED	Longterm Outcomes of Individuals With Anorectal Malformations
NCT05045560	Not specified	COMPLETED	Study of Antenatal and Postnatal Data of Anorectal Malformations Diagnosed at Montpellier University Hospital Over a 10-year Period (2010-2020)
NCT05293353	Not specified	UNKNOWN	Neokare Safety and Tolerability Assessment in Neonates With GI Problems
NCT05621629	Not specified	COMPLETED	Management of FI After Surgery of ARM
NCT05749406	Not specified	UNKNOWN	Parental Attitudes to Neoanus Dilatations Post-reconstruction in Anorectal Malformations
NCT06065995	Not specified	TERMINATED	StoMakker Mobile Application
NCT06234020	Not specified	COMPLETED	Frequency of Vertebrospinal Anomalies in Patients Presenting With Anorectal Malformations
NCT06860906	Not specified	COMPLETED	V-Y Flap for Anal Stenosis
NCT07099339	Not specified	COMPLETED	Effect of Pudendal Nerve Electrical Stimulation on Fecal Incontinence in Children With Repaired Anorectal Malformation

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
INDOCYANINE GREEN ACID FORM	4	2