ORPHA:1198
Colonic atresia
Publications
664
83.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,062
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Colonic atresia is a intestinal resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010562
- MeSH:C562562
- OMIM:303650
- UMLS:C0266190
- NCIT:C101024
Additional Mondo synonyms (5)
atresia of colon · colon atresia · colonic atresia · colonic atresia (disease) · congenital atresia of colon
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
664 matched papers (277 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
664
664 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
664 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
277 in the last 10 years · high confidence · 83.6th percentile (publications denominator)
Phrase hits: 664 · MeSH hits: 0
Who's working on it?
1,062
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Derikx JPM4 papers · 2023
Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Papers in Europe PMC - 02Musters GD4 papers · 2023
Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 03Abdel-Latif M3 papers · 2017
Pediatric Surgery Division, Helwan University, Egypt.
Papers in Europe PMC - 04de Jonge WJ3 papers · 2023
Tytgat Institute for Liver and Intestinal Research, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 05Eeftinck Schattenkerk LD3 papers · 2023
Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 06Feldkamp ML3 papers · 2026
Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.
Papers in Europe PMC - 07Lodhia J3 papers · 2024
Department of General Surgery, Kilimanjaro Christian Medical Centre, P O Box 3010, Moshi, Tanzania; Kilimanjaro Christian Medical University College, Faculty of Medicine, P O Box 2240, Moshi, Tanzania. Electronic address: jaylodhia06@gmail.com.
Papers in Europe PMC - 08Msuya D3 papers · 2024
Department of General Surgery, Kilimanjaro Christian Medical Centre, P O Box 3010, Moshi, Tanzania; Kilimanjaro Christian Medical University College, Faculty of Medicine, P O Box 2240, Moshi, Tanzania.
Papers in Europe PMC - 09Singh S3 papers · 2026
Vanderbilt University Medical Center, Nashville, United States.
Papers in Europe PMC - 10van Heurn LWE3 papers · 2023
Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Colonic atresia" OR "atresia of colon" OR "atresia of the colon" OR "colon atresia" OR "colonic atresia (disease)" OR "congenital atresia of colon" OR "congenital atresia of the colon"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Colonic atresia" OR "atresia of colon" OR "atresia of the colon" OR "colon atresia" OR "colonic atresia (disease)" OR "congenital atresia of colon" OR "congenital atresia of the colon"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T16:39:59.918Z