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ORPHA:388

Hirschsprung disease

low confidenceDisorder

Also known as: Aganglionic megacolon · Colonic aganglionosis · Congenital intestinal aganglionosis · HSCR

Publications

13,413

Trials

45

Interventional, condition-specific

Researchers

1,038

Distinct authors in sample

Gene link

NRG1

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

Hirschsprung disease susceptibility · Hirschsprung's disease · aganglionic megacolon · congenital intestinal aganglionosis · congenital megacolon · pelvirectal achalasia

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Moderate — NRG1

  2. LiteraturePresent

    13,413 matched papers (5,225 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    45 matched on ClinicalTrials.gov (7 recruiting in sample)

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?

Probably — there is moderate evidence for NRG1.

GenCC classification: Moderate.

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?

13,413

13,413 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

13,413 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).

5,225 in the last 10 years · low confidence

Phrase hits: 13,413 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,038

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Wester T10 papers · 2026

    European Reference Network for Rare Inherited and Congenital Anomalies (ERNICA), Rotterdam, The Netherlands.

    Papers in Europe PMC
  2. 02
    Stenström P8 papers · 2026

    Department of Clinical Sciences, Pediatrics, Faculty of Medicine, Lund University, 221 00 Lund, Sweden; Department of Pediatric Surgery, Skåne University Hospital, Lasarettsgatan 48, 221 85 Lund, Sweden.

    Papers in Europe PMC
  3. 03
    Bjørnland K7 papers · 2026

    European Reference Network for Rare Inherited and Congenital Anomalies (ERNICA), Rotterdam, The Netherlands.

    Papers in Europe PMC
  4. 04
    Li Q6 papers · 2026

    Department of General Surgery, Capital Institute of Pediatrics Affiliated Children's Hospital, Beijing 100020, China; Research Unit of Minimally Invasive Pediatric Surgery on Diagnosis and Treatment (2021RU015), Chinese Academy of Medical Sciences, Beijing 100005, China. Electronic address: l817@sina.com.

    Papers in Europe PMC
  5. 05
    Wang J6 papers · 2026

    Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, People's Republic of China.

    Papers in Europe PMC
  6. 06
    Wang Y6 papers · 2026

    Department of Pediatric Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, Hubei Province, China. wangyf188@sohu.com.

    Papers in Europe PMC
  7. 07
    Löf Granström A5 papers · 2026

    Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

    Papers in Europe PMC
  8. 08
    Zhang X5 papers · 2026

    Department of General Surgery, Capital Medical University Affiliated Beijing Children's Hospital Baoding Hospital, Baoding, Hebei, China.

    Papers in Europe PMC
  9. 09
    Zhang Y5 papers · 2026

    Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China; Clinical and Research Center for Hirschsprung Disease, Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China; Guangdong Provincial Children's Medical Research Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China; Department of Neonatal Surgery, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China. Electronic address: yannizy@gwcmc.org.

    Papers in Europe PMC
  10. 10
    Chen Y4 papers · 2026

    Department of Pediatric Surgery, KK Women's and Children's Hospital, 100 Bukit Timah Road 229899, Singapore.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

45

interventional trials for this specific condition

45 interventional trials matched this specific condition name; 7 currently recruiting in our sample.

Data as of 27 July 2026

45 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.8th percentile).

low confidence · 96.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

45 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

33 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 2026-07-26

This 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.

"Hirschsprung disease" OR "Aganglionic megacolon" OR "Colonic aganglionosis" OR "Congenital intestinal aganglionosis" OR "Hirschsprung disease susceptibility" OR "Hirschsprung's disease" OR "congenital megacolon" OR "pelvirectal achalasia"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Hirschsprung disease" OR "Aganglionic megacolon" OR "Colonic aganglionosis" OR "Congenital intestinal aganglionosis" OR "Hirschsprung disease susceptibility" OR "Hirschsprung's disease" OR "congenital megacolon" OR "pelvirectal achalasia" OR "NRG1"

Recall-expansion terms: NRG1

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 45 interventional · 33 observational · 2 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HSCR

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:40:00.193Z