ORPHA:314376
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Also known as: Meconium ileus due to guanylate cyclase 2C deficiency
Publications
3
15.2th percentile
Trials
5
Interventional, condition-specific
Researchers
20
Distinct authors in sample
Gene link
GUCY2C
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, , gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013843
- OMIM:614665
- UMLS:C4518781
Additional Mondo synonyms (3)
GUCY2C meconium ileus · meconium ileus caused by mutation in GUCY2C · meconium ileus due to guanylate cyclase 2C deficiency
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.
- Gene identifiedPresent
Definitive — GUCY2C
- LiteraturePresent
3 matched papers (3 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 trialPresent
5 matched on ClinicalTrials.gov (3 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?
Yes — we know a specific gene responsible (GUCY2C).
GenCC classification: Definitive.
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?
3
3 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
3 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).
3 in the last 10 years · high confidence · 15.2th percentile (publications denominator)
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
20
Distinct author names in 3 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.
- 01Ceyhan-Birsoy O2 papers · 2017
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.
Papers in Europe PMC - 02
- 03
- 04Bose A1 paper · 2022
Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India.
Papers in Europe PMC - 05Elpeleg O1 paper · 2021
Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Papers in Europe PMC - 06Gershon Naamat S1 paper · 2021
Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Papers in Europe PMC - 07
- 08Harel T1 paper · 2021
Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. tamarhe@hadassah.org.il.
Papers in Europe PMC - 09
- 10Lebo MS1 paper · 2017
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
5
interventional trials for this specific condition
5 interventional trials matched this specific condition name; 3 currently recruiting in our sample.
Data as of 27 July 2026
5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).
high confidence · 87.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
5 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07417488·RECRUITING·GUCY2C Prime-Boost Vaccination for Advanced Colorectal and Small Bowel Adenocarcinomas
Conditions: Colorectal Cancer · Small Bowel Adenocarcinoma·Matched via recall expansion
- NCT05779917·RECRUITING·Mesothelin/GPC3/GUCY2C-CAR-T Cells Against Cancers
Conditions: Pancreas Cancer · CAR-T Cell Therapy · Mesothelin · Solid Tumor, Adult·Matched via recall expansion
- NCT03198052·RECRUITING·GPC3/Mesothelin/Claudin18.2/GUCY2C/B7-H3/PSCA/PSMA/MUC1/TGFβ/HER2/Lewis-Y/AXL/EGFR-CAR-T Cells Against Cancers
Conditions: Lung Cancer · Cancer · Immunotherapy · CAR-T Cell·Matched via recall expansion
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.
"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency" OR "Meconium ileus due to guanylate cyclase 2C deficiency" OR "GUCY2C meconium ileus" OR "meconium ileus caused by mutation in GUCY2C"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency" OR "Meconium ileus due to guanylate cyclase 2C deficiency" OR "GUCY2C meconium ileus" OR "meconium ileus caused by mutation in GUCY2C" OR "GUCY2C"
Recall-expansion terms: GUCY2C
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 5 interventional · 0 observational · 0 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
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 2026-07-27T13:05:37.849Z