ORPHA:436252
Combined immunodeficiency-multiple intestinal atresia
Also known as: CID-MIA/early-onset IBD
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,072
Trials
0
Interventional, condition-specific
Researchers
1,237
Distinct authors in sample
Gene link
TTC7A
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.
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:0800030
- MONDO:0030831
- OMIM:243150
- UMLS:C5968858
- UMLS:C5234880
Additional Mondo synonyms (5)
FIPA · MINAT · familial intestinal polyatresia syndrome · multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency · hereditary multiple intestinal atresia
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — TTC7A
- LiteraturePresent
1,072 matched papers (568 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?
Yes — we know a specific gene responsible (TTC7A).
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?
1,072
1,072 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.
1,072 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).
568 in the last 10 years · low confidence
Phrase hits: 1,072 · MeSH hits: 0
Who's working on it?
1,237
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.
- 01Li Y6 papers · 2026
State Key Laboratory of Natural and Biomimetic Drugs, School of Pharmaceutical Sciences, Peking University, Beijing 100191, China.
Papers in Europe PMC - 02Wang Z6 papers · 2025
Fujian Provincial Key Laboratory of Screening for Novel Microbial Products, Fujian Institute of Microbiology, Fuzhou, Fujian 350007, China.
Papers in Europe PMC - 03Zhang X6 papers · 2026
Institute of Physiological Chemistry and Pathobiochemistry and Cells-in-Motion Interfaculty Centre (CIMIC), University of Muenster, 48149 Muenster, Germany.
Papers in Europe PMC - 04Liu J4 papers · 2026
School of Graduate Education, Shandong Sport University, Jinan, Shandong, China.
Papers in Europe PMC - 05Wang J4 papers · 2023
Department of Chemistry & Maurice Morton Institute of Polymer Science, The University of Akron, Akron, Ohio 44325, United States.
Papers in Europe PMC - 06Chen Y3 papers · 2025
Laboratory of Fish Molecular Immunology, College of Fisheries and Life Science, Shanghai Ocean University, Shanghai, China.
Papers in Europe PMC - 07Guo Q3 papers · 2025
School of Geography and Environment, Liaocheng University, Liaocheng 252000, China.
Papers in Europe PMC - 08He Z3 papers · 2025
School of Geography and Environment, Liaocheng University, Liaocheng 252000, China.
Papers in Europe PMC - 09Liu H3 papers · 2026
School of Pharmacy, Yantai University, Yantai 264005, China.
Papers in Europe PMC - 10Wang L3 papers · 2026
Department of Nephrology, Clinical Research Center of Kidney Disease in Sichuan Province, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu 610072, China.
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.
low 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.
Broader category multiple intestinal atresia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: multiple intestinal atresia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Combined immunodeficiency-multiple intestinal atresia" OR "CID-MIA/early-onset IBD" OR "MINAT" OR "familial intestinal polyatresia syndrome" OR "multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency" OR "hereditary multiple intestinal atresia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Combined immunodeficiency-multiple intestinal atresia" OR "CID-MIA/early-onset IBD" OR "MINAT" OR "familial intestinal polyatresia syndrome" OR "multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency" OR "hereditary multiple intestinal atresia" OR "TTC7A" OR "gastrointestinal defect and immunodeficiency syndrome"
Recall-expansion terms: TTC7A, gastrointestinal defect and immunodeficiency syndrome
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"multiple intestinal atresia"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: FIPA
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (1072) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T16:10:18.014Z