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ORPHA:436252

Combined immunodeficiency-multiple intestinal atresia

low confidenceDisorder

Also known as: CID-MIA/early-onset IBD

Publications

1,605

Trials

0

Interventional, condition-specific

Researchers

1,237

Distinct authors in sample

Gene link

TTC7A

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

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

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — TTC7A

  2. LiteraturePresent

    1,605 matched papers (1,013 in last 10 years) Source

  3. Phenotype characterisedPresent

    103 HPO annotations (e.g. Autoimmunity; Autoimmune hemolytic anemia; Intestinal obstruction) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

103

Associated phenotypes · MONDO:0800030

  • Autoimmunity
  • Autoimmune hemolytic anemia
  • Intestinal obstruction
  • Polyhydramnios
  • Thrombocytosis

Showing 5 of 103 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,605

1,605 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=3967) is 59.

1,605 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,013 in the last 10 years · low confidence

Phrase hits: 1,072 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Li Y6 papers · 2026

    State Key Laboratory of Natural and Biomimetic Drugs, School of Pharmaceutical Sciences, Peking University, Beijing 100191, China.

    Papers in Europe PMC
  2. 02
    Wang 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
  3. 03
    Zhang 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
  4. 04
    Liu J4 papers · 2026

    School of Graduate Education, Shandong Sport University, Jinan, Shandong, China.

    Papers in Europe PMC
  5. 05
    Wang 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
  6. 06
    Chen Y3 papers · 2025

    Laboratory of Fish Molecular Immunology, College of Fisheries and Life Science, Shanghai Ocean University, Shanghai, China.

    Papers in Europe PMC
  7. 07
    Guo Q3 papers · 2025

    School of Geography and Environment, Liaocheng University, Liaocheng 252000, China.

    Papers in Europe PMC
  8. 08
    He Z3 papers · 2025

    School of Geography and Environment, Liaocheng University, Liaocheng 252000, China.

    Papers in Europe PMC
  9. 09
    Liu H3 papers · 2026

    School of Pharmacy, Yantai University, Yantai 264005, China.

    Papers in Europe PMC
  10. 10
    Wang 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Combined immunodeficiency-multiple intestinal atresia — check Associations / patient organisations on that page.

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.

("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 "TTC7A syndrome" OR "TTC7A-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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 (1605) 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