ORPHA:210122
Congenital alveolar capillary dysplasia
Also known as: ACDMPV · Alveolar capillary dysplasia with misalignment of pulmonary veins · Alveolar capillary dysplasia with misalignment of pulmonary vessels
Publications
5,575
Trials
0
Interventional, condition-specific
Researchers
1,101
Distinct authors in sample
Gene link
FOXF1
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
alveolar capillary (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.
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:0009934
- MeSH:C536590
- OMIM:265380
- UMLS:C2960310
- NCIT:C98809
Additional Mondo synonyms (5)
alveolar capillary dysplasia · alveolar capillary dysplasia with misalignment of pulmonary veins · alveolar capillary dysplasia with misalignment of pulmonary vessels · congenital alveolar capillary dysplasia · foetal circulation
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.”
4/6 stages with a signal
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — FOXF1
- LiteraturePresent
5,575 matched papers (3,243 in last 10 years) Source
- Phenotype characterisedPresent
101 HPO annotations (e.g. Chiari malformation; Annular pancreas; Butterfly vertebrae) Source
- Animal modelPresent
3 genotype models (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (FOXF1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
101
Associated phenotypes · MONDO:0009934
- Chiari malformation
- Annular pancreas
- Butterfly vertebrae
- Coarctation of aorta
- Neonatal respiratory distress
Showing 5 of 101 — open Monarch for the full list.
Animal models (Monarch / Alliance)
3
Model associations linked to this Mondo ID
- Ptentm1Hwu/Ptentm1Hwu Twist2tm1.1(cre)Dor/Twist2+ [background:] B6.129-Twist2tm1.1(cre)Dor Ptentm1Hwu·MGI:5503192·Mus musculus
- Nos3tm1Unc/Nos3tm1Unc [background:] B6.129P2-Nos3tm1Unc/J·MGI:3618597·Mus musculus
- Foxf1em1Vvk/Foxf1+ [background:] involves: C57BL/6 * DBA/2·MGI:6470789·Mus musculus
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?
5,575
5,575 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=3967) is 59.
5,575 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).
3,243 in the last 10 years · low confidence
Phrase hits: 2,975 · MeSH hits: 58
Who's working on it?
1,101
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.
- 01Stankiewicz P25 papers · 2026
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 02Szafranski P22 papers · 2026
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 03
- 04Karolak JA15 papers · 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 05Kalin TV12 papers · 2026
Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; and.
Papers in Europe PMC - 06Gambin T9 papers · 2026
Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.
Papers in Europe PMC - 07
- 08Whitsett JA7 papers · 2026
Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; and.
Papers in Europe PMC - 09Deutsch G6 papers · 2026
Department of Laboratory Medicine and Pathology, University of Washington School of Medicine, Seattle, Washington, USA.
Papers in Europe PMC - 10Popek E6 papers · 2022
Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 Congenital alveolar capillary dysplasia — check Associations / patient organisations on that page.
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.
("Congenital alveolar capillary dysplasia" OR "ACDMPV" OR "Alveolar capillary dysplasia with misalignment of pulmonary veins" OR "Alveolar capillary dysplasia with misalignment of the pulmonary veins" OR "Alveolar capillary dysplasia with misalignment of pulmonary vessels" OR "Alveolar capillary dysplasia with misalignment of the pulmonary vessels" OR "alveolar capillary dysplasia" OR "foetal circulation") OR (MESH:"Alveolar capillary dysplasia") OR ("FOXF1" OR "FOXF1 syndrome" OR "FOXF1-related")MeSH descriptor terms unioned into the query: Alveolar capillary dysplasia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital alveolar capillary dysplasia" OR "ACDMPV" OR "Alveolar capillary dysplasia with misalignment of pulmonary veins" OR "Alveolar capillary dysplasia with misalignment of the pulmonary veins" OR "Alveolar capillary dysplasia with misalignment of pulmonary vessels" OR "Alveolar capillary dysplasia with misalignment of the pulmonary vessels" OR "alveolar capillary dysplasia" OR "foetal circulation"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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
- Publication count (5575) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T09:29:05.255Z