alveolar capillary dysplasia with misalignment of pulmonary veins
Findings
No curated finding names alveolar capillary dysplasia with misalignment of pulmonary veins yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.
Definition from the Mondo Disease Ontology (MONDO:0009934), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal death
HPO, annotations 2026-09-02
Features
71 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Alveolar capillary dysplasiaHPOHP:0033208
- 44 of 51 reported patients
- Misalignment of the pulmonary veinsHPOHP:0033186
- 44 of 51 reported patients
- Pulmonary arterial hypertensionHPOHP:0002092
- 1 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Respiratory distressHPOHP:0002098
- Very frequent (80% to 99% of cases)
- Hypoplastic left ventricleHPOHP:0004383
- 2 of 14 reported patients · Congenital onset
- 5 of 37 reported patients
- Frequent (30% to 79% of cases)
- Intestinal malrotationHPOHP:0002566
Show the remaining 59
- Aortic valve stenosisHPOHP:0001650
- Occasional (5% to 29% of cases)
- AspleniaHPOHP:0001746
- 1 of 14 reported patients · Congenital onset
- 1 of 37 reported patients
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
- 2 of 14 reported patients · Congenital onset
- 4 of 37 reported patients
- Occasional (5% to 29% of cases)
- Atrioventricular canal defectHPOHP:0006695
- 6 of 37 reported patients
- Occasional (5% to 29% of cases)
- Bicuspid aortic valveHPOHP:0001647
- 4 of 51 reported patients · Congenital onset
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FOXF1HGNC:3809
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: alveolar capillary dysplasia with misalignment of pulmonary veins
- Also called
- ACDMPValveolar capillary dysplasiaalveolar capillary dysplasia with misalignment of pulmonary vesselscongenital alveolar capillary dysplasiafoetal circulation