Details of Disease

Disease Name

Alveolar capillary dysplasia with misalignment of pulmonary veins

persistent fetal circulation; pulmonary hypertension, familial persistent of the newborn; alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies; familial persistent pulmonary hypertension of the newborn; alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies; persistent foetal circulation syndrome; persistent foetal circulation; persistent pulmonary hypertension of the newborn; alveolar capillary dysplasia with pulmonary venous misalignment; ACDMPV; foetal circulation; fetal circulation; alveolar capillary dysplasia; congenital alveolar capillary dysplasia with misalignment of pulmonary veins; alveolar capillary dysplasia with misalignment of pulmonary veins; congenital alveolar capillary dysplasia; alveolar capillary dysplasia with misalignment of pulmonary vessels

Definition

A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.|Editor note: MESH and NCIT split this, see NCIT:C98809

Disease Hierarchy

DISMT2VZ: Cardiogenetic disease

DISHIIPI: Congenital pulmonary veins anomaly

DIS5DLPU: Primary interstitial lung disease specific to childhood

DIS6CNDL: Alveolar capillary dysplasia with misalignment of pulmonary veins

Disease Identifiers

MONDO ID

MONDO_0009934

UMLS CUI

C2960310

MedGen ID

755478

Orphanet ID

210122

SNOMED CT ID

447275002

General Information of Disease (ID: DIS6CNDL)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Drugs in Phase 3 Trial

Drug Name	Drug ID	Highest Status	Drug Type	REF
Sildenafil	DM4YDAJ	Phase 3 Trial	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXF1	OT2CJZ5K	Definitive	Autosomal dominant	[2]
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References

1	Sildenafil FDA Label
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.