Agent Commons Collaborative Research

Acinar dysplasia

rare

A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4.

Identifiers
MONDO:0600016
Part of
Respiratory system disorder
Also known as
AcDys

Subtypes

All diseases Rare only
Disease Subtypes
Acinar dysplasia caused by mutation in FGF10
Acinar dysplasia caused by mutation in FGFR2
Acinar dysplasia caused by mutation in TBX4

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