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GENATLAS PHENOTYPE
last update : 27-02-2013
Symbol ACDMPV
Location 16q24.1
Name alveolar capillary dysplasia with misalignment of pulmonary veins
Other name(s) alveolar capillary dysplasia, congenital
Corresponding gene FOXF1
Other symbol(s) CACD, DEL16Q24
Main clinical features
  • developmental disorder of the lung that affect both acinar structure and intrinsic pulmonary vasculature
  • lethal in newborns with respiratory distress and severe pulmonary hypertension
  • additional malformations in more than 80 percent of infants with intestinal malrotation, hypoplastic left heart or coarctation of the aortic arch as the most commonly observed
    • Genetic determination chromosomal
    autosomal dominant
    epigenetic
    Prevalence rare
    Related entries including VACTERL with a lethal developmental pulmonary disorder, alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) (PMID: 21315191)
    Function/system disorder respiratory
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion     genic deletions
      deletion   overlapping microdeletions encompassing the FOX gene cluster in 16q24.1q24.2
    nonsense     inactivating mutations of FOXF1
    Remark(s) two microdeletions upstream of FOXF1 implicating a position effect, also an inversion breakpoint, PMID: 23444129 ; deletions of a small noncoding differentially methylated region at 16q24.1, including lncRNA genes, cause ACD/MPV, with parent-of-origin effects, PMID: 23034409
    Genotype/Phenotype correlations association of microdeletions with hypoplastic left heart syndrome and gastrointestinal atresia suggest a role of haploinsufficiency of FOXC2 and FOXL1 (Yu 2010)