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References OMIM Gene GeneReviews HGMD HGNC
last update : 19-05-2015
Symbol PALVP
Location 12q14.1
Name pulmonary alveolar proteinosis
Corresponding gene MARS
Main clinical features
  • severe lung disorder that is prevalent on the island of Réunion, onset in early childhood
  • accumulation of lipoproteins in the pulmonary alveoli; this accumulation leads to restrictive lung disease and respiratory failure
  • Genetic determination autosomal recessive
    Function/system disorder respiratory
    Type disease