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GENATLAS PHENOTYPE

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

Remark(s)