Orphanet: Severe early onset pulmonary alveolar proteinosis due to MARS deficiency
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Disease definition

A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis.

ORPHA:440427

Classification level: Disorder
  • Synonym(s):
    • Hereditary pulmonary alveolar proteinosis with hepatic involvement
    • Interstitial lung and liver disease
    • PAP, Reunion island type
    • Pulmonary alveolar proteinosis, Reunion island type
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: J84.0
  • OMIM: 615486
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.