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Interstitial lung disease due to ABCA3 deficiency

Disease definition

A rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.

ORPHA:440402

Classification level: Disorder
  • Synonym(s):
    • Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: J84.8
  • OMIM: 610921
  • UMLS: C1970456
  • MeSH: C567046
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.