Surfactant Metabolism Dysfunction, Pulmonary, 1

Alternative Names

  • SMDP1
  • Pulmonary Alveolar Proteinosis, Congenital, 1
  • Interstitial Lung Disease due to Surfactant Protein B Deficiency
  • Interstitial Lung Disease, Nonspecific, due to Surfactant Protein B Deficiency
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WHO-ICD-10 version:2010

Certain conditions originating in the perinatal period

Respiratory and cardiovascular disorders specific to the perinatal period

OMIM Number

265120

Mode of Inheritance

Autosomal recessive 

Gene Map Locus

2p11.2

Description

SMDP is a usually fatal disorder in which full-term infants present with progressive hypoxemic respiratory failure. Most patients require mechanical ventilation, and some even cardiopulmonary bypass. Therapeutic options are limited. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
265120.1.1LebanonFemaleYesYes Tachypnea; Cyanosis; Pulmonary infiltr...NM_198843.2:c.401delTHomozygousAutosomal, RecessiveFerzli et al., 2006 Had a similarly affe...
265120.2United Arab Emirates Abnormality of the respiratory systemNM_000542.3:c.1039-6C>GHeterozygousAutosomal, DominantAlsamri et al. 2021 No clinical signific...
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