Disease #02991 (SMDP-2 (surfactant metabolism dysfunction, pulmonary, type 2 (SMDP-2)), OMIM:610913)

Official abbreviation SMDP-2
Name surfactant metabolism dysfunction, pulmonary, type 2 (SMDP-2)
OMIM ID 610913
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 13
Phenotype entries for this disease 13
Associated with 1 gene SFTPC
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Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00029666 - PubMed: Peca 2015, Journal: Peca 2015 Pat7 F - Italy - - 0 - - SMDP-2 - SFTPC SFTPC 1 1 Donatella Peca
00029669 - PubMed: Peca 2015, Journal: Peca 2015 Pat8 M - Italy white - 0 - - SMDP-2 see paper; ... SFTPC SFTPC 1 1 Donatella Peca
00029671 - PubMed: Peca 2015, Journal: Peca 2015 - F - Italy - - 0 - - SMDP-2 see paper; ... SFTPC SFTPC 1 1 Donatella Peca
00029672 - PubMed: Peca 2015, Journal: Peca 2015 Pat1, asymptomatic heterozygous carrier parent F - Italy white - 0 - - SMDP-2 see paper; ... SFTPC ABCA3, SFTPC 2 1 Donatella Peca
00029673 - PubMed: Peca 2015, Journal: Peca 2015 Pat2, asymptomatic heterozygous carrier parent M - Italy - - 0 - - SMDP-2 see paper; ... SFTPC SFTPC 1 1 Donatella Peca
00090135 - - - F no France - 00y03m 0 - - SMDP-2 - SFTPC SFTPC 1 1 Pascale Fanen
00092294 - PubMed: Peca 2015, Journal: Peca 2015 Pat3 M - Romania white - 0 - - SMDP-2 see paper; … SFTPC SFTPC 1 1 Johan den Dunnen
00092295 - PubMed: Peca 2015, Journal: Peca 2015 Pat4, asymptomatic heterozygous carrier parent F - Italy white - 0 - - SMDP-2 see paper; … SFTPC SFTPC 1 1 Johan den Dunnen
00092296 - PubMed: Peca 2015, Journal: Peca 2015 Pat5, asymptomatic heterozygous carrier parent M - Italy white - 0 - - SMDP-2 see paper; … SFTPC SFTPC 1 1 Johan den Dunnen
00100240 - - - F ? - - - 0 - - SMDP-2 - SFTPC SFTPC 1 1 Pascale Fanen
00100241 - PubMed: Nogee 2001, Journal: Nogee 2001 3-generation family, affected child, mother and maternal grandfather F no United States - - 0 - - SMDP-2 see paper; ..., chest radiography showed hyperinflation with increased interstitial markings, open-lung biopsy histologic features resemble most closely cellular or nonspecific interstitial pneumonitis; mother 1y diagnosed with desquamative interstitial pneumonitis treated until 15y with glucocorticoids, lung disease worsened after delivery, died from respiratory failure; maternal grandfather died from lifelong lung disease of unknown cause SFTPC SFTPC 1 3 Johan den Dunnen
00100242 - PubMed: Litao 2017, Journal: Litao 2017 2-generation family, 1 affected, healthy parents untested F yes United States Yemeni - 0 - - SMDP-2 see paper; ..., onset symptoms early infancy, progressive respiratory failure with need for prolonged mechanical ventilatory support, 1y-lung transplant SFTPC SFTPC 1 1 Johan den Dunnen
00296515 daughter proband PubMed: Cottin 2011 - F - - - - 0 - - SMDP-2 - SFTPC SFTPC 1 2 Joanne van der Vis
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