Disease #01509 (pneumothorax, primary spontaneous, OMIM:173600)

Official abbreviation -
Name pneumothorax, primary spontaneous
OMIM ID 173600
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 54
Phenotype entries for this disease 50
Associated with 1 gene FLCN
Associated tissues -
Disease features -
Remarks -


Individuals

54 entries on 1 page. Showing entries 1 - 54.
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00048066 - - - F - Denmark - - 0 - - MINAS, pneumothorax, primary spontaneous multiple cerebral cavernous heamangiomas 48y; Multinodular goitre 48y; Submandibular oncocytoma 57y; Recurrent pnemothoraces CCM2, FLCN CCM2, FLCN 2 1 James Whitworth
00107987 - PubMed: Painter 2005 - - - - - - 0 - - pneumothorax, primary spontaneous 4/13 had pneumothoraces, 13/13 had lung cysts FLCN FLCN 1 13 Johan den Dunnen
00107999 - PubMed: Frohlich 2008 - - - - - - 0 - - pneumothorax, primary spontaneous Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00108003 - PubMed: Gunji 2007 - - - - - - 0 - - pneumothorax, primary spontaneous Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00108004 - PubMed: Ishi 2009, PubMed: Kunogi 2010 Same patient described in both references - - Japan Japanese - 0 - - pneumothorax, primary spontaneous Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00108010 - PubMed: Ren 2008 - - - - - - 0 - - pneumothorax, primary spontaneous Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00108033 - PubMed: Frohlich 2008 - - - - - - 0 - - pneumothorax, primary spontaneous 3/3 pneumothoraces, 3/3 lung cysts, Primary Spontaneous Pneumothorax FLCN FLCN 1 3 Johan den Dunnen
00108049 - PubMed: Graham 2005 - - - - - - 0 - - pneumothorax, primary spontaneous 5/5 pneumothoraces, 4/4 lung cysts, Primary Spontaneous Pneumothorax FLCN FLCN 1 5 Johan den Dunnen
00108050 - - 2-generation family with 3 affecters F - Japan - - 0 - - pneumothorax, primary spontaneous pulmonary cysts FLCN FLCN 1 1 Mitsuko Furuya
00108070 - PubMed: Ren 2008 - - - - - - 0 - - pneumothorax, primary spontaneous Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00108082 - - - M ? Japan - - 0 - - pneumothorax, primary spontaneous pulmonary cysts, pneumothorax FLCN FLCN 1 1 Mitsuko Furuya
00108086 - PubMed: Ren 2008 - - - - - - 0 - - pneumothorax, primary spontaneous Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00108089 - PubMed: Ren 2008 - - - - - - 0 - - pneumothorax, primary spontaneous 2/3 pneumothoraces, 3/3 lung cysts, Primary Spontaneous Pneumothorax FLCN FLCN 1 3 Johan den Dunnen
00108100 - PubMed: Gunji 2007 Japanese family - - - - - 0 - - pneumothorax, primary spontaneous Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00108108 - PubMed: Graham 2005 - - - - - - 0 - - pneumothorax, primary spontaneous 6/6 Primary Spontaneous Pneumothorax FLCN FLCN 1 6 Johan den Dunnen
00108118 - PubMed: Gunji 2007, PubMed: Kunogi 2010 - - - Japan Japanese - 0 - - pneumothorax, primary spontaneous Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00276357 - PubMed: McDermott et al 2018 - F - - - - 0 - - pneumothorax, primary spontaneous - FLCN FLCN 1 2 Derek Lim
00285785 - PubMed: Hoshika et al. 2016 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cyst FLCN FLCN 1 1 Derek Lim
00285786 - PubMed: Liu et al. 2017b - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285788 - PubMed: Liu et al. 2017 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cyst FLCN FLCN 1 1 Derek Lim
00285791 - PubMed: Liu et al. 2017 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cyst, FLCN FLCN 1 1 Derek Lim
00285797 - PubMed: Liu et al. 2019 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax FLCN FLCN 1 1 Derek Lim
00285803 - PubMed: Kim et al. 2012 - - - - - - 0 - - pneumothorax, primary spontaneous 3/3 pneumothoraces FLCN FLCN 1 3 Derek Lim
00285805 - PubMed: Nikolaidou et al. 2016 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285807 - PubMed: Wiyono et al. 2016 - - - - - - 0 - - pneumothorax, primary spontaneous pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285809 - PubMed: Okada et al. 2015 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285810 - PubMed: Liu et al. 2019 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285811 - PubMed: Liu et al. 2017 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285818 - PubMed: Liu et al. 2019 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285822 - PubMed: Liu et al. 2019 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285823 - PubMed: Liu et al. 2019 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285830 - PubMed: Liu et al. 2017 - - - - - - 0 - - pneumothorax, primary spontaneous - FLCN FLCN 1 1 Derek Lim
00285833 - PubMed: Kim et al. 2017 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285834 - PubMed: Liu et al. 2017 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285835 - PubMed: Kumar et al. 2019 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285836 - PubMed: Liu et al. 2017 - - - - - - 0 - - pneumothorax, primary spontaneous - FLCN FLCN 1 1 Derek Lim
00285838 - PubMed: Burkett et al. 2016 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax FLCN FLCN 1 1 Derek Lim
00285845 - PubMed: Torricelli et al. 2019 - - - - - - 0 - - pneumothorax, primary spontaneous 2/2 pneumothoraces, 2/2 lung cysts, 1/2 fibrofolliculoma FLCN FLCN 1 2 Derek Lim
00285848 - PubMed: Johannesma et al. 2015 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285850 - - - - - - - - 0 - - pneumothorax, primary spontaneous - FLCN FLCN 1 1 Derek Lim
00285852 - PubMed: Liu et al. 2017 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00286168 - PubMed: Iwabuchi et al. 2018 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00320396 - PubMed: Ebana et al 2016 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00320399 - PubMed: Kamda et al 2015 - - - - - - 0 - - pneumothorax, primary spontaneous - FLCN FLCN 1 1 Derek Lim
00320400 - PubMed: Miura et al 2015 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00320401 - PubMed: Tamburrini et al 2015 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00320402 - PubMed: Demir et al 2016 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cyst FLCN FLCN 1 1 Derek Lim
00320403 - PubMed: Dow et al 2016 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts, fibrofolliculoma FLCN FLCN 1 1 Derek Lim
00320409 - PubMed: Jensen et al 2017 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax FLCN FLCN 1 1 Derek Lim
00320410 - PubMed: Takegahara et al 2017 - - - - - - 0 - - pneumothorax, primary spontaneous pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00320411 - PubMed: Whitworth et al 2017 - - - - - - 0 - - pneumothorax, primary spontaneous - FLCN - 0 1 Derek Lim
00320413 - PubMed: Bock et al 2018 - - - - - - 0 - - pneumothorax, primary spontaneous pneumothorax, RCC, lung cysts FLCN FLCN 1 1 Derek Lim
00320417 - PubMed: Furuya et al 2018 - - - - - - 0 - - pneumothorax, primary spontaneous Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00359570 - PubMed: McDermott 2018 family, 2 affectd sisters F - Ireland - - 0 - - pneumothorax, primary spontaneous pneumothorax, lung cysts FLCN FLCN 1 2 Kenki Matsumoto
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