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

Official abbreviation PSP
Name pneumothorax, primary spontaneous
OMIM ID 173600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
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, PSP 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 - - PSP 4/13 had pneumothoraces, 13/13 had lung cysts FLCN FLCN 1 13 Johan den Dunnen
00107999 - PubMed: Frohlich 2008 - - - - - - 0 - - PSP Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00108003 - PubMed: Gunji 2007 - - - - - - 0 - - PSP 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 - - PSP Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00108010 - PubMed: Ren 2008 - - - - - - 0 - - PSP Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00108033 - PubMed: Frohlich 2008 - - - - - - 0 - - PSP 3/3 pneumothoraces, 3/3 lung cysts, Primary Spontaneous Pneumothorax FLCN FLCN 1 3 Johan den Dunnen
00108049 - PubMed: Graham 2005 - - - - - - 0 - - PSP 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 - - PSP pulmonary cysts FLCN FLCN 1 1 Mitsuko Furuya
00108070 - PubMed: Ren 2008 - - - - - - 0 - - PSP Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00108082 - - - M ? Japan - - 0 - - PSP pulmonary cysts, pneumothorax FLCN FLCN 1 1 Mitsuko Furuya
00108086 - PubMed: Ren 2008 - - - - - - 0 - - PSP Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00108089 - PubMed: Ren 2008 - - - - - - 0 - - PSP 2/3 pneumothoraces, 3/3 lung cysts, Primary Spontaneous Pneumothorax FLCN FLCN 1 3 Johan den Dunnen
00108100 - PubMed: Gunji 2007 Japanese family - - - - - 0 - - PSP Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00108108 - PubMed: Graham 2005 - - - - - - 0 - - PSP 6/6 Primary Spontaneous Pneumothorax FLCN FLCN 1 6 Johan den Dunnen
00108118 - PubMed: Gunji 2007, PubMed: Kunogi 2010 - - - Japan Japanese - 0 - - PSP Primary Spontaneous Pneumothorax FLCN FLCN 1 1 Johan den Dunnen
00276357 - PubMed: McDermott et al 2018 - F - - - - 0 - - PSP - FLCN FLCN 1 2 Derek Lim
00285785 - PubMed: Hoshika et al. 2016 - - - - - - 0 - - PSP Pneumothorax, lung cyst FLCN FLCN 1 1 Derek Lim
00285786 - PubMed: Liu et al. 2017b - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285788 - PubMed: Liu et al. 2017 - - - - - - 0 - - PSP Pneumothorax, lung cyst FLCN FLCN 1 1 Derek Lim
00285791 - PubMed: Liu et al. 2017 - - - - - - 0 - - PSP Pneumothorax, lung cyst, FLCN FLCN 1 1 Derek Lim
00285797 - PubMed: Liu et al. 2019 - - - - - - 0 - - PSP Pneumothorax FLCN FLCN 1 1 Derek Lim
00285803 - PubMed: Kim et al. 2012 - - - - - - 0 - - PSP 3/3 pneumothoraces FLCN FLCN 1 3 Derek Lim
00285805 - PubMed: Nikolaidou et al. 2016 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285807 - PubMed: Wiyono et al. 2016 - - - - - - 0 - - PSP pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285809 - PubMed: Okada et al. 2015 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285810 - PubMed: Liu et al. 2019 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285811 - PubMed: Liu et al. 2017 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285818 - PubMed: Liu et al. 2019 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285822 - PubMed: Liu et al. 2019 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285823 - PubMed: Liu et al. 2019 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285830 - PubMed: Liu et al. 2017 - - - - - - 0 - - PSP - FLCN FLCN 1 1 Derek Lim
00285833 - PubMed: Kim et al. 2017 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285834 - PubMed: Liu et al. 2017 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285835 - PubMed: Kumar et al. 2019 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285836 - PubMed: Liu et al. 2017 - - - - - - 0 - - PSP - FLCN FLCN 1 1 Derek Lim
00285838 - PubMed: Burkett et al. 2016 - - - - - - 0 - - PSP Pneumothorax FLCN FLCN 1 1 Derek Lim
00285845 - PubMed: Torricelli et al. 2019 - - - - - - 0 - - PSP 2/2 pneumothoraces, 2/2 lung cysts, 1/2 fibrofolliculoma FLCN FLCN 1 2 Derek Lim
00285848 - PubMed: Johannesma et al. 2015 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00285850 - - - - - - - - 0 - - PSP - FLCN FLCN 1 1 Derek Lim
00285852 - PubMed: Liu et al. 2017 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00286168 - PubMed: Iwabuchi et al. 2018 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00320396 - PubMed: Ebana et al 2016 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00320399 - PubMed: Kamda et al 2015 - - - - - - 0 - - PSP - FLCN FLCN 1 1 Derek Lim
00320400 - PubMed: Miura et al 2015 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00320401 - PubMed: Tamburrini et al 2015 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00320402 - PubMed: Demir et al 2016 - - - - - - 0 - - PSP Pneumothorax, lung cyst FLCN FLCN 1 1 Derek Lim
00320403 - PubMed: Dow et al 2016 - - - - - - 0 - - PSP Pneumothorax, lung cysts, fibrofolliculoma FLCN FLCN 1 1 Derek Lim
00320409 - PubMed: Jensen et al 2017 - - - - - - 0 - - PSP Pneumothorax FLCN FLCN 1 1 Derek Lim
00320410 - PubMed: Takegahara et al 2017 - - - - - - 0 - - PSP pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00320411 - PubMed: Whitworth et al 2017 - - - - - - 0 - - PSP - FLCN - 0 1 Derek Lim
00320413 - PubMed: Bock et al 2018 - - - - - - 0 - - PSP pneumothorax, RCC, lung cysts FLCN FLCN 1 1 Derek Lim
00320417 - PubMed: Furuya et al 2018 - - - - - - 0 - - PSP Pneumothorax, lung cysts FLCN FLCN 1 1 Derek Lim
00359570 - PubMed: McDermott 2018 family, 2 affectd sisters F - Ireland - - 0 - - PSP pneumothorax, lung cysts FLCN FLCN 1 2 Kenki Matsumoto
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