Pneumothorax malady

Genetics Home Reference: Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath.¹⁷

MalaCards: Pneumothorax is related to spontaneous pneumothorax and catamenial pneumothorax. An important gene associated with Pneumothorax is FLCN (folliculin), and among its related pathways are Amine Oxidase reactions and Nuclear signaling by ERBB4. The drug talc and the compounds estradiol benzoate and threonine have been mentioned in the context of this disorder. Affiliated tissues include colon, kidney and lung, and related mouse phenotypes are endocrine/exocrine gland and renal/urinary system.

Wikipedia: Pneumothorax (pl. pneumothoraces) is an abnormal collection of air or gas in the pleural space...⁴⁴ more...

Aliases & Descriptions:

pneumothorax 6 7 8 32 43

Diseases related to pneumothorax by text searches and GeneDecks gene sharing:

(show top 50)    (show all 398)

id	Related Disease	Score	Top Affiliating Genes
1	spontaneous pneumothorax	33.9	LBP, CD36, FLCN, FBN1, CCL11, ELANE
2	catamenial pneumothorax	31.5	MUC16, GNRH1, ESR1, PGR
3	marfan syndrome	28.8	CD36, FBN1, ESR1, COL3A1, ELANE, ELN
4	lymphangioleiomyomatosis	27.7	TSC1, TSC2, DES
5	emphysema	26.9	SERPINB1, KDR, FBN1, ELANE, ELN
6	sarcoidosis	26.3	KDR, CCL11, COL3A1, ACE, ELANE, SOD1
7	eosinophilia	25.8	MUC1, IL3, CCL11, ESR1, ACE
8	endometriosis	24.4	KDR, MUC1, MUC16, CD36, CCL11, GNRH1
9	leiomyoma	21.9	MUC1, MUC16, CD36, FLCN, CCL11, GNRH1
10	breast cancer	20.3	PAOX, KDR, MUC1, MUC16, CD36, IL3
11	carcinoma	16.1	SERPINB1, KDR, MUC1, MUC16, LBP, CD36
12	vulvar syringoma	13.7	ESR1, PGR
13	glassy cell carcinoma of the cervix	13.7	ESR1, PGR
14	fallopian tube carcinoma	13.7	MUC16, ESR1, PGR
15	ovarian serous cystadenocarcinoma	13.6	MUC16, ESR1, PGR
16	bronchogenic cyst	13.6	MUC16, NKX2-1
17	fragile x-associated primary ovarian insufficiency	13.6	MUC16, GNRH1, ESR1
18	papillary serous adenocarcinoma	13.6	MUC16, NKX2-1, PGR
19	tracheal stenosis	13.6	CD36, FBN1, TEF
20	serous cystadenocarcinoma	13.6	MUC16, ESR1, PGR
21	peritoneal carcinoma	13.6	MUC16, PPCS, PGR
22	cribriform carcinoma	13.6	ESR1, PGR
23	adenofibroma	13.6	MUC16, CALB2, PGR
24	prostatic hypertrophy	13.6	CD36, GNRH1, ESR1, PGR
25	bronchitis	13.6	SERPINB1, CCL11, ELANE
26	transsexualism	13.6	GNRH1, ESR1, PGR
27	cervical endometrioid adenocarcinoma	13.5	CALB2, ESR1, PGR
28	obstructive jaundice	13.5	MUC16, LBP, ELANE, SOD1
29	progesterone resistance	13.5	ESR1, PGR
30	myoma	13.5	DES, PGR
31	ovarian clear cell adenocarcinoma	13.5	MUC16, ESR1, PGR
32	aortic disease	13.5	FBN1, ELN
33	ovarian cancer	13.5	MUC16, CALB2, PGR
34	pulmonary neuroendocrine tumor	13.5	ESR1, NKX2-1, PGR
35	gastric leiomyosarcoma	13.5	DES, PGR
36	left ventricular outflow tract obstruction (lvoto)	13.5	FBN1, ELN
37	meconium aspiration syndrome	13.4	PAOX, GPBAR1, SMOX
38	tuberous sclerosis	13.4	TSC1, TSC2
39	ehlers-danlos syndrome	13.4	CD36, COL3A1
40	adult respiratory distress syndrome	13.4	LBP, ELANE, ELN
41	cellular leiomyoma	13.4	CCL11, ESR1, DES, PGR
42	epithelioid leiomyosarcoma	13.4	ACTC1, DES
43	glomangiomyoma	13.4	ACTC1, DES
44	infantile myofibromatosis	13.4	ACTC1, DES
45	malignant giant cell tumor of soft parts	13.4	ACTC1, DES
46	abdominal aortic aneurysm	13.4	FBN1, ELANE, ELN
47	ehlers-danlos syndrome type iv	13.4	COL3A1, ELN
48	endometrial stromal nodule	13.4	DES, PGR
49	kidney angiomyolipoma	13.4	TSC1, TSC2, PGR
50	intravenous leiomyomatosis	13.4	ESR1, ACTC1, DES

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 talc

MalaCards organs/tissues related to pneumothorax:

²²

MGI Mouse Phenotypes related to pneumothorax:

²⁵ (show all 16)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	10.1	NKX2-1, GNRH1, GPBAR1
2	renal/urinary system phenotype	MP:0005367	9.3	TSC2, TSC1, PPP3R1, ESR1, GNRH1, FBN1
3	liver/biliary system phenotype	MP:0005370	9.3	SOD1, TSC2, COL3A1, GPBAR1, CD36, LBP
4	no phenotypic analysis	MP:0003012	9.0	ESR1, GPBAR1, FBN1, MUC1, CLN3, NKX2-1
5	hematopoietic system phenotype	MP:0005397	8.9	TSC2, PPP3R1, CCL11, FBN1, IL3, SERPINB1
6	immune system phenotype	MP:0005387	8.7	GFAP, ELANE, GNRH1, FBN1, LBP, KDR
7	nervous system phenotype	MP:0003631	8.4	NKX2-1, PVALB, TSC2, TSC1, TEF, CALB2
8	tumorigenesis	MP:0002006	7.5	PGR, NKX2-1, TSC2, TSC1, ELANE, ACE
9	muscle phenotype	MP:0005369	7.2	PGR, SOD1, DES, PVALB, TSC1, GFAP
10	growth/size phenotype	MP:0005378	7.1	ACTC1, GFAP, TSC1, TSC2, NKX2-1, ACE
11	normal phenotype	MP:0002873	6.7	PGR, PVALB, TSC2, GFAP, ELANE, ACTC1
12	behavior/neurological phenotype	MP:0005386	6.4	TSC1, TSC2, PVALB, DES, NKX2-1, PGR
13	mortality/aging	MP:0010768	6.3	ACE, ELANE, GFAP, TSC1, TSC2, DES
14	cardiovascular system phenotype	MP:0005385	5.9	GFAP, TSC1, TSC2, DES, SOD1, NKX2-1
15	cellular phenotype	MP:0005384	5.6	ACTC1, GFAP, TSC1, TSC2, PVALB, SOD1
16	homeostasis/metabolism phenotype	MP:0005376	3.7	PGR, COL3A1, ACE, ACTC1, ELANE, ELN

Articles related to pneumothorax:

(show all 27)

id	Title	Authors	Year	Affiliating Genes
1	Renal cancer and pneumothorax risk in Birt-Hogg-DubAc syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. (22146830)	Houweling A.C.... Menko F.H.	2011	FLCN
2	Spontaneous bilateral pneumothorax in metastatic rena l cell carcinoma on sunitinib therapy. (20204363)	Katta A.... Richart J.M.	2010	KDR
3	Clinical and genetic spectrum of Birt-Hogg-Dube syndr ome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. (20413710)	Kunogi M.... Seyama K.	2010	FLCN
4	Spontaneous pneumothorax as the first manifestation of a hereditary condition with an increased renal cancer risk (19857281)	Johannesma P.C.... Menko F.H.	2009	FLCN
5	A Japanese family with multiple lung cysts and recurr ent pneumothorax: a possibility of Birt-Hogg-DubAc syndrome. (19687589)	Ishii H.... Kadota J.	2009	FLCN
6	Catamenial pneumothorax with breast cancer treated s uccessfully by goserelin acetate (19827558)	Matsuura M.... Senoo N.	2009	PGR, ESR1, GNRH1
7	Pneumothorax in two siblings: is there a genetic basis for recurrence? (19327534)	Henderson J.... Morgan A.	2009	FLCN
8	Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation. (19483054)	Sundaram S.... Morrell N.W.	2009	FLCN
9	Novel mutations in the folliculin gene associated with spontaneous pneumothorax. (18579543)	Frohlich B.A.... Russi E.W.	2008	FLCN
10	Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. (18505456)	Ren H.Z.... Yi L.	2008	FLCN
11	Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. (17496196)	Gunji Y.... Seyama K.	2007	FLCN
12	Pleural fluid and peripheral eosinophilia from hemoth orax: hypothesis of the pathogenesis of EPE in hemothorax and pneumothorax. (16969147)	Heidecker J.... Sahn S.A.	2006	IL3
13	Spontaneous rupture of the colon sigmoid following spontaneous recurrent pneumothorax in a patient with Marfan syndrome. (16501427)	Kouerinis I.A.... Bellenis I.P.	2006	ELN
14	Familial spontaneous pneumothorax. (16825879)	Chiu H.T.... Garcia C.K.	2006	FLCN
15	Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. (15805188)	Graham R.B.... Garcia C.K.	2005	FLCN
16	A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax. (15657874)	Painter J.N.... Aittomaeki K.	2005	FLCN
17	Five cases of female pneumothorax with endometriosis on the blebs (15704454)	Hiraoka N.... Yoshizawa Y.	2005	MUC16
18	Characterisation of pleural inflammation occurring after primary spontaneous pneumothorax. (15219004)	De Smedt A.... Noppen M.	2004	LBP, CCL11
19	Levels of superoxide dismutase and malondialdehyde in primary spontaneous pneumothorax. (15223614)	Tabakoglu E.... Caglar T.	2004	SOD1
20	Familial spontaneous pneumothorax and FBN1 mutations. (15161620)	Cardy C.M.... Thornley P.E.	2004	FBN1
21	Primary leiomyoma of the lung, with clear-cell features and admixed alveolar spaces: description of a case presenting with pneumothorax (12768881)	Cavazza A.... De Marco L.	2003	DES, MUC1, GFAP
22	Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. (11533913)	Schmidt L.S.... Zbar B.	2001	FLCN
23	Expression of CA125 in thoracic endometriosis in a patient with catamenial pneumothorax. (10516547)	Tsunezuka Y.... Kurumaya H.	1999	MUC16
24	A case of sarcoidosis discovered by onset of pneumothorax (7791273)	Komiya T.... Tano Y.	1995	ACE
25	A case of re-expansion pulmonary edema following wat er seal drainage for spontaneous pneumothorax--management with right and left-s eparated mechanical ventilation (1630063)	Kohiyama R.... Seo N.	1992	ELANE
26	A case report of spontaneous pneumothorax in Marfan's syndrome and an immunohistochemical study of type I collagen in lung tissue (1753546)	Takanami I.... Shikata J.	1991	CD36
27	The antielastase screen of the lower respiratory tract of alpha 1-proteinase inhibitor-sufficient patients with emphysema or pneumothorax. (2327650)	Gast A.... Bieth J.G.	1990	SERPINB1

Genes related to pneumothorax according to GeneCards:

(show all 39)

id	Symbol	Description	Score	GeneCards Section Context
1	FLCN	folliculin	11.1	Publications, Summaries
2	LBP	lipopolysaccharide binding protein	11.0	Publications
3	CCL11	chemokine (C-C motif) ligand 11	11.0	Publications
4	MUC16	mucin 16, cell surface associated	11.0	Publications
5	GNRH1	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	11.0	Publications
6	FBN1	fibrillin 1	11.0	Publications
7	TSC1	tuberous sclerosis 1	11.0
8	ELANE	elastase, neutrophil expressed	11.0	Publications
9	CD36	CD36 molecule (thrombospondin receptor)	11.0	Publications
10	PGR	progesterone receptor	11.0	Publications
11	SOD1	superoxide dismutase 1, soluble	11.0	Publications
12	ESR1	estrogen receptor 1	11.0	Publications
13	PPCS	phosphopantothenoylcysteine synthetase	11.0
14	SCAND1	SCAN domain containing 1	11.0
15	BET1	blocked early in transport 1 homolog (S. cerevisiae)	11.0
16	SERPINB1	serpin peptidase inhibitor, clade B (ovalbumin), member 1	11.0	Publications
17	TEF	thyrotrophic embryonic factor	11.0
18	PAOX	polyamine oxidase (exo-N4-amino)	11.0
19	WNT10A	wingless-type MMTV integration site family, member 10A	11.0
20	GPBAR1	G protein-coupled bile acid receptor 1	11.0
21	TES	testis derived transcript (3 LIM domains)	11.0
22	CLN3	ceroid-lipofuscinosis, neuronal 3	11.0
23	SMOX	spermine oxidase	11.0
24	NKX2-1	NK2 homeobox 1	11.0	Publications
25	FNIP2	folliculin interacting protein 2	11.0
26	PVALB	parvalbumin	11.0
27	CALB2	calbindin 2	11.0	Publications
28	COL3A1	collagen, type III, alpha 1	11.0
29	ACTC1	actin, alpha, cardiac muscle 1	11.0	Publications
30	PPP3R1	protein phosphatase 3, regulatory subunit B, alpha	11.0
31	FNIP1	folliculin interacting protein 1	11.0
32	DES	desmin	11.0	Publications
33	ELN	elastin	11.0	Publications
34	GFAP	glial fibrillary acidic protein	11.0	Publications
35	TSC2	tuberous sclerosis 2	11.0
36	IL3	interleukin 3 (colony-stimulating factor, multiple)	11.0	Publications
37	MUC1	mucin 1, cell surface associated	11.0	Publications
38	KDR	kinase insert domain receptor (a type III receptor tyrosine kinase)	11.0	Publications
39	ACE	angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	11.0	Publications

Pathways related to pneumothorax according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Amine Oxidase reactions38	10.1	PAOX, SMOX
2	Nuclear signaling by ERBB438	9.9	ESR1, GFAP, PGR
3	ERK Signaling36	9.4	COL3A1, ESR1, GNRH1, FBN1, IL3
4	Inhibition of Angiogenesis by TSP136	8.9	ELN, COL3A1, FBN1, CD36, KDR
5	PTEN Pathway36	8.5	ELN, COL3A1, GNRH1, FBN1, KDR
6	Phospholipase-C Pathway36	8.0	ELN, COL3A1, PPP3R1, GNRH1, FBN1, IL3
7	Molecular Mechanisms of Cancer36	7.7	TSC2, TSC1, ELN, COL3A1, GNRH1, CCL11
8	Rho Family GTPases36	7.6	KDR, DES, GFAP, ELN, COL3A1, GNRH1
9	ILK Signaling36	7.5	ELN, COL3A1, GNRH1, FBN1, IL3, MUC1

Compounds related to pneumothorax according to GeneDecks:

(show top 50)    (show all 107)

id	Compound	Score	Top Affiliating Genes
1	estradiol benzoate32	10.3	PGR, GNRH1, ESR1
2	threonine32	10.3	CCL11, GPBAR1, NKX2-1
3	gnrh32	10.2	GPBAR1, NKX2-1
4	desmosine32	10.2	ELANE, ELN, FBN1
5	goserelin32 9 9	12.0	PGR, ESR1, GNRH1
6	raloxifene32 9 9	12.0	ESR1, PGR, GNRH1, CD36
7	orcein32	9.8	FBN1, DES, ACTC1, ELN
8	progestin32	9.6	DES, GNRH1, KDR
9	sodium dodecylsulfate32	9.6	ELANE, PGR, DES, ELN, FBN1
10	tannins32	9.6	ELN, ELANE, CD36
11	agar32	9.4	PGR, MUC1, ELN
12	procollagen32	9.4	ELN, CD36, DES, COL3A1, ACTC1
13	eosin32	9.4	GFAP, ELN, MUC1
14	oxygen32 18	10.3	TSC2, GFAP, ELANE, ACTC1, CCL11, LBP
15	s 10032	9.2	DES, ACTC1, MUC1, GFAP
16	dmso32	9.2	SOD1, MUC1, CD36, GNRH1, ELN, PGR
17	reticulin32	9.2	MUC1, ACTC1, GFAP, DES
18	mucicarmine32	9.2	NKX2-1, ACTC1, MUC1, CALB2, DES
19	b 72332	9.1	ACTC1, MUC1, MUC16, CALB2, DES, NKX2-1
20	progesterone32 42 9 18 9	13.0	ESR1, MUC16, PGR, NKX2-1, GFAP, ACTC1
21	adriamycin32	8.9	PGR, SOD1, MUC1, DES, IL3, CD36
22	estradiol32 9 18 9	11.8	MUC1, ESR1, PGR, DES, GFAP
23	steroid32	8.8	MUC16, NKX2-1, DES, TSC2, PGR, CALB2
24	hyaluronic acid32 18	9.7	ELANE, DES, ELN, MUC1, MUC16, CD36
25	acetylcholine32 9 18 9	11.7	PVALB, GFAP, ELANE, CALB2, DES, GNRH1
26	hydrocortisone32 9 9	10.6	ELANE, KDR, MUC1, CD36, IL3
27	alanine32	8.6	FBN1, CCL11, PGR, ELN, TSC1, SOD1
28	cysteine32	8.6	PPCS, GFAP, ELANE, MUC1, FBN1, KDR
29	glutamate32	8.5	KDR, GNRH1, CALB2, GFAP, COL3A1, PVALB
30	actinomycin d32	8.5	GNRH1, DES, ELN, MUC1, LBP, IL3
31	paclitaxel32 34 9 9	11.4	KDR, GFAP, ESR1, CALB2, PGR, IL3
32	5fluorouracil32	8.4	MUC1, CD36, IL3, GNRH1, PGR, ESR1
33	hematoxylin32	8.3	MUC16, ACTC1, ELN, GFAP, DES, NKX2-1
34	adenylate32	8.3	IL3, GPBAR1, GNRH1, GFAP, ELANE, PGR
35	formaldehyde32 18	9.3	NKX2-1, ACTC1, DES, GNRH1, MUC1, ELN
36	cyclosporin a32 42	9.2	CCL11, IL3, KDR, ACTC1, PPP3R1, PGR
37	genistein32 9 18 9	11.2	PGR, KDR, CD36, IL3, CCL11, ESR1
38	heparin32 9 18 9	11.0	IL3, CD36, SERPINB1, LBP, FBN1, ELANE
39	h2o232	7.9	IL3, SOD1, SERPINB1, KDR, MUC16, CD36
40	retinoic acid32 42 18	9.9	KDR, IL3, FBN1, CCL11, GNRH1, ESR1
41	lactate32	7.9	SOD1, GNRH1, DES, GFAP, ELN, ELANE
42	thymidine32 18	8.3	DES, CCL11, CALB2, IL3, MUC1, KDR
43	creatinine32	7.3	IL3, GNRH1, MUC1, LBP, CD36, MUC16
44	testosterone32 9 18 9	10.2	MUC1, PGR, DES, MUC16, GFAP, ELN
45	dexamethasone32 42 34 9 9	11.0	CD36, NKX2-1, LBP, IL3, CCL11, GFAP
46	vegf32	6.9	MUC16, KDR, MUC1, CD36, CCL11, ESR1
47	paraffin32	6.3	MUC1, ACTC1, ESR1, CALB2, CD36, MUC16
48	tyrosine32	6.0	MUC1, CCL11, GPBAR1, CALB2, ACTC1, GFAP
49	serine32	5.6	DES, NKX2-1, LBP, PVALB, TSC2, MUC1
50	estrogen32	5.5	TSC2, PVALB, DES, NKX2-1, PGR, GFAP

Cellular components related to pneumothorax according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	TSC1-TSC2 complex	GO:033596	9.9	TSC1, TSC2
2	extracellular space	GO:005615	8.0	SERPINB1, SOD1, ACE, COL3A1, GNRH1, CCL11

Biological processes related to pneumothorax according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of growth of symbiont in host	GO:044130	10.1	LBP, CD36, ELANE
2	spermine catabolic process	GO:046208	9.8	SMOX, PAOX
3	regulation of protein phosphorylation	GO:001932	9.7	FNIP1, FNIP2, FLCN
4	response to ethanol	GO:045471	9.7	GNRH1, ACTC1, SOD1, NKX2-1

Molecular functions related to pneumothorax according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	spermine:oxygen oxidoreductase (spermidine-forming) activity	GO:052901	10.1	PAOX, SMOX
2	polyamine oxidase activity	GO:046592	9.8	PAOX, SMOX
3	protein binding	GO:005515	4.8	CLN3, ACE, ELANE, ELN, TSC1, TSC2