Spontaneous 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: Spontaneous Pneumothorax is related to pneumothorax and marfan syndrome. An important gene associated with Spontaneous Pneumothorax is FLCN (folliculin), and among its related pathways are Immune response_TLR signaling pathways and Immune response Toll-like receptor (TLR) ligands and common TLR signaling pathway leading to cell proinflammatory response. The compounds luminol and polysulfone have been mentioned in the context of this disorder. Affiliated tissues include kidney and lung, and related mouse phenotypes are hematopoietic system and immune system.

spontaneous pneumothorax 16 32 43

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

(show top 50)    (show all 116)

id	Related Disease	Score	Top Affiliating Genes
1	pneumothorax	30.5	LBP, SOD1, ELANE, CCL11, FBN1, FLCN
2	marfan syndrome	27.9	CD36, FBN1, ELANE
3	allergic conjunctivitis	13.0	CCL11, SOD1
4	dermatitis herpetiformis	12.9	FBN1, CCL11
5	renovascular hypertension	12.9	SOD1, FBN1
6	poems syndrome	12.9	CD36, CCL11
7	epidermolysis bullosa dystrophica	12.8	FBN1, CD36
8	tracheal stenosis	12.8	CD36, FBN1
9	localized scleroderma	12.8	CD36, FBN1
10	peyronies disease	12.8	SOD1, CD36
11	neurocirculatory asthenia	12.7	SOD1, FBN1
12	chronic sphenoidal sinusitis	12.7	CCL11, ELANE
13	vernal keratoconjunctivitis	12.6	CCL11, CD36
14	bronchitis	12.6	CCL11, ELANE
15	homocystinuria	12.6	CD36, FBN1
16	connective tissue disease	12.6	CD36, FBN1
17	newborn respiratory distress syndrome	12.6	LBP, ELANE
18	respiratory failure	12.6	CCL11, ELANE
19	abdominal aortic aneurysm	12.6	ELANE, FBN1
20	chronic ulcer of skin	12.5	CD36, ELANE
21	cutis laxa	12.5	FBN1, ELANE
22	serous glue ear	12.5	CCL11, SOD1
23	venous insufficiency	12.5	SOD1, ELANE
24	adult respiratory distress syndrome	12.4	ELANE, SOD1
25	ehlers-danlos syndrome	12.3	CD36, FBN1
26	variegate porphyria	12.3	SOD1, FBN1, CD36
27	scoliosis	12.3	CD36, FBN1, SOD1
28	noma	12.3	CD36, FLCN, SOD1
29	age related macular degeneration	12.3	SOD1, CCL11, CD36
30	myopia 6	12.3	SOD1, FBN1, CD36
31	purpura	12.3	CD36, CCL11, SOD1
32	leiomyoma	12.3	CCL11, FLCN, CD36
33	ankylosing spondylitis	12.3	SOD1, FBN1, CD36
34	aneurysm disease	12.2	FBN1, ELANE
35	spondylitis	12.2	SOD1, FBN1, CD36
36	obstructive jaundice	12.2	LBP, ELANE, SOD1
37	disseminated intravascular coagulation	12.2	LBP, ELANE, SOD1
38	crescentic glomerulonephritis	12.2	ELANE, CD36
39	aortic valve stenosis	12.2	FBN1, CD36
40	ulcerative colitis	12.2	ELANE, CCL11, LBP
41	hepatopulmonary syndrome	12.2	SOD1, ELANE, LBP
42	jaundice	12.2	SOD1, ELANE, LBP
43	systemic scleroderma	12.2	CD36, FBN1, SOD1
44	otitis media	12.2	SOD1, ELANE, CCL11
45	acute pancreatitis	12.2	SOD1, ELANE, LBP
46	cork-handlers' disease	12.2	SOD1, ELANE, CCL11
47	uveitis	12.2	CCL11, ELANE, SOD1
48	pulmonary tuberculosis	12.2	CCL11, ELANE, SOD1
49	periodontitis	12.2	ELANE, CD36, LBP
50	liver cirrhosis	12.1	LBP, CD36, SOD1

Approved drugs:

Drug clinical trials:

Genetic tests related to spontaneous pneumothorax:

id	Genetic test	Affiliating Genes
1	Spontaneous Pneumothorax clinical/research	FLCN

MalaCards organs/tissues related to spontaneous pneumothorax:

²²

MGI Mouse Phenotypes related to spontaneous pneumothorax:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	9.5	CCL11, FBN1
2	immune system phenotype	MP:0005387	7.0	SOD1, ELANE, CCL11, FBN1, CD36, LBP
3	homeostasis/metabolism phenotype	MP:0005376	6.9	SOD1, ELANE, FBN1, FLCN, CD36, LBP

Articles related to spontaneous pneumothorax:

(show all 13)

id	Title	Authors	Year	Affiliating Genes
1	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
2	Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation. (19483054)	Sundaram S.... Morrell N.W.	2009	FLCN
3	Novel mutations in the folliculin gene associated with spontaneous pneumothorax. (18579543)	Frohlich B.A.... Russi E.W.	2008	FLCN
4	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
5	Familial spontaneous pneumothorax. (16825879)	Chiu H.T.... Garcia C.K.	2006	FLCN
6	Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. (15805188)	Graham R.B.... Garcia C.K.	2005	FLCN
7	A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax. (15657874)	Painter J.N.... Aittomaeki K.	2005	FLCN
8	Characterisation of pleural inflammation occurring after primary spontaneous pneumothorax. (15219004)	De Smedt A.... Noppen M.	2004	LBP, CCL11
9	Levels of superoxide dismutase and malondialdehyde in primary spontaneous pneumothorax. (15223614)	Tabakoglu E.... Caglar T.	2004	SOD1
10	Familial spontaneous pneumothorax and FBN1 mutations. (15161620)	Cardy C.M.... Thornley P.E.	2004	FBN1
11	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
12	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
13	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

Genes related to spontaneous pneumothorax according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	FLCN	folliculin	11.0	Publications
2	LBP	lipopolysaccharide binding protein	11.0	Publications
3	CCL11	chemokine (C-C motif) ligand 11	11.0	Publications
4	FBN1	fibrillin 1	11.0	Publications
5	ELANE	elastase, neutrophil expressed	11.0	Publications
6	CD36	CD36 molecule (thrombospondin receptor)	11.0	Publications
7	SOD1	superoxide dismutase 1, soluble	11.0	Publications

Pathways related to spontaneous pneumothorax according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Immune response_TLR signaling pathways41	9.6	LBP, CCL11
2	Immune response Toll-like receptor (TLR) ligands and common TLR signaling pathway leading to cell proinflammatory response10	9.3	LBP, CCL11
3	Selected targets of C/EBPalpha10	8.9	CD36, ELANE

Compounds related to spontaneous pneumothorax according to GeneDecks:

(show all 29)

id	Compound	Score	Top Affiliating Genes
1	luminol32	9.9	CCL11, SOD1
2	polysulfone32	9.7	ELANE, LBP
3	desmosine32	9.7	ELANE, FBN1
4	dihydrolipoic acid32 9 9	11.7	SOD1, ELANE
5	rolipram32 42	10.7	CCL11, ELANE
6	dermatan sulfate32	9.7	CD36
7	ulinastatin32	9.7	ELANE, SOD1
8	hocl32	9.6	SOD1, ELANE
9	fluticasone propionate32 42 9 9	12.6	ELANE, CCL11
10	nitroglycerin32 9 9	11.4	SOD1, ELANE
11	budesonide32 42 9 9	12.4	CD36, CCL11
12	psgag32	9.4	ELANE, CD36
13	tannins32	9.4	ELANE, CD36
14	(4-aminophenyl)mercuric acetate32	9.4	ELANE, CD36
15	pmsf32	9.3	CD36, ELANE
16	endotoxin32	9.3	LBP, CCL11, ELANE
17	alginate32	9.2	ELANE, CD36
18	batimastat32 42 9 9	12.1	CD36, ELANE
19	alpha tocopherol32	8.9	SOD1, ELANE, CD36
20	ascorbic acid32 18	9.8	SOD1, CD36, FBN1
21	alanine32	8.8	SOD1, FBN1, LBP, CCL11
22	superoxide32 18	9.8	CCL11, ELANE, SOD1, LBP
23	captopril32 42 9 9	11.7	CD36, ELANE
24	vitamin d32	8.7	CD36, FBN1, ELANE
25	hyaluronic acid32 18	9.4	CCL11, ELANE, FBN1, CD36
26	oxygen32 18	9.3	CCL11, FBN1, SOD1, LBP, ELANE
27	retinoic acid32 42 18	10.1	ELANE, CCL11, CD36, FBN1
28	heparin32 9 18 9	11.0	CD36, CCL11, FBN1, LBP, ELANE
29	cysteine32	7.9	SOD1, ELANE, FBN1, CD36

Cellular components related to spontaneous pneumothorax according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:005615	8.6	LBP, FBN1, CCL11, SOD1
2	extracellular region	GO:005576	7.6	LBP, FBN1, CCL11, ELANE, SOD1

Biological processes related to spontaneous pneumothorax according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to lipoteichoic acid	GO:071223	9.3	LBP, CD36
2	positive regulation of tumor necrosis factor production	GO:032760	9.2	CD36, LBP
3	cellular response to lipopolysaccharide	GO:071222	9.2	LBP, CD36
4	positive regulation of interleukin-6 production	GO:032755	9.1	CD36, LBP
5	defense response to Gram-positive bacterium	GO:050830	8.9	LBP, CD36
6	negative regulation of growth of symbiont in host	GO:044130	8.7	ELANE, CD36, LBP

Molecular functions related to spontaneous pneumothorax according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	Gram-negative bacterial cell surface binding	GO:051636	9.2	LBP, CD36
2	Gram-positive bacterial cell surface binding	GO:051637	8.9	LBP, CD36