Pulmonary Surfactant Metabolism Dysfunction malady

Genetics Home Reference: Surfactant dysfunction is a lung disorder that causes breathing problems. This condition results from abnormalities in the composition or function of surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. Without normal surfactant, the tissue surrounding the air sacs in the lungs (the alveoli) sticks together (because of a force called surface tension) after exhalation, causing the alveoli to collapse. As a result, filling the lungs with air on each breath becomes very difficult, and the delivery of oxygen to the body is impaired.¹⁷

MalaCards: Pulmonary Surfactant Metabolism Dysfunction, also known as pulmonary alveolar proteinosis (disorder), is related to interstitial lung disease and pulmonary hypertension. An important gene associated with Pulmonary Surfactant Metabolism Dysfunction is SFTPC (surfactant protein C). The compounds infasurf and dppg have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotype respiratory system.

pulmonary surfactant metabolism dysfunction 16 pulmonary alveolar proteinosis (disorder) 16 pulmonary alveolar proteinosis 43

lung diseases, interstitial 43 interstitial lung disease 16 functional disorder 43

Disease types for pulmonary surfactant metabolism dysfunction family:

surfactant metabolism dysfunction, pulmonary, 2

Diseases related to pulmonary surfactant metabolism dysfunction by text searches and GeneDecks gene sharing:

(show top 50)    (show all 76)

id	Related Disease	Score	Top Affiliating Genes
1	interstitial lung disease	38.3	SFTPC, SFTPB
2	pulmonary hypertension	31.4	SFTPB, SFTPC
3	pulmonary fibrosis	30.2	SFTPC, SFTPB, ABCA3
4	idiopathic pulmonary fibrosis	29.9	SFTPB, SFTPC
5	surfactant deficiency	29.4	SFTPB, SFTPC, ABCA3
6	protein s deficiency	28.4	SFTPC, SFTPB
7	pulmonary alveolar proteinosis	27.9	CSF2RB, CSF2RA, ABCA3, SFTPB, SFTPC
8	large cell carcinoma	12.8	SFTPC, SFTPB
9	adult respiratory distress syndrome	12.8	SFTPB, SFTPC
10	newborn respiratory distress syndrome	12.7	SFTPB, SFTPC
11	cerebellar hypoplasia	12.7	SFTPC, SFTPB
12	congenital diaphragmatic hernia	12.6	SFTPB, SFTPC
13	bronchopulmonary dysplasia	12.6	SFTPB, SFTPC
14	non-small cell lung carcinoma	12.4	SFTPB, SFTPC
15	cblc	12.3	CSF2RB, CSF2RA
16	lung benign neoplasm	12.2	SFTPC, SFTPB
17	cork-handlers' disease	12.0	SFTPB, SFTPC, ABCA3
18	respiratory failure	11.4	SFTPB, CSF2RA, ABCA3, SFTPC
19	congenital pulmonary alveolar proteinosis	10.0
20	pulmonary alveolar proteinosis acquired	9.6
21	abca3-related pulmonary surfactant metabolism dysfunction	9.0
22	csf2ra-related pulmonary surfactant metabolism dysfunction	9.0
23	sftpb-related pulmonary surfactant metabolism dysfunction	9.0
24	sftpc-related pulmonary surfactant metabolism dysfunction	8.5
25	hypertension	8.2
26	arthritis	7.8
27	fibrosis	7.8
28	lung cancer	7.8
29	rheumatoid arthritis	7.8
30	scleroderma	7.8
31	surfactant metabolism dysfunction, pulmonary, 2	7.6
32	cholesterol	7.5
33	leukemia	7.5
34	lymphoid leukemia	7.5
35	lysinuric protein intolerance	7.5
36	mediastinitis	7.5
37	myelodysplastic syndrome	7.5
38	children's interstitial lung disease	7.3
39	dermatomyositis	7.3
40	polymyositis	7.3
41	rheumatoid arthritis, association with	7.3
42	respiratory bronchiolitis-associated interstitial lung disease	7.3
43	antisynthetase syndrome	6.4
44	pneumoconiosis	6.4
45	bagassosis	6.4
46	protein c deficiency	6.4
47	cystic fibrosis	6.4
48	dermatitis	6.4
49	sarcoidosis	6.4
50	emphysema	6.4

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to pulmonary surfactant metabolism dysfunction:

²²

MGI Mouse Phenotypes related to pulmonary surfactant metabolism dysfunction:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	INF	SFTPB, SFTPC, ABCA3,

Genes related to pulmonary surfactant metabolism dysfunction according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SFTPC	surfactant protein C	11.1	Summaries
2	SFTPB	surfactant protein B	11.1	Summaries
3	CSF2RA	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	11.0
4	ABCA3	ATP-binding cassette, sub-family A (ABC1), member 3	11.0

Compounds related to pulmonary surfactant metabolism dysfunction according to GeneDecks:

(show all 19)

id	Compound	Score	Top Affiliating Genes
1	infasurf32	9.7	SFTPC, SFTPB
2	dppg32	9.7	SFTPB, SFTPC
3	popg32	9.6	SFTPB, SFTPC
4	1,2-dipalmitoyl-sn-glycero-3-phosphocholine32	9.6	SFTPB, SFTPC
5	curosurf32	9.6	SFTPB, SFTPC
6	dopc32	9.6	SFTPB, SFTPC
7	survanta32	9.6	SFTPC, SFTPB
8	dppc32	9.6	SFTPB, SFTPC
9	p-opc32	9.6	SFTPC, SFTPB
10	butanol32	9.5	SFTPC, SFTPB
11	chloroform32	9.5	SFTPC, SFTPB
12	methanol32 18	10.5	SFTPC, SFTPB
13	isoleucine32	9.4	SFTPB, SFTPC
14	doxycycline32 9 9	11.4	SFTPC, SFTPB
15	peroxynitrite32	9.3	SFTPC, SFTPB
16	ibmx32	9.3	SFTPB, SFTPC
17	bleomycin32 9 9	11.2	SFTPC, SFTPB
18	palmitate32	9.0	SFTPB, SFTPC
19	Sargramostim9 9	INF	, CSF2RA

Cellular components related to pulmonary surfactant metabolism dysfunction according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	multivesicular body	GO:005771	9.3	SFTPB, SFTPC
2	lamellar body	GO:042599	9.0	SFTPB, SFTPC

Biological processes related to pulmonary surfactant metabolism dysfunction according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	response to interleukin-6	GO:070741	9.5	SFTPC, SFTPB
2	cellular response to nitric oxide	GO:071732	9.5	SFTPB, SFTPC
3	response to hyperoxia	GO:055093	9.4	SFTPB, SFTPC
4	circadian rhythm	GO:007623	9.4	SFTPB, SFTPC
5	cellular response to mechanical stimulus	GO:071260	9.3	SFTPC, SFTPB
6	response to lipopolysaccharide	GO:032496	9.3	SFTPC, SFTPB
7	response to glucose stimulus	GO:009749	9.2	SFTPB, SFTPC
8	response to glucocorticoid stimulus	GO:051384	9.0	SFTPB, SFTPC
9	respiratory gaseous exchange	GO:007585	INF	SFTPB, SFTPC,