MCID: PLM071
MIFTS: 36

Pulmonary Surfactant Metabolism Dysfunction malady

Categories: Genetic diseases, Respiratory diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Pulmonary Surfactant Metabolism Dysfunction

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Aliases & Descriptions for Pulmonary Surfactant Metabolism Dysfunction:

Name: Pulmonary Surfactant Metabolism Dysfunction 24 26
Pulmonary Alveolar Proteinosis 24 67
Lung Diseases, Interstitial 67
 
Interstitial Lung Disease 24
Surfactant Dysfunction 67

Classifications:



Summaries for Pulmonary Surfactant Metabolism Dysfunction

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MalaCards based summary: Pulmonary Surfactant Metabolism Dysfunction, also known as pulmonary alveolar proteinosis, is related to pulmonary alveolar proteinosis and interstitial lung disease, and has symptoms including hemoptysis, coughing and hemoptysis. An important gene associated with Pulmonary Surfactant Metabolism Dysfunction is MARS (Methionyl-TRNA Synthetase), and among its related pathways are FOXA1 transcription factor network and Phagosome. Affiliated tissues include lung and bone, and related mouse phenotype respiratory system.

Related Diseases for Pulmonary Surfactant Metabolism Dysfunction

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Diseases in the Pulmonary Surfactant Metabolism Dysfunction family:

Surfactant Metabolism Dysfunction, Pulmonary, 1 Surfactant Metabolism Dysfunction, Pulmonary, 2
Surfactant Metabolism Dysfunction, Pulmonary, 3 Surfactant Metabolism Dysfunction, Pulmonary, 5
Surfactant Metabolism Dysfunction, Pulmonary, 4 Abca3-Related Pulmonary Surfactant Metabolism Dysfunction
Csf2ra-Related Pulmonary Surfactant Metabolism Dysfunction Sftpb-Related Pulmonary Surfactant Metabolism Dysfunction
Sftpc-Related Pulmonary Surfactant Metabolism Dysfunction

Diseases related to Pulmonary Surfactant Metabolism Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary alveolar proteinosis12.6
2interstitial lung disease12.5
3interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital12.3
4abca3-related pulmonary surfactant metabolism dysfunction12.2
5csf2ra-related pulmonary surfactant metabolism dysfunction12.2
6sftpb-related pulmonary surfactant metabolism dysfunction12.2
7csfrb-related pulmonary surfactant metabolism dysfunction12.2
8sftpc-related pulmonary surfactant metabolism dysfunction12.2
9respiratory bronchiolitis-interstitial lung disease syndrome12.2
10children's interstitial lung disease12.1
11drug or radiation exposure-related interstitial lung disease11.9
12surfactant metabolism dysfunction, pulmonary, 111.9
13surfactant metabolism dysfunction, pulmonary, 211.9
14surfactant metabolism dysfunction, pulmonary, 311.9
15surfactant metabolism dysfunction, pulmonary, 511.9
16surfactant metabolism dysfunction, pulmonary, 411.9
17interstitial pneumonitis, desquamative, familial11.6
18autoimmune interstitial lung, joint, and kidney disease11.6
19pulmonary fibrosis11.3
20surfactant dysfunction11.2
21pulmonary alveolar proteinosis, acquired11.1
22distal trisomy 19q10.3CSF2RA, CSF2RB
23mounier-kuhn syndrome10.3SFTPB, SFTPD
24urethral villous adenoma10.3ABCA3, SFTPC
25anonychia with flexural pigmentation10.2SFTPA1, SFTPB, SFTPC
26algoneurodystrophy10.2SFTPA1, SFTPA2
27klatskin's tumor10.1SFTPA1, SFTPA2
28burns10.1SFTPA1, SFTPB, SFTPC
29ror2-related robinow syndrome10.1SFTPA1, SFTPA2, SFTPC
30coronary restenosis10.1SFTPB, SFTPC, SFTPD
31spermatic cord cancer10.0SFTPA2, SFTPD
32laryngeal tuberculosis10.0SFTPB, SFTPC, SFTPD
33deafness, autosomal recessive 6210.0SFTPA2, SFTPD
34intestinal atresia10.0SFTPB, SFTPC
35parasitic protozoa infectious disease9.9SFTPA1, SFTPA2
36nonspecific interstitial pneumonia9.9SFTPA2, SFTPC, SFTPD
37osteoarthritis9.9ABCA3, SFTPA2, SFTPB, SFTPC
38middle lobe syndrome9.9SFTPA1, SFTPA2, SFTPD
39band keratopathy9.9ABCA3, SFTPA1, SFTPB, SFTPC
40aids - neurological complications9.9ABCA3, SFTPA1, SFTPB, SFTPC
41gingivitis9.8ABCA3, SFTPB, SFTPC, SFTPD
42renal oncocytoma9.7SFTPA1, SFTPA2, SFTPC, SFTPD
43diamond-blackfan anemia 39.4SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD
44fundus dystrophy9.2ABCA3, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD
45episcleritis periodica fugax8.8CSF2RA, CSF2RB, MARS, SFTPA1, SFTPB, SFTPC
46rad51-related susceptibility to breast cancer6.9ABCA3, CCDC59, CSF2RA, CSF2RB, SFTA3, SFTPA1

Graphical network of the top 20 diseases related to Pulmonary Surfactant Metabolism Dysfunction:



Diseases related to pulmonary surfactant metabolism dysfunction

Symptoms for Pulmonary Surfactant Metabolism Dysfunction

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UMLS symptoms related to Pulmonary Surfactant Metabolism Dysfunction:


hemoptysis, coughing, snoring, pathergy reaction

Drugs & Therapeutics for Pulmonary Surfactant Metabolism Dysfunction

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Drugs for Pulmonary Surfactant Metabolism Dysfunction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CalfactantapprovedPhase 312183325-78-2
Synonyms:
 
Calf lung surfactant extract (CLSE)
2
Nitric OxideapprovedPhase 359910102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
3Anti-Asthmatic AgentsPhase 33369
4Protective AgentsPhase 37190
5Pulmonary SurfactantsPhase 3107
6Vasodilator AgentsPhase 33438
7Respiratory System AgentsPhase 34818
8Peripheral Nervous System AgentsPhase 322776
9Neurotransmitter AgentsPhase 317734
10Autonomic AgentsPhase 39774
11AntioxidantsPhase 32928
12Bronchodilator AgentsPhase 32856
13Endothelium-Dependent Relaxing FactorsPhase 3272
14vitamin d1653
15Vitamins5095
16Micronutrients5802
17Bone Density Conservation Agents3266
18Trace Elements5802

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Late Surfactant for Prevention of Bronchopulmonary DysplasiaUnknown statusNCT01022580Phase 3
2Trial of Late Surfactant to Prevent BPD: A Pilot Study in Ventilated Preterm Neonates Receiving Inhaled Nitric OxideCompletedNCT00569530Phase 3
3The Effect of Maternal and Neonatal Vitamin D Levels on Respiratory Distress Syndrome in Preterm InfantsCompletedNCT02024490

Search NIH Clinical Center for Pulmonary Surfactant Metabolism Dysfunction

Genetic Tests for Pulmonary Surfactant Metabolism Dysfunction

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Genetic tests related to Pulmonary Surfactant Metabolism Dysfunction:

id Genetic test Affiliating Genes
1 Pulmonary Surfactant Metabolism Dysfunction26 24 ABCA3, CSF2RA, CSF2RB, SFTPB, SFTPC

Anatomical Context for Pulmonary Surfactant Metabolism Dysfunction

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MalaCards organs/tissues related to Pulmonary Surfactant Metabolism Dysfunction:

35
Lung, Bone

Animal Models for Pulmonary Surfactant Metabolism Dysfunction or affiliated genes

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MGI Mouse Phenotypes related to Pulmonary Surfactant Metabolism Dysfunction:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.2ABCA3, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD

Publications for Pulmonary Surfactant Metabolism Dysfunction

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Variations for Pulmonary Surfactant Metabolism Dysfunction

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Clinvar genetic disease variations for Pulmonary Surfactant Metabolism Dysfunction:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MARSNM_004990.3(MARS): c.1814A> T (p.Asp605Val)SNVPathogenicrs756021768GRCh38Chr 12, 57512811: 57512811

Expression for genes affiliated with Pulmonary Surfactant Metabolism Dysfunction

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Search GEO for disease gene expression data for Pulmonary Surfactant Metabolism Dysfunction.

Pathways for genes affiliated with Pulmonary Surfactant Metabolism Dysfunction

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Pathways related to Pulmonary Surfactant Metabolism Dysfunction according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1SFTPA1, SFTPA2, SFTPD
29.1SFTPA1, SFTPA2, SFTPD
3
Show member pathways
5.8CCDC59, CSF2RA, CSF2RB, SFTA3, SFTPA1, SFTPA2
4
Show member pathways
5.5ABCA3, CCDC59, CSF2RA, CSF2RB, SFTA3, SFTPA1
5
Show member pathways
5.5ABCA3, CCDC59, CSF2RA, CSF2RB, SFTA3, SFTPA1

GO Terms for genes affiliated with Pulmonary Surfactant Metabolism Dysfunction

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Cellular components related to Pulmonary Surfactant Metabolism Dysfunction according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1multivesicular body lumenGO:009748610.5SFTPB, SFTPC
2alveolar lamellar bodyGO:009720810.4ABCA3, SFTPB
3collagen trimerGO:00055819.7SFTPA1, SFTPA2, SFTPD
4proteinaceous extracellular matrixGO:00055789.3SFTPA1, SFTPA2, SFTPD
5lamellar bodyGO:00425998.6SFTA3, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD
6clathrin-coated endocytic vesicleGO:00453348.2SFTA3, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD
7extracellular spaceGO:00056158.2ABCA3, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD
8endoplasmic reticulum membraneGO:00057897.6SFTA3, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD
9extracellular regionGO:00055767.5CSF2RA, SFTA3, SFTPA1, SFTPA2, SFTPB, SFTPC

Biological processes related to Pulmonary Surfactant Metabolism Dysfunction according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1respiratory gaseous exchangeGO:00075858.1CSF2RB, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD
2cellular protein metabolic processGO:00442675.5ABCA3, CCDC59, CSF2RA, CSF2RB, SFTA3, SFTPA1

Molecular functions related to Pulmonary Surfactant Metabolism Dysfunction according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lipid transporter activityGO:000531910.1ABCA3, SFTPA1
2carbohydrate bindingGO:00302469.1SFTPA1, SFTPA2, SFTPD

Sources for Pulmonary Surfactant Metabolism Dysfunction

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet