MCID: PLM071
MIFTS: 29

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 22 24
Pulmonary Alveolar Proteinosis 22 65
Lung Diseases, Interstitial 65
 
Interstitial Lung Disease 22
Surfactant Dysfunction 65

Classifications:



External Ids:

UMLS65 C3711368

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 acquired pulmonary alveolar proteinosis. An important gene associated with Pulmonary Surfactant Metabolism Dysfunction is SFTPC (Surfactant Protein C), and among its related pathways are FOXA1 transcription factor network and Phagosome. Affiliated tissues include lung, 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 top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary alveolar proteinosis12.9
2acquired pulmonary alveolar proteinosis12.9
3congenital pulmonary alveolar proteinosis12.8
4interstitial lung disease12.8
5abca3-related pulmonary surfactant metabolism dysfunction12.7
6csf2ra-related pulmonary surfactant metabolism dysfunction12.7
7sftpb-related pulmonary surfactant metabolism dysfunction12.7
8interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital12.7
9hereditary pulmonary alveolar proteinosis12.7
10severe early-onset pulmonary alveolar proteinosis due to mars deficiency12.7
11sftpc-related pulmonary surfactant metabolism dysfunction12.7
12secondary pulmonary alveolar proteinosis12.7
13children's interstitial lung disease12.6
14respiratory bronchiolitis-interstitial lung disease syndrome12.6
15interstitial lung disease due to sp-c deficiency12.5
16drug or radiation exposure-related interstitial lung disease12.4
17autoimmune interstitial lung disease-arthritis syndrome12.4
18surfactant metabolism dysfunction, pulmonary, 112.2
19surfactant metabolism dysfunction, pulmonary, 212.2
20surfactant metabolism dysfunction, pulmonary, 312.2
21surfactant metabolism dysfunction, pulmonary, 512.2
22surfactant metabolism dysfunction, pulmonary, 412.2
23interstitial lung and liver disease12.0
24surfactant dysfunction11.7
25congenital lactic acidosis, saguenay-lac-saint-jean type10.4SFTPB, SFTPC
26preaxial polydactyly-colobomata-intellectual disability syndrome10.3CSF2RA, CSF2RB
27localized pulmonary fibrosis10.3ABCA3, SFTPC
28brucella canis brucellosis10.2SFTPA1, SFTPA2
29esophageal atresia10.2SFTPB, SFTPC
30bronchiolo-alveolar adenocarcinoma10.2SFTPA1, SFTPA2
31peritoneal serous adenocarcinoma10.1NKX2-1, SFTPB
32kidney sarcoma10.1SFTPB, SFTPC, SFTPD
33rasa1-related disorders10.1SFTPA1, SFTPA2, SFTPC
34hilar lung neoplasm10.1NKX2-1, SFTPB
35cerebellar disease10.1SFTPA1, SFTPA2
36postpoliomyelitis syndrome10.1NKX2-1, SFTPB
37keratinizing squamous cell carcinoma10.1SFTPB, SFTPC, SFTPD
38prepuce cancer10.1SFTPA1, SFTPD
39chronic respiratory distress with surfactant metabolism deficiency10.0NKX2-1, TTF1
40restless legs syndrome 210.0NKX2-1, TTF1
41acute zonal occult outer retinopathy10.0SFTPB, SFTPC
42choreoathetosis, hypothyroidism, and neonatal respiratory distress10.0NKX2-1, TTF1
43deafness, autosomal recessive 6210.0SFTPA1, SFTPD
44nonspecific interstitial pneumonia10.0SFTPA1, SFTPA2, SFTPD
45hartnup disorder10.0NKX2-1, SFTPB, SFTPC
46respiratory failure10.0ABCA3, SFTPA1, SFTPB, SFTPC
47transcobalamin deficiency10.0ABCA3, SFTPA1, SFTPB, SFTPC
48postinflammatory pulmonary fibrosis10.0CSF2RA, SFTPB, SFTPC, SFTPD
49melas syndrome9.9NKX2-1, SFTPC
50pulmonary sarcoidosis9.8SFTPA1, SFTPA2, SFTPC, SFTPD

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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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 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Nitric OxideapprovedPhase 356410102-43-9145068
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)
Inomax
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
2Protective AgentsPhase 35651
3Pulmonary SurfactantsPhase 3101
4Respiratory System AgentsPhase 33931
5Vasodilator AgentsPhase 32926
6AntioxidantsPhase 32442
7Peripheral Nervous System AgentsPhase 318510
8Bronchodilator AgentsPhase 32377
9Anti-Asthmatic AgentsPhase 32796
10CalfactantPhase 310
11Endothelium-Dependent Relaxing FactorsPhase 3225
12Neurotransmitter AgentsPhase 314795
13Vitamins3857
14vitamin d1524

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Late Surfactant to Prevent BPD: A Pilot Study in Ventilated Preterm Neonates Receiving Inhaled Nitric OxideActive, not recruitingNCT00569530Phase 3
2Trial of Late Surfactant for Prevention of Bronchopulmonary DysplasiaActive, not recruitingNCT01022580Phase 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 Dysfunction22 SFTPC

Anatomical Context for Pulmonary Surfactant Metabolism Dysfunction

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MalaCards organs/tissues related to Pulmonary Surfactant Metabolism Dysfunction:

33
Lung

Animal Models for Pulmonary Surfactant Metabolism Dysfunction or affiliated genes

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MGI Mouse Phenotypes related to Pulmonary Surfactant Metabolism Dysfunction:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053887.9ABCA3, CSF2RB, NKX2-1, SFTPA1, SFTPB, SFTPC

Publications for Pulmonary Surfactant Metabolism Dysfunction

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Variations for Pulmonary Surfactant Metabolism Dysfunction

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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
9.2SFTPA1, SFTPA2, SFTPD
29.2SFTPA1, SFTPA2, SFTPD
3
Show member pathways
8.7SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD
4
Show member pathways
7.4CSF2RA, CSF2RB, SFTA3, SFTPA1, SFTPA2, SFTPB
5
Show member pathways
5.5CCDC59, CSF2RA, CSF2RB, NKX2-1, SFTA3, SFTPA1
6
Show member pathways
5.5CCDC59, CSF2RA, CSF2RB, NKX2-1, SFTA3, SFTPA1
7
Show member pathways
5.2ABCA3, CCDC59, CSF2RA, CSF2RB, NKX2-1, SFTA3
8
Show member pathways
5.2ABCA3, CCDC59, CSF2RA, CSF2RB, NKX2-1, SFTA3

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:009748610.4SFTPB, SFTPC
2clathrin-coated endocytic vesicleGO:004533410.0SFTPB, SFTPD
3collagen trimerGO:00055819.6SFTPA1, SFTPA2, SFTPD
4extracellular spaceGO:00056159.2SFTPA1, SFTPA2, SFTPB, SFTPD
5endoplasmic reticulum membraneGO:00057898.8SFTA3, SFTPA1, SFTPA2, SFTPC
6extracellular regionGO:00055768.1SFTA3, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD

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

idNameGO IDScoreTop Affiliating Genes
1lipid transportGO:00068699.7ABCA3, SFTPA1

Sources for Pulmonary Surfactant Metabolism Dysfunction

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet