MCID: PLM071
MIFTS: 35

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 27
Pulmonary Alveolar Proteinosis 24 68
Lung Diseases, Interstitial 68
 
Interstitial Lung Disease 24
Surfactant Dysfunction 68

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 SFTPC (Surfactant Protein C), and among its related pathways are Lung fibrosis and FOXA1 transcription factor network. 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 all 49)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary alveolar proteinosis12.6
2interstitial lung disease12.5
3interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital12.3
4children's interstitial lung disease12.3
5abca3-related pulmonary surfactant metabolism dysfunction12.2
6csf2ra-related pulmonary surfactant metabolism dysfunction12.2
7sftpb-related pulmonary surfactant metabolism dysfunction12.2
8csfrb-related pulmonary surfactant metabolism dysfunction12.2
9sftpc-related pulmonary surfactant metabolism dysfunction12.2
10respiratory bronchiolitis-interstitial lung disease syndrome12.1
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 disease11.5
19antisynthetase syndrome11.3
20pulmonary fibrosis11.3
21dermatomyositis11.3
22surfactant dysfunction11.2
23pulmonary alveolar proteinosis, acquired11.1
24behavioral variant of frontotemporal dementia10.2CSF2RA, CSF2RB
25transverse myelitis10.2SFTPB, SFTPD
26imperforate anus10.1SFTPB, SFTPC
27idiopathic interstitial pneumonia10.1SFTPA1, SFTPA2
28ectodermal dysplasia with natal teeth, turnpenny type10.1SFTPA1, SFTPB, SFTPC
29apocrine adenocarcinoma10.1SFTPA1, SFTPA2
30folic acid deficiency anemia10.1SFTPA1, SFTPA2
31conjunctivochalasis10.1SFTPB, SFTPC, SFTPD
32scn9a-related inherited erythromelalgia10.1SFTPA1, SFTPA2, SFTPC
33adnp syndrome10.1SFTPB, SFTPC, SFTPD
34oliver syndrome10.1SFTPA1, SFTPA2
35rectum squamous cell carcinoma10.0SFTPB, SFTPC, SFTPD
36lipid-rich carcinoma10.0ABCA3, SFTPC
37osteochondritis dissecans10.0ABCA3, SFTPA2, SFTPB, SFTPC
38cranial nerve malignant neoplasm10.0SFTPA1, SFTPA2, SFTPD
39back pain10.0ABCA3, SFTPA1, SFTPB, SFTPC
40dissociated nystagmus10.0SFTPA2, SFTPD
41anogenital venereal wart10.0ABCA3, SFTPB, SFTPC, SFTPD
42nervous system cancer10.0ABCA3, SFTPB, SFTPC, SFTPD
43subcorneal pustular dermatosis9.9ABCA3, SFTPB, SFTPC, SFTPD
44malignant neoplasm of acoustic nerve9.9SFTPA1, SFTPA2, SFTPC, SFTPD
45renal tubular acidosis9.9SFTPA1, SFTPA2, SFTPC, SFTPD
46common wart9.8ABCA3, SFTPA1, SFTPB, SFTPC, SFTPD
47aortic aneurysm, familial thoracic 69.8SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD
48neurotrophic keratoconjunctivitis9.7CSF2RA, CSF2RB, MARS, SFTPB, SFTPC, SFTPD
49renal tubular dysgenesis, agt-related8.5ABCA3, CCDC59, CSF2RA, CSF2RB, MARS, SFTA3

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



Diseases related to pulmonary surfactant metabolism dysfunction

Symptoms & Phenotypes for Pulmonary Surfactant Metabolism Dysfunction

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UMLS symptoms related to Pulmonary Surfactant Metabolism Dysfunction:


hemoptysis, coughing, snoring

MGI Mouse Phenotypes related to Pulmonary Surfactant Metabolism Dysfunction according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.4ABCA3, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD

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 313183325-78-2
Synonyms:
 
Calf lung surfactant extract (CLSE)
2
Nitric OxideapprovedPhase 361710102-43-9145068
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 33488
4Protective AgentsPhase 37443
5Pulmonary SurfactantsPhase 3111
6Vasodilator AgentsPhase 33543
7Respiratory System AgentsPhase 34997
8Peripheral Nervous System AgentsPhase 323689
9Neurotransmitter AgentsPhase 318340
10Autonomic AgentsPhase 310150
11AntioxidantsPhase 33050
12Bronchodilator AgentsPhase 32965
13Endothelium-Dependent Relaxing FactorsPhase 3281
14vitamin d1724
15Vitamins5282
16Micronutrients6001
17Bone Density Conservation Agents3376
18Trace Elements6001

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 Dysfunction27 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:

36
Lung

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
19.4SFTPA1, SFTPA2, SFTPC
2
Show member pathways
9.2SFTPA1, SFTPA2, SFTPD
39.2SFTPA1, SFTPA2, SFTPD
4
Show member pathways
7.5CSF2RA, CSF2RB, SFTA3, SFTPA1, SFTPA2, SFTPB
5
Show member pathways
6.2CCDC59, CSF2RA, CSF2RB, SFTA3, SFTPA1, SFTPA2
6
Show member pathways
6.2CCDC59, CSF2RA, CSF2RB, SFTA3, SFTPA1, SFTPA2
7
Show member pathways
5.9ABCA3, CCDC59, CSF2RA, CSF2RB, SFTA3, SFTPA1
8
Show member pathways
5.9ABCA3, 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
1alveolar lamellar bodyGO:009720810.7ABCA3, SFTPB
2collagen trimerGO:000558110.0SFTPA1, SFTPA2, SFTPD
3multivesicular body lumenGO:00974869.9SFTPB, SFTPC
4clathrin-coated endocytic vesicleGO:00453349.0SFTA3, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD
5endoplasmic reticulum membraneGO:00057898.9SFTA3, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD
6extracellular spaceGO:00056158.7ABCA3, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD
7extracellular regionGO:00055768.6CSF2RA, SFTA3, SFTPA1, SFTPA2, SFTPB, SFTPC
8lamellar bodyGO:00425998.3SFTA3, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD

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

idNameGO IDScoreTop Affiliating Genes
1toll-like receptor signaling pathwayGO:00022249.2SFTPA1, SFTPA2, SFTPD
2respiratory gaseous exchangeGO:00075858.8CSF2RB, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD
3cellular protein metabolic processGO:00442676.4ABCA3, CCDC59, CSF2RA, CSF2RB, SFTA3, SFTPA1

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

idNameGO IDScoreTop Affiliating Genes
1cytokine receptor activityGO:000489610.2CSF2RA, CSF2RB
2lipid transporter activityGO:00053199.7ABCA3, SFTPA1
3carbohydrate bindingGO:00302469.7SFTPA1, SFTPA2, SFTPD

Sources for Pulmonary Surfactant Metabolism Dysfunction

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet