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

Aliases & Descriptions for Pulmonary Surfactant Metabolism Dysfunction:

Name: Pulmonary Surfactant Metabolism Dysfunction 24 29
Pulmonary Alveolar Proteinosis 24 69
Lung Diseases, Interstitial 69
Interstitial Lung Disease 24
Surfactant Dysfunction 69

Classifications:



Summaries for Pulmonary Surfactant Metabolism Dysfunction

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 snoring. An important gene associated with Pulmonary Surfactant Metabolism Dysfunction is SFTPC (Surfactant Protein C), and among its related pathways/superpathways are Metabolism of proteins and HIV Life Cycle. The drugs Nitric Oxide and Calfactant have been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotype is respiratory system.

Related Diseases for Pulmonary Surfactant Metabolism Dysfunction

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)
id Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis 12.6
2 interstitial lung disease 12.5
3 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 12.3
4 children's interstitial lung disease 12.3
5 abca3-related pulmonary surfactant metabolism dysfunction 12.2
6 csf2ra-related pulmonary surfactant metabolism dysfunction 12.2
7 sftpb-related pulmonary surfactant metabolism dysfunction 12.2
8 csfrb-related pulmonary surfactant metabolism dysfunction 12.2
9 sftpc-related pulmonary surfactant metabolism dysfunction 12.2
10 respiratory bronchiolitis-interstitial lung disease syndrome 12.1
11 drug or radiation exposure-related interstitial lung disease 11.9
12 surfactant metabolism dysfunction, pulmonary, 1 11.9
13 surfactant metabolism dysfunction, pulmonary, 2 11.9
14 surfactant metabolism dysfunction, pulmonary, 3 11.9
15 surfactant metabolism dysfunction, pulmonary, 5 11.9
16 surfactant metabolism dysfunction, pulmonary, 4 11.9
17 interstitial pneumonitis, desquamative, familial 11.6
18 autoimmune interstitial lung, joint, and kidney disease 11.5
19 antisynthetase syndrome 11.3
20 pulmonary fibrosis 11.3
21 dermatomyositis 11.3
22 surfactant dysfunction 11.2
23 pulmonary alveolar proteinosis, acquired 11.1
24 behavioral variant of frontotemporal dementia 10.2 CSF2RA CSF2RB
25 transverse myelitis 10.2 SFTPB SFTPD
26 imperforate anus 10.1 SFTPB SFTPC
27 idiopathic interstitial pneumonia 10.1 SFTPA1 SFTPA2
28 ectodermal dysplasia with natal teeth, turnpenny type 10.1 SFTPA1 SFTPB SFTPC
29 apocrine adenocarcinoma 10.1 SFTPA1 SFTPA2
30 folic acid deficiency anemia 10.1 SFTPA1 SFTPA2
31 conjunctivochalasis 10.1 SFTPB SFTPC SFTPD
32 scn9a-related inherited erythromelalgia 10.1 SFTPA1 SFTPA2 SFTPC
33 adnp syndrome 10.1 SFTPB SFTPC SFTPD
34 oliver syndrome 10.1 SFTPA1 SFTPA2
35 rectum squamous cell carcinoma 10.0 SFTPB SFTPC SFTPD
36 lipid-rich carcinoma 10.0 ABCA3 SFTPC
37 osteochondritis dissecans 10.0 ABCA3 SFTPA2 SFTPB SFTPC
38 cranial nerve malignant neoplasm 10.0 SFTPA1 SFTPA2 SFTPD
39 back pain 10.0 ABCA3 SFTPA1 SFTPB SFTPC
40 dissociated nystagmus 10.0 SFTPA2 SFTPD
41 anogenital venereal wart 10.0 ABCA3 SFTPB SFTPC SFTPD
42 nervous system cancer 10.0 ABCA3 SFTPB SFTPC SFTPD
43 subcorneal pustular dermatosis 9.9 ABCA3 SFTPB SFTPC SFTPD
44 malignant neoplasm of acoustic nerve 9.9 SFTPA1 SFTPA2 SFTPC SFTPD
45 renal tubular acidosis 9.9 SFTPA1 SFTPA2 SFTPC SFTPD
46 common wart 9.8 ABCA3 SFTPA1 SFTPB SFTPC SFTPD
47 aortic aneurysm, familial thoracic 6 9.8 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
48 neurotrophic keratoconjunctivitis 9.7 CSF2RA CSF2RB MARS SFTPB SFTPC SFTPD
49 renal tubular dysgenesis, agt-related 8.5 ABCA3 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

UMLS symptoms related to Pulmonary Surfactant Metabolism Dysfunction:


hemoptysis, coughing, snoring

MGI Mouse Phenotypes related to Pulmonary Surfactant Metabolism Dysfunction:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.1 ABCA3 CSF2RB SFTPA1 SFTPB SFTPC SFTPD

Drugs & Therapeutics for Pulmonary Surfactant Metabolism Dysfunction

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

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 3 10102-43-9 145068
2
Calfactant Approved Phase 3 183325-78-2
3 Neurotransmitter Agents Phase 3
4 Peripheral Nervous System Agents Phase 3
5 Vasodilator Agents Phase 3
6 Endothelium-Dependent Relaxing Factors Phase 3
7 Anti-Asthmatic Agents Phase 3
8 Protective Agents Phase 3
9 Pulmonary Surfactants Phase 3
10 Respiratory System Agents Phase 3
11 Autonomic Agents Phase 3
12 Bronchodilator Agents Phase 3
13 Antioxidants Phase 3
14 vitamin d
15 Trace Elements
16 Vitamins
17 Micronutrients
18 Bone Density Conservation Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Trial of Late Surfactant for Prevention of Bronchopulmonary Dysplasia Unknown status NCT01022580 Phase 3
2 Trial of Late Surfactant to Prevent BPD: A Pilot Study in Ventilated Preterm Neonates Receiving Inhaled Nitric Oxide Completed NCT00569530 Phase 3
3 The Effect of Maternal and Neonatal Vitamin D Levels on Respiratory Distress Syndrome in Preterm Infants Completed NCT02024490

Search NIH Clinical Center for Pulmonary Surfactant Metabolism Dysfunction

Genetic Tests for Pulmonary Surfactant Metabolism Dysfunction

Genetic tests related to Pulmonary Surfactant Metabolism Dysfunction:

id Genetic test Affiliating Genes
1 Pulmonary Surfactant Metabolism Dysfunction 29 24 SFTPC ABCA3 CSF2RA CSF2RB SFTPB

Anatomical Context for Pulmonary Surfactant Metabolism Dysfunction

MalaCards organs/tissues related to Pulmonary Surfactant Metabolism Dysfunction:

39
Lung

Publications for Pulmonary Surfactant Metabolism Dysfunction

Variations for Pulmonary Surfactant Metabolism Dysfunction

ClinVar genetic disease variations for Pulmonary Surfactant Metabolism Dysfunction:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MARS NM_004990.3(MARS): c.1814A> T (p.Asp605Val) single nucleotide variant Pathogenic rs756021768 GRCh38 Chromosome 12, 57512811: 57512811
2 ABCA3 NM_001089.2(ABCA3): c.128G> A (p.Arg43His) single nucleotide variant Pathogenic rs754714105 GRCh38 Chromosome 16, 2326201: 2326201

Expression for Pulmonary Surfactant Metabolism Dysfunction

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

Pathways for Pulmonary Surfactant Metabolism Dysfunction

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 ABCA3 CCDC59 CSF2RA CSF2RB SFTA3 SFTPA1
2
Show member pathways
13.39 CCDC59 CSF2RA CSF2RB SFTA3 SFTPA1 SFTPA2
3 11.79 SFTPA1 SFTPA2 SFTPD
4
Show member pathways
11.64 CCDC59 CSF2RA CSF2RB SFTA3 SFTPA1 SFTPA2
5
Show member pathways
11.53 ABCA3 CCDC59 CSF2RA CSF2RB SFTA3 SFTPA1
6 11.38 SFTPA1 SFTPA2 SFTPC
7
Show member pathways
11.21 SFTPA1 SFTPA2 SFTPD
8
Show member pathways
10.62 CSF2RA CSF2RB SFTA3 SFTPA1 SFTPA2 SFTPB

GO Terms for Pulmonary Surfactant Metabolism Dysfunction

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.98 CSF2RA SFTA3 SFTPA1 SFTPA2 SFTPB SFTPC
2 extracellular space GO:0005615 9.88 ABCA3 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
3 endoplasmic reticulum membrane GO:0005789 9.63 SFTA3 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
4 collagen trimer GO:0005581 9.54 SFTPA1 SFTPA2 SFTPD
5 clathrin-coated endocytic vesicle GO:0045334 9.43 SFTA3 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
6 multivesicular body lumen GO:0097486 9.32 SFTPB SFTPC
7 alveolar lamellar body GO:0097208 9.26 ABCA3 SFTPB
8 lamellar body GO:0042599 9.1 SFTA3 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD

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

id Name GO ID Score Top Affiliating Genes
1 respiratory gaseous exchange GO:0007585 9.43 CSF2RB SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
2 cellular protein metabolic process GO:0044267 9.36 ABCA3 CCDC59 CSF2RA CSF2RB SFTA3 SFTPA1
3 toll-like receptor signaling pathway GO:0002224 9.33 SFTPA1 SFTPA2 SFTPD

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

id Name GO ID Score Top Affiliating Genes
1 carbohydrate binding GO:0030246 9.33 SFTPA1 SFTPA2 SFTPD
2 cytokine receptor activity GO:0004896 8.96 CSF2RA CSF2RB
3 lipid transporter activity GO:0005319 8.62 ABCA3 SFTPA1

Sources for Pulmonary Surfactant Metabolism Dysfunction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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