MCID: SRF003
MIFTS: 30

Surfactant Metabolism Dysfunction, Pulmonary, 2 malady

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

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 2

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Aliases & Descriptions for Surfactant Metabolism Dysfunction, Pulmonary, 2:

Name: Surfactant Metabolism Dysfunction, Pulmonary, 2 49 11 65
Pulmonary Surfactant Metabolism Dysfunction 2 67 24
Desquamative Interstitial Pneumonitis Due to Surfactant Protein C Deficiency 67
Interstitial Lung Disease Due to Surfactant Protein C Deficiency 67
 
Congenital Pulmonary Alveolar Proteinosis 2 67
Smdp2 67
Pap 67

Characteristics:

HPO:

61
surfactant metabolism dysfunction, pulmonary, 2:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: incomplete penetrance


Classifications:



External Ids:

OMIM49 610913
MedGen34 C1970470
MeSH36 D011649
UMLS65 C1970470

Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 2

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UniProtKB/Swiss-Prot:67 Pulmonary surfactant metabolism dysfunction 2: A rare disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course, due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.

MalaCards based summary: Surfactant Metabolism Dysfunction, Pulmonary, 2, also known as pulmonary surfactant metabolism dysfunction 2, is related to acquired pulmonary alveolar proteinosis and surfactant metabolism dysfunction, pulmonary, 4, and has symptoms including cyanosis, clubbing and failure to thrive. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 2 is SFTPC (Surfactant Protein C). Affiliated tissues include lung.

OMIM:49 Surfactant protein C (SPC) deficiency is a rare autosomal dominant disease associated with progressive respiratory... (610913) more...

Related Diseases for Surfactant Metabolism Dysfunction, Pulmonary, 2

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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 Surfactant Metabolism Dysfunction, Pulmonary, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 168)
idRelated DiseaseScoreTop Affiliating Genes
1acquired pulmonary alveolar proteinosis11.9
2surfactant metabolism dysfunction, pulmonary, 411.7
3sftpc-related pulmonary surfactant metabolism dysfunction11.7
4surfactant metabolism dysfunction, pulmonary, 111.6
5surfactant metabolism dysfunction, pulmonary, 511.6
6polydactyly, postaxial, types a1 and b11.6
7surfactant metabolism dysfunction, pulmonary, 311.2
8congenital pulmonary alveolar proteinosis11.2
9spondyloepiphyseal dysplasia tarda toledo type11.2
10hereditary pulmonary alveolar proteinosis11.2
11severe early-onset pulmonary alveolar proteinosis due to mars deficiency11.2
12secondary pulmonary alveolar proteinosis11.2
13vaginal cancer10.7
14pituitary adenoma, growth hormone-secreting10.4
15pulmonary alveolar proteinosis10.4
16endotheliitis10.3
17cervical cancer, somatic10.2
18psychologic vaginismus10.2
19cervix disease10.2
20adenocarcinoma10.2
21atrial fibrillation10.2
22sarcoma10.2
23vaginitis10.2
24systemic lupus erythematosus10.1
25breast cancer10.1
26dravet syndrome10.1
27congestive heart failure10.1
28hydrocephalus10.1
29dirofilariasis10.1
30dementia10.1
31prostatitis10.1
32melanoma10.1
33protein s deficiency10.1
34pancreatitis10.1
35adenoma10.1
36lupus erythematosus10.1
37pemphigus10.1
38toxoplasmosis10.1
39glioma10.1
40aneurysm10.1
41neuroblastoma9.9
42myocardial infarction9.9
43parathyroid carcinoma9.9
44prostate cancer9.9
45hepatocellular carcinoma9.9
46asthma9.9
47coronary artery disease9.9
48obesity9.9
49hepatitis c virus9.9
50osteoporosis9.9

Graphical network of the top 20 diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 2:



Diseases related to surfactant metabolism dysfunction, pulmonary, 2

Symptoms for Surfactant Metabolism Dysfunction, Pulmonary, 2

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Symptoms by clinical synopsis from OMIM:

610913

Clinical features from OMIM:

610913

HPO human phenotypes related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

(show all 9)
id Description Frequency HPO Source Accession
1 cyanosis HP:0000961
2 clubbing HP:0001217
3 failure to thrive HP:0001508
4 respiratory distress HP:0002098
5 recurrent respiratory infections HP:0002205
6 tachypnea HP:0002789
7 tubulointerstitial fibrosis HP:0005576
8 interstitial pneumonitis HP:0006515
9 alveolar proteinosis HP:0006517

Drugs & Therapeutics for Surfactant Metabolism Dysfunction, Pulmonary, 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Surfactant Metabolism Dysfunction, Pulmonary, 2

Genetic Tests for Surfactant Metabolism Dysfunction, Pulmonary, 2

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Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 2

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MalaCards organs/tissues related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

33
Lung

Animal Models for Surfactant Metabolism Dysfunction, Pulmonary, 2 or affiliated genes

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Publications for Surfactant Metabolism Dysfunction, Pulmonary, 2

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Variations for Surfactant Metabolism Dysfunction, Pulmonary, 2

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UniProtKB/Swiss-Prot genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 2:

67
id Symbol AA change Variation ID SNP ID
1SFTPCp.Ile73ThrVAR_026753
2SFTPCp.Ala116AspVAR_026754
3SFTPCp.Arg167GlnVAR_026755rs34957318
4SFTPCp.Leu188GlnVAR_026756
5SFTPCp.Glu66LysVAR_036855

Clinvar genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SFTPCSFTPC, IVS4DS, G-A, +1single nucleotide variantPathogenic
2SFTPCNM_003018.3(SFTPC): c.218T> C (p.Ile73Thr)single nucleotide variantPathogenicrs121917834GRCh37Chr 8, 22020609: 22020609
3SFTPCNM_003018.3(SFTPC): c.500G> A (p.Arg167Gln)single nucleotide variantPathogenicrs34957318GRCh37Chr 8, 22021460: 22021460
4SFTPCNM_003018.3(SFTPC): c.563T> A (p.Leu188Gln)single nucleotide variantPathogenicrs121917835GRCh37Chr 8, 22021523: 22021523
5SFTPCSFTPC, IVS4DS, G-T, +1single nucleotide variantPathogenic
6SFTPCNM_003018.3(SFTPC): c.347C> A (p.Ala116Asp)single nucleotide variantPathogenicrs121918559GRCh37Chr 8, 22020971: 22020971
7SFTPCNM_003018.3(SFTPC): c.196G> A (p.Glu66Lys)single nucleotide variantPathogenicrs121917836GRCh37Chr 8, 22020240: 22020240
8SFTPCNM_003018.3(SFTPC): c.581T> C (p.Leu194Pro)single nucleotide variantPathogenicrs121918560GRCh37Chr 8, 22021541: 22021541

Expression for genes affiliated with Surfactant Metabolism Dysfunction, Pulmonary, 2

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Search GEO for disease gene expression data for Surfactant Metabolism Dysfunction, Pulmonary, 2.

Pathways for genes affiliated with Surfactant Metabolism Dysfunction, Pulmonary, 2

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GO Terms for genes affiliated with Surfactant Metabolism Dysfunction, Pulmonary, 2

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Sources for Surfactant Metabolism Dysfunction, Pulmonary, 2

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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