MCID: SRF003
MIFTS: 30

Surfactant Metabolism Dysfunction, Pulmonary, 2 malady

Categories: Genetic diseases, Respiratory diseases, Rare diseases, Metabolic 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 50 12
Interstitial Lung Disease Due to Surfactant Protein C Deficiency 52 68
Pulmonary Surfactant Metabolism Dysfunction 2 68 25
Desquamative Interstitial Pneumonitis Due to Surfactant Protein C Deficiency 68
Chronic Respiratory Distress with Surfactant Metabolism Deficiency 52
 
Interstitial Lung Disease Due to Sp-C Deficiency 52
Congenital Pulmonary Alveolar Proteinosis 2 68
Smdp2 68
Pap 68

Characteristics:

Orphanet epidemiological data:

52
chronic respiratory distress with surfactant metabolism deficiency:
Inheritance: Autosomal dominant; Age of onset: All ages
interstitial lung disease due to surfactant protein c deficiency:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy

HPO:

62
surfactant metabolism dysfunction, pulmonary, 2:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: incomplete penetrance


Classifications:



External Ids:

OMIM50 610913
ICD10 via Orphanet29 J84.8
MedGen35 C1970470
MeSH37 D011649

Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 2

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UniProtKB/Swiss-Prot:68 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 interstitial lung disease due to surfactant protein c deficiency, is related to pulmonary alveolar proteinosis, acquired and surfactant metabolism dysfunction, pulmonary, 4, and has symptoms including cyanosis, dyspnea and respiratory distress. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 2 is SFTPC (Surfactant Protein C). Affiliated tissues include lung.

OMIM:50 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 76)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary alveolar proteinosis, acquired11.5
2surfactant metabolism dysfunction, pulmonary, 411.3
3sftpc-related pulmonary surfactant metabolism dysfunction11.3
4surfactant metabolism dysfunction, pulmonary, 111.2
5surfactant metabolism dysfunction, pulmonary, 511.2
6polydactyly, postaxial, types a1 and b11.2
7interstitial lung and liver disease10.8
8surfactant metabolism dysfunction, pulmonary, 310.8
9spondyloepiphyseal dysplasia tarda toledo type10.8
10congenital pulmonary alveolar proteinosis10.8
11hereditary pulmonary alveolar proteinosis10.8
12secondary pulmonary alveolar proteinosis10.8
13pulmonary alveolar proteinosis10.6
14cervicitis10.4
15vaginal cancer10.4
16prostatitis10.3
17adenocarcinoma10.2
18pancreatitis10.1
19cervical intraepithelial neoplasia10.1
20prostate cancer10.1
21bacterial vaginosis10.1
22vaginitis10.0
23pituitary adenoma, growth hormone-secreting10.0
24pyelonephritis9.9
25adenocarcinoma in situ9.9
26cystic fibrosis9.9
27small cell carcinoma9.9
28cervical cancer, somatic9.8
29cervix disease9.8
30dengue hemorrhagic fever9.8
31endometritis9.8
32trichomoniasis9.8
33papilloma9.8
34cervical adenocarcinoma9.8
35endocervicitis9.8
36adenoma9.8
37peritonitis9.8
38hemorrhagic fever9.8
39hepatocellular carcinoma9.6
40breast cancer9.6
41bacteremia9.6
42pancreatic cancer9.6
43acute liver failure9.6
44gingival recession9.6
45pancreatic ductal adenocarcinoma9.6
46pemphigus vulgaris9.6
47silicosis9.6
48sleep apnea9.6
49endocervical adenocarcinoma9.6
50lymphoma9.6

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

UMLS symptoms related to Surfactant Metabolism Dysfunction, Pulmonary, 2:


cyanosis, dyspnea, respiratory distress

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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Genetic tests related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

id Genetic test Affiliating Genes
1 Surfactant Metabolism Dysfunction, Pulmonary, 225

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 2

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

34
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:

68
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet