MCID: SRF003
MIFTS: 29

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 51 12 67
Interstitial Lung Disease Due to Surfactant Protein C Deficiency 53 69
Pulmonary Surfactant Metabolism Dysfunction 2 69 26
Desquamative Interstitial Pneumonitis Due to Surfactant Protein C Deficiency 69
Chronic Respiratory Distress with Surfactant Metabolism Deficiency 53
 
Interstitial Lung Disease Due to Sp-C Deficiency 53
Congenital Pulmonary Alveolar Proteinosis 2 69
Smdp2 69
Pap 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
surfactant metabolism dysfunction, pulmonary, 2:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: incomplete penetrance

Classifications:



External Ids:

OMIM51 610913
ICD10 via Orphanet30 J84.8
MedGen36 C1970470
MeSH38 D011649

Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 2

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UniProtKB/Swiss-Prot:69 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, 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:51 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 77)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary alveolar proteinosis, acquired11.7
2surfactant metabolism dysfunction, pulmonary, 411.6
3surfactant metabolism dysfunction, pulmonary, 111.4
4surfactant metabolism dysfunction, pulmonary, 511.4
5polydactyly, postaxial, types a1 and b11.3
6pulmonary alveolar proteinosis11.2
7sftpc-related pulmonary surfactant metabolism dysfunction11.2
8vaginal cancer11.0
9pituitary adenoma, growth hormone-secreting10.9
10cervical cancer, somatic10.7
11cervix disease10.7
12interstitial lung and liver disease10.7
13surfactant metabolism dysfunction, pulmonary, 310.7
14congenital pulmonary alveolar proteinosis10.7
15csfrb-related pulmonary surfactant metabolism dysfunction10.7
16hereditary pulmonary alveolar proteinosis10.7
17secondary pulmonary alveolar proteinosis10.7
18cervicitis10.3
19prostatitis10.2
20adenocarcinoma10.1
21pancreatitis10.0
22cervical intraepithelial neoplasia10.0
23prostate cancer10.0
24bacterial vaginosis9.9
25vaginitis9.9
26pyelonephritis9.8
27adenocarcinoma in situ9.8
28cystic fibrosis9.8
29small cell carcinoma9.8
30cervical adenocarcinoma9.8
31dengue hemorrhagic fever9.7
32endometritis9.7
33trichomoniasis9.7
34papilloma9.7
35endocervicitis9.7
36adenoma9.7
37peritonitis9.7
38hemorrhagic fever9.7
39hepatocellular carcinoma9.5
40breast cancer9.5
41bacteremia9.5
42pancreatic cancer9.5
43acute liver failure9.5
44gingival recession9.5
45pancreatic ductal adenocarcinoma9.5
46pemphigus vulgaris9.5
47silicosis9.5
48sleep apnea9.5
49endocervical adenocarcinoma9.5
50lymphoma9.5

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

Human phenotypes related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 cyanosis63 HP:0000961
2 clubbing63 HP:0001217
3 failure to thrive63 HP:0001508
4 respiratory distress63 HP:0002098
5 recurrent respiratory infections63 HP:0002205
6 tachypnea63 HP:0002789
7 tubulointerstitial fibrosis63 HP:0005576
8 interstitial pneumonitis63 HP:0006515
9 alveolar proteinosis63 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, 226

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 2

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

35
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:

69
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, +1SNVPathogenicChr na, -1: -1
2SFTPCNM_003018.3(SFTPC): c.218T> C (p.Ile73Thr)SNVPathogenicrs121917834GRCh37Chr 8, 22020609: 22020609
3SFTPCNM_003018.3(SFTPC): c.500G> A (p.Arg167Gln)SNVPathogenicrs34957318GRCh37Chr 8, 22021460: 22021460
4SFTPCNM_003018.3(SFTPC): c.563T> A (p.Leu188Gln)SNVPathogenicrs121917835GRCh37Chr 8, 22021523: 22021523
5SFTPCSFTPC, IVS4DS, G-T, +1SNVPathogenicChr na, -1: -1
6SFTPCNM_003018.3(SFTPC): c.347C> A (p.Ala116Asp)SNVPathogenicrs121918559GRCh37Chr 8, 22020971: 22020971
7SFTPCNM_003018.3(SFTPC): c.196G> A (p.Glu66Lys)SNVPathogenicrs121917836GRCh37Chr 8, 22020240: 22020240
8SFTPCNM_003018.3(SFTPC): c.581T> C (p.Leu194Pro)SNVPathogenicrs121918560GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet