MCID: SRF003

Surfactant Metabolism Dysfunction, Pulmonary, 2 malady

Respiratory, Metabolic categories

Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 2

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47OMIM, 33MalaCards
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MalaCards: Surfactant Metabolism Dysfunction, Pulmonary, 2, is also known as chronic respiratory distress with surfactant metabolism deficiency An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 2 is SFTPC (surfactant protein C). Affiliated tissues include lung.

Description from OMIM:47 610913

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 2

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47OMIM, 49Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Respiratory, Metabolic


Characteristics (Orphanet epidemiological data):

49
chronic respiratory distress with surfactant metabolism deficiency:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

surfactant metabolism dysfunction, pulmonary, 2 47
chronic respiratory distress with surfactant metabolism deficiency 49


External Ids:

OMIM47 610913

Related Diseases for Surfactant Metabolism Dysfunction, Pulmonary, 2

Clinical Features for Surfactant Metabolism Dysfunction, Pulmonary, 2

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47OMIM
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Clinical features from OMIM:

610913

Clinical synopsis from OMIM:

610913

Drugs & Therapeutics for Surfactant Metabolism Dysfunction, Pulmonary, 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Surfactant Metabolism Dysfunction, Pulmonary, 2

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 2

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33MalaCards
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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

Sources:
28inGenious Targeting Laboratory
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Publications for Surfactant Metabolism Dysfunction, Pulmonary, 2

Genetic Variations for Surfactant Metabolism Dysfunction, Pulmonary, 2

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 2:

63
id Symbol AA change Variation SNP ID
1SFTPCp.Ile73ThrVAR_026753
2SFTPCp.Ala116AspVAR_026754
3SFTPCp.Arg167GlnVAR_026755rs34957318
4SFTPCp.Leu188GlnVAR_026756
5SFTPCp.Glu66LysVAR_036855

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Surfactant Metabolism Dysfunction, Pulmonary, 2

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

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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 2

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet