MCID: SRF003
MIFTS: 15

Surfactant Metabolism Dysfunction, Pulmonary, 2 malady

Genetic diseases, Respiratory diseases, Rare diseases categories
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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, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Respiratory diseases


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:

ICD10 via Orphanet26 J84.8
OMIM47 610913

Related Diseases for Surfactant Metabolism Dysfunction, Pulmonary, 2

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Symptoms for Surfactant Metabolism Dysfunction, Pulmonary, 2

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47OMIM
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Symptoms by clinical synopsis from OMIM:

610913

Clinical features from OMIM:

610913

Drugs & Therapeutics for Surfactant Metabolism Dysfunction, Pulmonary, 2

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Surfactant Metabolism Dysfunction, Pulmonary, 2

Search 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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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

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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 2:

64
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:

1
id Gene Name Type Significance SNP ID Assembly Location
1SFTPCNM_003018.3(SFTPC): c.218T> C (p.Ile73Thr)single nucleotide variantPathogenicrs121917834GRCh37Chr 8, 22020609: 22020609
2SFTPCNM_003018.3(SFTPC): c.500G> A (p.Arg167Gln)single nucleotide variantPathogenicrs34957318GRCh37Chr 8, 22021460: 22021460
3SFTPCNM_003018.3(SFTPC): c.563T> A (p.Leu188Gln)single nucleotide variantPathogenicrs121917835GRCh37Chr 8, 22021523: 22021523
4SFTPCNM_003018.3(SFTPC): c.347C> A (p.Ala116Asp)single nucleotide variantPathogenicrs121918559GRCh37Chr 8, 22020971: 22020971
5SFTPCNM_003018.3(SFTPC): c.196G> A (p.Glu66Lys)single nucleotide variantPathogenicrs121917836GRCh37Chr 8, 22020240: 22020240
6SFTPCNM_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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Surfactant Metabolism Dysfunction, Pulmonary, 2

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 2

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet