MCID: SRF003
MIFTS: 18

Surfactant Metabolism Dysfunction, Pulmonary, 2 malady

Genetic diseases, Respiratory diseases, Rare diseases, Metabolic diseases categories

Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 2

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OMIM:46 Surfactant protein C (SPC) deficiency is a rare autosomal dominant disease associated with progressive respiratory...610913 more...

MalaCards based summary: Surfactant Metabolism Dysfunction, Pulmonary, 2, is also known as chronic respiratory distress with surfactant metabolism deficiency, and has symptoms including autosomal dominant inheritance, cyanosis and clubbing. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 2 is SFTPC (surfactant protein C). Affiliated tissues include lung.

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 2

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Sources:
46OMIM, 48Orphanet, 27ICD10 via Orphanet
See all sources

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

Name: Surfactant Metabolism Dysfunction, Pulmonary, 2 46
 
Chronic Respiratory Distress with Surfactant Metabolism Deficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
chronic respiratory distress with surfactant metabolism deficiency:
Inheritance: Autosomal dominant; Age of onset: Variable


External Ids:

OMIM46 610913
ICD10 via Orphanet27 J84.8

Related Diseases for Surfactant Metabolism Dysfunction, Pulmonary, 2

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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 12)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 cyanosis HP:0000961
3 clubbing HP:0001217
4 heterogeneous HP:0001425
5 failure to thrive HP:0001508
6 respiratory distress HP:0002098
7 recurrent respiratory infections HP:0002205
8 tachypnea HP:0002789
9 incomplete penetrance HP:0003829
10 tubulointerstitial fibrosis HP:0005576
11 interstitial pneumonitis HP:0006515
12 alveolar proteinosis HP:0006517

Drugs & Therapeutics for Surfactant Metabolism Dysfunction, Pulmonary, 2

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

32
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:

63
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:

7
id Gene Name 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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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
  • Proteins
  • Kits and Assays

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet