MCID: SRF003
MIFTS: 15

Surfactant Metabolism Dysfunction, Pulmonary, 2 malady

Genetic diseases, Respiratory diseases, Rare diseases, Metabolic diseases categories
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Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 2

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

Description from OMIM:46 610913

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 2

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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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 Orphanet26 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:

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:

6
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

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet