MCID: CNG121
MIFTS: 13

Congenital Pulmonary Alveolar Proteinosis malady

Summaries for Congenital Pulmonary Alveolar Proteinosis

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Congenital pulmonary alveolar proteinosis is a rare form of respiratory failure that is present from birth. in this condition, a type of protein builds up in the air sacs (alveoli) of the lungs, making breathing difficult. congenital pulmonary alveolar proteinosis is caused by mutations in the sftpb, sftpc, abca3, or csf2ra gene, and it is typically inherited in an autosomal recessive pattern. last updated: 11/17/2010

MalaCards: Congenital Pulmonary Alveolar Proteinosis, also known as pulmonary alveolar proteinosis, congenital, is related to pulmonary alveolar proteinosis and protein s deficiency. An important gene associated with Congenital Pulmonary Alveolar Proteinosis is SFTPB (surfactant protein B). Affiliated tissues include lung.

Aliases & Classifications for Congenital Pulmonary Alveolar Proteinosis

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43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

congenital pulmonary alveolar proteinosis 43
pulmonary alveolar proteinosis, congenital 43 61
congenital pap 43


Related Diseases for Congenital Pulmonary Alveolar Proteinosis

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17GeneCards, 18GeneDecks
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Diseases in the pulmonary alveolar proteinosis family:

congenital pulmonary alveolar proteinosis pulmonary alveolar proteinosis acquired

Diseases related to Congenital Pulmonary Alveolar Proteinosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pulmonary alveolar proteinosis10.6
2protein s deficiency10.3
3protein c deficiency10.3
4protein r deficiency10.3
5sftpb-related pulmonary surfactant metabolism dysfunction10.3
6surfactant metabolism dysfunction, pulmonary, 110.3
7idiopathic pulmonary alveolar proteinosis10.3
8pulmonary alveolar proteinosis acquired10.0

Graphical network of diseases related to Congenital Pulmonary Alveolar Proteinosis:



Diseases related to congenital pulmonary alveolar proteinosis

Clinical Features for Congenital Pulmonary Alveolar Proteinosis

Drugs & Therapeutics for Congenital Pulmonary Alveolar Proteinosis

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

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Drug clinical trials:

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Search NIH Clinical Center for Congenital Pulmonary Alveolar Proteinosis

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Genetic Tests for Congenital Pulmonary Alveolar Proteinosis

Anatomical Context for Congenital Pulmonary Alveolar Proteinosis

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33MalaCards
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MalaCards organs/tissues related to Congenital Pulmonary Alveolar Proteinosis:

33
Lung

Animal Models for Congenital Pulmonary Alveolar Proteinosis or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Congenital Pulmonary Alveolar Proteinosis

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51PubMed
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Articles related to Congenital Pulmonary Alveolar Proteinosis:

idTitleAuthorsYear
1
Congenital pulmonary alveolar proteinosis. (23710403)
2013
2
Pulmonary alveolar proteinosis in association with congenital dyserythropoietic anemia: a case report. (22953144)
2012
3
Congenital pulmonary alveolar proteinosis related to a surfactant protein B deficiency: report of two cases]. (20005435)
2009
4
Successful treatment of congenital pulmonary alveolar proteinosis with intravenous immunoglobulin G administration. (16423278)
2006
5
Congenital pulmonary alveolar proteinosis: failure of treatment with extracorporeal life support. (1341413)
1992

Genetic Variations for Congenital Pulmonary Alveolar Proteinosis

Expression for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

Search GEO for disease gene expression data for Congenital Pulmonary Alveolar Proteinosis.

Pathways for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

Compounds for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

GO Terms for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

Products for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Pulmonary Alveolar Proteinosis

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