MCID: CNG121

Congenital Pulmonary Alveolar Proteinosis malady

Summaries for Congenital Pulmonary Alveolar Proteinosis

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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 sftpb-related pulmonary surfactant metabolism dysfunction. 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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42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

congenital pulmonary alveolar proteinosis 42
pulmonary alveolar proteinosis, congenital 42 60
congenital pap 42


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
2sftpb-related pulmonary surfactant metabolism dysfunction10.3
3surfactant metabolism dysfunction, pulmonary, 110.3
4idiopathic pulmonary alveolar proteinosis10.3
5pulmonary 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

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Drugs & Therapeutics for Congenital Pulmonary Alveolar Proteinosis

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5CenterWatch, 41NIH 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

Search CenterWatch for Congenital Pulmonary Alveolar Proteinosis

Genetic Tests for Congenital Pulmonary Alveolar Proteinosis

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Anatomical Context for Congenital Pulmonary Alveolar Proteinosis

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32MalaCards
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MalaCards organs/tissues related to Congenital Pulmonary Alveolar Proteinosis:

32
Lung

Animal Models for Congenital Pulmonary Alveolar Proteinosis or affiliated genes

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Publications for Congenital Pulmonary Alveolar Proteinosis

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Genetic Variations for Congenital Pulmonary Alveolar Proteinosis

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Expression for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

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

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Pathways for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

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Compounds for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

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GO Terms for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

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Products for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Pulmonary Alveolar Proteinosis

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet