MCID: CNG121
MIFTS: 14

Congenital Pulmonary Alveolar Proteinosis malady

Rare diseases, Respiratory diseases categories

Summaries for Congenital Pulmonary Alveolar Proteinosis

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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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44NIH Rare Diseases, 63UMLS
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Classifications:

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


Aliases & Descriptions:

congenital pulmonary alveolar proteinosis 44
pulmonary alveolar proteinosis, congenital 44 63
congenital pap 44


Related Diseases for Congenital Pulmonary Alveolar Proteinosis

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18GeneCards, 19GeneDecks
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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 proteinosis10.5
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

Symptoms for Congenital Pulmonary Alveolar Proteinosis

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Drugs & Therapeutics for Congenital Pulmonary Alveolar Proteinosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Anatomical Context for Congenital Pulmonary Alveolar Proteinosis

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34MalaCards
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MalaCards organs/tissues related to Congenital Pulmonary Alveolar Proteinosis:

34
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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53PubMed
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Articles related to Congenital Pulmonary Alveolar Proteinosis:

idTitleAuthorsYear
1
Congenital pulmonary alveolar proteinosis. (23710403)
2013
2
Congenital pulmonary alveolar proteinosis related to a surfactant protein B deficiency: report of two cases]. (20005435)
2009
3
Successful treatment of congenital pulmonary alveolar proteinosis with intravenous immunoglobulin G administration. (16423278)
2006

Variations for Congenital Pulmonary Alveolar Proteinosis

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Expression for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

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Sources:
2BioGPS, 16Gene 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

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet