MCID: CNG121
MIFTS: 14

Congenital Pulmonary Alveolar Proteinosis malady

Rare diseases, Respiratory diseases categories
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Summaries for Congenital Pulmonary Alveolar Proteinosis

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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 based summary: Congenital Pulmonary Alveolar Proteinosis, also known as pulmonary alveolar proteinosis, congenital, is related to pulmonary alveolar proteinosis and surfactant metabolism dysfunction, pulmonary, 1. 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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Congenital Pulmonary Alveolar Proteinosis, Aliases & Descriptions:

Name: Congenital Pulmonary Alveolar Proteinosis 42
Pulmonary Alveolar Proteinosis, Congenital 42 62
 
Congenital Pap 42


Classifications:

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


Related Diseases for Congenital Pulmonary Alveolar Proteinosis

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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
2surfactant metabolism dysfunction, pulmonary, 110.3
3idiopathic pulmonary alveolar proteinosis10.3
4pulmonary alveolar proteinosis acquired10.1

Symptoms for Congenital Pulmonary Alveolar Proteinosis

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Drugs & Therapeutics for Congenital Pulmonary Alveolar Proteinosis

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Drug clinical trials:

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Search NIH Clinical Center 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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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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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
4
Congenital pulmonary alveolar proteinosis: failure of treatment with extracorporeal life support. (1341413)
1992

Variations for Congenital Pulmonary Alveolar Proteinosis

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Expression for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet