MCID: CNG121
MIFTS: 14

Congenital Pulmonary Alveolar Proteinosis malady

Categories: Rare diseases, Respiratory diseases, Blood diseases

Aliases & Classifications for Congenital Pulmonary Alveolar Proteinosis

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Aliases & Descriptions for Congenital Pulmonary Alveolar Proteinosis:

Name: Congenital Pulmonary Alveolar Proteinosis 46
Pulmonary Alveolar Proteinosis, Congenital 46 66
 
Congenital Pap 46

Classifications:



Summaries for Congenital Pulmonary Alveolar Proteinosis

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NIH Rare Diseases:46 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 surfactant metabolism dysfunction, pulmonary, 1 and surfactant metabolism dysfunction, pulmonary, 2. An important gene associated with Congenital Pulmonary Alveolar Proteinosis is SFTPB (Surfactant Protein B). Affiliated tissues include lung.

Related Diseases for Congenital Pulmonary Alveolar Proteinosis

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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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Interventional clinical trials:

Search ClinicalTrials, 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:

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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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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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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GO Terms for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

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Sources for Congenital Pulmonary Alveolar Proteinosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet