MCID: CNG121
MIFTS: 16

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 45
Pulmonary Alveolar Proteinosis, Congenital 45 65
 
Congenital Pap 45

Classifications:



External Ids:

UMLS65 C2931035

Summaries for Congenital Pulmonary Alveolar Proteinosis

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NIH Rare Diseases:45 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 and liver.

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:

33
Lung, Liver

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet