MCID: CNG121
MIFTS: 13

Congenital Pulmonary Alveolar Proteinosis malady

Categories: Rare diseases, Respiratory diseases, Blood diseases

Aliases & Classifications for Congenital Pulmonary Alveolar Proteinosis

About this section

Aliases & Descriptions for Congenital Pulmonary Alveolar Proteinosis:

Name: Congenital Pulmonary Alveolar Proteinosis 48
Pulmonary Alveolar Proteinosis, Congenital 48 68
 
Congenital Pap 48

Classifications:



Summaries for Congenital Pulmonary Alveolar Proteinosis

About this section
NIH Rare Diseases:48 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, acquired and surfactant metabolism dysfunction, pulmonary, 1. An important gene associated with Congenital Pulmonary Alveolar Proteinosis is SFTPB (Surfactant Protein B).

Related Diseases for Congenital Pulmonary Alveolar Proteinosis

About this section

Graphical network of diseases related to Congenital Pulmonary Alveolar Proteinosis:



Diseases related to congenital pulmonary alveolar proteinosis

Symptoms & Phenotypes for Congenital Pulmonary Alveolar Proteinosis

About this section

Drugs & Therapeutics for Congenital Pulmonary Alveolar Proteinosis

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis TrialCompletedNCT03007134

Search NIH Clinical Center for Congenital Pulmonary Alveolar Proteinosis

Genetic Tests for Congenital Pulmonary Alveolar Proteinosis

About this section

Anatomical Context for Congenital Pulmonary Alveolar Proteinosis

About this section

Publications for Congenital Pulmonary Alveolar Proteinosis

About this section

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

About this section

Expression for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

About this section
Search GEO for disease gene expression data for Congenital Pulmonary Alveolar Proteinosis.

Pathways for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

About this section

GO Terms for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

About this section

Sources for Congenital Pulmonary Alveolar Proteinosis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet