MCID: CNG121
MIFTS: 14

Congenital Pulmonary Alveolar Proteinosis malady

Categories: Rare diseases, Respiratory diseases, Blood diseases

Aliases & Classifications for Congenital Pulmonary Alveolar Proteinosis

Aliases & Descriptions for Congenital Pulmonary Alveolar Proteinosis:

Name: Congenital Pulmonary Alveolar Proteinosis 50
Pulmonary Alveolar Proteinosis, Congenital 50 69
Congenital Pap 50

Classifications:



Summaries for Congenital Pulmonary Alveolar Proteinosis

NIH Rare Diseases : 50 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). Affiliated tissues include lung.

Related Diseases for Congenital Pulmonary Alveolar Proteinosis

Graphical network of the top 20 diseases related to Congenital Pulmonary Alveolar Proteinosis:



Diseases related to Congenital Pulmonary Alveolar Proteinosis

Symptoms & Phenotypes for Congenital Pulmonary Alveolar Proteinosis

Drugs & Therapeutics for Congenital Pulmonary Alveolar Proteinosis

Interventional clinical trials:


id Name Status NCT ID Phase
1 Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis Trial Completed NCT03007134

Search NIH Clinical Center for Congenital Pulmonary Alveolar Proteinosis

Genetic Tests for Congenital Pulmonary Alveolar Proteinosis

Anatomical Context for Congenital Pulmonary Alveolar Proteinosis

MalaCards organs/tissues related to Congenital Pulmonary Alveolar Proteinosis:

39
Lung

Publications for Congenital Pulmonary Alveolar Proteinosis

Articles related to Congenital Pulmonary Alveolar Proteinosis:

id Title Authors Year
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

Expression for Congenital Pulmonary Alveolar Proteinosis

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

Pathways for Congenital Pulmonary Alveolar Proteinosis

GO Terms for Congenital Pulmonary Alveolar Proteinosis

Sources for Congenital Pulmonary Alveolar Proteinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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