MCID: CNG121
MIFTS: 15

Congenital Pulmonary Alveolar Proteinosis

Categories: Rare diseases, Respiratory diseases, Blood diseases

Aliases & Classifications for Congenital Pulmonary Alveolar Proteinosis

MalaCards integrated aliases for Congenital Pulmonary Alveolar Proteinosis:

Name: Congenital Pulmonary Alveolar Proteinosis 49
Pulmonary Alveolar Proteinosis, Congenital 49 69
Congenital Pap 49

Classifications:



External Ids:

UMLS 69 C2931035

Summaries for Congenital Pulmonary Alveolar Proteinosis

NIH Rare Diseases : 49 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, 4. 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

Diseases in the Pulmonary Alveolar Proteinosis family:

Pulmonary Alveolar Proteinosis, Acquired Congenital Pulmonary Alveolar Proteinosis
Hereditary Pulmonary Alveolar Proteinosis Secondary Pulmonary Alveolar Proteinosis

Diseases related to Congenital Pulmonary Alveolar Proteinosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 surfactant metabolism dysfunction, pulmonary, 1 11.3
2 surfactant metabolism dysfunction, pulmonary, 4 11.3
3 surfactant metabolism dysfunction, pulmonary, 2 11.3
4 surfactant metabolism dysfunction, pulmonary, 3 11.3
5 hereditary pulmonary alveolar proteinosis 11.3
6 pulmonary alveolar proteinosis, acquired 11.2
7 pulmonary alveolar proteinosis 10.3
8 aging 9.9

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

Search Clinical Trials , 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:

38
Lung

Publications for Congenital Pulmonary Alveolar Proteinosis

Articles related to Congenital Pulmonary Alveolar Proteinosis:

# Title Authors Year
1
Congenital Pulmonary Alveolar Proteinosis: From Birth to Ten-years of Age. ( 28512724 )
2017
2
Congenital pulmonary alveolar proteinosis. ( 23710403 )
2013
3
[Congenital pulmonary alveolar proteinosis related to a surfactant protein B deficiency: report of two cases]. ( 20005435 )
2009
4
Successful treatment of congenital pulmonary alveolar proteinosis with intravenous immunoglobulin G administration. ( 16423278 )
2006
5
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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