MCID: CNG121
MIFTS: 16

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 53 37
Pulmonary Alveolar Proteinosis, Congenital 53 73
Congenital Pap 53

Classifications:



External Ids:

KEGG 37 H01122
UMLS 73 C2931035

Summaries for Congenital Pulmonary Alveolar Proteinosis

NIH Rare Diseases : 53 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.

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), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and Jak-STAT signaling pathway. 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:

41
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

Pathways related to Congenital Pulmonary Alveolar Proteinosis according to KEGG:

37
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060
2 Jak-STAT signaling pathway hsa04630

GO Terms for Congenital Pulmonary Alveolar Proteinosis

Sources for Congenital Pulmonary Alveolar Proteinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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