MCID: CNG121
MIFTS: 29

Congenital Pulmonary Alveolar Proteinosis malady

Rare diseases, Respiratory diseases, Cardiovascular diseases categories

Aliases & Classifications for Congenital Pulmonary Alveolar Proteinosis

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Sources:
42NIH Rare Diseases, 48Orphanet, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Congenital Pulmonary Alveolar Proteinosis:

Name: Congenital Pulmonary Alveolar Proteinosis 42 48
Pulmonary Alveolar Proteinosis, Congenital 42 61
Congenital Pap 42 48
 
Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Vascular Disorder 42
Primary Ild Specific to Childhood Due to Alveolar Vascular Disorder 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital pulmonary alveolar proteinosis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet48 264675
ICD10 via Orphanet26 J84.0
UMLS via Orphanet62 C2931035

Summaries for Congenital Pulmonary Alveolar Proteinosis

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NIH Rare Diseases:42 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 and severe congenital pulmonary alveolar proteinosis. An important gene associated with Congenital Pulmonary Alveolar Proteinosis is SFTPB (surfactant protein B), and among its related pathways are Interferon Signaling and Jak-STAT signaling pathway. The compounds infasurf and popg have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotype respiratory system.

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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Drug clinical trials:

Search ClinicalTrials for Congenital Pulmonary Alveolar Proteinosis

Search 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:

31
Lung

Animal Models for Congenital Pulmonary Alveolar Proteinosis or affiliated genes

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MGI Mouse Phenotypes related to Congenital Pulmonary Alveolar Proteinosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.1CSF2RB, SFTPC, SFTPB, ABCA3

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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Clinvar genetic disease variations for Congenital Pulmonary Alveolar Proteinosis:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1CSF2RACSF2RA, EX5-13 DELdeletionPathogenic
2CSF2RANM_001161529.1(CSF2RA): c.586G> A (p.Gly196Arg)single nucleotide variantPathogenicrs137852353GRCh37Chr X, 1409342: 1409342
3SFTPBSFTPB, 2-BP INS, 375C-GAAinsertionPathogenic
4SFTPBSFTPB, 1-BP DEL, 1553TdeletionPathogenic
5SFTPBSFTPB, 1-BP DEL, 457CdeletionPathogenic
6SFTPBNM_198843.2(SFTPB): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs137853202GRCh37Chr 2, 85890937: 85890937
7SFTPBSFTPB, 479G-Tsingle nucleotide variantPathogenic
8CSF2RBCSF2RB, 1-BP DEL, 631CdeletionPathogenic
9ABCA3NM_001089.2(ABCA3): c.3426G> A (p.Trp1142Ter)single nucleotide variantPathogenicrs121909181GRCh37Chr 16, 2335500: 2335500
10ABCA3NM_001089.2(ABCA3): c.302T> C (p.Leu101Pro)single nucleotide variantPathogenicrs121909182GRCh37Chr 16, 2376028: 2376028
11ABCA3NM_001089.2(ABCA3): c.4658T> C (p.Leu1553Pro)single nucleotide variantPathogenicrs121909183GRCh37Chr 16, 2328349: 2328349
12ABCA3NM_001089.2(ABCA3): c.4772A> C (p.Gln1591Pro)single nucleotide variantPathogenicrs28936691GRCh37Chr 16, 2328017: 2328017
13ABCA3NM_001089.2(ABCA3): c.1702A> G (p.Asn568Asp)single nucleotide variantPathogenicrs121909184GRCh37Chr 16, 2349443: 2349443
14ABCA3ABCA3, 4909, G-A, +1single nucleotide variantPathogenic
15ABCA3NM_001089.2(ABCA3): c.977T> C (p.Leu326Pro)single nucleotide variantPathogenicrs121909185GRCh37Chr 16, 2367662: 2367662

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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Compounds for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

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Compounds related to Congenital Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

(show all 23)
idCompoundScoreTop Affiliating Genes
1infasurf449.9SFTPC, SFTPB
2popg449.8SFTPB, SFTPC
31,2-dipalmitoyl-sn-glycero-3-phosphocholine449.8SFTPB, SFTPC
4dppg449.8SFTPB, SFTPC
5curosurf449.8SFTPC, SFTPB
6survanta449.8SFTPB, SFTPC
7dopc449.8SFTPB, SFTPC
8dppc449.8SFTPC, SFTPB
9p-opc449.8SFTPB, SFTPC
10butanol449.8SFTPB, SFTPC
11chloroform449.8SFTPC, SFTPB
12methanol44 2410.8SFTPB, SFTPC
13isoleucine449.7SFTPC, SFTPB
14doxycycline44 1110.7SFTPC, SFTPB
15peroxynitrite449.7SFTPB, SFTPC
16bleomycin44 1110.7SFTPC, SFTPB
17palmitate449.6SFTPC, SFTPB
18ibmx44 60 2811.6SFTPB, SFTPC
19phosphatidylcholine449.6SFTPC, SFTPB
20fibrinogen449.5SFTPC, SFTPB
21chloramphenicol44 1 50 1112.4SFTPB, SFTPC
22ribonucleic acid449.2SFTPC, SFTPB
23lipid448.7SFTPC, SFTPB, ABCA3

GO Terms for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

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Cellular components related to Congenital Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1alveolar lamellar bodyGO:00972088.8SFTPC, ABCA3
2extracellular spaceGO:00056158.7SFTPC, SFTPB, ABCA3

Biological processes related to Congenital Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to lipopolysaccharideGO:00324969.3CSF2RB, SFTPC
2response to glucocorticoidGO:00513848.8SFTPC, ABCA3
3respiratory gaseous exchangeGO:00075858.8CSF2RB, SFTPC, SFTPB

Molecular functions related to Congenital Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1receptor activityGO:00048729.3CSF2RA, CSF2RB

Sources for Congenital Pulmonary Alveolar Proteinosis

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet