MCID: CNG121
MIFTS: 34

Congenital Pulmonary Alveolar Proteinosis malady

Rare diseases, Respiratory diseases, Cardiovascular diseases categories

Summaries for Congenital Pulmonary Alveolar Proteinosis

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NIH Rare Diseases:43 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.

Aliases & Classifications for Congenital Pulmonary Alveolar Proteinosis

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Sources:
43NIH Rare Diseases, 49Orphanet, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Congenital Pulmonary Alveolar Proteinosis, Aliases & Descriptions:

Name: Congenital Pulmonary Alveolar Proteinosis 43 49
Pulmonary Alveolar Proteinosis, Congenital 43 62
Congenital Pap 43 49
 
Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Vascular Disorder 43
Primary Ild Specific to Childhood Due to Alveolar Vascular Disorder 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Respiratory diseases, Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

49
congenital pulmonary alveolar proteinosis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet49 264675
ICD10 via Orphanet28 J84.0
UMLS via Orphanet63 C2931035

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:

33
Lung

Animal Models for Congenital Pulmonary Alveolar Proteinosis or affiliated genes

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MGI Mouse Phenotypes related to Congenital Pulmonary Alveolar Proteinosis:

37
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:

7 (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/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1infasurf459.9SFTPC, SFTPB
2popg459.8SFTPB, SFTPC
31,2-dipalmitoyl-sn-glycero-3-phosphocholine459.8SFTPB, SFTPC
4dppg459.8SFTPB, SFTPC
5curosurf459.8SFTPC, SFTPB
6survanta459.8SFTPB, SFTPC
7dopc459.8SFTPB, SFTPC
8dppc459.8SFTPC, SFTPB
9p-opc459.8SFTPB, SFTPC
10butanol459.8SFTPB, SFTPC
11chloroform459.8SFTPC, SFTPB
12methanol45 2610.8SFTPB, SFTPC
13isoleucine459.7SFTPC, SFTPB
14doxycycline45 1310.7SFTPC, SFTPB
15peroxynitrite459.7SFTPB, SFTPC
16bleomycin45 1310.7SFTPC, SFTPB
17palmitate459.6SFTPC, SFTPB
18ibmx45 61 3011.6SFTPB, SFTPC
19phosphatidylcholine459.6SFTPC, SFTPB
20fibrinogen459.5SFTPC, SFTPB
21chloramphenicol45 3 51 1312.4SFTPB, SFTPC
22ribonucleic acid459.2SFTPC, SFTPB
23lipid458.7SFTPC, 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/GeneDecks:

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/GeneDecks:

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/GeneDecks:

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

Products for genes affiliated with Congenital Pulmonary Alveolar Proteinosis

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Sources for Congenital Pulmonary Alveolar Proteinosis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet