MCID: CNG390
MIFTS: 41

Congenital Pulmonary Airway Malformation malady

Respiratory diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Congenital Pulmonary Airway Malformation

About this section
Sources:
48Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Aliases & Descriptions for Congenital Pulmonary Airway Malformation:

Name: Congenital Pulmonary Airway Malformation 48
Congenital Cystic Adenomatoid Malformation of the Lung 48
Congenital Cystic Adenomatous Malformation of the Lung 48
 
Congenital Cystic Disease of the Lung 48
Ccam 48
Cpam 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital cystic adenomatoid malformation of the lung:
Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-5/10000 (France),1-9/100000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-5/10000 (Netherlands),1-9/100000 (Norway),1-9/1000000 (Poland),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-9/100000 (Ukraine)


External Ids:

Orphanet48 2444
ICD10 via Orphanet26 Q33.0
ICD1025 Q33.0

Summaries for Congenital Pulmonary Airway Malformation

About this section
Wikipedia:64 Congenital pulmonary airway malformation (CPAM), formerly known as congenital cystic adenomatoid... more...

MalaCards based summary: Congenital Pulmonary Airway Malformation, also known as congenital cystic adenomatoid malformation of the lung, is related to mucoepidermoid carcinoma and adenocarcinoma, and has symptoms including polyhydramnios, premature birth and respiratory insufficiency. An important gene associated with Congenital Pulmonary Airway Malformation is KRAS (Kirsten rat sarcoma viral oncogene homolog), and among its related pathways are EGFR Transactivation by Gastrin and Sorafenib Pharmacodynamics. The compounds ag 1478 and panitumumab have been mentioned in the context of this disorder. Affiliated tissues include lung and fetal lung, and related mouse phenotype digestive/alimentary.

Related Diseases for Congenital Pulmonary Airway Malformation

About this section

Diseases in the Congenital Pulmonary Airway Malformation family:

Congenital Pulmonary Airway Malformation Type 2 Congenital Pulmonary Airway Malformation Type 3
Congenital Pulmonary Airway Malformation Type 4 Congenital Pulmonary Airway Malformation Type 0
Congenital Pulmonary Airway Malformation Type 1

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

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1mucoepidermoid carcinoma30.5MUC5AC, EGFR
2adenocarcinoma29.6EML4, MUC5AC, ERBB2, KRAS, KRT20, EGFR
3congenital pulmonary airway malformation type 210.5
4congenital pulmonary airway malformation type 310.5
5congenital pulmonary airway malformation type 010.5
6congenital pulmonary airway malformation type 410.4
7congenital pulmonary airway malformation type 110.4
8blastoma10.4
9esophageal atresia10.4
10ehlers-danlos syndrome10.4
11esophagitis10.4
12pneumothorax10.4
13pulmonary blastoma10.4
14alveolar capillary dysplasia10.4
15bod syndrome10.4
16young syndrome10.4
17spontaneous pneumothorax10.4
18mucinous adenocarcinoma10.4
19hydrops fetalis10.4
20pseudomyxoma peritonei10.3KRT20, MUC5AC
21pancreatic ductal carcinoma10.2KRT20, MUC5AC
22aspergillosis10.2
23adenocarcinoma in situ10.2
24nephrotic syndrome10.2
25pulmonary sequestration10.2
26tracheoesophageal fistula10.2
27fetal lung interstitial tumor10.2
28cervical adenocarcinoma10.2MUC5AC, KRT20
29rectal neoplasm10.2KRAS, KRT20
30barrett esophagus/esophageal adenocarcinoma10.2KRT20, MUC5AC
31exanthem10.1EGFR, KRAS
32pancreatitis, hereditary10.1KRAS, MUC5AC
33adenomatous polyposis coli10.1KRAS, MUC5AC
34gastric cancer, somatic10.1ERBB2, KRAS
35mammary paget's disease10.1KRT20, ERBB2
36malignant mixed mullerian tumor10.1KRAS, ERBB2
37paget disease, extramammary10.0ERBB2, KRT20
38colon adenocarcinoma10.0MUC5AC, KRAS, KRT20
39salivary gland adenoid cystic carcinoma10.0KRT20, ERBB2
40biliary tract neoplasm10.0EGFR, ERBB2
41pancreatic cancer10.0MUC5AC, KRAS, EGFR
42inflammatory breast carcinoma10.0EGFR, ERBB2
43adenosquamous carcinoma10.0MUC5AC, KRT20, EGFR
44ductal carcinoma in situ10.0EGFR, ERBB2
45breast ductal carcinoma10.0EGFR, ERBB2
46adenoma9.9MUC5AC, KRAS, KRT20
47lung benign neoplasm9.9KRAS, KRT20, EGFR
48papillary carcinoma9.9KRT20, ERBB2
49small cell cancer of the lung, somatic9.9KRAS, KRT20, EGFR
50diarrhea9.9EGFR, ERBB2

Graphical network of the top 20 diseases related to Congenital Pulmonary Airway Malformation:



Diseases related to congenital pulmonary airway malformation

Symptoms for Congenital Pulmonary Airway Malformation

About this section

Symptoms:

 48
  • structural anomalies of the respiratory system and diaphragm
  • antenatal period/pregnancy anomalies
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • polyhydramnios
  • prematurity

HPO human phenotypes related to Congenital Pulmonary Airway Malformation:

id Description Frequency HPO Source Accession
1 polyhydramnios occasional (7.5%) HP:0001561
2 premature birth occasional (7.5%) HP:0001622
3 respiratory insufficiency occasional (7.5%) HP:0002093
4 abnormality of the pleura occasional (7.5%) HP:0002103

Drugs & Therapeutics for Congenital Pulmonary Airway Malformation

About this section

Drug clinical trials:

Search ClinicalTrials for Congenital Pulmonary Airway Malformation

Search NIH Clinical Center for Congenital Pulmonary Airway Malformation

Genetic Tests for Congenital Pulmonary Airway Malformation

About this section

Anatomical Context for Congenital Pulmonary Airway Malformation

About this section

MalaCards organs/tissues related to Congenital Pulmonary Airway Malformation:

31
Lung, Fetal lung

Animal Models for Congenital Pulmonary Airway Malformation or affiliated genes

About this section

MGI Mouse Phenotypes related to Congenital Pulmonary Airway Malformation:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5EGFR, KRAS, ERBB2, MUC5AC

Publications for Congenital Pulmonary Airway Malformation

About this section

Articles related to Congenital Pulmonary Airway Malformation:

(show all 26)
idTitleAuthorsYear
1
Unusual signal intensity of congenital pulmonary airway malformation on fetal magnetic resonance imaging. (25875635)
2015
2
Congenital pulmonary airway malformation and sequestration: Two standpoints for a single condition. (25883453)
2015
3
A fatal case of congenital pulmonary airway malformation with aspergillosis in an adult. (24672262)
2014
4
Congenital Pulmonary Airway Malformation Type 2: A Case Report with Review of the Literature. (24715554)
2014
5
A report of adenocarcinoma in situ and congenital pulmonary airway malformation in a three-day-old infant with a review of the literature. (25341604)
2014
6
EGFR mutation of adenocarcinoma in congenital cystic adenomatoid malformation/congenital pulmonary airway malformation: a case report. (24482415)
2014
7
Multifocal synchronous mucinous adenocarcinomas arising in congenital pulmonary airway malformation: a case report with molecular study. (25066006)
2014
8
Fetal lung interstitial tumor: the first Japanese case report and a comparison with fetal lung tissue and congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3. (24134655)
2013
9
Congenital pulmonary airway malformation presenting as unilateral cystic lung disease. (24127801)
2013
10
Echinoderm microtubule-associated protein-like 4 (EML4)-anaplastic lymphoma kinase (ALK) rearrangement in congenital pulmonary airway malformation. (23357247)
2013
11
Magnetic resonance vs. sonographic imaging: diagnostics of a large congenital pulmonary airway malformation. (22764758)
2013
12
Type 2 congenital pulmonary airway malformation and congenital nephrotic syndrome: report of a new association. (23350653)
2013
13
Congenital pulmonary airway malformation. (24156683)
2013
14
MUC5AC, cytokeratin 20 and HER2 expression and K-RAS mutations within mucinogenic growth in congenital pulmonary airway malformations. (22348416)
2012
15
Pediatric primary lung adenocarcinoma in the absence of congenital pulmonary airway malformation. (22447504)
2012
16
Congenital pulmonary airway malformation with mucoepidermoid carcinoma: a case report and review of literature. (23455800)
2012
17
Congenital pulmonary airway malformation (CPAM) [congenital cystic adenomatoid malformation] associated with tracheoesophageal fistula and agensesis of the corpus callosum. (22414029)
2012
18
Microcystic congenital pulmonary airway malformation with hydrops fetalis: steroids vs open fetal resection. (22244389)
2012
19
Identical twins with lethal congenital pulmonary airway malformation type 0 (acinar dysplasia): further evidence of familial tendency. (22413819)
2012
20
Treatment of congenital pulmonary airway malformation induced hydrops fetalis via percutaneous sclerotherapy. (22354268)
2012
21
Congenital pulmonary airway malformation: a case report and review of the literature. (21762550)
2012
22
Aspergilloma in a patient with an occult congenital pulmonary airway malformation. (21905264)
2012
23
Squamous metaplasia in the cyst epithelium of type 1 congenital pulmonary airway malformation after thoracoamniotic shunt placement. (22386520)
2012
24
Mucinous adenocarcinoma of the lung in association with congenital pulmonary airway malformation. (21034957)
2010
25
Expression of epidermal growth factor receptor, but not K-RAS mutations, is present in congenital cystic airway malformation/congenital pulmonary airway malformation. (17714760)
2007
26
Intralobar pulmonary sequestration associated with a congenital pulmonary airway malformation type II. (18363152)
2007

Variations for Congenital Pulmonary Airway Malformation

About this section

Expression for genes affiliated with Congenital Pulmonary Airway Malformation

About this section
Search GEO for disease gene expression data for Congenital Pulmonary Airway Malformation.

Pathways for genes affiliated with Congenital Pulmonary Airway Malformation

About this section

Pathways related to Congenital Pulmonary Airway Malformation according to GeneCards Suite gene sharing:

(show all 33)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
EGFR-dependent Endothelin signaling events36
9.6EGFR, KRAS
2
Show member pathways
9.6KRAS, EGFR
39.6KRAS, EGFR
49.6KRAS, EGFR
59.5EGFR, ERBB2
69.5EGFR, ERBB2
79.5ERBB2, EGFR
89.5ERBB2, EGFR
9
Show member pathways
9.5EGFR, ERBB2
109.5EGFR, ERBB2
11
Show member pathways
Development Ligand independent activation of ESR1 and ESR259
9.5ERBB2, EGFR
129.5ERBB2, EGFR
13
Show member pathways
9.5ERBB2, EGFR
14
Show member pathways
Translation Non genomic rapid action of Androgen Receptor59
9.5EGFR, ERBB2
159.1EGFR, KRAS, ERBB2
16
Show member pathways
9.1EGFR, KRAS, ERBB2
17
Show member pathways
9.1ERBB2, KRAS, EGFR
18
Show member pathways
9.1ERBB2, KRAS, EGFR
199.1EGFR, KRAS, ERBB2
20
Show member pathways
9.1ERBB2, KRAS, EGFR
219.1KRAS, ERBB2, EGFR
22
Show member pathways
Signal transduction PTEN pathway59
9.1KRAS, ERBB2, EGFR
23
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
9.1ERBB2, KRAS, EGFR
24
Show member pathways
9.1ERBB2, KRAS, EGFR
25
Show member pathways
Transcription Receptor mediated HIF regulation59
Development CNTF receptor signaling59
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades59
Translation Regulation activity of EIF259
Regulation of lipid metabolism Insulin signaling generic cascades59
Transcription PPAR Pathway59
Cell adhesion PLAU signaling59
Translation Regulation activity of EIF4F59
9.1EGFR, KRAS, ERBB2
26
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
9.1KRAS, EGFR, ERBB2
27
Show member pathways
9.1EGFR, KRAS, ERBB2
28
Show member pathways
9.1KRAS, ERBB2, EGFR
299.1EGFR, KRAS, ERBB2
30
Show member pathways
9.1EGFR, KRAS, ERBB2
319.1KRAS, EGFR, ERBB2
32
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways59
Immune response IL 1 signaling pathway59
9.0MUC5AC, EGFR, KRAS
33
Show member pathways
Signaling Pathways in Glioblastoma36
8.6KRAS, EML4, ERBB2, EGFR

Compounds for genes affiliated with Congenital Pulmonary Airway Malformation

About this section

Compounds related to Congenital Pulmonary Airway Malformation according to GeneCards Suite gene sharing:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1ag 14784410.3MUC5AC
2panitumumab44 50 1112.0KRAS, EGFR
3iressa609.9ERBB2, EGFR
4ag 1478 hydrochloride609.9EGFR, ERBB2
5ag 490609.9EGFR, ERBB2
6jnj 28871063 hydrochloride609.9EGFR, ERBB2
7afatinib50 1110.9EGFR, ERBB2
8pd158780449.9EGFR, ERBB2
9pertuzumab44 50 1111.9EGFR, ERBB2
10hrgbeta1449.9ERBB2, EGFR
11pki-166449.9ERBB2, EGFR
12quinazoline449.9EGFR, ERBB2
13erbstatin449.9EGFR, ERBB2
14capecitabine44 50 1111.8ERBB2, EGFR
15anastrozole44 50 1111.8ERBB2, EGFR
16exemestane44 50 60 1112.8ERBB2, EGFR
17regorafenib50 1110.8EGFR, KRAS
18pd153035449.8ERBB2, EGFR
19everolimus44 50 1111.8EGFR, ERBB2
20lapatinib44 50 1111.8ERBB2, EGFR
215-methylthioadenosine449.8ERBB2, EGFR
22sunitinib44 50 1111.8EGFR, ERBB2
23fulvestrant44 50 28 1112.8ERBB2, EGFR
24taxane449.7EGFR, ERBB2
25vinorelbine44 50 1111.7ERBB2, EGFR
26letrozole44 50 60 1112.6ERBB2, EGFR
27cetuximab44 50 1111.5EGFR, ERBB2, KRAS
28erlotinib44 50 1111.5ERBB2, KRAS, EGFR
29leucovorin44 50 1111.5ERBB2, EGFR, KRAS
30oxaliplatin44 50 1111.5EGFR, KRAS, ERBB2
31gefitinib44 50 1111.5ERBB2, EGFR, KRAS
32irinotecan44 50 1111.5ERBB2, EGFR, KRAS
33suberoylanilide hydroxamic acid449.5EGFR, ERBB2
34imatinib44 50 1111.5EGFR, ERBB2, KRAS
35batimastat44 60 1111.4EGFR, ERBB2
36paclitaxel44 50 1111.3KRAS, ERBB2, EGFR
37rapamycin449.2KRAS, EGFR, ERBB2
38topotecan44 1110.2EGFR, ERBB2
39phosphotyrosine449.2MUC5AC, EGFR, ERBB2
40n acetylcysteine449.2EGFR, ERBB2, MUC5AC
41ly294002449.2ERBB2, KRAS, EGFR
425fluorouracil448.9MUC5AC, ERBB2, KRAS, EGFR
43phosphatidylinositol448.8ERBB2, MUC5AC, KRAS, EGFR
44doxorubicin44 50 1110.7KRT20, ERBB2, EGFR
45vegf448.6EGFR, KRAS, KRT20, ERBB2
46progesterone44 28 60 24 1112.5EGFR, KRT20, ERBB2, MUC5AC
47testosterone44 60 24 1111.4ERBB2, EGFR, KRT20, MUC5AC
48paraffin448.1MUC5AC, ERBB2, KRT20, EGFR, KRAS
49estrogen448.1MUC5AC, ERBB2, KRAS, KRT20, EGFR
50tyrosine448.0EGFR, KRT20, KRAS, MUC5AC, ERBB2

GO Terms for genes affiliated with Congenital Pulmonary Airway Malformation

About this section

Cellular components related to Congenital Pulmonary Airway Malformation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:00432359.5EGFR, ERBB2

Biological processes related to Congenital Pulmonary Airway Malformation according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1MAPK cascadeGO:00001659.5KRAS, EGFR
2positive regulation of epithelial cell proliferationGO:00506799.5EGFR, ERBB2
3peptidyl-tyrosine phosphorylationGO:00181089.5EGFR, ERBB2
4positive regulation of MAP kinase activityGO:00434069.3EGFR, KRAS, ERBB2
5positive regulation of protein phosphorylationGO:00019349.3EGFR, KRAS, ERBB2
6fibroblast growth factor receptor signaling pathwayGO:00085439.3ERBB2, KRAS, EGFR
7Fc-epsilon receptor signaling pathwayGO:00380959.3EGFR, KRAS, ERBB2
8epidermal growth factor receptor signaling pathwayGO:00071739.2EGFR, KRAS, ERBB2
9neurotrophin TRK receptor signaling pathwayGO:00480119.2ERBB2, KRAS, EGFR
10axon guidanceGO:00074119.2EGFR, KRAS, ERBB2
11innate immune responseGO:00450878.8EGFR, KRAS, ERBB2

Molecular functions related to Congenital Pulmonary Airway Malformation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1epidermal growth factor-activated receptor activityGO:00050069.6EGFR, ERBB2
2receptor signaling protein tyrosine kinase activityGO:00047169.6EGFR, ERBB2
3transmembrane receptor protein tyrosine kinase activityGO:00047149.5EGFR, ERBB2
4transmembrane signaling receptor activityGO:00048889.5EGFR, ERBB2
5protein phosphatase bindingGO:00199039.4ERBB2, EGFR
6protein tyrosine kinase activityGO:00047139.2EGFR, ERBB2

Sources for Congenital Pulmonary Airway Malformation

About this section
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