CCAM
MCID: CNG390
MIFTS: 45

Congenital Pulmonary Airway Malformation (CCAM) malady

Respiratory diseases, Fetal diseases, Rare diseases categories
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Summaries for Congenital Pulmonary Airway Malformation

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65Wikipedia, 33MalaCards
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Wikipedia:65 Congenital pulmonary airway malformation (CPAM), formerly known as congenital cystic adenomatoid... more...

MalaCards: 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 respiratory distress/dyspnea/respiratory failure/lung volume reduction, abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax and polyhydramnios. An important gene associated with Congenital Pulmonary Airway Malformation is KRAS (Kirsten rat sarcoma viral oncogene homolog), and among its related pathways are Dorso-ventral axis formation 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.

Aliases & Classifications for Congenital Pulmonary Airway Malformation

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49Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


Aliases & Descriptions:

congenital pulmonary airway malformation 49
congenital cystic adenomatoid malformation of the lung 49
congenital cystic adenomatous malformation of the lung 49
congenital cystic disease of the lung 49
ccam 49
cpam 49


External Ids:

SNOMED-CT via Orphanet59 111318005
ICD10 via Orphanet26 Q33.0
ICD1025 Q33.0

Related Diseases for Congenital Pulmonary Airway Malformation

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Sources:
17GeneCards, 18GeneDecks
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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/GeneDecks gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1mucoepidermoid carcinoma30.3MUC5AC, EGFR
2adenocarcinoma30.0EML4, MUC5AC, ERBB2, KRAS, KRT20, EGFR
3prune belly syndrome10.6
4congenital pulmonary airway malformation type 310.4
5blastoma10.4
6esophageal atresia10.4
7ehlers-danlos syndrome10.4
8esophagitis10.4
9pneumothorax10.4
10pulmonary blastoma10.4
11alveolar capillary dysplasia10.4
12spontaneous pneumothorax10.4
13hydrops fetalis10.3
14congenital pulmonary airway malformation type 210.3
15congenital pulmonary airway malformation type 410.3
16congenital pulmonary airway malformation type 010.3
17congenital pulmonary airway malformation type 110.3
18mucinous adenocarcinoma10.2
19nephrotic syndrome10.2
20pulmonary sequestration10.2
21tracheoesophageal fistula10.2
22fetal lung interstitial tumor10.2
23pseudomyxoma peritonei10.1KRT20, MUC5AC
24pancreatic ductal carcinoma10.0KRT20, MUC5AC
25cervical adenocarcinoma10.0MUC5AC, KRT20
26rectal neoplasm10.0KRAS, KRT20
27barrett's esophagus10.0KRT20, MUC5AC
28exanthem10.0EGFR, KRAS
29pancreatitis, chronic10.0KRAS, MUC5AC
30familial adenomatous polyposis10.0KRAS, MUC5AC
31gastric cancer, somatic10.0ERBB2, KRAS
32mammary paget's disease10.0KRT20, ERBB2
33malignant mixed mullerian tumor10.0KRAS, ERBB2
34cutaneous paget's disease10.0ERBB2, KRT20
35colon adenocarcinoma10.0MUC5AC, KRAS, KRT20
36adenoid cystic carcinoma10.0KRT20, ERBB2
37biliary tract neoplasm10.0EGFR, ERBB2
38pancreatic cancer10.0MUC5AC, KRAS, EGFR
39inflammatory breast carcinoma10.0EGFR, ERBB2
40adenosquamous carcinoma10.0MUC5AC, KRT20, EGFR
41ductal carcinoma in situ10.0EGFR, ERBB2
42adenoma10.0MUC5AC, KRAS, KRT20
43lung benign neoplasm10.0KRAS, KRT20, EGFR
44papillary carcinoma10.0KRT20, ERBB2
45lung small cell carcinoma10.0KRAS, KRT20, EGFR
46diarrhea10.0EGFR, ERBB2
47tubular adenocarcinoma10.0KRT20, ERBB2, MUC5AC
48colon cancer10.0KRAS, KRT20, EGFR
49gastric adenocarcinoma10.0ERBB2, KRAS, KRT20
50non-small cell lung carcinoma10.0EGFR, KRAS, 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

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49Orphanet
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Symptoms:

49
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • polyhydramnios
  • structural anomalies of the respiratory system and diaphragm
  • prematurity
  • antenatal period/pregnancy anomalies

Drugs & Therapeutics for Congenital Pulmonary Airway Malformation

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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

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Anatomical Context for Congenital Pulmonary Airway Malformation

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33MalaCards
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MalaCards organs/tissues related to Congenital Pulmonary Airway Malformation:

33
Lung, Fetal lung

Animal Models for Congenital Pulmonary Airway Malformation or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Congenital Pulmonary Airway Malformation:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5EGFR, KRAS, ERBB2, MUC5AC

Publications for Congenital Pulmonary Airway Malformation

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52PubMed
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Articles related to Congenital Pulmonary Airway Malformation:

(show all 11)
idTitleAuthorsYear
1
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
2
Type 2 congenital pulmonary airway malformation and congenital nephrotic syndrome: report of a new association. (23350653)
2013
3
MUC5AC, cytokeratin 20 and HER2 expression and K-RAS mutations within mucinogenic growth in congenital pulmonary airway malformations. (22348416)
2012
4
Congenital pulmonary airway malformation with mucoepidermoid carcinoma: a case report and review of literature. (23455800)
2012
5
Congenital pulmonary airway malformation (CPAM) [congenital cystic adenomatoid malformation] associated with tracheoesophageal fistula and agensesis of the corpus callosum. (22414029)
2012
6
Microcystic congenital pulmonary airway malformation with hydrops fetalis: steroids vs open fetal resection. (22244389)
2012
7
Treatment of congenital pulmonary airway malformation induced hydrops fetalis via percutaneous sclerotherapy. (22354268)
2012
8
Mucinous adenocarcinoma of the lung in association with congenital pulmonary airway malformation. (21034957)
2010
9
Expression of epidermal growth factor receptor, but not K-RAS mutations, is present in congenital cystic airway malformation/congenital pulmonary airway malformation. (17714760)
2007
10
Intralobar pulmonary sequestration associated with a congenital pulmonary airway malformation type II. (18363152)
2007
11
Congenital pulmonary airway malformation (congenital cystic adenomatoid malformation) with multiple extrapulmonary anomalies: autopsy report of a fetus at 19 weeks of gestation. (15630540)
2004

Variations for Congenital Pulmonary Airway Malformation

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Expression for genes affiliated with Congenital Pulmonary Airway Malformation

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Pulmonary Airway Malformation

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

Pathways for genes affiliated with Congenital Pulmonary Airway Malformation

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Sources:
50PathCards, 30KEGG, 51PharmGKB, 61Tocris Bioscience, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 57SinoBiological, 53QIAGEN, 54R&D Systems
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Pathways related to Congenital Pulmonary Airway Malformation according to GeneCards/GeneDecks:

(show all 33)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6KRAS, EGFR
2
Show member pathways
9.6KRAS, EGFR
3
Show member pathways
EGFR-dependent Endothelin signaling events38
9.6EGFR, KRAS
49.6KRAS, EGFR
5
Show member pathways
9.5EGFR, ERBB2
69.5ERBB2, EGFR
79.5EGFR, ERBB2
89.5EGFR, ERBB2
9
Show member pathways
9.5ERBB2, EGFR
10
Show member pathways
Development Ligand independent activation of ESR1 and ESR260
9.5EGFR, ERBB2
119.5EGFR, ERBB2
12
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
9.5ERBB2, EGFR
139.5ERBB2, EGFR
149.5ERBB2, EGFR
15
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
9.1ERBB2, KRAS, EGFR
16
Show member pathways
9.1ERBB2, KRAS, EGFR
17
Show member pathways
9.1EGFR, KRAS, ERBB2
189.1ERBB2, KRAS, EGFR
19
Show member pathways
9.1EGFR, KRAS, ERBB2
20
Show member pathways
Signal transduction PTEN pathway60
9.1EGFR, KRAS, ERBB2
21
Show member pathways
9.1ERBB2, KRAS, EGFR
22
Show member pathways
9.1ERBB2, KRAS, EGFR
239.1EGFR, KRAS, ERBB2
249.1ERBB2, KRAS, EGFR
25
Show member pathways
ErbB receptor signaling network38
ErbB signaling pathway38
9.1EGFR, KRAS, ERBB2
26
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.1EGFR, KRAS, ERBB2
279.1ERBB2, KRAS, EGFR
28
Show member pathways
9.1ERBB2, KRAS, EGFR
299.1EGFR, KRAS, ERBB2
30
Show member pathways
9.1EGFR, KRAS, ERBB2
31
Show member pathways
9.1EGFR, KRAS, ERBB2
32
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways60
Immune response IL 1 signaling pathway60
9.0MUC5AC, KRAS, EGFR
33
Show member pathways
Signaling Pathways in Glioblastoma38
8.6EGFR, KRAS, ERBB2, EML4

Compounds for genes affiliated with Congenital Pulmonary Airway Malformation

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Sources:
45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 24HMDB
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Compounds related to Congenital Pulmonary Airway Malformation according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1ag 14784510.3MUC5AC
2panitumumab45 51 1112.0KRAS, EGFR
3iressa619.9ERBB2, EGFR
4ag 1478 hydrochloride619.9EGFR, ERBB2
5ag 490619.9EGFR, ERBB2
6jnj 28871063 hydrochloride619.9EGFR, ERBB2
7afatinib51 1110.9EGFR, ERBB2
8pd158780459.9EGFR, ERBB2
9pertuzumab45 51 1111.9EGFR, ERBB2
10hrgbeta1459.9ERBB2, EGFR
11pki-166459.9ERBB2, EGFR
12quinazoline459.9EGFR, ERBB2
13erbstatin459.9EGFR, ERBB2
14capecitabine45 51 1111.8ERBB2, EGFR
15anastrozole45 51 1111.8ERBB2, EGFR
16exemestane45 51 61 1112.8ERBB2, EGFR
17regorafenib51 1110.8EGFR, KRAS
18pd153035459.8ERBB2, EGFR
19everolimus45 51 1111.8EGFR, ERBB2
20lapatinib45 51 1111.8ERBB2, EGFR
215-methylthioadenosine459.8ERBB2, EGFR
22sunitinib45 51 1111.8EGFR, ERBB2
23fulvestrant45 51 29 1112.8ERBB2, EGFR
24taxane459.7EGFR, ERBB2
25vinorelbine45 51 1111.7ERBB2, EGFR
26letrozole45 51 61 1112.6ERBB2, EGFR
27cetuximab45 51 1111.5EGFR, ERBB2, KRAS
28erlotinib45 51 1111.5ERBB2, KRAS, EGFR
29leucovorin45 51 1111.5ERBB2, EGFR, KRAS
30oxaliplatin45 51 1111.5EGFR, KRAS, ERBB2
31gefitinib45 51 1111.5ERBB2, EGFR, KRAS
32irinotecan45 51 1111.5ERBB2, EGFR, KRAS
33suberoylanilide hydroxamic acid459.5EGFR, ERBB2
34imatinib45 51 1111.5EGFR, ERBB2, KRAS
35batimastat45 61 1111.4EGFR, ERBB2
36paclitaxel45 51 1111.3KRAS, ERBB2, EGFR
37rapamycin459.2KRAS, EGFR, ERBB2
38topotecan45 1110.2EGFR, ERBB2
39phosphotyrosine459.2MUC5AC, EGFR, ERBB2
40n acetylcysteine459.2EGFR, ERBB2, MUC5AC
41ly294002459.2ERBB2, KRAS, EGFR
425fluorouracil458.9MUC5AC, ERBB2, KRAS, EGFR
43phosphatidylinositol458.8ERBB2, MUC5AC, KRAS, EGFR
44doxorubicin45 51 1110.7KRT20, ERBB2, EGFR
45vegf458.6EGFR, KRAS, KRT20, ERBB2
46progesterone45 29 61 24 1112.5EGFR, KRT20, ERBB2, MUC5AC
47testosterone45 61 24 1111.4ERBB2, EGFR, KRT20, MUC5AC
48paraffin458.1MUC5AC, ERBB2, KRT20, EGFR, KRAS
49estrogen458.1MUC5AC, ERBB2, KRAS, KRT20, EGFR
50tyrosine458.0EGFR, KRT20, KRAS, MUC5AC, ERBB2

GO Terms for genes affiliated with Congenital Pulmonary Airway Malformation

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16Gene Ontology
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Cellular components related to Congenital Pulmonary Airway Malformation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:0432359.5EGFR, ERBB2

Biological processes related to Congenital Pulmonary Airway Malformation according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1MAPK cascadeGO:0001659.5KRAS, EGFR
2positive regulation of epithelial cell proliferationGO:0506799.5EGFR, ERBB2
3peptidyl-tyrosine phosphorylationGO:0181089.5EGFR, ERBB2
4positive regulation of MAP kinase activityGO:0434069.3EGFR, KRAS, ERBB2
5positive regulation of protein phosphorylationGO:0019349.3EGFR, KRAS, ERBB2
6fibroblast growth factor receptor signaling pathwayGO:0085439.3ERBB2, KRAS, EGFR
7Fc-epsilon receptor signaling pathwayGO:0380959.3EGFR, KRAS, ERBB2
8epidermal growth factor receptor signaling pathwayGO:0071739.2EGFR, KRAS, ERBB2
9neurotrophin TRK receptor signaling pathwayGO:0480119.2ERBB2, KRAS, EGFR
10axon guidanceGO:0074119.2EGFR, KRAS, ERBB2
11innate immune responseGO:0450878.8EGFR, KRAS, ERBB2

Molecular functions related to Congenital Pulmonary Airway Malformation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1epidermal growth factor-activated receptor activityGO:0050069.6EGFR, ERBB2
2receptor signaling protein tyrosine kinase activityGO:0047169.6EGFR, ERBB2
3transmembrane receptor protein tyrosine kinase activityGO:0047149.5EGFR, ERBB2
4transmembrane signaling receptor activityGO:0048889.5EGFR, ERBB2
5protein phosphatase bindingGO:0199039.4ERBB2, EGFR
6protein tyrosine kinase activityGO:0047139.2EGFR, ERBB2

Products for genes affiliated with Congenital Pulmonary Airway Malformation

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Pulmonary Airway Malformation

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet