CCAM
MCID: CNG390
MIFTS: 45

Congenital Pulmonary Airway Malformation (CCAM) malady

Respiratory diseases, Fetal diseases, Rare diseases categories

Summaries for Congenital Pulmonary Airway Malformation

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66Wikipedia, 34MalaCards
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Wikipedia:66 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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Sources:
50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 26ICD10
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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 50
congenital cystic adenomatoid malformation of the lung 50
congenital cystic adenomatous malformation of the lung 50
congenital cystic disease of the lung 50
ccam 50
cpam 50


External Ids:

SNOMED-CT via Orphanet60 111318005
ICD10 via Orphanet27 Q33.0
ICD1026 Q33.0

Related Diseases for Congenital Pulmonary Airway Malformation

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Sources:
18GeneCards, 19GeneDecks
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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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Sources:
50Orphanet
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Symptoms:

50
  • 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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Congenital Pulmonary Airway Malformation

Drug clinical trials:

Search ClinicalTrials for Congenital Pulmonary Airway Malformation

Search NIH Clinical Center for Congenital Pulmonary Airway Malformation

Search CenterWatch 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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34MalaCards
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MalaCards organs/tissues related to Congenital Pulmonary Airway Malformation:

34
Lung, Fetal lung

Animal Models for Congenital Pulmonary Airway Malformation or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Congenital Pulmonary Airway Malformation:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5EGFR, KRAS, ERBB2, MUC5AC

Publications for Congenital Pulmonary Airway Malformation

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53PubMed
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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, 16Gene 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:
51PathCards, 31KEGG, 52PharmGKB, 62Tocris Bioscience, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters, 58SinoBiological, 54QIAGEN, 55R&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 events39
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 ESR261
9.5EGFR, ERBB2
119.5EGFR, ERBB2
12
Show member pathways
Translation Non genomic rapid action of Androgen Receptor61
9.5ERBB2, EGFR
139.5ERBB2, EGFR
149.5ERBB2, EGFR
15
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
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 pathway61
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 network39
ErbB signaling pathway39
9.1EGFR, KRAS, ERBB2
26
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
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 pathways61
Immune response IL 1 signaling pathway61
9.0MUC5AC, KRAS, EGFR
33
Show member pathways
Signaling Pathways in Glioblastoma39
8.6EGFR, KRAS, ERBB2, EML4

Compounds for genes affiliated with Congenital Pulmonary Airway Malformation

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 25HMDB
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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 14784610.3MUC5AC
2panitumumab46 52 1212.0KRAS, EGFR
3iressa629.9ERBB2, EGFR
4ag 1478 hydrochloride629.9EGFR, ERBB2
5ag 490629.9EGFR, ERBB2
6jnj 28871063 hydrochloride629.9EGFR, ERBB2
7afatinib52 1210.9EGFR, ERBB2
8pd158780469.9EGFR, ERBB2
9pertuzumab46 52 1211.9EGFR, ERBB2
10hrgbeta1469.9ERBB2, EGFR
11pki-166469.9ERBB2, EGFR
12quinazoline469.9EGFR, ERBB2
13erbstatin469.9EGFR, ERBB2
14capecitabine46 52 1211.8ERBB2, EGFR
15anastrozole46 52 1211.8ERBB2, EGFR
16exemestane46 52 62 1212.8ERBB2, EGFR
17regorafenib52 1210.8EGFR, KRAS
18pd153035469.8ERBB2, EGFR
19everolimus46 52 1211.8EGFR, ERBB2
20lapatinib46 52 1211.8ERBB2, EGFR
215-methylthioadenosine469.8ERBB2, EGFR
22sunitinib46 52 1211.8EGFR, ERBB2
23fulvestrant46 52 30 1212.8ERBB2, EGFR
24taxane469.7EGFR, ERBB2
25vinorelbine46 52 1211.7ERBB2, EGFR
26letrozole46 52 62 1212.6ERBB2, EGFR
27cetuximab46 52 1211.5EGFR, ERBB2, KRAS
28erlotinib46 52 1211.5ERBB2, KRAS, EGFR
29leucovorin46 52 1211.5ERBB2, EGFR, KRAS
30oxaliplatin46 52 1211.5EGFR, KRAS, ERBB2
31gefitinib46 52 1211.5ERBB2, EGFR, KRAS
32irinotecan46 52 1211.5ERBB2, EGFR, KRAS
33suberoylanilide hydroxamic acid469.5EGFR, ERBB2
34imatinib46 52 1211.5EGFR, ERBB2, KRAS
35batimastat46 62 1211.4EGFR, ERBB2
36paclitaxel46 52 1211.3KRAS, ERBB2, EGFR
37rapamycin469.2KRAS, EGFR, ERBB2
38topotecan46 1210.2EGFR, ERBB2
39phosphotyrosine469.2MUC5AC, EGFR, ERBB2
40n acetylcysteine469.2EGFR, ERBB2, MUC5AC
41ly294002469.2ERBB2, KRAS, EGFR
425fluorouracil468.9MUC5AC, ERBB2, KRAS, EGFR
43phosphatidylinositol468.8ERBB2, MUC5AC, KRAS, EGFR
44doxorubicin46 52 1210.7KRT20, ERBB2, EGFR
45vegf468.6EGFR, KRAS, KRT20, ERBB2
46progesterone46 30 62 25 1212.5EGFR, KRT20, ERBB2, MUC5AC
47testosterone46 62 25 1211.4ERBB2, EGFR, KRT20, MUC5AC
48paraffin468.1MUC5AC, ERBB2, KRT20, EGFR, KRAS
49estrogen468.1MUC5AC, ERBB2, KRAS, KRT20, EGFR
50tyrosine468.0EGFR, KRT20, KRAS, MUC5AC, ERBB2

GO Terms for genes affiliated with Congenital Pulmonary Airway Malformation

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet