CCAM
MCID: CNG390
MIFTS: 41

Congenital Pulmonary Airway Malformation (CCAM) malady

Categories: Respiratory diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Congenital Pulmonary Airway Malformation

Aliases & Descriptions for Congenital Pulmonary Airway Malformation:

Name: Congenital Pulmonary Airway Malformation 56
Congenital Cystic Adenomatoid Malformation of the Lung 56
Congenital Cystic Adenomatous Malformation of the Lung 56
Congenital Cystic Disease of the Lung 56
Ccam 56
Cpam 56

Characteristics:

Orphanet epidemiological data:

56
congenital pulmonary airway malformation
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); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA2444
ICD10 via Orphanet 34 Q33.0
ICD10 33 Q33.0

Summaries for Congenital Pulmonary Airway Malformation

MalaCards based summary : Congenital Pulmonary Airway Malformation, also known as congenital cystic adenomatoid malformation of the lung, is related to congenital pulmonary airway malformation type 2 and congenital pulmonary airway malformation type 3, and has symptoms including polyhydramnios, premature birth and respiratory insufficiency. An important gene associated with Congenital Pulmonary Airway Malformation is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Cytoskeletal Signaling and Central carbon metabolism in cancer. The drugs Beractant and Poractant alfa have been mentioned in the context of this disorder. Affiliated tissues include lung and fetal lung.

Wikipedia : 71 Congenital pulmonary airway malformation (CPAM), formerly known as congenital cystic adenomatoid... more...

Related Diseases for Congenital Pulmonary Airway Malformation

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 138)
id Related Disease Score Top Affiliating Genes
1 congenital pulmonary airway malformation type 2 12.2
2 congenital pulmonary airway malformation type 3 12.2
3 congenital pulmonary airway malformation type 0 12.2
4 congenital pulmonary airway malformation type 1 12.1
5 congenital pulmonary airway malformation type 4 12.1
6 severe pre-eclampsia 10.2 EGFR KRAS
7 pelvic inflammatory disease 10.2 KRAS KRT20
8 bile duct disease 10.2 EGFR KRAS
9 large cell neuroendocrine carcinoma 10.2 KRAS KRT20
10 giant cell tumor 10.2 KRAS KRT20
11 precursor t-lymphoblastic lymphoma/leukemia 10.2 EGFR KRAS
12 tabes dorsalis 10.2 KRAS KRT20
13 meninges hemangiopericytoma 10.2 KRAS KRT20
14 intermediate malignant teratoma 10.2 EGFR KRAS
15 tumor of exocrine pancreas 10.2 EGFR KRT20
16 spongiotic dermatitis 10.2 EGFR KRAS
17 neuroretinitis 10.2 KRAS KRT20
18 vascular hemostatic disease 10.2 EGFR KRAS
19 anus adenocarcinoma 10.2 EGFR KRT20
20 parachordoma 10.2 KRAS NKX2-1
21 chromophil adenoma of the kidney 10.1 KRT20 NKX2-1
22 bone deterioration disease 10.1 KRAS NKX2-1
23 breast pericanalicular fibroadenoma 10.1 KRT20 NKX2-1
24 gastrointestinal system benign neoplasm 10.1 KRAS NKX2-1
25 spastic diplegia infantile type 10.1 EGFR KRAS
26 myxedema 10.1 EGFR KRAS
27 sphenoid sinus squamous cell carcinoma 10.1 KRT20 NKX2-1
28 chondroblastoma 10.1 KRT20 NKX2-1
29 ovarian embryonal carcinoma 10.1 EGFR NKX2-1
30 cranial nerve disease 10.1 KRT20 NKX2-1
31 villous adenocarcinoma 10.1 NKX2-1 SFTPB
32 cavernous hemangioma of face 10.1 NKX2-1 SFTPB
33 blastoma 10.1
34 adenocarcinoma 10.1
35 pleuropulmonary blastoma 10.1
36 uterine ligament mucinous adenocarcinoma 10.1 KRAS KRT7
37 radiculopathy 10.1 KRT20 KRT7
38 adult myxoid chondrosarcoma 10.1 KRT20 KRT7
39 bronchus mucoepidermoid carcinoma 10.1 KRT20 KRT7
40 postpoliomyelitis syndrome 10.1 KRAS KRT7
41 peritoneal benign neoplasm 10.1 KRT20 KRT7
42 osteochondritis dissecans 10.1 NKX2-1 SFTPB
43 steroid-induced glaucoma - borderline 10.1 KRT20 KRT7
44 non specific chronic endometritis 10.1 KRT20 KRT7
45 bone marrow cancer 10.1 NKX2-1 SFTPB
46 dystonia 10.1 KRT20 KRT7
47 anal canal paget's disease 10.1 KRT20 KRT7
48 nonossifying fibromyxoid tumor 10.1 KRT20 KRT7
49 waterhouse-friderichsen syndrome 10.1 KRT20 KRT7
50 trophoblastic neoplasm 10.1 KRT20 KRT7

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



Diseases related to Congenital Pulmonary Airway Malformation

Symptoms & Phenotypes for Congenital Pulmonary Airway Malformation

Human phenotypes related to Congenital Pulmonary Airway Malformation:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polyhydramnios 56 32 Occasional (29-5%) HP:0001561
2 premature birth 56 32 Occasional (29-5%) HP:0001622
3 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
4 abnormality of the pleura 56 32 Occasional (29-5%) HP:0002103
5 abnormality of the respiratory system 56 Very frequent (99-80%)

Drugs & Therapeutics for Congenital Pulmonary Airway Malformation

Drugs for Congenital Pulmonary Airway Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 112)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Beractant Approved Phase 4 108778-82-1
2 Poractant alfa Approved Phase 4 129069-19-8
3 Adrenergic Agents Phase 4,Phase 1
4 Adrenergic Agonists Phase 4,Phase 1
5 Adrenergic beta-2 Receptor Agonists Phase 4,Phase 1
6 Adrenergic beta-Agonists Phase 4,Phase 1
7 Neurotransmitter Agents Phase 4,Phase 1
8 Albuterol Phase 4,Phase 1
9 Tocolytic Agents Phase 4,Phase 1
10 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
12 Respiratory System Agents Phase 4,Phase 1,Phase 2
13 Autonomic Agents Phase 4,Phase 1
14 Bronchodilator Agents Phase 4,Phase 1
15 Pulmonary Surfactants Phase 4
16 Calamus Nutraceutical Phase 4
17
Bupivacaine Approved, Investigational Phase 3 2180-92-9, 38396-39-3 2474
18
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
19 Analgesics Phase 3,Phase 2
20 Adjuvants, Anesthesia Phase 3
21 Narcotics Phase 3
22 Analgesics, Opioid Phase 3
23 Anesthetics Phase 3
24 Anesthetics, General Phase 3
25 Anesthetics, Intravenous Phase 3
26 Anesthetics, Local Phase 3
27 Central Nervous System Depressants Phase 3
28
Ibuprofen Approved Phase 2 15687-27-1 3672
29
Betamethasone Approved, Vet_approved Phase 1, Phase 2 378-44-9 9782
30
Meclocycline Phase 2 2013-58-3 5480760
31 glucocorticoids Phase 1, Phase 2
32 Cyclooxygenase Inhibitors Phase 2
33 Analgesics, Non-Narcotic Phase 2
34 Hormone Antagonists Phase 1, Phase 2
35 Hormones Phase 1, Phase 2
36 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
37 Anti-Inflammatory Agents Phase 2,Phase 1
38 Anti-Inflammatory Agents, Non-Steroidal Phase 2
39 Antirheumatic Agents Phase 2
40 Betamethasone Valerate Phase 1, Phase 2 2152-44-5
41 Betamethasone benzoate Phase 1, Phase 2
42 Betamethasone sodium phosphate Phase 1, Phase 2
43 Betamethasone-17,21-dipropionate Phase 1, Phase 2
44
Nitric Oxide Approved 10102-43-9 145068
45
Menthol Approved 2216-51-5 16666
46
Heparin Approved, Investigational 9005-49-6 772 46507594
47
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
48
Diazepam Approved, Illicit, Vet_approved 439-14-5 3016
49
Epinephrine Approved, Vet_approved 51-43-4 5816
50
Midazolam Approved, Illicit 59467-70-8 4192

Interventional clinical trials:

(show all 36)
id Name Status NCT ID Phase
1 Feasibility Study Over the NAVA Mode in Noninvasive Ventilation After Cardiac Surgery in Infants. Completed NCT01570933 Phase 4
2 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects. Not yet recruiting NCT02914652 Phase 4
3 Curosurf and Survanta Treatment(CAST)of RDS in Very Premature Infants Terminated NCT00767039 Phase 4
4 Effects of Additional Fentanyl to Epidural Bupivacaine for Post-Thoracotomy Pain in Neonates Completed NCT00286143 Phase 3
5 Evaluation of the Lung Capillary Blood Volume in Children With Sickle Cell Disease Completed NCT00560261 Phase 3
6 No Treatment Versus Oral Ibuprofen Treatment for Patent Ductus Arteriosus in Preterm Infants Recruiting NCT02128191 Phase 2
7 Prenatal Steroids for Treatment of Congenital Cystic Adenomatoid Malformations (CCAM) Terminated NCT00670956 Phase 1, Phase 2
8 Quantifying the Presence of Lung Disease and Pulmonary Hypertension in Children With Sickle Cell Disease Completed NCT01895998 Phase 1
9 A Study to Assess the Safety, Tolerability and Potential Efficacy of a Tracheal Replacement Consisting of a Tissue-engineered Tracheal Scaffold With Seeded Mesenchymal Cells Active, not recruiting NCT02949414 Phase 1
10 Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia Unknown status NCT01929356
11 Comparison of Effects of PEEP Levels on Respiratory Mechanics in Patients Undergoing Laparoscopic Cholecystectomy Completed NCT02439801
12 Airway Inflammation in Congenital Diaphragmatic Hernia Patients Completed NCT02453750
13 Effects of Weight Loss on Cardio-respiratory Function Completed NCT01410487
14 Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115
15 Functional Modeling of the Pediatric Airway Completed NCT01690078
16 Tracheobronchomalacia: Treatment Outcomes Completed NCT00550602
17 Pressure Dependent Tracheal Obstruction in Copd Patients Completed NCT01679808
18 Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
19 Patent Ductus Arteriosus (PDA) Screening Trial Completed NCT01031316
20 Congenital Lung Anomalies (CLA) Swiss Database Recruiting NCT03044769
21 Review of the Paediatric Pleuropulmonary Blastoma French Series Recruiting NCT03044834
22 Fetoscopic Endoluminal Tracheal Occlusion in Severe Left Congenital Diaphragmatic Hernia Recruiting NCT02549820
23 Lung Fluid and Peripheral Blood Neutrophil IL-5 Surface Receptor in Children With Asthma Recruiting NCT02866487
24 Sustained Aeration of Infant Lungs Trial Recruiting NCT02139800
25 Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease Recruiting NCT00807482
26 Open Lung Strategy in Critically Ill Morbid Obese Patients Recruiting NCT02503241
27 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
28 Etiologies, Investigations and Outcomes of Patients Presenting With Hemoptysis Recruiting NCT02913365
29 Symptomatic Treatment of Excessive Dynamic Airway Collapse Using Daytime Portable Continuous Positive Airway Pressure Recruiting NCT02763631
30 Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care Recruiting NCT01431326
31 Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations Active, not recruiting NCT01732185
32 Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease Active, not recruiting NCT00722878
33 Rare Genetic Disorders of the Breathing Airways Active, not recruiting NCT00323167
34 Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents Active, not recruiting NCT00450918
35 Computer Models of Airways in Children and Young Adults With Sleep Apnea and Down Syndrome Active, not recruiting NCT01902407
36 Airway Collapse in Patients With Mounier-Kuhn Syndrome: Titration With Positive Pressure to Reduce Collapse Not yet recruiting NCT03101059

Search NIH Clinical Center for Congenital Pulmonary Airway Malformation

Genetic Tests for Congenital Pulmonary Airway Malformation

Anatomical Context for Congenital Pulmonary Airway Malformation

MalaCards organs/tissues related to Congenital Pulmonary Airway Malformation:

39
Lung, Fetal Lung

Publications for Congenital Pulmonary Airway Malformation

Articles related to Congenital Pulmonary Airway Malformation:

(show top 50) (show all 51)
id Title Authors Year
1
It's Rare So Be Aware: Pleuropulmonary Blastoma Mimicking Congenital Pulmonary Airway Malformation. ( 28405541 )
2017
2
Is congenital pulmonary airway malformation really a rare disease? Result of a prospective registry with universal antenatal screening program. ( 27770196 )
2017
3
Refractory tension pneumothorax as a result of an internally displaced thoracoamniotic shunt in an infant with a congenital pulmonary airway malformation. ( 27469386 )
2016
4
Reply to Letter to the Editor: Surgical versus conservative management of congenital pulmonary airway malformation in children: A systematic review and meta-analysis" by Kapralik et al J Pediatr Surg 51 (2016) 508-512. ( 27577184 )
2016
5
Letter to the Editor: Surgical versus conservative management of congenital pulmonary airway malformation in children: A systematic review and meta-analysis" by Kapralik et al J Pediatr Surg 51 (2016) 508-512. ( 27497496 )
2016
6
Reply to the Letter to the Editor 'Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV'. ( 27577236 )
2016
7
Retrospective Evaluation of Children with Congenital Pulmonary Airway Malformation: A Single Center Experience of 20 Years. ( 26942995 )
2016
8
Surgical intervention for congenital pulmonary airway malformation (CPAM) patients with preoperative pneumonia and abscess formation: "open versus thoracoscopic lobectomy". ( 26661941 )
2016
9
Congenital pulmonary airway malformation with atrial septal defect and pulmonary hypertension for lobectomy-anesthetic considerations. ( 27052089 )
2016
10
Congenital pulmonary airway malformation (CPAM) with initial presentation in an adult: a rare presentation of a rare disease. ( 27671988 )
2016
11
Congenital pulmonary airway malformation in a 36 year-old female. ( 27141433 )
2016
12
Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV. ( 27562209 )
2016
13
Prenatal and Postnatal Management of Congenital Pulmonary Airway Malformation. ( 27070354 )
2016
14
Direct Tracheobronchopexy and Posterior Descending Aortopexy for Severe Left Mainstem Bronchomalacia Associated With Congenital Pulmonary Airway Malformation and Left Circumflex Aortic Arch. ( 27343517 )
2016
15
Surgical versus conservative management of congenital pulmonary airway malformation in children: A systematic review and meta-analysis. ( 26775193 )
2016
16
Surveillance of fetal lung lesions using the congenital pulmonary airway malformation volume ratio: natural history and outcomes. ( 26713859 )
2016
17
Prenatal Diagnosis and Evaluation of Sonographic Predictors for Intervention and Adverse Outcome in Congenital Pulmonary Airway Malformation. ( 26978067 )
2016
18
Congenital pulmonary airway malformation - A study of 2 cases. ( 27772928 )
2016
19
Congenital pulmonary airway malformation and sequestration: Two standpoints for a single condition. ( 25883453 )
2015
20
Congenital Pulmonary Airway Malformation in an Adult Male: A Case Report with Literature Review. ( 26236529 )
2015
21
Comparison of congenital pulmonary airway malformation volume ratios calculated by ultrasound and magnetic resonance imaging. ( 26607147 )
2015
22
Pleuropulmonary Blastoma in a Neonate Diagnosed Prenatally as Congenital Pulmonary Airway Malformation. ( 26227654 )
2015
23
Unusual signal intensity of congenital pulmonary airway malformation on fetal magnetic resonance imaging. ( 25875635 )
2015
24
Can congenital pulmonary airway malformation be distinguished from Type I pleuropulmonary blastoma based on clinical and radiological features? ( 26561249 )
2015
25
Congenital pulmonary airway malformation: A report of two cases. ( 25984523 )
2015
26
Multifocal synchronous mucinous adenocarcinomas arising in congenital pulmonary airway malformation: a case report with molecular study. ( 25066006 )
2014
27
Spontaneous pneumothorax in a teenager with prior congenital pulmonary airway malformation. ( 26029523 )
2014
28
EGFR mutation of adenocarcinoma in congenital cystic adenomatoid malformation/congenital pulmonary airway malformation: a case report. ( 24482415 )
2014
29
Congenital Pulmonary Airway Malformation Type 2: A Case Report with Review of the Literature. ( 24715554 )
2014
30
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
31
A fatal case of congenital pulmonary airway malformation with aspergillosis in an adult. ( 24672262 )
2014
32
Echinoderm microtubule-associated protein-like 4 (EML4)-anaplastic lymphoma kinase (ALK) rearrangement in congenital pulmonary airway malformation. ( 23357247 )
2013
33
Congenital pulmonary airway malformation. ( 24156683 )
2013
34
Congenital pulmonary airway malformation presenting as unilateral cystic lung disease. ( 24127801 )
2013
35
Type 2 congenital pulmonary airway malformation and congenital nephrotic syndrome: report of a new association. ( 23350653 )
2013
36
Magnetic resonance vs. sonographic imaging: diagnostics of a large congenital pulmonary airway malformation. ( 22764758 )
2013
37
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
38
Identical twins with lethal congenital pulmonary airway malformation type 0 (acinar dysplasia): further evidence of familial tendency. ( 22413819 )
2012
39
Treatment of congenital pulmonary airway malformation induced hydrops fetalis via percutaneous sclerotherapy. ( 22354268 )
2012
40
Congenital pulmonary airway malformation with mucoepidermoid carcinoma: a case report and review of literature. ( 23455800 )
2012
41
Microcystic congenital pulmonary airway malformation with hydrops fetalis: steroids vs open fetal resection. ( 22244389 )
2012
42
Congenital pulmonary airway malformation (CPAM) [congenital cystic adenomatoid malformation] associated with tracheoesophageal fistula and agensesis of the corpus callosum. ( 22414029 )
2012
43
Aspergilloma in a patient with an occult congenital pulmonary airway malformation. ( 21905264 )
2012
44
Pediatric primary lung adenocarcinoma in the absence of congenital pulmonary airway malformation. ( 22447504 )
2012
45
MUC5AC, cytokeratin 20 and HER2 expression and K-RAS mutations within mucinogenic growth in congenital pulmonary airway malformations. ( 22348416 )
2012
46
Squamous metaplasia in the cyst epithelium of type 1 congenital pulmonary airway malformation after thoracoamniotic shunt placement. ( 22386520 )
2012
47
Congenital pulmonary airway malformation: a case report and review of the literature. ( 21762550 )
2012
48
Mucinous adenocarcinoma of the lung in association with congenital pulmonary airway malformation. ( 21034957 )
2010
49
Expression of epidermal growth factor receptor, but not K-RAS mutations, is present in congenital cystic airway malformation/congenital pulmonary airway malformation. ( 17714760 )
2007
50
Intralobar pulmonary sequestration associated with a congenital pulmonary airway malformation type II. ( 18363152 )
2007

Variations for Congenital Pulmonary Airway Malformation

Expression for Congenital Pulmonary Airway Malformation

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

Pathways for Congenital Pulmonary Airway Malformation

GO Terms for Congenital Pulmonary Airway Malformation

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of MAP kinase activity GO:0043406 9.32 EGFR KRAS
2 epidermal growth factor receptor signaling pathway GO:0007173 9.26 EGFR KRAS
3 ERBB2 signaling pathway GO:0038128 9.16 EGFR KRAS
4 epithelial tube branching involved in lung morphogenesis GO:0060441 8.96 KRAS NKX2-1
5 cerebral cortex cell migration GO:0021795 8.62 EGFR NKX2-1

Sources for Congenital Pulmonary Airway Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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