CLE
MCID: EMP011
MIFTS: 34

Emphysema, Congenital Lobar (CLE)

Categories: Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Emphysema, Congenital Lobar

MalaCards integrated aliases for Emphysema, Congenital Lobar:

Name: Emphysema, Congenital Lobar 58 54
Congenital Lobar Emphysema 77 54 60 30
Cle 58 77 54
Congenital Lobar Hyperinflation 60
Infantile Lobar Hyperinflation 60

Characteristics:

Orphanet epidemiological data:

60
congenital lobar emphysema
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adult,All ages,Antenatal,Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
emphysema, congenital lobar:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 130710
MESH via Orphanet 46 C535735
ICD10 via Orphanet 35 Q33.8
UMLS via Orphanet 75 C0265797
Orphanet 60 ORPHA1928
MedGen 43 C0265797

Summaries for Emphysema, Congenital Lobar

NIH Rare Diseases : 54 Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. Signs and symptoms may include difficulty breathing and respiratory distress in infancy, an enlarged chest, compressed lung tissue, cyanosis, and underdevelopment of the cartilage that supports the bronchial tube (bronchial hypoplasia). This disorder may be severe enough to cause associated heart problems (15% of cases) or so mild as to never become apparent. Some cases may be caused by autosomal dominant inheritance while others occur for no apparent reason (sporadic).

MalaCards based summary : Emphysema, Congenital Lobar, also known as congenital lobar emphysema, is related to leukoencephalopathy with vanishing white matter and lupus erythematosus tumidus. The drugs Protein C and Serine have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and kidney, and related phenotypes are emphysema and respiratory distress

Wikipedia : 77 The Crawford expedition was a campaign on the western front of the American Revolutionary War, and one... more...

Description from OMIM: 130710

Related Diseases for Emphysema, Congenital Lobar

Graphical network of the top 20 diseases related to Emphysema, Congenital Lobar:



Diseases related to Emphysema, Congenital Lobar

Symptoms & Phenotypes for Emphysema, Congenital Lobar

Human phenotypes related to Emphysema, Congenital Lobar:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emphysema 60 33 hallmark (90%) Very frequent (99-80%) HP:0002097
2 respiratory distress 60 33 hallmark (90%) Very frequent (99-80%) HP:0002098
3 abnormality of immune system physiology 60 33 frequent (33%) Frequent (79-30%) HP:0010978
4 bronchial cartilage hypoplasia 33 HP:0006539

Symptoms via clinical synopsis from OMIM:

58
Pulmonary:
respiratory distress in infancy
hyperinflated lobe of lung
compressed normal lung tissue
bronchial cartilage hypoplasia

Clinical features from OMIM:

130710

Drugs & Therapeutics for Emphysema, Congenital Lobar

Drugs for Emphysema, Congenital Lobar (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Protein C Approved Phase 2
2
Serine Approved, Nutraceutical Phase 2 56-45-1 5951
3 Trypsin Inhibitors Phase 2
4 Serine Proteinase Inhibitors Phase 2
5 Protein C Inhibitor Phase 2
6
protease inhibitors Phase 2
7 Alpha 1-Antitrypsin Phase 2
8 HIV Protease Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Alpha-1-Antitrypsin (AAT) To Treat Emphysema In AAT-Deficient Patients (EXACTLE) Completed NCT00263887 Phase 2 Alpha1-Proteinase Inhibitor (Human);Albumin (Human) 20%, United States Pharmacopeia (USP)

Search NIH Clinical Center for Emphysema, Congenital Lobar

Genetic Tests for Emphysema, Congenital Lobar

Genetic tests related to Emphysema, Congenital Lobar:

# Genetic test Affiliating Genes
1 Congenital Lobar Emphysema 30

Anatomical Context for Emphysema, Congenital Lobar

MalaCards organs/tissues related to Emphysema, Congenital Lobar:

42
Heart, Lung, Kidney, Fetal Lung, Bone, Bone Marrow

Publications for Emphysema, Congenital Lobar

Articles related to Emphysema, Congenital Lobar:

(show top 50) (show all 203)
# Title Authors Year
1
Current operative management of congenital lobar emphysema in children: A report from the Midwest Pediatric Surgery Consortium. ( 30898401 )
2019
2
Congenital lobar emphysema. ( 30804620 )
2019
3
Gene expression profiling reveals differential patterns between microcystic congenital cystic adenomatoid malformation and congenital lobar emphysema. ( 30583279 )
2018
4
Early sonographic manifestation of fetal congenital lobar emphysema. ( 30575052 )
2018
5
Congenital lobar emphysema. ( 29991847 )
2018
6
Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology? ( 28626595 )
2017
7
Congenital Lobar Emphysema: Anaesthetic Challenges and Review of Literature. ( 29207814 )
2017
8
Congenital Lobar Emphysema in Infants. ( 29090035 )
2017
9
Near Complete Obliteration of the Left Hemithorax by Congenital Lobar Emphysema in an Adult. ( 29054230 )
2017
10
An Unusual Presentation of Congenital Lobar Emphysema. ( 28523200 )
2017
11
Congenital lobar emphysema in a kitten. ( 28370059 )
2017
12
Bilateral congenital lobar emphysema: staged management. ( 28189445 )
2017
13
Congenital Lobar Emphysema with Pulmonary Extramedullary Hematopoiesis. ( 25652558 )
2017
14
Mediastinal bronchogenic cyst mimicking congenital lobar emphysema. ( 27609589 )
2016
15
Congenital lobar emphysema concurrent with pneumothorax and pneumomediastinum in a dog. ( 26860354 )
2016
16
Congenital Lobar Emphysema: An Approach of Anesthetic Management. ( 27656534 )
2016
17
Congenital lobar emphysema: Pitfalls in diagnosis. ( 27625470 )
2016
18
Left Upper Lobectomy for Congenital Lobar Emphysema in a Low Weight Infant. ( 27597924 )
2016
19
Congenital lobar emphysema. A rare cause of hypertension. ( 27381542 )
2016
20
Congenital lobar emphysema: diagnostic and therapeutic challenges. ( 27335360 )
2016
21
Congenital Lobar Emphysema in an Adult. ( 27275927 )
2016
22
Congenital lobar emphysema: Pitfalls in diagnosis. ( 27185998 )
2016
23
Congenital lobar emphysema and tension emphysema. ( 26897442 )
2016
24
Congenital lobar emphysema. ( 26819171 )
2016
25
An Unusual Congenital Anomaly in Fanconi Aplastic Anemia: Congenital Lobar Emphysema. ( 27094981 )
2016
26
Congenital lobar emphysema presenting as an airway foreign body. ( 26490784 )
2015
27
Anesthetic Management in Children with Congenital Lobar Emphysema. ( 26324029 )
2015
28
Anesthetic management of congenital lobar emphysema in a neonate. ( 26265861 )
2015
29
Left Main Bronchial Stenosis Mimicking Congenital Lobar Emphysema in an 8-Month-Old Child. ( 26234880 )
2015
30
Congenital lobar emphysema: Intubation and ventilation strategies. ( 25983441 )
2015
31
Congenital lobar emphysema: A modified approach to anesthetic management. ( 25624651 )
2015
32
Pulmonary imaging abnormalities in an adult case of congenital lobar emphysema. ( 25926923 )
2015
33
Congenital lobar emphysema causing discrepancy between size and symptoms of ventricular septal defect. ( 24384794 )
2014
34
Miller-dieker syndrome associated with congenital lobar emphysema. ( 25032053 )
2014
35
Congenital lobar emphysema presenting at late childhood: A rare case report. ( 25125828 )
2014
36
Inadvertent chest tube insertion in congenital cystic adenomatoid malformation and congenital lobar emphysema-highlighting an important problem. ( 23986612 )
2013
37
Congenital lobar emphysema: 30-year case series in two university hospitals. ( 24068262 )
2013
38
A case of congenital lobar emphysema in the middle lobe. ( 24251258 )
2013
39
Congenital lobar emphysema in a Nigerian neonate: a rare cause of neonatal respiratory distress. ( 24579507 )
2013
40
Congenital lobar emphysema association with double superior vena cava and horseshoe kidney. ( 23176935 )
2012
41
Congenital lobar emphysema: the role of multislice computed tomography with virtual bronchoscopy in the differential diagnosis with bronchial foreign bodies. ( 22415707 )
2012
42
Asymptomatic congenital lobar emphysema in a young adult. ( 23037488 )
2012
43
Bilateral congenital lobar emphysema: A rare cause for respiratory distress in infancy. ( 23189104 )
2012
44
Congenital lobar emphysema and intercostal drainage tube insertion: the common fate of an uncommon disease. ( 23285462 )
2012
45
Congenital lobar emphysema: Challenges in diagnosis and ventilation. ( 25885618 )
2012
46
Intralobar pulmonary sequestration masquerading as congenital lobar emphysema. ( 21430842 )
2011
47
Not all infantile respiratory distress in winter is bronchiolitis: congenital lobar emphysema. ( 22675056 )
2011
48
Imaging diagnosis--Congenital lobar emphysema in a dog. ( 21322391 )
2011
49
Congenital lobar emphysema in an adult. ( 21654992 )
2011
50
The diagnostic value of multislice computed tomography in children with congenital lobar emphysema. ( 21728729 )
2011

Variations for Emphysema, Congenital Lobar

Expression for Emphysema, Congenital Lobar

Search GEO for disease gene expression data for Emphysema, Congenital Lobar.

Pathways for Emphysema, Congenital Lobar

GO Terms for Emphysema, Congenital Lobar

Sources for Emphysema, Congenital Lobar

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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