CLE
MCID: EMP011
MIFTS: 33

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 56 52
Congenital Lobar Emphysema 74 52 58 29
Cle 56 74 52
Congenital Lobar Hyperinflation 58
Infantile Lobar Hyperinflation 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal dominant


HPO:

31
emphysema, congenital lobar:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 130710
MESH via Orphanet 44 C535735
ICD10 via Orphanet 33 Q33.8
UMLS via Orphanet 72 C0265797
Orphanet 58 ORPHA1928
MedGen 41 C0265797

Summaries for Emphysema, Congenital Lobar

NIH Rare Diseases : 52 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 cutaneous lupus erythematosus and leukoencephalopathy with vanishing white matter. The drugs Sodium citrate and Caffeine have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and kidney, and related phenotypes are emphysema and respiratory distress

Wikipedia : 74 Pneumatosis, also known as emphysema, is the abnormal presence of air or other gas within... more...

More information from OMIM: 130710

Related Diseases for Emphysema, Congenital Lobar

Diseases related to Emphysema, Congenital Lobar via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 cutaneous lupus erythematosus 12.1
2 leukoencephalopathy with vanishing white matter 11.5
3 lupus erythematosus tumidus 11.3
4 lupus erythematosus 10.5
5 cyanosis, transient neonatal 10.4
6 lung disease 10.3
7 pulmonary emphysema 10.3
8 bronchomalacia 10.2
9 respiratory failure 10.2
10 ventricular septal defect 10.2
11 heart septal defect 10.2
12 pemphigus vulgaris, familial 10.2
13 dermatomyositis 10.2
14 ichthyosis 10.2
15 bullous pemphigoid 10.2
16 herpes zoster 10.2
17 pemphigus 10.2
18 47,xyy 10.2
19 bronchopulmonary dysplasia 10.2
20 pectus excavatum 10.2
21 tetralogy of fallot 10.2
22 cystic disease of lung 10.2
23 heart disease 10.2
24 bronchogenic cyst 10.2
25 autoimmune disease 10.1
26 retinal detachment 10.1
27 ichthyosis, congenital, autosomal recessive 4b 10.1
28 helicobacter pylori infection 10.1
29 joint laxity, short stature, and myopia 10.1
30 exanthem 10.1
31 myopia 10.1
32 esophagitis 10.1
33 peptic esophagitis 10.1
34 macular retinal edema 10.1
35 refractive error 10.1
36 congenital extrahepatic portosystemic shunt 10.1
37 pneumothorax, primary spontaneous 10.0
38 supravalvular aortic stenosis 10.0
39 williams-beuren syndrome 10.0
40 miller-dieker lissencephaly syndrome 10.0
41 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.0
42 pleuropulmonary blastoma 10.0
43 patent ductus arteriosus 1 10.0
44 niemann-pick disease, type b 10.0
45 aplastic anemia 10.0
46 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
47 deficiency anemia 10.0
48 pulmonary hypertension 10.0
49 aspiration pneumonia 10.0
50 lissencephaly 10.0

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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emphysema 58 31 hallmark (90%) Very frequent (99-80%) HP:0002097
2 respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002098
3 abnormality of immune system physiology 58 31 frequent (33%) Frequent (79-30%) HP:0010978
4 bronchial cartilage hypoplasia 31 HP:0006539

Symptoms via clinical synopsis from OMIM:

56
Pulmonary:
bronchial cartilage hypoplasia
respiratory distress in infancy
hyperinflated lobe of lung
compressed normal lung tissue

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
Sodium citrate Approved, Investigational 68-04-2
2
Caffeine Approved 58-08-2 2519
3
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
4 Neurotransmitter Agents
5 Citrate
6 Phosphodiesterase Inhibitors
7 Central Nervous System Stimulants
8 Caffeine citrate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Discovering Laryngomalacia Completed NCT01165489
2 Caffeine Citrate for the Treatment of Apnea Associated With Bronchiolitis in Young Infants: A Randomized, Double Blind, Controlled Trial (RCT) Completed NCT01435486 Caffeine citrate;Normal saline

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 29

Anatomical Context for Emphysema, Congenital Lobar

MalaCards organs/tissues related to Emphysema, Congenital Lobar:

40
Lung, Heart, Kidney, Fetal Lung, Skin

Publications for Emphysema, Congenital Lobar

Articles related to Emphysema, Congenital Lobar:

(show top 50) (show all 405)
# Title Authors PMID Year
1
Congenital lobar emphysema in a mother and daughter. 61 56
7088614 1982
2
Iatrogenic pneumothorax in a 4-week-old girl: new diagnosis of congenital lobar emphysema. 61
32086328 2020
3
A clinical guideline for structured assessment of CT-imaging in congenital lung abnormalities. 61
32178987 2020
4
[Clinical analysis of 96 cases of congenital cystic lung lesions in children]. 61
31905471 2020
5
Airway anomalies in cases of anomalous pulmonary venous connection - A single-center experience. 61
31929241 2020
6
Congenital lobar emphysema: Thoracotomy versus minimally invasive surgery. 61
32002043 2020
7
Outcomes of Cases of Prenatally-Diagnosed Congenital Pulmonary Airway Malformation. 61
31745958 2019
8
Type I pleuropulmonary blastoma presenting as congenital pulmonary airway malformation: A report of two cases. 61
31611448 2019
9
Clinical presentation and outcome in congenital pulmonary malformation: 25 year retrospective study in Thailand. 61
31264305 2019
10
Developmental lung anomalies in adults: A pictorial review. 61
31326738 2019
11
Concurrent pulmonary hypoplasia and congenital lobar emphysema in a young dog with tension pneumothorax: a rare congenital pulmonary anomaly. 61
31349870 2019
12
Variability of presentation and surgical approach in Congenital Cystic Lesions of Lung: A retrospective study in children presenting in Mayo Hospital. 61
31983742 2019
13
Current operative management of congenital lobar emphysema in children: A report from the Midwest Pediatric Surgery Consortium. 61
30898401 2019
14
Early sonographic manifestation of fetal congenital lobar emphysema. 61
30575052 2019
15
Congenital Lung Malformations. 61
30986318 2019
16
Congenital lobar emphysema. 61
30804620 2019
17
Congenital lobar emphysema: diagnosis and treatment options. 61
31118601 2019
18
Gene expression profiling reveals differential patterns between microcystic congenital cystic adenomatoid malformation and congenital lobar emphysema. 61
30583279 2019
19
Congenital lobar emphysema. 61
29991847 2018
20
Persistent respiratory distress in a neonate: a diagnostic dilemma. 61
29666078 2018
21
Perioperative Complications of Video-Assisted Thoracoscopic Pulmonary Procedures in Neonates and Infants. 61
29510429 2018
22
Conservative post-natal management of antenatally diagnosed congenital pulmonary airway malformations. 61
28960660 2018
23
Near Complete Obliteration of the Left Hemithorax by Congenital Lobar Emphysema in an Adult. 61
29054230 2017
24
Congenital lobar emphysema in a kitten. 61
28370059 2017
25
Long-term outcomes of congenital lung malformations. 61
29110827 2017
26
Pulmonary interstitial glycogenosis associated with a spectrum of neonatal pulmonary disorders. 61
28873355 2017
27
Congenital Lobar Emphysema: Anaesthetic Challenges and Review of Literature. 61
29207814 2017
28
Bilateral congenital lobar emphysema: staged management. 61
28189445 2017
29
Congenital Lobar Emphysema in Infants. 61
29090035 2017
30
Rigid Bronchoscopic Placement of Fogarty Catheter as a Bronchial Blocker for One Lung Isolation and Ventilation in Infants and Children Undergoing Thoracic Surgery: A Single Institution Experience of 27 Cases. 61
28607884 2017
31
Congenital Lobar Emphysema with Pulmonary Extramedullary Hematopoiesis. 61
25652558 2017
32
An Unusual Presentation of Congenital Lobar Emphysema. 61
28523200 2017
33
Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology? 61
28626595 2017
34
An 18-year-old man with recurrent pneumothorax since he was 10-year-old. 61
27257988 2016
35
Congenital Lung Malformations: Shifting from Open to Thoracoscopic Surgery. 61
27036100 2016
36
An Unusual Congenital Anomaly in Fanconi Aplastic Anemia: Congenital Lobar Emphysema. 61
27094981 2016
37
Congenital lobar emphysema: Pitfalls in diagnosis. 61
27625470 2016
38
Mediastinal bronchogenic cyst mimicking congenital lobar emphysema. 61
27609589 2016
39
[Congenital lobar emphysema and pulmonary valve agenesis]. 61
26598446 2016
40
Congenital Lobar Emphysema in an Adult. 61
27275927 2016
41
Congenital Lobar Emphysema: An Approach of Anesthetic Management. 61
27656534 2016
42
Congenital lobar emphysema. A rare cause of hypertension. 61
27381542 2016
43
Imaging of congenital pulmonary malformations. 61
27467867 2016
44
Congenital lobar emphysema: diagnostic and therapeutic challenges. 61
27335360 2016
45
Congenital lobar emphysema concurrent with pneumothorax and pneumomediastinum in a dog. 61
26860354 2016
46
Congenital lobar emphysema: Pitfalls in diagnosis. 61
27185998 2016
47
Congenital lobar emphysema and tension emphysema. 61
26897442 2016
48
Congenital lobar emphysema. 61
26819171 2016
49
Left Upper Lobectomy for Congenital Lobar Emphysema in a Low Weight Infant. 61
27597924 2016
50
[Giant congenital compressive segmental emphysema: diagnosis and treatment]. 61
27303589 2016

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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