MCID: CYS044
MIFTS: 28

Cystic Disease of Lung

Categories: Respiratory diseases

Aliases & Classifications for Cystic Disease of Lung

MalaCards integrated aliases for Cystic Disease of Lung:

Name: Cystic Disease of Lung 56 71
Cystic Lung Disease 29
Lung Cyst 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cystic disease of lung:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 219600
MedGen 41 C1384901
SNOMED-CT via HPO 68 258211005
UMLS 71 C0546483 C1384901

Summaries for Cystic Disease of Lung

MalaCards based summary : Cystic Disease of Lung, also known as cystic lung disease, is related to lymphangioleiomyomatosis and lung disease, and has symptoms including hemoptysis The drugs Sirolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include lung, liver and skin, and related phenotypes are recurrent infections and spontaneous neonatal pneumothorax

More information from OMIM: 219600

Related Diseases for Cystic Disease of Lung

Diseases related to Cystic Disease of Lung via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 lymphangioleiomyomatosis 11.5
2 lung disease 10.8
3 histiocytosis 10.5
4 langerhans cell histiocytosis 10.5
5 pneumothorax 10.3
6 bronchiolitis 10.3
7 amyloidosis 10.2
8 bronchiectasis 10.2
9 pneumothorax, primary spontaneous 10.2
10 emphysema, congenital lobar 10.2
11 respiratory failure 10.2
12 interstitial lung disease 10.2
13 light chain deposition disease 10.1
14 pulmonary sequestration 10.1
15 lymphoid interstitial pneumonia 10.1
16 tuberous sclerosis 10.1
17 bronchogenic cyst 10.1
18 sarcoidosis 1 10.0
19 tuberous sclerosis 1 10.0
20 interstitial pneumonitis, desquamative, familial 10.0
21 embryoma 10.0
22 birt-hogg-dube syndrome 9.9
23 neurofibromatosis, type iv, of riccardi 9.9
24 down syndrome 9.9
25 pleuropulmonary blastoma 9.9
26 pulmonary hypertension 9.9
27 cystic adenomatoid malformation of lung 9.9
28 virus-associated trichodysplasia spinulosa 9.9
29 sturge-weber syndrome 9.8
30 weber syndrome 9.8
31 fibrosis of extraocular muscles, congenital, 1 9.7
32 lymphoma, mucosa-associated lymphoid type 9.7
33 diaphragmatic hernia, congenital 9.7
34 yellow nail syndrome 9.7
35 scleroderma, familial progressive 9.7
36 moyamoya disease 1 9.7
37 myeloma, multiple 9.7
38 pancreatic cancer 9.7
39 pierre robin syndrome 9.7
40 sjogren syndrome 9.7
41 wilms tumor 5 9.7
42 patent ductus arteriosus 1 9.7
43 multisystemic smooth muscle dysfunction syndrome 9.7
44 moyamoya disease 5 9.7
45 angiosarcoma 9.7
46 colorectal adenocarcinoma 9.7
47 lung abscess 9.7
48 lymphoproliferative syndrome 9.7
49 nodal marginal zone lymphoma 9.7
50 polycystic kidney disease 9.7

Graphical network of the top 20 diseases related to Cystic Disease of Lung:



Diseases related to Cystic Disease of Lung

Symptoms & Phenotypes for Cystic Disease of Lung

Human phenotypes related to Cystic Disease of Lung:

31
# Description HPO Frequency HPO Source Accession
1 recurrent infections 31 HP:0002719
2 spontaneous neonatal pneumothorax 31 HP:0004876
3 multiple pulmonary cysts 31 HP:0005948

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
spontaneous neonatal pneumothorax
recurrent infection
cystic lung disease

Clinical features from OMIM:

219600

UMLS symptoms related to Cystic Disease of Lung:


hemoptysis

Drugs & Therapeutics for Cystic Disease of Lung

Drugs for Cystic Disease of Lung (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
2
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
3
Everolimus Approved Phase 3 159351-69-6 6442177 70789204
4 Immunosuppressive Agents Phase 3
5 Anti-Infective Agents Phase 3
6 Immunologic Factors Phase 3
7 Antibiotics, Antitubercular Phase 3
8 Antifungal Agents Phase 3
9 Anti-Bacterial Agents Phase 3
10
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414
11
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
12
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
13 Gastrointestinal Agents Phase 2
14 Antineoplastic Agents, Hormonal Phase 2
15 Estrogens Phase 2
16 Steroid Synthesis Inhibitors Phase 2
17 Hormone Antagonists Phase 2
18 Estrogen Receptor Antagonists Phase 2
19 Estrogen Antagonists Phase 2
20 Aromatase Inhibitors Phase 2
21 Hormones Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Lymphangioleiomyomatosis Efficacy and Safety Trial Unknown status NCT00414648 Phase 3 Sirolimus;Placebo sirolimus
2 Treatment With Octreotide in Patients With Lymphangioleiomyomatosis Completed NCT00005906 Phase 2 Octreotide
3 A TRIAL OF LETROZOLE IN PULMONARY LYMPHANGIOLEIOMYOMATOSIS Completed NCT01353209 Phase 2 Letrozole;Placebo
4 Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations Unknown status NCT01732185
5 Radiotherapeutic Tumor Response and Normal Tissue Effect in Treating Thoracic Malignancy : as Comparing With Free-breathing Non-gating Methods. Unknown status NCT02063633
6 Cost-consequence Analysis of Parenchymal Stapling Device Versus Hand-sewing for Pulmonary Lobectomy in Lung Disease: A Randomized Controlled Trial Completed NCT01575314

Search NIH Clinical Center for Cystic Disease of Lung

Genetic Tests for Cystic Disease of Lung

Genetic tests related to Cystic Disease of Lung:

# Genetic test Affiliating Genes
1 Cystic Lung Disease 29

Anatomical Context for Cystic Disease of Lung

MalaCards organs/tissues related to Cystic Disease of Lung:

40
Lung, Liver, Skin, Fetal Lung, Heart, Colon

Publications for Cystic Disease of Lung

Articles related to Cystic Disease of Lung:

(show top 50) (show all 196)
# Title Authors PMID Year
1
THE RELATIONSHIP OF ETHNIC ORIGIN TO THE PREVALENCE OF CYSTIC LUNG DISEASE IN ISRAEL. A PRELIMINARY REPORT. 56
14263933 1965
2
Bronchiectasis in the Maori. 56
13590516 1958
3
Giant Hydatid Lung Cyst. 61
31599515 2019
4
Loss of FLCN inhibits canonical WNT signaling via TFE3. 61
31272105 2019
5
Effects of sirolimus in lymphangioleiomyomatosis patients on lung cysts and pulmonary function: long-term follow-up observational study. 61
31471750 2019
6
Giant lung cysts following necrotizing pneumonia: Resolution with conservative treatment. 61
30897292 2019
7
Pleomorphic carcinoma of the lung: from thin-walled cavity to solid tumor. 61
31355240 2019
8
[A Case of Renal Oncocytosis with Bilateral Multiple Renal Masses]. 61
31247688 2019
9
Mutiple DICER1-related lesions associated with a germline deep intronic mutation. 61
29469200 2018
10
Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. 61
29315962 2018
11
[CLINICAL AND EPIDEMIOLOGICAL PECULIARITIES OF CYSTIC ECHINOCOCCOSIS IN CHILDREN]. 61
28574387 2017
12
Multi-sited hydatid cystic disease with muscular involvement in a young female: A case report from Syria. 61
28448863 2017
13
[RED HERRING COMPLAINTS IN AN EIGHTEEN YEARS OLD FEMALE WITH A HYDATID CYST OF THE LUNG]. 61
28530073 2016
14
Haploinsufficiency of the folliculin gene leads to impaired functions of lung fibroblasts in patients with Birt-Hogg-Dubé syndrome. 61
27905298 2016
15
[A Case of Birt-Hogg-Dubé Syndrome, Lung Cyst was Reduced by Inhalation of a Long-acting Anticholinergic Agent]. 61
30178962 2016
16
Birt-Hogg-Dubé Syndrome. 61
27514594 2016
17
[Endobronchial Ultrasound Guided Needle Aspiration of a Lung Cyst and Eosinophilic Pneumonia]. 61
27512929 2016
18
[Congenital Defect of the Left Pericardium with Spontaneous Pneumothorax;Report of a Case]. 61
27476572 2016
19
Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature. 61
27488391 2016
20
Asymptomatic man with a large lung cyst. 61
27051121 2016
21
Clinical Features of Congenital Cystic Lung Diseases: A Report on a Nationwide Multicenter Study in Japan. 61
26506301 2016
22
Novel mechanism for lung cyst formation. 61
26733435 2016
23
Acquired Lung Cyst in a Newborn Baby with Cytomegalovirus Infection. 61
26615361 2015
24
Promoter methylation is not associated with FLCN irregulation in lung cyst lesions of primary spontaneous pneumothorax. 61
26398834 2015
25
Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome. 61
26698637 2015
26
[Surgically Treated Clear Cell Carcinoma of the Lung; Report of a Case]. 61
26469265 2015
27
Multi-vesicular pulmonary hydatid cyst, the potent underestimated factor in the formation of daughter cysts of pulmonary hydatid disease. 61
26180389 2015
28
Asymptomatic Pulmonary Venous Aneurysm Within Lung Cyst. 61
26140786 2015
29
Analysis of twenty pediatric cases of tuberous sclerosis complex: are we doing enough? 61
25566892 2015
30
Congenital cystic lesions of lung in the paediatric population: A 5-year single institutional study with review of literature. 61
25659554 2015
31
No association between Birt-Hogg-Dubé syndrome skin fibrofolliculomas and the first 10 described human polyomaviruses or human papillomaviruses. 61
25194921 2014
32
[Successful intrauterine therapy in a fetus with a large lung cyst in the third trimester of pregnancy--case report]. 61
25675806 2014
33
Efficacy of caspofungin, a 1,3-β-D-glucan synthase inhibitor, on Pneumocystis carinii pneumonia in rats. 61
25288652 2014
34
Epidemiological study of hydatidosis in the dromedaries (Camelus dromedarius) of different regions of Iran. 61
25183070 2014
35
Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK. 61
24726356 2014
36
Raw-data-based iterative reconstruction versus filtered back projection: image quality of low-dose chest computed tomography examinations in 87 patients. 61
23916244 2013
37
Simultaneous heart and bilateral lung hydatid cyst operated in a single session. 61
23265691 2013
38
Intravenous versus inhalation anaesthesia for one-lung ventilation. 61
23846831 2013
39
Multiple cystic lung disease. 61
23579924 2013
40
An unusual case of pleuropulmonary blastoma in a child with jejunal hamartomas. 61
23970988 2013
41
Persistent pulmonary interstitial emphysema presenting as solitary lung cyst in a preterm infant. 61
23242093 2012
42
HLA class II DRB1 resistance and susceptible markers in hydatidosis Saudi patients in association to the clinical course and gender. 61
23469632 2012
43
Infantile pulmonary tuberculosis: the great mimic. 61
22526547 2012
44
Correlation between imaging features of Pneumocystis Jiroveci Pneumonitis (PCP), CD(4) (+) T lymphocyte count, and plasma HIV viral load: A study in 50 consecutive AIDS patients. 61
23256070 2012
45
Bilateral lung and liver hydatid cysts. Case report. 61
22958805 2012
46
Lung cyst caused by centrally located bronchogenic carcinoma. 61
21930334 2012
47
The diagnostic value of multislice computed tomography in children with congenital lobar emphysema. 61
21728729 2011
48
[Congenital multiple lung cyst of bronchial origin in a girl: differential diagnosis of pulmonary cavity]. 61
21575358 2011
49
Radical resection of pleuropulmonary blastoma. 61
27755807 2011
50
Cerebral arterial gas embolism with delayed treatment and a fatal outcome in a 14-year-old diver. 61
21560983 2011

Variations for Cystic Disease of Lung

Expression for Cystic Disease of Lung

Search GEO for disease gene expression data for Cystic Disease of Lung.

Pathways for Cystic Disease of Lung

GO Terms for Cystic Disease of Lung

Sources for Cystic Disease of Lung

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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