MCID: CHY005
MIFTS: 42

Chylothorax, Congenital

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Chylothorax, Congenital

MalaCards integrated aliases for Chylothorax, Congenital:

Name: Chylothorax, Congenital 57 53 55 73
Congenital Chylothorax 12 59 15
Hydrothorax, Congenital 57

Characteristics:

Orphanet epidemiological data:

59
congenital chylothorax
Inheritance: Not applicable; Prevalence: 1-9/100000 (Germany); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

OMIM 57 603523
Disease Ontology 12 DOID:0060646
Orphanet 59 ORPHA264688
ICD10 via Orphanet 34 I89.8
UMLS via Orphanet 74 C0340014
MedGen 42 C0340014
UMLS 73 C0340014

Summaries for Chylothorax, Congenital

Disease Ontology : 12 A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life.

MalaCards based summary : Chylothorax, Congenital, also known as congenital chylothorax, is related to hennekam syndrome and congenital lymphedema. An important gene associated with Chylothorax, Congenital is SST (Somatostatin), and among its related pathways/superpathways are Integrin Pathway and PI3K-Akt signaling pathway. Affiliated tissues include lymph node, heart and testes, and related phenotypes are homeostasis/metabolism and growth/size/body region

Description from OMIM: 603523

Related Diseases for Chylothorax, Congenital

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 hennekam syndrome 29.6 ALB FLT4
2 congenital lymphedema 10.1 FLT4 FOXC2
3 lymphedema 10.1 FLT4 FOXC2
4 hydrops fetalis, nonimmune, and/or atrial septal defect 10.1
5 fetal edema 10.1
6 hydrops fetalis 10.1
7 hereditary lymphedema 10.1 FLT4 FOXC2
8 cortical thymoma 10.1 SST VCAM1
9 hydrocele 10.1 FLT4 ITGB1
10 esophageal varix 10.1 ALB SST
11 klippel-trenaunay-weber syndrome 10.0 FLT4 FOXC2 SST
12 hepatic vascular disease 10.0 ALB SST
13 noonan syndrome 1 10.0
14 pseudo-turner syndrome 10.0
15 venous malformations, multiple cutaneous and mucosal 10.0 FLT4 FOXC2
16 vein disease 10.0 ALB SST
17 tricuspid valve insufficiency 10.0 ALB PTPN11
18 noma 10.0 ALB PTPN11
19 yellow nail syndrome 10.0 ALB FOXC2 SST
20 lymphangiectasia, pulmonary, congenital 9.9
21 pulmonary hypertension 9.9
22 hypothyroidism 9.9
23 lymphatic system disease 9.9 FLT4 FOXC2
24 dengue disease 9.9 PTPN11 VCAM1
25 pleural disease 9.8 ALB SPP1
26 down syndrome 9.8
27 hydrops fetalis, nonimmune 9.8
28 neuroblastoma 9.8
29 hemolytic anemia 9.8
30 opitz-gbbb syndrome 9.8
31 hemopericardium 9.8
32 pericardial effusion 9.8
33 neonatal thyrotoxicosis 9.8
34 lymphopenia 9.8
35 polyhydramnios 9.8
36 vasculitis 9.8
37 chromosomal triplication 9.8
38 coloboma of iris 9.8
39 lymphangiectasis 9.8
40 immune hydrops fetalis 9.8
41 diabetes mellitus, noninsulin-dependent 9.7 ALB FOXC2 SST VCAM1
42 chronic kidney failure 9.7 ALB SPP1 VCAM1
43 dilated cardiomyopathy 9.4 ALB ITGB1 SPP1 VCAM1

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



Diseases related to Chylothorax, Congenital

Symptoms & Phenotypes for Chylothorax, Congenital

Clinical features from OMIM:

603523

MGI Mouse Phenotypes related to Chylothorax, Congenital:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.18 ALB FLT4 FOXC2 ITGA9 ITGB1 MTM1
2 growth/size/body region MP:0005378 10.15 FLT4 FOXC2 ITGA9 ITGB1 MTM1 PTPN11
3 cardiovascular system MP:0005385 10.13 FLT4 FOXC2 ITGA9 ITGB1 MTM1 PTPN11
4 mortality/aging MP:0010768 10.1 ALB FLT4 FOXC2 ITGA9 ITGB1 MTM1
5 immune system MP:0005387 10.06 FLT4 FOXC2 ITGA9 ITGB1 PTPN11 SPP1
6 digestive/alimentary MP:0005381 9.99 ALB FLT4 FOXC2 ITGB1 PTPN11 SST
7 liver/biliary system MP:0005370 9.98 ALB FLT4 FOXC2 ITGB1 MTM1 PTPN11
8 muscle MP:0005369 9.91 ALB FLT4 FOXC2 ITGB1 MTM1 PTPN11
9 normal MP:0002873 9.91 ALB FLT4 FOXC2 ITGA9 ITGB1 MTM1
10 no phenotypic analysis MP:0003012 9.87 FLT4 FOXC2 ITGA9 MTM1 PTPN11 SST
11 reproductive system MP:0005389 9.63 FLT4 ITGB1 MTM1 PTPN11 SPP1 VCAM1
12 respiratory system MP:0005388 9.43 FOXC2 ITGA9 ITGB1 MTM1 PTPN11 SPP1
13 skeleton MP:0005390 9.1 FOXC2 ITGB1 MTM1 PTPN11 SPP1 SST

Drugs & Therapeutics for Chylothorax, Congenital

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Measurement of Hormonal Concentration in Chylothorax Fluid in Infants With Congenital Chylothorax Unknown status NCT00267345

Search NIH Clinical Center for Chylothorax, Congenital

Genetic Tests for Chylothorax, Congenital

Anatomical Context for Chylothorax, Congenital

MalaCards organs/tissues related to Chylothorax, Congenital:

41
Lymph Node, Heart, Testes, Kidney, Pancreas

Publications for Chylothorax, Congenital

Articles related to Chylothorax, Congenital:

(show top 50) (show all 106)
# Title Authors Year
1
Prenatal factors associated with neonatal survival of infants with congenital chylothorax. ( 29048403 )
2018
2
Ultrasonographic confirmation of tracheal intubation for congenital chylothorax. ( 29480539 )
2018
3
Successful management of extremely high-output refractory congenital chylothorax with chemical pleurodesis using 4% povidone-iodine and propranolol: a case report. ( 29636944 )
2018
4
Fetal intervention for congenital chylothorax is associated with improved outcomes in early life. ( 30278954 )
2018
5
Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. ( 28363362 )
2017
6
Congenital chylothorax. ( 28351595 )
2017
7
Successful treatment of familial congenital chylothorax by ligation of the thoracic duct: A case report. ( 28393010 )
2017
8
Effects of somatostatin/octreotide treatment in neonates with congenital chylothorax. ( 28723800 )
2017
9
Treatment of fetal congenital chylothorax: Report of eight cases at a mainland Chinese medical center. ( 29241937 )
2017
10
Life-Threatening Hemolytic Anemia after Intrapleural Instillation of OK-432 for Treatment of Congenital Chylothorax. ( 27487035 )
2016
11
Congenital Chylothorax: A Unique Presentation of Nonimmune Hydrops Fetalis in a Preterm Infant. ( 26945279 )
2016
12
[Role of lymphatic scintigraphy and surgery in congenital chylothorax]. ( 28154676 )
2016
13
Prenatal Therapy Improves the Survival of Premature Infants with Congenital Chylothorax. ( 26315047 )
2016
14
Povidone-iodine pleurodesis for congenital chylothorax of the newborn. ( 26419497 )
2016
15
Congenital Chylothorax: Antenatal Intervention, Survival, and Outcome. ( 26976494 )
2016
16
Treatment of persistent congenital chylothorax with intrapleural injection of sapylin in infants. ( 27882042 )
2016
17
Chemical Pleurodesis with Oxytetracycline in Congenital Chylothorax. ( 28064267 )
2016
18
Povidone Iodine Pleurodesis for Refractory Congenital Chylothorax: A Review of Literature. ( 28994881 )
2016
19
Congenital Chylothorax of the Newborn: Diagnosis and Treatment in Three Pictures. ( 29906078 )
2016
20
Congenital chylothorax: a prospective nationwide epidemiological study in Germany. ( 25480460 )
2015
21
Congenital chylothorax treated with oral sildenafil: a case report and review of the literature. ( 25917021 )
2015
22
Thoracoscopic pleural clipping for the management of congenital chylothorax. ( 26276425 )
2015
23
Low Dose of Octreotide Can be Helpful in the Management of Congenital Chylothorax. ( 26568847 )
2015
24
Congenital chylothorax in newborn with trisomy 21. ( 25541830 )
2014
25
An idiopathic congenital chylothorax: surgery or conservative management? ( 24788632 )
2014
26
Congenital chylothorax: associations and neonatal outcomes. ( 24372911 )
2014
27
Chemical pleurodesis using a Viscum album extract in infants with congenital chylothorax. ( 24573572 )
2014
28
Skimmed milk preparation in management of congenital chylothorax. ( 24632698 )
2014
29
Congenital chylothorax and pulmonary hypertension complicated with heart failure and hepatopathy. ( 23679184 )
2013
30
Treatment of congenital chylothorax with octreotide in a hydropic preterm infant. ( 23925288 )
2013
31
Is octreotide treatment useful in patients with congenital chylothorax? ( 22076538 )
2012
32
Ventilation mode and outcome of premature infants with congenital chylothorax. ( 22185327 )
2012
33
Long-term follow-up of children with congenital chylothorax. ( 23024332 )
2012
34
Five cases of congenital chylothorax treated by intrapleural minocycline. ( 23946900 )
2012
35
Congenital chylothorax in a late preterm infant and successful treatment with octreotide. ( 22036228 )
2011
36
Congenital chylothorax--successful management with chemical pleurodesis. ( 20140768 )
2010
37
Octreotid as a treatment of congenital chylothorax. ( 20503291 )
2010
38
Congenital chylothorax: from foetal life to adolescence. ( 20528795 )
2010
39
Surgical management of congenital chylothorax in children. ( 20577953 )
2010
40
Idiopathic congenital chylothorax treated with octreotide. ( 22750919 )
2010
41
[Congenital chylothorax and hypothyroidism: a case report and a review of the literature]. ( 19683420 )
2009
42
Unusual case of congenital chylothorax. ( 19280501 )
2009
43
Treatment with OK-432 for persistent congenital chylothorax in newborn infants resistant to octreotide. ( 19302843 )
2009
44
Successful treatment of congenital chylothorax using fibrin glue. ( 19381502 )
2009
45
Congenital chylothorax. ( 19526181 )
2009
46
Congenital chylothorax: clinical course and prognostic significance. ( 19598277 )
2009
47
Idiopathic congenital chylothorax presented with severe hydrops and treated with octreotide in term newborn. ( 19916717 )
2009
48
Intrathoracic pressure in congenital chylothorax: keystone for the rationale of thoracoamniotic shunting? ( 17228151 )
2007
49
Ebstein's anomaly with severe hypoplastic and stenotic pulmonary venous connections: an unusual cause of congenital chylothorax. ( 17932998 )
2007
50
Report of three cases: congenital chylothorax and treatment modalities. ( 18246745 )
2007

Variations for Chylothorax, Congenital

Expression for Chylothorax, Congenital

Search GEO for disease gene expression data for Chylothorax, Congenital.

Pathways for Chylothorax, Congenital

Pathways related to Chylothorax, Congenital according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 ITGA9 ITGB1 SPOCK1 SPP1 VCAM1
2
Show member pathways
12.67 FLT4 ITGA9 ITGB1 SPP1
3
Show member pathways
12.61 FLT4 ITGA9 ITGB1 SPOCK1 SPP1
4
Show member pathways
12.58 FLT4 ITGA9 ITGB1 SPP1
5
Show member pathways
12.39 ITGA9 ITGB1 SPP1 VCAM1
6
Show member pathways
11.91 FLT4 ITGA9 ITGB1
7 11.83 FLT4 ITGA9 ITGB1
8
Show member pathways
11.76 ITGA9 ITGB1 SPOCK1 SPP1 VCAM1
9 11.74 ITGA9 ITGB1 VCAM1
10 11.67 ALB ITGB1 VCAM1
11 11.26 PTPN11 SPP1
12 11.24 FOXC2 PTPN11
13 11.23 PTPN11 SPP1
14
Show member pathways
11.18 ITGB1 VCAM1
15
Show member pathways
11.1 ITGA9 ITGB1 SPP1 VCAM1
16 10.84 FLT4 ITGB1
17 10.78 ITGA9 ITGB1
18 10.78 ITGB1 PTPN11 VCAM1
19 10.46 FLT4 ITGA9 ITGB1 SPOCK1 SPP1

GO Terms for Chylothorax, Congenital

Cellular components related to Chylothorax, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin complex GO:0008305 8.96 ITGA9 ITGB1
2 filopodium GO:0030175 8.8 ITGB1 MTM1 VCAM1

Biological processes related to Chylothorax, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.46 FLT4 VCAM1
2 response to steroid hormone GO:0048545 9.43 SPP1 SST
3 leukocyte cell-cell adhesion GO:0007159 9.4 ITGB1 VCAM1
4 leukocyte tethering or rolling GO:0050901 9.37 ITGB1 VCAM1
5 cell adhesion GO:0007155 9.35 ITGA9 ITGB1 SPOCK1 SPP1 VCAM1
6 integrin-mediated signaling pathway GO:0007229 9.33 ITGA9 ITGB1 PTPN11
7 lymph vessel development GO:0001945 9.32 FLT4 FOXC2
8 lymphangiogenesis GO:0001946 9.26 FLT4 FOXC2
9 extracellular matrix organization GO:0030198 8.92 ITGA9 ITGB1 SPP1 VCAM1

Molecular functions related to Chylothorax, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 9.16 SPOCK1 SPP1
2 laminin binding GO:0043236 8.96 ITGA9 ITGB1
3 cell adhesion molecule binding GO:0050839 8.8 ITGB1 PTPN11 VCAM1

Sources for Chylothorax, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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