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 58 54 56 74
Congenital Chylothorax 12 60 15
Hydrothorax, Congenital 58

Characteristics:

Orphanet epidemiological data:

60
congenital chylothorax
Inheritance: Not applicable; Prevalence: 1-9/100000 (Germany); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:0060646
OMIM 58 603523
ICD10 via Orphanet 35 I89.8
UMLS via Orphanet 75 C0340014
Orphanet 60 ORPHA264688
MedGen 43 C0340014
UMLS 74 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 49)
# Related Disease Score Top Affiliating Genes
1 hennekam syndrome 29.6 ALB FLT4
2 congenital lymphedema 10.2 FLT4 FOXC2
3 lymphedema 10.2 FLT4 FOXC2
4 hereditary lymphedema 10.2 FLT4 FOXC2
5 cortical thymoma 10.2 SST VCAM1
6 lymphatic malformation 7 10.1
7 fetal edema 10.1
8 hydrops fetalis 10.1
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 chromosomal triplication 10.0
15 pseudo-turner syndrome 10.0
16 venous malformations, multiple cutaneous and mucosal 10.0 FLT4 FOXC2
17 vein disease 10.0 ALB SST
18 tricuspid valve insufficiency 10.0 ALB PTPN11
19 down syndrome 9.9
20 lymphangiectasia, pulmonary, congenital 9.9
21 pulmonary hypertension 9.9
22 hypothyroidism 9.9
23 lymphangiectasis 9.9
24 noma 9.9 ALB PTPN11
25 yellow nail syndrome 9.9 ALB FOXC2 SST
26 pulmonary sequestration 9.9
27 lymphatic system disease 9.8 FLT4 FOXC2
28 dengue disease 9.8 PTPN11 VCAM1
29 coloboma of macula 9.8
30 cornelia de lange syndrome 1 9.8
31 ascites, chylous 9.8
32 hydrops fetalis, nonimmune 9.8
33 graves disease 1 9.8
34 hemolytic anemia 9.8
35 opitz-gbbb syndrome 9.8
36 hemopericardium 9.8
37 cornelia de lange syndrome 9.8
38 pericardial effusion 9.8
39 neonatal thyrotoxicosis 9.8
40 lymphopenia 9.8
41 polyhydramnios 9.8
42 vasculitis 9.8
43 rere-related disorders 9.8
44 coloboma of iris 9.8
45 immune hydrops fetalis 9.8
46 pleural disease 9.7 ALB SPP1
47 diabetes mellitus, noninsulin-dependent 9.6 ALB FOXC2 SST VCAM1
48 chronic kidney failure 9.5 ALB SPP1 VCAM1
49 dilated cardiomyopathy 9.1 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:

47 (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:

42
Lymph Node, Heart, Testes, Kidney

Publications for Chylothorax, Congenital

Articles related to Chylothorax, Congenital:

(show top 50) (show all 109)
# Title Authors Year
1
Congenital Chylothorax in a Neonate with Cornelia de Lange Syndrome: A Rare Complication Managed with a Novel Indigenously Prepared Milk Formulation. ( 30879238 )
2019
2
Heparin in Congenital Chylothorax and Chylous Ascites. ( 31012049 )
2019
3
Prenatal factors associated with neonatal survival of infants with congenital chylothorax. ( 29048403 )
2018
4
Ultrasonographic confirmation of tracheal intubation for congenital chylothorax. ( 29480539 )
2018
5
Successful management of extremely high-output refractory congenital chylothorax with chemical pleurodesis using 4% povidone-iodine and propranolol: a case report. ( 29636944 )
2018
6
Fetal intervention for congenital chylothorax is associated with improved outcomes in early life. ( 30278954 )
2018
7
Successful treatment of congenital chylothorax with skimmed milk and long course octreotide. ( 30567162 )
2018
8
Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. ( 28363362 )
2017
9
Congenital chylothorax. ( 28351595 )
2017
10
Successful treatment of familial congenital chylothorax by ligation of the thoracic duct: A case report. ( 28393010 )
2017
11
Effects of somatostatin/octreotide treatment in neonates with congenital chylothorax. ( 28723800 )
2017
12
Treatment of fetal congenital chylothorax: Report of eight cases at a mainland Chinese medical center. ( 29241937 )
2017
13
Life-Threatening Hemolytic Anemia after Intrapleural Instillation of OK-432 for Treatment of Congenital Chylothorax. ( 27487035 )
2016
14
Congenital Chylothorax: A Unique Presentation of Nonimmune Hydrops Fetalis in a Preterm Infant. ( 26945279 )
2016
15
Prenatal Therapy Improves the Survival of Premature Infants with Congenital Chylothorax. ( 26315047 )
2016
16
Povidone-iodine pleurodesis for congenital chylothorax of the newborn. ( 26419497 )
2016
17
Congenital Chylothorax: Antenatal Intervention, Survival, and Outcome. ( 26976494 )
2016
18
Treatment of persistent congenital chylothorax with intrapleural injection of sapylin in infants. ( 27882042 )
2016
19
Chemical Pleurodesis with Oxytetracycline in Congenital Chylothorax. ( 28064267 )
2016
20
Povidone Iodine Pleurodesis for Refractory Congenital Chylothorax: A Review of Literature. ( 28994881 )
2016
21
Congenital Chylothorax of the Newborn: Diagnosis and Treatment in Three Pictures. ( 29906078 )
2016
22
[Role of lymphatic scintigraphy and surgery in congenital chylothorax]. ( 28154676 )
2016
23
Congenital chylothorax: a prospective nationwide epidemiological study in Germany. ( 25480460 )
2015
24
Congenital chylothorax treated with oral sildenafil: a case report and review of the literature. ( 25917021 )
2015
25
Thoracoscopic pleural clipping for the management of congenital chylothorax. ( 26276425 )
2015
26
Low Dose of Octreotide Can be Helpful in the Management of Congenital Chylothorax. ( 26568847 )
2015
27
Congenital chylothorax in newborn with trisomy 21. ( 25541830 )
2014
28
Congenital chylothorax: associations and neonatal outcomes. ( 24372911 )
2014
29
Chemical pleurodesis using a Viscum album extract in infants with congenital chylothorax. ( 24573572 )
2014
30
Skimmed milk preparation in management of congenital chylothorax. ( 24632698 )
2014
31
An idiopathic congenital chylothorax: surgery or conservative management? ( 24788632 )
2014
32
Congenital chylothorax and pulmonary hypertension complicated with heart failure and hepatopathy. ( 23679184 )
2013
33
Treatment of congenital chylothorax with octreotide in a hydropic preterm infant. ( 23925288 )
2013
34
Is octreotide treatment useful in patients with congenital chylothorax? ( 22076538 )
2012
35
Ventilation mode and outcome of premature infants with congenital chylothorax. ( 22185327 )
2012
36
Long-term follow-up of children with congenital chylothorax. ( 23024332 )
2012
37
Five cases of congenital chylothorax treated by intrapleural minocycline. ( 23946900 )
2012
38
Congenital chylothorax in a late preterm infant and successful treatment with octreotide. ( 22036228 )
2011
39
Congenital chylothorax--successful management with chemical pleurodesis. ( 20140768 )
2010
40
Octreotid as a treatment of congenital chylothorax. ( 20503291 )
2010
41
Congenital chylothorax: from foetal life to adolescence. ( 20528795 )
2010
42
Surgical management of congenital chylothorax in children. ( 20577953 )
2010
43
Idiopathic congenital chylothorax treated with octreotide. ( 22750919 )
2010
44
Unusual case of congenital chylothorax. ( 19280501 )
2009
45
Treatment with OK-432 for persistent congenital chylothorax in newborn infants resistant to octreotide. ( 19302843 )
2009
46
Successful treatment of congenital chylothorax using fibrin glue. ( 19381502 )
2009
47
Congenital chylothorax. ( 19526181 )
2009
48
Congenital chylothorax: clinical course and prognostic significance. ( 19598277 )
2009
49
Idiopathic congenital chylothorax presented with severe hydrops and treated with octreotide in term newborn. ( 19916717 )
2009
50
[Congenital chylothorax and hypothyroidism: a case report and a review of the literature]. ( 19683420 )
2009

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
12.66 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
11.11 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 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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