MCID: CHY005
MIFTS: 39

Chylothorax, Congenital

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Chylothorax, Congenital

MalaCards integrated aliases for Chylothorax, Congenital:

Name: Chylothorax, Congenital 57 53 55 72
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:

Disease Ontology 12 DOID:0060646
OMIM 57 603523
ICD10 via Orphanet 34 I89.8
UMLS via Orphanet 73 C0340014
Orphanet 59 ORPHA264688
MedGen 42 C0340014
UMLS 72 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 congenital lymphedema and lymphedema. An important gene associated with Chylothorax, Congenital is SST (Somatostatin), and among its related pathways/superpathways are Phospholipase-C Pathway and Focal Adhesion. Affiliated tissues include lymph node, heart and testes, and related phenotypes are homeostasis/metabolism and growth/size/body region

More information from OMIM: 603523

Related Diseases for Chylothorax, Congenital

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

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 congenital lymphedema 30.2 FOXC2 FLT4
2 lymphedema 30.1 FOXC2 FLT4
3 hennekam syndrome 29.6 FLT4 ALB
4 cortical thymoma 10.3 VCAM1 SST
5 hereditary lymphedema 10.2 FOXC2 FLT4
6 chromosomal triplication 10.2
7 hydrocele 10.2 ITGB1 FLT4
8 noonan syndrome 1 10.1
9 pseudo-turner syndrome 10.1
10 esophageal varix 10.1 SST ALB
11 down syndrome 10.1
12 hydrops fetalis, nonimmune 10.1
13 pneumothorax 10.1
14 polyhydramnios 10.1
15 immune hydrops fetalis 10.1
16 klippel-trenaunay-weber syndrome 10.1 SST FOXC2 FLT4
17 hepatic vascular disease 10.0 SST ALB
18 vein disease 10.0 SST ALB
19 neuroblastoma 1 9.9
20 opitz gbbb syndrome, type i 9.9
21 cholestasis 9.9
22 hypothyroidism 9.9
23 lymphopenia 9.9
24 lung disease 9.9
25 tricuspid valve insufficiency 9.9 PTPN11 ALB
26 yellow nail syndrome 9.9 SST FOXC2 ALB
27 hernia, hiatus 9.9
28 noma 9.9 PTPN11 ALB
29 coloboma of macula 9.8
30 cornelia de lange syndrome 1 9.8
31 diaphragmatic hernia, congenital 9.8
32 thrombophilia due to thrombin defect 9.8
33 ascites, chylous 9.8
34 hennekam lymphangiectasia-lymphedema syndrome 1 9.8
35 graves disease 1 9.8
36 noonan syndrome 5 9.8
37 hydrops, lactic acidosis, and sideroblastic anemia 9.8
38 deficiency anemia 9.8
39 pulmonary hypertension 9.8
40 opitz-gbbb syndrome 9.8
41 hemopericardium 9.8
42 cornelia de lange syndrome 9.8
43 pericardial effusion 9.8
44 neutropenia 9.8
45 graves' disease 9.8
46 neonatal thyrotoxicosis 9.8
47 gonadal dysgenesis 9.8
48 bilirubin metabolic disorder 9.8
49 tracheal stenosis 9.8
50 turner syndrome 9.8

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 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 ALB FLT4 FOXC2 ITGA9 ITGB1 MTM1
2 growth/size/body region MP:0005378 10.11 FLT4 FOXC2 ITGA9 ITGB1 MTM1 PTPN11
3 cardiovascular system MP:0005385 10.1 FLT4 FOXC2 ITGA9 ITGB1 MTM1 PTPN11
4 mortality/aging MP:0010768 10.02 ALB FLT4 FOXC2 ITGA9 ITGB1 MTM1
5 immune system MP:0005387 10.01 FLT4 FOXC2 ITGA9 ITGB1 PTPN11 SPP1
6 digestive/alimentary MP:0005381 9.95 ALB FLT4 FOXC2 ITGB1 PTPN11 SST
7 liver/biliary system MP:0005370 9.91 ALB FLT4 FOXC2 ITGB1 MTM1 PTPN11
8 muscle MP:0005369 9.8 ALB FLT4 FOXC2 ITGB1 MTM1 PTPN11
9 no phenotypic analysis MP:0003012 9.7 FLT4 FOXC2 ITGA9 MTM1 PTPN11 SST
10 normal MP:0002873 9.61 ALB FLT4 FOXC2 ITGA9 ITGB1 MTM1
11 respiratory system MP:0005388 9.1 FOXC2 ITGA9 ITGB1 MTM1 PTPN11 SPP1

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

Publications for Chylothorax, Congenital

Articles related to Chylothorax, Congenital:

(show top 50) (show all 167)
# Title Authors PMID Year
1
Congenital chylothorax in siblings. 38 8
9764901 1998
2
Congenital pulmonary lymphangiectasis with chylothorax: a heterogeneous lymphatic vessel abnormality. 38 8
8368253 1993
3
Recurrent congenital chylothorax. 38 8
1800993 1991
4
Antenatal diagnosis of congenital chylothorax by gray scale sonography. 38 8
416049 1978
5
Intrinsic intrathoracic malformations of the fetus: sonographic detection and clinical presentation. 8
3306511 1987
6
The use of octreotide to treat congenital chylothorax. 9 38
16567206 2006
7
Congenital chylothorax treated with octreotide. 9 38
16272667 2005
8
Somatostatin treatment of congenital chylothorax may induce transient hypothyroidism in newborns. 9 38
16188789 2005
9
Octreotide in the treatment of congenital chylothorax. 9 38
15367160 2004
10
A Review of the Practicality of Feeding Defatted Human Milk in the Treatment of Congenital Chylothorax. 38
31403320 2019
11
Congenital Chylothorax in a Neonate with Cornelia de Lange Syndrome: A Rare Complication Managed with a Novel Indigenously Prepared Milk Formulation. 38
30879238 2019
12
Heparin in Congenital Chylothorax and Chylous Ascites. 38
31012049 2019
13
Rare case of congenital chylothorax and challenges in its management. 38
31122954 2019
14
[Clinical features and prognosis of neonates with nonimmune hydrops fetalis]. 38
30907350 2019
15
Chylothorax and Chylous-Like Diseases in Children: Clinical Management. 38
31316953 2019
16
Successful treatment of congenital chylothorax with skimmed milk and long course octreotide. 38
30567162 2018
17
Fetal intervention for congenital chylothorax is associated with improved outcomes in early life. 38
30278954 2018
18
Infant fatality case with excessive chylous ascites. 38
29475120 2018
19
Successful management of extremely high-output refractory congenital chylothorax with chemical pleurodesis using 4% povidone-iodine and propranolol: a case report. 38
29636944 2018
20
Ultrasonographic confirmation of tracheal intubation for congenital chylothorax. 38
29480539 2018
21
Pediatric lymphangiography, thoracic duct embolization and thoracic duct disruption: a single-institution experience in 11 children with chylothorax. 38
28956103 2018
22
Prenatal factors associated with neonatal survival of infants with congenital chylothorax. 38
29048403 2018
23
Treatment of fetal congenital chylothorax: Report of eight cases at a mainland Chinese medical center. 38
29241937 2017
24
Congenital chylothorax. 38
28351595 2017
25
Effects of somatostatin/octreotide treatment in neonates with congenital chylothorax. 38
28723800 2017
26
Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. 38
28363362 2017
27
Presentations and management of different causes of chylothorax in children: one medical center's experience. 38
28474581 2017
28
Successful treatment of familial congenital chylothorax by ligation of the thoracic duct: A case report. 38
28393010 2017
29
Povidone Iodine Pleurodesis for Refractory Congenital Chylothorax: A Review of Literature. 38
28994881 2016
30
Chemical Pleurodesis with Oxytetracycline in Congenital Chylothorax. 38
28064267 2016
31
Treatment of persistent congenital chylothorax with intrapleural injection of sapylin in infants. 38
27882042 2016
32
Congenital Chylothorax of the Newborn: Diagnosis and Treatment in Three Pictures. 38
29906078 2016
33
Congenital Chylothorax: A Unique Presentation of Nonimmune Hydrops Fetalis in a Preterm Infant. 38
26945279 2016
34
Prenatal Therapy Improves the Survival of Premature Infants with Congenital Chylothorax. 38
26315047 2016
35
Congenital Chylothorax: Antenatal Intervention, Survival, and Outcome. 38
26976494 2016
36
[Role of lymphatic scintigraphy and surgery in congenital chylothorax]. 38
28154676 2016
37
Povidone-iodine pleurodesis for congenital chylothorax of the newborn. 38
26419497 2016
38
Life-Threatening Hemolytic Anemia after Intrapleural Instillation of OK-432 for Treatment of Congenital Chylothorax. 38
27487035 2016
39
[A case of X-linked myotubular myopathy with chylothorax]. 38
27012108 2016
40
Thoracoscopic pleural clipping for the management of congenital chylothorax. 38
26276425 2015
41
Low Dose of Octreotide Can be Helpful in the Management of Congenital Chylothorax. 38
26568847 2015
42
Safety of octreotide in hospitalized infants. 38
25968047 2015
43
Thoracoscopic Thoracic Duct Ligation for Congenital and Acquired Disease. 38
25629239 2015
44
Congenital chylothorax treated with oral sildenafil: a case report and review of the literature. 38
25917021 2015
45
Congenital chylothorax: a prospective nationwide epidemiological study in Germany. 38
25480460 2015
46
Report of a case of neonatal chylothorax that responded to long-term octreotide treatment, and review of the literature. 38
26690606 2015
47
Congenital chylothorax in newborn with trisomy 21. 38
25541830 2014
48
[Congenital chylothorax: rapid and complete response to polyvidone iodine]. 38
25153807 2014
49
Congenital pulmonary lymphangiectasis. 38
24997116 2014
50
Chemical pleurodesis using a Viscum album extract in infants with congenital chylothorax. 38
24573572 2014

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 SPP1 SPOCK1 ITGB1 ITGA9 FLT4
2
Show member pathways
12.58 SPP1 ITGB1 ITGA9 FLT4
3
Show member pathways
12.39 VCAM1 SPP1 ITGB1 ITGA9
4 11.83 ITGB1 ITGA9 FLT4
5
Show member pathways
11.76 VCAM1 SPP1 SPOCK1 ITGB1 ITGA9
6 11.74 VCAM1 ITGB1 ITGA9
7 11.67 VCAM1 ITGB1 ALB
8
Show member pathways
11.17 VCAM1 ITGB1
9
Show member pathways
11.12 VCAM1 SPP1 ITGB1 ITGA9
10 10.84 ITGB1 FLT4
11 10.78 ITGB1 ITGA9
12 10.78 VCAM1 PTPN11 ITGB1
13 10.46 SPP1 SPOCK1 ITGB1 ITGA9 FLT4

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 ITGB1 ITGA9
2 filopodium GO:0030175 8.8 VCAM1 MTM1 ITGB1

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 VCAM1 FLT4
2 response to steroid hormone GO:0048545 9.43 SST SPP1
3 leukocyte cell-cell adhesion GO:0007159 9.4 VCAM1 ITGB1
4 leukocyte tethering or rolling GO:0050901 9.37 VCAM1 ITGB1
5 cell adhesion GO:0007155 9.35 VCAM1 SPP1 SPOCK1 ITGB1 ITGA9
6 integrin-mediated signaling pathway GO:0007229 9.33 PTPN11 ITGB1 ITGA9
7 lymphangiogenesis GO:0001946 9.32 FOXC2 FLT4
8 lymph vessel development GO:0001945 9.26 FOXC2 FLT4
9 extracellular matrix organization GO:0030198 8.92 VCAM1 SPP1 ITGB1 ITGA9

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 SPP1 SPOCK1
2 laminin binding GO:0043236 8.96 ITGB1 ITGA9
3 cell adhesion molecule binding GO:0050839 8.8 VCAM1 PTPN11 ITGB1

Sources for Chylothorax, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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