MCID: CHY005
MIFTS: 37

Chylothorax, Congenital

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Chylothorax, Congenital

MalaCards integrated aliases for Chylothorax, Congenital:

Name: Chylothorax, Congenital 57 20 54 71
Congenital Chylothorax 12 58 15
Hydrothorax, Congenital 57

Characteristics:

Orphanet epidemiological data:

58
congenital chylothorax
Inheritance: Not applicable; Prevalence: 1-9/100000 (Germany); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:0060646
OMIM® 57 603523
ICD10 via Orphanet 33 I89.8
UMLS via Orphanet 72 C0340014
Orphanet 58 ORPHA264688
MedGen 41 C0340014
UMLS 71 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 lymphangioma. An important gene associated with Chylothorax, Congenital is SST (Somatostatin), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. Affiliated tissues include heart, and related phenotypes are cardiovascular system and immune system

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 84)
# Related Disease Score Top Affiliating Genes
1 congenital lymphedema 29.4 VEGFD VEGFC FOXC2 FLT4
2 lymphangioma 29.0 VEGFC PROX1 LYVE1 FLT4
3 hennekam syndrome 27.5 VEGFC SOX18 PROX1 LYVE1 GJC2 FOXC2
4 hydrops fetalis, nonimmune 10.5
5 chromosomal triplication 10.2
6 noonan syndrome 1 10.2
7 polyhydramnios 10.2
8 lymphangiectasis 10.2
9 pseudo-turner syndrome 10.2
10 down syndrome 10.1
11 pneumothorax 10.1
12 immune hydrops fetalis 10.1
13 cholestasis-lymphedema syndrome 10.1 SOX18 CCBE1
14 elephantiasis 10.1 VEGFC FLT4
15 pulmonary hypertension 10.0
16 lymphocele 10.0 VEGFC LYVE1
17 yellow nail syndrome 10.0 SST SOX18 FOXC2
18 breast angiosarcoma 10.0 PROX1 FLT4
19 twin-to-twin transfusion syndrome 10.0 VEGFD VEGFC
20 hypotrichosis 10.0 SOX18 FOXC2 FLT4
21 opitz gbbb syndrome, type i 10.0
22 cholestasis 10.0
23 hypothyroidism 10.0
24 lymphopenia 10.0
25 kaposiform hemangioendothelioma 9.9 PROX1 FLT4
26 kuhnt-junius degeneration 9.9 VEGFD VEGFC
27 stork bite 9.9 PROX1 FLT4
28 cystic lymphangioma 9.9 PROX1 FOXC2
29 acquired hemangioma 9.9 PROX1 LYVE1
30 intramuscular hemangioma 9.9 PROX1 LYVE1
31 gorham's disease 9.9 VEGFC LYVE1 FLT4
32 pyriform sinus cancer 9.9 VEGFC LYVE1 FLT4
33 klippel-trenaunay-weber syndrome 9.8 SST SOX18 FOXC2 FLT4
34 coloboma of macula 9.8
35 cornelia de lange syndrome 1 9.8
36 ascites, chylous 9.8
37 hennekam lymphangiectasia-lymphedema syndrome 1 9.8
38 neuroblastoma 1 9.8
39 graves disease 1 9.8
40 noonan syndrome 5 9.8
41 deficiency anemia 9.8
42 opitz-gbbb syndrome 9.8
43 human cytomegalovirus infection 9.8
44 respiratory failure 9.8
45 arteriovenous malformation 9.8
46 hemopericardium 9.8
47 cornelia de lange syndrome 9.8
48 pericardial effusion 9.8
49 neutropenia 9.8
50 graves' disease 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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Chylothorax, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 EFNB2 FLT4 FOXC2 ITGA9 LYVE1 PROX1
2 immune system MP:0005387 10.03 CCBE1 EFNB2 FLT4 FOXC2 GJC2 ITGA9
3 homeostasis/metabolism MP:0005376 10.02 CCBE1 EFNB2 FLT4 FOXC2 ITGA9 PROX1
4 adipose tissue MP:0005375 9.91 FLT4 FOXC2 PROX1 SOX18 SST VEGFD
5 mortality/aging MP:0010768 9.9 CCBE1 EFNB2 FLT4 FOXC2 GJC2 ITGA9
6 digestive/alimentary MP:0005381 9.85 EFNB2 FLT4 FOXC2 PROX1 SOX18 SST
7 no phenotypic analysis MP:0003012 9.35 EFNB2 FLT4 FOXC2 ITGA9 SST
8 normal MP:0002873 9.32 CCBE1 EFNB2 FLT4 FOXC2 GJC2 ITGA9

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:

40
Heart

Publications for Chylothorax, Congenital

Articles related to Chylothorax, Congenital:

(show top 50) (show all 183)
# Title Authors PMID Year
1
Congenital chylothorax in siblings. 61 57
9764901 1998
2
Congenital pulmonary lymphangiectasis with chylothorax: a heterogeneous lymphatic vessel abnormality. 57 61
8368253 1993
3
Recurrent congenital chylothorax. 61 57
1800993 1991
4
Antenatal diagnosis of congenital chylothorax by gray scale sonography. 57 61
416049 1978
5
Intrinsic intrathoracic malformations of the fetus: sonographic detection and clinical presentation. 57
3306511 1987
6
The use of octreotide to treat congenital chylothorax. 61 54
16567206 2006
7
Congenital chylothorax treated with octreotide. 61 54
16272667 2005
8
Somatostatin treatment of congenital chylothorax may induce transient hypothyroidism in newborns. 54 61
16188789 2005
9
Octreotide in the treatment of congenital chylothorax. 61 54
15367160 2004
10
Congenital Chylothorax and Hydrops Fetalis: A Novel Neonatal Presentation of RASA1 Mutation. 61
33608416 2021
11
Should Newborns with Refractory Chylothorax Be Tried on Higher Dose of Octreotide? 61
33494092 2021
12
Chylothorax Associated with Congenital Complete Atrioventricular Block. 61
33294285 2020
13
Combination Therapy with Etilefrine and Pleurodesis for Refractory Congenital Chylothorax. 61
33564667 2020
14
Efficacy of Early Pleurectomy for Severe Congenital Chylothorax. 61
32795706 2020
15
Congenital Chylothorax with Lymphatic Malformation and Successful Antenatal and Postnatal Management. 61
32444523 2020
16
Necrotising enterocolitis in a newborn infant treated with octreotide for chylous effusion: is octreotide safe? 61
32051156 2020
17
In utero congenital chylothorax treatment with fetal thoracoamniotic shunt: Case report. 61
31744022 2020
18
Octreotide Infusion for the Treatment of Congenital Chylothorax. 61
33224547 2020
19
The Practicality of Feeding Defatted Human Milk in the Treatment of Congenital Chylothorax. 61
31403320 2019
20
Congenital Chylothorax: Common and Uncommon Findings in an Infant with Chylous Effusions. 61
31712400 2019
21
Lymphovenous anastomosis for the treatment of persistent congenital chylothorax in a low-birth-weight infant: A case report. 61
31651860 2019
22
Congenital Chylothorax in a Neonate with Cornelia de Lange Syndrome: A Rare Complication Managed with a Novel Indigenously Prepared Milk Formulation. 61
30879238 2019
23
Heparin in Congenital Chylothorax and Chylous Ascites. 61
31012049 2019
24
Rare case of congenital chylothorax and challenges in its management. 61
31122954 2019
25
[Clinical features and prognosis of neonates with nonimmune hydrops fetalis]. 61
30907350 2019
26
Congenital chylothorax: Current evidence-based prenatal and post-natal diagnosis and management. 61
31874123 2019
27
A rare case of congenital chylothorax in a Palestinian neonate. 61
31667073 2019
28
Chylothorax and Chylous-Like Diseases in Children: Clinical Management. 61
31316953 2019
29
Successful treatment of congenital chylothorax with skimmed milk and long course octreotide. 61
30567162 2018
30
Fetal intervention for congenital chylothorax is associated with improved outcomes in early life. 61
30278954 2018
31
Infant fatality case with excessive chylous ascites. 61
29475120 2018
32
Successful management of extremely high-output refractory congenital chylothorax with chemical pleurodesis using 4% povidone-iodine and propranolol: a case report. 61
29636944 2018
33
Causes and manifestations of chylothorax in children in China: Experience from a children's medical center, 2007-2017. 61
32851223 2018
34
Ultrasonographic confirmation of tracheal intubation for congenital chylothorax. 61
29480539 2018
35
Pediatric lymphangiography, thoracic duct embolization and thoracic duct disruption: a single-institution experience in 11 children with chylothorax. 61
28956103 2018
36
Prenatal factors associated with neonatal survival of infants with congenital chylothorax. 61
29048403 2018
37
Congenital chylothorax: Rare disease, wide concern. 61
32851214 2017
38
Management and outcomes of congenital chylothorax in the neonatal intensive care unit: A case series. 61
32851213 2017
39
Treatment of fetal congenital chylothorax: Report of eight cases at a mainland Chinese medical center. 61
29241937 2017
40
Congenital chylothorax. 61
28351595 2017
41
Effects of somatostatin/octreotide treatment in neonates with congenital chylothorax. 61
28723800 2017
42
Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. 61
28363362 2017
43
Presentations and management of different causes of chylothorax in children: one medical center's experience. 61
28474581 2017
44
Successful treatment of familial congenital chylothorax by ligation of the thoracic duct: A case report. 61
28393010 2017
45
Povidone Iodine Pleurodesis for Refractory Congenital Chylothorax: A Review of Literature. 61
28994881 2016
46
Chemical Pleurodesis with Oxytetracycline in Congenital Chylothorax. 61
28064267 2016
47
Treatment of persistent congenital chylothorax with intrapleural injection of sapylin in infants. 61
27882042 2016
48
Congenital Chylothorax of the Newborn: Diagnosis and Treatment in Three Pictures. 61
29906078 2016
49
Congenital Chylothorax: Antenatal Intervention, Survival, and Outcome. 61
26976494 2016
50
Prenatal Therapy Improves the Survival of Premature Infants with Congenital Chylothorax. 61
26315047 2016

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 VEGFD VEGFC ITGA9 FLT4
2
Show member pathways
12.47 VEGFD VEGFC ITGA9 FLT4
3
Show member pathways
12.01 VEGFD VEGFC FLT4
4 11.99 VEGFD VEGFC FLT4
5
Show member pathways
11.92 VEGFD VEGFC ITGA9 FLT4
6 11.6 VEGFC FLT4 EFNB2
7 11.21 VEGFC PROX1 FLT4 EFNB2
8 11.16 VEGFC FOXC2
9 10.69 VEGFD VEGFC FLT4
10 10.57 VEGFD VEGFC ITGA9 FLT4
11
Show member pathways
10 VEGFD VEGFC FLT4

GO Terms for Chylothorax, Congenital

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10 VEGFD VEGFC SOX18 FOXC2 EFNB2
2 multicellular organism development GO:0007275 10 VEGFD VEGFC PROX1 FOXC2 FLT4 EFNB2
3 positive regulation of cell proliferation GO:0008284 9.92 VEGFD VEGFC PROX1 FLT4 EFNB2
4 cell-cell signaling GO:0007267 9.81 SST GJC2 EFNB2
5 positive regulation of protein phosphorylation GO:0001934 9.8 VEGFD VEGFC FLT4
6 anatomical structure morphogenesis GO:0009653 9.78 SOX18 LYVE1 FOXC2 EFNB2
7 positive regulation of angiogenesis GO:0045766 9.77 VEGFD VEGFC CCBE1
8 positive regulation of endothelial cell proliferation GO:0001938 9.71 VEGFD VEGFC PROX1 FLT4
9 positive regulation of endothelial cell migration GO:0010595 9.67 PROX1 FOXC2 FLT4 CCBE1
10 positive regulation of cell division GO:0051781 9.65 VEGFD VEGFC
11 positive chemotaxis GO:0050918 9.64 VEGFD VEGFC
12 respiratory gaseous exchange GO:0007585 9.63 FLT4 CCBE1
13 angiogenesis GO:0001525 9.63 VEGFD VEGFC SOX18 FLT4 EFNB2 CCBE1
14 positive regulation of vascular endothelial growth factor production GO:0010575 9.62 FLT4 CCBE1
15 blood vessel morphogenesis GO:0048514 9.62 FLT4 EFNB2
16 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.62 VEGFD VEGFC FOXC2 FLT4
17 vasculature development GO:0001944 9.61 SOX18 FLT4
18 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.61 PROX1 FOXC2
19 vascular endothelial growth factor signaling pathway GO:0038084 9.61 VEGFD VEGFC FLT4
20 embryonic heart tube development GO:0035050 9.58 SOX18 FOXC2
21 induction of positive chemotaxis GO:0050930 9.58 VEGFD VEGFC
22 respiratory system process GO:0003016 9.57 FLT4 CCBE1
23 lymphatic endothelial cell differentiation GO:0060836 9.56 SOX18 PROX1
24 sprouting angiogenesis GO:0002040 9.56 VEGFD VEGFC FLT4 CCBE1
25 positive regulation of mast cell chemotaxis GO:0060754 9.55 VEGFD VEGFC
26 venous blood vessel morphogenesis GO:0048845 9.54 PROX1 CCBE1
27 endocardium formation GO:0060214 9.51 SOX18 PROX1
28 positive regulation of lymphangiogenesis GO:1901492 9.49 VEGFC CCBE1
29 lymphangiogenesis GO:0001946 9.35 SOX18 PROX1 FOXC2 FLT4 CCBE1
30 lymph vessel development GO:0001945 9.02 SOX18 PROX1 FOXC2 FLT4 CCBE1

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

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 9.43 SOX18 PROX1 FOXC2
2 chemoattractant activity GO:0042056 9.16 VEGFD VEGFC
3 vascular endothelial growth factor receptor binding GO:0005172 8.96 VEGFD VEGFC
4 vascular endothelial growth factor receptor 3 binding GO:0043185 8.62 VEGFD VEGFC

Sources for Chylothorax, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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