MCID: CHY005
MIFTS: 38

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 PI3K-Akt signaling pathway and Focal Adhesion. Affiliated tissues include lymph node, and related phenotypes are homeostasis/metabolism and growth/size/body region

Description from OMIM: 603523

Related Diseases for Chylothorax, Congenital

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 ITGA9 ITGB1 MTM1 PTPN11 SPP1 SST
3 cardiovascular system MP:0005385 10.13 FLT4 FOXC2 ITGA9 ITGB1 MTM1 PTPN11
4 mortality/aging MP:0010768 10.1 ITGA9 ITGB1 MTM1 PTPN11 SPP1 SST
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 SPP1 ALB FLT4 FOXC2 ITGB1 MTM1
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 MTM1 PTPN11 SPP1 VCAM1 FLT4 ITGB1
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

Publications for Chylothorax, Congenital

Articles related to Chylothorax, Congenital:

(show all 22)
# Title Authors Year
1
Life-Threatening Hemolytic Anemia after Intrapleural Instillation of OK-432 for Treatment of Congenital Chylothorax. ( 27487035 )
2016
2
Congenital Chylothorax: A Unique Presentation of Nonimmune Hydrops Fetalis in a Preterm Infant. ( 26945279 )
2016
3
[Role of lymphatic scintigraphy and surgery in congenital chylothorax]. ( 28154676 )
2016
4
[Congenital chylothorax and hypothyroidism: a case report and a review of the literature]. ( 19683420 )
2009
5
Congenital chylothorax in Opitz G/BBB syndrome. ( 16619207 )
2006
6
The use of octreotide to treat congenital chylothorax. ( 16567206 )
2006
7
Somatostatin treatment of congenital chylothorax may induce transient hypothyroidism in newborns. ( 16188789 )
2005
8
Congenital chylothorax associated with isolated congenital hypoplastic superior caval vein: a case report. ( 16421051 )
2005
9
Congenital chylothorax treated with octreotide. ( 16272667 )
2005
10
Octreotide in the treatment of congenital chylothorax. ( 15367160 )
2004
11
Congenital chylothorax: lymphopenia and high risk of neonatal infections. ( 15046278 )
2004
12
Multimodal imaging in the congenital pulmonary lymphangiectasia-congenital chylothorax-hydrops fetalis continuum. ( 15109074 )
2004
13
Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant. ( 12868481 )
2003
14
Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. ( 12794699 )
2003
15
Bilateral congenital chylothorax with Noonan syndrome. ( 12428048 )
2002
16
Congenital chylothorax in neonatal thyrotoxicosis. ( 10685206 )
1999
17
Congenital chylothorax with hydrops: postnatal care and outcome following antenatal diagnosis. ( 7549291 )
1995
18
A case of congenital chylothorax treated by pleuroperitoneal drainage. ( 7965229 )
1994
19
Congenital chylothorax and mediastinal neuroblastoma. ( 2005537 )
1991
20
Surgical management of thoracic anomalies in infants. Respiratory-tract malformations, congenital chylothorax and mediastinal masses. ( 3387951 )
1988
21
Medium-chain triglycerides and total parenteral nutrition in the management of infants with congenital chylothorax. ( 3116675 )
1987
22
Congenital chylothorax: two cases associated with maternal polyhydramnios. ( 350039 )
1978

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 FLT4 ITGA9 ITGB1 SPP1
2
Show member pathways
12.52 FLT4 ITGA9 ITGB1 SPP1
3
Show member pathways
12.44 FLT4 ITGA9 ITGB1 SPOCK1 SPP1
4
Show member pathways
12.32 ITGA9 ITGB1 SPP1 VCAM1
5 11.81 FLT4 ITGA9 ITGB1
6 11.66 ITGA9 ITGB1 VCAM1
7 11.56 ALB ITGB1 VCAM1
8 11.22 PTPN11 SPP1
9 11.2 FOXC2 PTPN11
10 11.19 PTPN11 SPP1
11
Show member pathways
11.15 ITGB1 VCAM1
12
Show member pathways
11.1 ITGA9 ITGB1 SPP1 VCAM1
13 10.79 FLT4 ITGB1
14 10.78 ITGB1 PTPN11 VCAM1
15 10.73 ITGA9 ITGB1

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 positive regulation of endothelial cell migration GO:0010595 9.48 FLT4 FOXC2
2 response to steroid hormone GO:0048545 9.46 SPP1 SST
3 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.43 FLT4 VCAM1
4 leukocyte cell-cell adhesion GO:0007159 9.4 ITGB1 VCAM1
5 leukocyte tethering or rolling GO:0050901 9.37 ITGB1 VCAM1
6 cell adhesion GO:0007155 9.35 ITGA9 ITGB1 SPOCK1 SPP1 VCAM1
7 integrin-mediated signaling pathway GO:0007229 9.33 ITGA9 ITGB1 PTPN11
8 lymph vessel development GO:0001945 9.32 FLT4 FOXC2
9 lymphangiogenesis GO:0001946 9.26 FLT4 FOXC2
10 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 laminin binding GO:0043236 8.96 ITGA9 ITGB1
2 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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