Summaries for Cystic Lymphangioma

Sources:
30NIH Rare Diseases, 22MalaCards
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NIH Rare Diseases: Cystic hygroma is a birth defect that causes a soft mass, often in the head and neck area. It may be discovered in a fetus during a pregnancy ultrasound, in a newborn, or it may not become evident until later in life. When a cystic hygroma is identified in a fetus, parents are counseled regarding their baby's risk for having a chromosome problem or other birth defect, and are offered additional testing options such as special ultrasound tests or amniocentesis. Cystic hygromas in infants, children, or adults may enlarge or become infected, and may require surgery or other therapy to remove or shrink the mass.30

MalaCards: Cystic Lymphangioma, also known as cystic hygroma, is related to multiple pterygium syndrome lethal type and lymphangioma. An important gene associated with Cystic Lymphangioma is VEZF1 (vascular endothelial zinc finger 1), and among its related pathways are Highly sodium permeable acetylcholine nicotinic receptors and Calcium channels. The compounds mecamylamine hydrochloride and (+-)-epibatidine have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and respiratory system.

Aliases & Descriptions for Cystic Lymphangioma

Sources:
6Disease Ontology, 8DISEASES, 30NIH Rare Diseases, 43UMLS, 24MeSH, 40SNOMED-CT, 27NCIt
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Aliases & Descriptions:

cystic lymphangioma 6 8
cystic hygroma 6 30
cystic lymphangioma (morphologic abnormality) 6
cystic hygroma (disorder) 6
lymphangioma, cystic 43

External Ids:

NCIt27 C3724

Related Diseases for Cystic Lymphangioma

Sources:
13GeneCards, 14GeneDecks
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Diseases related to cystic lymphangioma by text searches and GeneDecks gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1multiple pterygium syndrome lethal type30.0CHRND, CHRNG
2lymphangioma26.5VEZF1, CHRND, IFNG, PTCH1, DSCAM, TGFB1
3slow-channel congenital myasthenic syndrome13.3CHRNB1, CHRND
4congenital myasthenic syndrome associated with acetylcholine receptor deficiency13.2RAPSN, CHRNB1
5congenital myasthenic syndrome13.0CHRNB1, CHRND, RAPSN
6fetal akinesia deformation sequence13.0RAPSN, CHRND, CHRNG
7myasthenic syndrome13.0CHRNB1, CHRND, RAPSN
8nicotine dependence12.9CHRNG, CHRNB1, CHRND
9arthrogryposis12.9RAPSN, CHRND, CHRNG
10oligohydramnios12.8CHRNG, AFP, CHRND
11ptosis12.8CHRND, CHRNB1, CHRNG
12cluttering12.4IFNG, TGFB1
13eosinophilia-myalgia syndrome12.4IFNG, TGFB1
14chronic active epstein-barr virus infection12.3IFNG, TGFB1
15strongyloidiasis12.2IFNG, TGFB1
16multiple pterygium syndrome escobar type12.2CHRNG, CHRNB1, TGFB1, CHRND, RAPSN
17usual interstitial pneumonia12.1TGFB1, IFNG
18nonspecific interstitial pneumonia12.0IFNG, TGFB1
19hepatitis b12.0IFNG, TGFB1, AFP
20alpha 1-antitrypsin deficiency12.0AFP, TGFB1, IFNG
21hemophilia11.9AFP, TGFB1, IFNG
22hepatitis a11.9IFNG, TGFB1, AFP
23subacute thyroiditis11.8IFNG, TGFB1
24hepatitis c11.8AFP, TGFB1, IFNG
25spontaneous abortion11.7IFNG, TGFB1, AFP
26myasthenia gravis11.6RAPSN, CHRND, IFNG, TGFB1, CHRNG
27noma11.5AFP, TGFB1, PTCH1, IFNG
28down syndrome10.5AFP, TGFB1, DSCAM, PTCH1, IFNG, MAST4
29abdominal cystic lymphangioma8.5
30cystic hygroma lethal cleft palate7.6
31nuchal bleb, familial7.6
32hygroma cervical6.7

Graphical network of the top 20 diseases related to cystic lymphangioma:



Graphical network of diseases related to cystic lymphangioma

Clinical Features for Cystic Lymphangioma

Drugs & Therapeutics for Cystic Lymphangioma

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials
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Approved drugs:

Search CenterWatch for cystic lymphangioma

Drug clinical trials:

Search ClinicalTrials for cystic lymphangioma

Search NIH Clinical Center for cystic lymphangioma

Search CenterWatch for cystic lymphangioma

Genetic Tests for Cystic Lymphangioma

Anatomical Context for Cystic Lymphangioma

Phenotypes for genes affiliated with Cystic Lymphangioma

Sources:
25MGI
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MGI Mouse Phenotypes related to cystic lymphangioma:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1craniofacial phenotypeMP:00053827.4VEZF1, IFNG, PTCH1, HIRA, DSCAM, TGFB1
2respiratory system phenotypeMP:00053887.2CHRNG, TGFB1, DSCAM, PTCH1, IFNG, RAPSN
3mortality/agingMP:00107686.4AFP, TGFB1, DSCAM, HIRA, PTCH1, IFNG

Publications for genes affiliated with Cystic Lymphangioma

Sources:
35PubMed
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Articles related to cystic lymphangioma:

idTitleAuthorsYearAffiliating Genes
1Surgery for cystic lymphangioma in Gorlin-Goltz syndrome. (17221269)Kayser C.... Eggstein S.2007PTCH1
2A role of cytokines in OK-432 injection therapy for cystic lymphangioma: an approach to the mechanism. (14666473)Fujino A.... Kitajima M.2003TGFB1, IFNG

Expression for genes affiliated with Cystic Lymphangioma

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Cystic Lymphangioma

Pathways for genes affiliated with Cystic Lymphangioma

Sources:
38Reactome, 10EMD Millipore, 36QIAGEN
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Pathways related to cystic lymphangioma according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1Highly sodium permeable acetylcholine nicotinic receptors389.8CHRND, CHRNG
2Calcium channels109.4CHRND, CHRNB1, CHRNG
3eNOS Signaling369.1CHRND, TGFB1, CHRNB1, CHRNG

Compounds for genes affiliated with Cystic Lymphangioma

Sources:
42Tocris Bioscience, 32Novoseek , 34PharmGKB, 9DrugBank
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Compounds related to cystic lymphangioma according to GeneDecks:

idCompoundScoreTop Affiliating Genes
1mecamylamine hydrochloride42 10.0CHRNG, CHRNB1
2(+-)-epibatidine42 9.9CHRNB1, CHRNG
3alpha-conotoxin ei42 9.8CHRND, CHRNB1, CHRNG
4galantamine32 34 9 9 12.8CHRND, CHRNB1, CHRNG
5(+-)-anatoxin a fumarate42 9.7CHRNB1, CHRNG
6pirfenidone32 9.4IFNG, TGFB1
7acyclovir32 9.4IFNG, AFP
8tranilast32 9.3IFNG, TGFB1

GO Terms for genes affiliated with Cystic Lymphangioma

Sources:
12Gene Ontology
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Cellular components related to cystic lymphangioma according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-gated channel complexGO:0058929.9CHRND, CHRNB1
2postsynaptic membraneGO:0452119.2RAPSN, CHRND, CHRNB1, CHRNG
3cell junctionGO:0300549.0CHRNG, CHRNB1, CHRND, RAPSN

Biological processes related to cystic lymphangioma according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069369.7CHRND, CHRNB1, CHRNG
2synaptic transmission, cholinergicGO:0072719.6RAPSN, CHRNB1
3protein import into nucleus, translocationGO:0000609.3IFNG, TGFB1
4transportGO:0068109.0CHRNG, AFP, CHRND, CLIC2

Molecular functions related to cystic lymphangioma according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine bindingGO:0421669.9CHRND, CHRNB1
2channel activityGO:0152679.9CHRNB1, CHRNG
3acetylcholine-activated cation-selective channel activityGO:0048899.7CHRND, CHRNB1, CHRNG
4acetylcholine receptor activityGO:0154649.7CHRNB1, CHRNG

Sources for Cystic Lymphangioma

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS