MCID: CYS002
MIFTS: 56

Cystic Lymphangioma malady

Rare diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Cancer diseases, Immune diseases categories
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Summaries for Cystic Lymphangioma

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Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 3/4/2010

MalaCards: Cystic Lymphangioma, also known as cystic hygroma, is related to multiple pterygium syndrome lethal type and hepatitis. An important gene associated with Cystic Lymphangioma is CHRNG (cholinergic receptor, nicotinic, gamma (muscle)), and among its related pathways are Activation of Nicotinic Acetylcholine Receptors and Calcium channels. The compounds galantamine and acyclovir have been mentioned in the context of this disorder. Affiliated tissues include testes, pancreas and colon, and related mouse phenotypes are tumorigenesis and integument.

Description from OMIM:47 257350

Aliases & Classifications for Cystic Lymphangioma

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8Disease Ontology, 10DISEASES, 43NIH Rare Diseases, 49Orphanet, 47OMIM, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
cystic hygroma:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

cystic lymphangioma 8 10
cystic hygroma 8 43 49 47
lymphangioma, cystic 62


External Ids:

Disease Ontology8 DOID:3081
NCIt40 C3724
MeSH35 D018191
OMIM47 257350
ICD10 via Orphanet26 D18.1
SNOMED-CT via Orphanet59 399882002

Related Diseases for Cystic Lymphangioma

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Cystic Lymphangioma:



Diseases related to cystic lymphangioma

Symptoms for Cystic Lymphangioma

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47OMIM
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Clinical features from OMIM:

257350

Drugs & Therapeutics for Cystic Lymphangioma

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Cystic Lymphangioma

Search NIH Clinical Center for Cystic Lymphangioma

Genetic Tests for Cystic Lymphangioma

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Anatomical Context for Cystic Lymphangioma

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33MalaCards
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MalaCards organs/tissues related to Cystic Lymphangioma:

33
Testes, Pancreas, Colon, Spleen, Breast, Skin, Adrenal gland, Tongue, Kidney, Thyroid, Heart, Lung, Liver, Testis

Animal Models for Cystic Lymphangioma or affiliated genes

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37MGI
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Publications for Cystic Lymphangioma

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52PubMed
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Articles related to Cystic Lymphangioma:

(show top 50)    (show all 343)
idTitleAuthorsYear
1
Pericardial cystic lymphangioma. (23034994)
2013
2
An unusual cause of abdominal pain: duodenal cystic lymphangioma. (23961273)
2013
3
Differentiating a large abdominal cystic lymphangioma from multicystic mesothelioma: report of a case. (23807639)
2013
4
Intestinal obstruction complicating a mesenteric cystic lymphangioma. (22795361)
2012
5
Huge cystic lymphangioma of the pancreas mimicking pancreatic cystic neoplasm. (23197988)
2012
6
Cystic fibrosis and retroperitoneal cystic lymphangioma: a novel match. (22273284)
2012
7
A case of laparoscopic excision of a huge retroperitoneal cystic lymphangioma. (22606623)
2011
8
Successful excision of an isolated mediastinal cystic lymphangioma with bilateral thoracoscopic surgery. (21881369)
2011
9
Cystic lymphangioma of the breast in a 6-year-old boy. (19853765)
2009
10
Retroperitoneal cystic lymphangioma: a rare presentation in childhood, treated laparoscopically. (19215217)
2009
11
Cystic lymphangioma-like adenomatoid tumor of the adrenal gland: Case presentation and review of the literature. (19851133)
2009
12
Cystic lymphangioma of the gallbladder: report of a case. (18085372)
2008
13
Lingual cystic lymphangioma in an elderly patient. (19052498)
2008
14
Cystic lymphangioma of the lesser sac presenting as acute appendicitis: A case report. (18783617)
2008
15
Cystic lymphangioma of the pancreas. (19058318)
2008
16
Cystic lymphangioma of the pancreas. (17368224)
2007
17
Cystic lymphangioma of the lesser sac. (16955953)
2006
18
Prenatal diagnosis of a fetal chest wall cystic lymphangioma using ultrasonography and MRI: a case report with literature review. (16260884)
2005
19
Image of the month. Cystic lymphangioma. (16027339)
2005
20
Mesenteric cystic lymphangioma causing intestinal occlusion in an adult patient. (14722994)
2003
21
Asymptomatic adult cystic lymphangioma of the spleen: case report and review of the literature. (12620551)
2003
22
Antepartum assessment of fetal cystic lymphangioma by magnetic resonance imaging. (12186991)
2002
23
Abdominal cystic lymphangioma: a rare cause of acute abdomen in a neonate. (11737721)
2001
24
Giant cystic lymphangioma of the stomach. (11841086)
2001
25
Huge cystic lymphangioma of the pancreas: report of a case. (11510617)
2001
26
Abdominal cystic lymphangioma in a woman at 14 weeks' gestation: case report. (11055491)
2000
27
Cystic lymphangioma in an asymptomatic newborn: an uncommon localization in the ileum. (10204513)
1999
28
Bilateral cystic lymphangioma of the adrenal gland. (10219366)
1999
29
Mediastinal cystic lymphangioma: report of two cases. (9323827)
1997
30
Progressive fetal axillary cystic lymphangioma with coexistent naevus flammeus. (9039304)
1997
31
Prenatal ultrasonographic findings of intra-abdominal cystic lymphangioma: a case report. (9142629)
1997
32
Radiology/pathology conference: mesenteric cystic lymphangioma. (8692443)
1996
33
Abdominal cystic lymphangioma in children: benign lesions that can have a proliferative course. (8861480)
1996
34
Cystic lymphangioma of the transverse colon: report of a case and review of the literature. (8832861)
1996
35
Laparoscopic resection of a retroperitoneal cystic lymphangioma. (7878511)
1994
36
Intra-abdominal cystic lymphangioma. (7927442)
1994
37
Cystic lymphangioma of the kidney: a rare cause of multiloculated renal masses. (1999216)
1991
38
Abdominal cystic lymphangioma. A case report and a review of the literature. (2180901)
1990
39
Hyponatremia resulting from loss of lymphatic fluid in an infant with cystic lymphangioma. (3723245)
1986
40
Sonographic appearance of an abdominal cystic lymphangioma. (6699930)
1984
41
Cystic lymphangioma of the colon. Report of a case and review of the literature. (6489077)
1984
42
Cystic lymphangioma of stomach and jejunum: report of one case. (7242097)
1981
43
Recurrent massive cystic lymphangioma. (114944)
1978
44
Solitary cystic lymphangioma of the retroperitoneum. (904040)
1977
45
Cystic lymphangioma of the cecum with ileocecal intussusception: Case report. (1163907)
1975
46
Case report: Cystic lymphangioma of the vallecula. (1131722)
1975
47
Symptomatic venous compression from a mediastinal cystic lymphangioma. (4574172)
1973
48
Cystic lymphangioma of the parotid region. (14417246)
1960
49
Ureteral obstruction due to retroperitoneal lymphatic cyst (cystic lymphangioma). (13655395)
1959
50
CYSTIC LYMPHANGIOMA OF THE GREAT OMENTUM. (17863276)
1914

Variations for Cystic Lymphangioma

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Expression for genes affiliated with Cystic Lymphangioma

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cystic Lymphangioma

Search GEO for disease gene expression data for Cystic Lymphangioma.

Pathways for genes affiliated with Cystic Lymphangioma

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Sources:
50PathCards, 55Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 57SinoBiological, 30KEGG, 54R&D Systems, 53QIAGEN
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Pathways related to Cystic Lymphangioma according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9CHRNG, CHRND
29.9CHRND, CHRNG
39.7AFP, IFNG
49.7TGFB1, PTCH1
5
Show member pathways
9.6IFNG, TGFB1
69.6IFNG, TGFB1
79.6IFNG, TGFB1
8
Show member pathways
9.6IFNG, TGFB1
9
Show member pathways
9.6IFNG, TGFB1
109.6IFNG, TGFB1
119.6IFNG, TGFB1
129.6IFNG, TGFB1
139.6TGFB1, IFNG
14
Show member pathways
IL27-mediated signaling events38
9.6IFNG, TGFB1
15
Show member pathways
9.4CHRNG, CHRND, TGFB1
16
Show member pathways
9.4CHRNG, CHRND, TGFB1

Compounds for genes affiliated with Cystic Lymphangioma

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45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 24HMDB
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Compounds related to Cystic Lymphangioma according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1galantamine45 51 1112.2CHRNG, CHRND
2acyclovir45 1111.0IFNG, AFP
3con a4510.0IFNG, AFP
4tranilast459.9IFNG, TGFB1
5pirfenidone45 6110.9TGFB1, IFNG
6gm-csf45 2910.9IFNG, TGFB1
7anti-fungal459.9IFNG, AFP
8methylcellulose459.9TGFB1, IFNG
9ribavirin45 51 1111.8IFNG, AFP
10il 10459.8IFNG, TGFB1
114-hydroxytamoxifen459.7TGFB1, IFNG
12polyethylene glycol459.6TGFB1, AFP
13pdtc459.6IFNG, TGFB1
14bleomycin45 1110.5AFP, TGFB1
15butyrate459.5AFP, TGFB1, IFNG
16paraffin459.5AFP, PTCH1, TGFB1
17actinomycin d459.5IFNG, TGFB1, AFP
18carboplatin45 51 1111.4IFNG, DSCAM, AFP
19thalidomide45 51 61 1112.4IFNG, AFP
20thymidine45 2410.3IFNG, TGFB1, AFP
21paclitaxel45 51 1111.3AFP, TGFB1, DSCAM

GO Terms for genes affiliated with Cystic Lymphangioma

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16Gene Ontology
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Cellular components related to Cystic Lymphangioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-gated channel complexGO:0058929.9CHRNG, CHRND

Biological processes related to Cystic Lymphangioma according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069369.9CHRNG, CHRND
2protein import into nucleus, translocationGO:0000609.8IFNG, TGFB1
3extrinsic apoptotic signaling pathwayGO:0971919.8IFNG, TGFB1
4regulation of membrane potentialGO:0423919.8CHRNG, CHRND
5negative regulation of epithelial cell proliferationGO:0506809.7TGFB1, PTCH1
6transportGO:0068109.6CHRNG, CHRND, AFP
7response to estradiolGO:0323559.4TGFB1, PTCH1
8response to drugGO:0424939.3PTCH1, TGFB1, IFNG

Molecular functions related to Cystic Lymphangioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-activated cation-selective channel activityGO:0048899.9CHRNG, CHRND

Products for genes affiliated with Cystic Lymphangioma

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Sources for Cystic Lymphangioma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet