MCID: CYS002
MIFTS: 53

Cystic Lymphangioma malady

Cardiovascular diseases, Skin diseases, Fetal diseases, Cancer diseases, Immune diseases categories

Summaries for Cystic Lymphangioma

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 oligohydramnios and multiple pterygium syndrome lethal type. An important gene associated with Cystic Lymphangioma is CLIC2 (chloride intracellular channel 2), and among its related pathways are Presynaptic nicotinic acetylcholine receptors and Cytokines and Inflammatory Response. The compounds acyclovir and galantamine have been mentioned in the context of this disorder. Affiliated tissues include testes, pancreas and colon, and related mouse phenotypes are respiratory system and muscle.

Description from OMIM:46 257350

Aliases & Classifications for Cystic Lymphangioma

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8Disease Ontology, 10DISEASES, 42NIH Rare Diseases, 48Orphanet, 46OMIM, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
cystic hygroma:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

cystic lymphangioma 8 10
cystic hygroma 8 42 48 46
lymphangioma, cystic 60


External Ids:

Disease Ontology8 DOID:3081
MeSH34 D018191
NCIt39 C3724
OMIM46 257350
ICD10 via Orphanet26 D18.1
SNOMED-CT via Orphanet57 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

Clinical Features for Cystic Lymphangioma

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46OMIM
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Clinical features from OMIM:

257350

Drugs & Therapeutics for Cystic Lymphangioma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Anatomical Context for Cystic Lymphangioma

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32MalaCards
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MalaCards organs/tissues related to Cystic Lymphangioma:

32
Testes, Pancreas, Colon, Spleen, Breast, Adrenal gland, Skin, Tongue, Kidney, Uterus, Testis, Thyroid, Lung, Liver, Heart, Bone

Animal Models for Cystic Lymphangioma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cystic Lymphangioma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.5IFNG, CHRNG, DSCAM, RAPSN, PTCH1, TGFB1
2MP:00053698.5IFNG, CHRNG, DSCAM, RAPSN, PTCH1, TGFB1
3MP:00053808.0CHRNG, VEZF1, HIRA, PTCH1, TGFB1, IFNG
4MP:00053828.0TGFB1, PTCH1, HIRA, DSCAM, VEZF1, IFNG
5MP:00036317.6IFNG, CHRNG, CHRNB1, DSCAM, HIRA, RAPSN
6MP:00107686.7IFNG, AFP, CHRNG, VEZF1, DSCAM, HIRA

Publications for Cystic Lymphangioma

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50PubMed
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Articles related to Cystic Lymphangioma:

(show top 50)    (show all 362)
idTitleAuthorsYear
1
An unusual cause of abdominal pain: duodenal cystic lymphangioma. (23961273)
2013
2
Peripancreatic cystic lymphangioma diagnosed by endoscopic ultrasound/fine-needle aspiration: a rare mesenchymal tumour. (24092605)
2013
3
Rare case of a solitary huge hepatic cystic lymphangioma. (24303489)
2013
4
Acute onset of mediastinal cystic lymphangioma in the puerperium. (24052161)
2013
5
Cystic lymphangioma of jejunal mesentery mimicking acute appendicitis: case report. (23837284)
2013
6
Cystic fibrosis and retroperitoneal cystic lymphangioma: a novel match. (22273284)
2012
7
Retroperitoneal cystic lymphangioma in a patient with previous surgery for seminoma. A case report. (23399992)
2012
8
Iatrogenic infection of a colonic cystic lymphangioma following cold-forceps biopsy. (22477167)
2012
9
Giant cystic lymphangioma of the small bowel mesentery: case report. (22145071)
2011
10
Splenic cystic lymphangioma in a young woman: case report and literature review. (21861320)
2011
11
Cystic retroperitoneal lymphangioma. (20557520)
2010
12
Cystic lymphangioma of the lesser omentum in an adult. (19837386)
2010
13
Management of cystic lymphangioma in the head and neck region: endoscopic cautery and postoperative intratumoral negative pressure. (21119446)
2010
14
Retroperitoneal cystic lymphangioma: a rare presentation in childhood, treated laparoscopically. (19215217)
2009
15
Cystic lymphangioma of the colon. (20177865)
2009
16
Cervical cystic lymphangioma in an adult, diagnosed on FNAC. (21938186)
2009
17
Calcified cystic lymphangioma of the mesentery: case report. (19842875)
2009
18
Lingual cystic lymphangioma in an elderly patient. (19052498)
2008
19
Cystic lymphangioma of the pancreas. (17368224)
2007
20
Cystic lymphangioma of the leg in a child with agenesis of testis. (17989641)
2007
21
Isolated mediastinal cystic lymphangioma in a child. (18023696)
2007
22
Surgery for cystic lymphangioma in Gorlin-Goltz syndrome. (17221269)
2007
23
Non surgical management of cystic lymphangioma. (23120346)
2006
24
Cystic lymphangioma of the right adrenal gland. (16388322)
2005
25
Colonic cystic lymphangioma. (15229435)
2004
26
The association of jejunal atresia and cystic lymphangioma in the same location. (12891508)
2003
27
Antepartum assessment of fetal cystic lymphangioma by magnetic resonance imaging. (12186991)
2002
28
Cystic lymphangioma of the neck in an infant: US and CT evaluation. (12107392)
2002
29
Cystic lymphangioma of the pancreas. (11641176)
2001
30
Abdominal cystic lymphangioma in a woman at 14 weeks' gestation: case report. (11055491)
2000
31
Images in clinical urology. Cystic lymphangioma of the retroperitoneum. (10688095)
2000
32
Preoperative diagnosis of cystic lymphangioma of the colon by endoscopic ultrasound. (9041015)
1997
33
Retroperitoneal cystic lymphangioma: report of one case. (9297935)
1997
34
Intrapulmonary cystic lymphangioma. (8893260)
1996
35
Cystic lymphangioma of the gall-bladder: a case report. (8580416)
1995
36
Prenatal diagnosis and management of massive bilateral axillary cystic lymphangioma. (7724136)
1995
37
Cystic lymphangioma of the colon: ultrasonographic and computed tomographic features. (7704677)
1995
38
Laparoscopic resection of a retroperitoneal cystic lymphangioma. (7878511)
1994
39
Small bowel obstruction caused by recurrent cystic lymphangioma. (8402051)
1993
40
A case of giant cystic lymphangioma of the neck with fatal outcome in a neonate. (3320032)
1987
41
Nonparasitic true splenic cyst--case report of cystic lymphangioma of spleen. (3482893)
1986
42
Prenatal diagnosis of cystic lymphangioma by ultrasound. (3912383)
1985
43
Mandibulo-facial aspects of the cervical cystic lymphangioma (cystic hygroma). (281243)
1978
44
Cystic lymphangioma with enlarged tongue: a case report. (266844)
1977
45
Cystic lymphangioma in the maxillary sinus: a case report. (1066155)
1976
46
Cystic lymphangioma of the mediastinum. (13828795)
1960
47
Retroperitoneal lymphatic cyst (cystic lymphangioma). (13399094)
1957
48
Retroperitoneal cystic lymphangioma; report of a case. (13277035)
1955
49
TRUE PROLIFERATING CYSTIC LYMPHANGIOMA OF THE MESENTERY. (17856748)
1936
50
CYSTIC LYMPHANGIOMA OF THE GREATER OMENTUM. (17865818)
1928

Genetic Variations for Cystic Lymphangioma

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Expression for genes affiliated with Cystic Lymphangioma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cystic Lymphangioma

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Pathways for genes affiliated with Cystic Lymphangioma

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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN
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Compounds for genes affiliated with Cystic Lymphangioma

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44Novoseek, 11DrugBank, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Cystic Lymphangioma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acyclovir44 1110.8AFP, IFNG
2galantamine44 49 1111.8CHRNB1, CHRND, CHRNG
3tranilast449.8TGFB1, IFNG
4pirfenidone44 5910.5TGFB1, IFNG
5carboplatin44 49 1111.2IFNG, AFP, 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:0058929.6CHRNB1, CHRND, CHRNG
2cell junctionGO:0300549.4RAPSN, CHRNB1, CHRND, CHRNG
3postsynaptic membraneGO:0452119.1CHRNG, CHRND, CHRNB1, RAPSN

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

idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, cholinergicGO:0072719.9RAPSN, CHRNB1
2regulation of membrane potentialGO:0423919.8CHRNB1, CHRND, CHRNG
3extrinsic apoptotic signaling pathwayGO:0971919.8TGFB1, IFNG
4muscle contractionGO:0069369.7CHRNG, CHRND, CHRNB1
5transportGO:0068109.5CLIC2, CHRND, CHRNG, AFP
6protein import into nucleus, translocationGO:0000609.5TGFB1, IFNG

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:01546410.0CHRNB1, CHRNG
2channel activityGO:0152679.9CHRNB1, CHRNG
3acetylcholine-activated cation-selective channel activityGO:0048899.7CHRNB1, CHRND, CHRNG
4acetylcholine bindingGO:0421669.7CHRNB1, CHRND

Products for genes affiliated with Cystic Lymphangioma

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Sources for Cystic Lymphangioma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet