MCID: CYS002
MIFTS: 49

Cystic Lymphangioma malady

Cardiovascular, Skin, Fetal, Cancer, Immune categories

Summaries for Cystic Lymphangioma

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 fetal akinesia deformation sequence. 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 spleen, heart and small intestine, and related mouse phenotypes are respiratory system and muscle.

Description from OMIM:47 257350

Aliases & Classifications for Cystic Lymphangioma

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 49Orphanet, 47OMIM, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Cardiovascular, Skin, Immune


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 61


External Ids:

Disease Ontology8 DOID:3081
MeSH35 D018191
NCIt40 C3724
OMIM47 257350
ICD10 via Orphanet26 D18.1
SNOMED-CT via Orphanet58 399882002

Related Diseases for Cystic Lymphangioma

Sources:
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

Sources:
47OMIM
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Clinical features from OMIM:

257350

Drugs & Therapeutics for Cystic Lymphangioma

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Cystic Lymphangioma

Sources:
33MalaCards
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MalaCards organs/tissues related to Cystic Lymphangioma:

33
Spleen, Heart, Small intestine, Colon, Kidney, Liver, Lung, Pancreas, Thyroid, Adrenal gland, Breast, Uterus, Testis, Endothelial, Tongue, Fetal liver, Fetal lung, Fetal thyroid

Animal Models for Cystic Lymphangioma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Cystic Lymphangioma

Sources:
51PubMed
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Articles related to Cystic Lymphangioma:

(show top 50)    (show all 385)
idTitleAuthorsYear
1
Pericardial cystic lymphangioma. (23034994)
2013
2
Recurrence of a pancreatic cystic lymphangioma after diagnosis and complete drainage by endoscopic ultrasound with fine-needle aspiration. (23669480)
2013
3
Cystic lymphangioma-like adenomatoid tumor of the adrenal gland: report of a rare case and review of the literature. (23638228)
2013
4
Huge cystic lymphangioma of the pancreas mimicking pancreatic cystic neoplasm. (23197988)
2012
5
Cystic pancreatic lymphangioma. (22826784)
2012
6
Cystic adrenal lymphangioma--report of two cases and review of the literature. (23139985)
2012
7
Retroperitoneal cystic lymphangioma in a patient with previous surgery for seminoma. A case report. (23399992)
2012
8
Extended pancreaticoduodenectomy for a huge cystic-cavernous lymphangioma: a case report. (22572134)
2012
9
A case of laparoscopic excision of a huge retroperitoneal cystic lymphangioma. (22606623)
2011
10
Cavernous lymphangioma arising in the chest wall 19 years after excision of a cystic hygroma. (22263194)
2011
11
Mesenteric cystic lymphangioma associated with intestinal malrotation in a newborn. (22145299)
2011
12
Giant cystic lymphangioma in childhood: a rare differential for the acute abdomen. (22693276)
2011
13
Cervical cystic lymphangioma in a patient with blue rubber bleb nevus syndrome: clinical case report and review of the literature. (21035709)
2010
14
Unilocular cystic lymphangioma of thigh-an extremely rare clinical entity. (21966148)
2010
15
Cystic lymphangioma of the mesocolon. (20221854)
2010
16
Giant mesenteric cystic lymphangioma in an infant presenting with acute bowel obstruction. (19503641)
2009
17
Mesenteric cystic lymphangioma treated with laparoscopic excision: case report and review of the literature. (19735616)
2009
18
Cystic lymphangioma of the pancreas. (19058318)
2008
19
Broad ligament cystic lymphangioma: a case report. (18811950)
2008
20
US, CT and MRI findings in a case of diffuse lymphangiomatosis and cystic hygroma. (23396953)
2008
21
Cystic lymphangioma of the neck in adults: a report of three cases. (18500600)
2008
22
Cystic lymphangioma of the mesentery and hyposplenism in celiac disease. (18049176)
2007
23
Cystic lymphangioma of the mesentery causing intestinal obstruction. (17909661)
2007
24
Gastrointestinal: mesenteric cystic lymphangioma. (16704547)
2006
25
Total laparoscopic excision of retroperitoneal cystic lymphangioma. (17004884)
2006
26
Cystic lymphangioma arising in the tip of the tongue in an adult. (16185846)
2006
27
Intra-abdominal cystic lymphangioma. (16647365)
2006
28
Cystic lymphangioma associated with enteric duplication as a cause of recurrent vomiting. (15975542)
2005
29
Giant cystic lymphangioma of the middle mediastinum. (12715936)
2003
30
An infant with asymmetric crying facies and cystic lymphangioma. (12139146)
2002
31
Huge cystic lymphangioma of the pancreas: report of a case. (11510617)
2001
32
Cystic lymphangioma with special reference to rare sites. (10885205)
2000
33
Retro-peritoneal cystic lymphangioma in association with fetal hydantoin syndrome. (10798073)
1999
34
Cystic lymphangioma of the pancreas: CT and pathologic findings. (9437068)
1998
35
Cystic lymphangioma and plunging ranula treated by OK-432 therapy: a report of two cases. (8203228)
1994
36
A case of cystic lymphangioma of the pancreas. (8061809)
1994
37
A case of abdominal cystic lymphangioma: cobweb appearance on ultrasonography. (1626059)
1992
38
Injection of bleomycin as a primary therapy of cystic lymphangioma. (1381746)
1992
39
CT and MR imaging in cystic abdominal lymphangiomatosis. (2656785)
1989
40
Hyponatremia resulting from loss of lymphatic fluid in an infant with cystic lymphangioma. (3723245)
1986
41
Cervical bruises--a battered child? Cystic lymphangioma. (3740889)
1986
42
Retrocrural cystic lymphangioma. (3905290)
1985
43
Abdominal cystic lymphangiomatosis: report of a case and review of the literature. (4063699)
1985
44
Sonographic appearance of an abdominal cystic lymphangioma. (6699930)
1984
45
Cystic lymphangioma of the colon. (6604423)
1983
46
Retroperitoneal cystic lymphangioma. (6601379)
1983
47
Recurrent massive cystic lymphangioma. (114944)
1978
48
Cystic lymphangioma of the mediastinum and the small bowel: a case report and a review of literature. (913723)
1977
49
Cystic lymphangioma of the parotid region. (14417246)
1960
50
Cystic lymphangioma of the mesentery; review of the literature and report of a case. (13487066)
1958

Genetic Variations for Cystic Lymphangioma

Expression for genes affiliated with Cystic Lymphangioma

Sources:
1BioGPS, 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

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 52QIAGEN
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Compounds for genes affiliated with Cystic Lymphangioma

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Cystic Lymphangioma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acyclovir45 1110.8AFP, IFNG
2galantamine45 50 1111.8CHRNB1, CHRND, CHRNG
3tranilast459.8TGFB1, IFNG
4pirfenidone45 6010.5TGFB1, IFNG
5carboplatin45 50 1111.2IFNG, AFP, DSCAM

GO Terms for genes affiliated with Cystic Lymphangioma

Sources:
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:0300549.4CHRNG, CHRNB1, RAPSN, CHRND
3postsynaptic membraneGO:0452119.1CHRND, CHRNB1, RAPSN, CHRNG

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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  • Proteins
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  • Antibodies

Sources for Cystic Lymphangioma

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet