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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Sources:
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, 42NIH Rare Diseases, 10DISEASES, 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
Retroperitoneal cystic lymphangioma: a diagnostic and surgical challenge. (23533897)
2013
2
Intestinal obstruction complicating a mesenteric cystic lymphangioma. (22795361)
2012
3
Cystic adrenal lymphangioma--report of two cases and review of the literature. (23139985)
2012
4
Giant cystic lymphangioma of the mesentery: varied clinical presentation of 3 cases. (22826732)
2012
5
Cystic lymphangioma of the kidney: Diagnosis and management. (22963798)
2012
6
Cystic lymphangioma of the pancreas with spontaneous rupture: report of a case. (21712979)
2011
7
Mesenteric cystic lymphangioma associated with intestinal malrotation in a newborn. (22145299)
2011
8
Cystic lymphangioma of the pancreas. (22066114)
2011
9
Laparoscopic resection of a retroperitoneal cystic lymphangioma in an adult. (20551789)
2010
10
Cervical cystic lymphangioma in a patient with blue rubber bleb nevus syndrome: clinical case report and review of the literature. (21035709)
2010
11
Cystic lymphangioma scroti: a common tumor at a rare location. (21060188)
2010
12
Cystic Lymphangioma of the Breast: Magnetic Resonance Imaging Features. (22590445)
2010
13
Solitary intrapulmonary cystic lymphangioma in an infant: a case report with literature review. (20952134)
2010
14
Cystic lymphangioma of the breast in a 6-year-old boy. (19853765)
2009
15
Pancreatic cystic lymphangioma: report of a case. (19821208)
2009
16
Acquired omental cystic lymphangioma after subtotal gastrectomy: a case report. (19949686)
2009
17
Cystic lymphangioma of the gallbladder: report of a case. (18085372)
2008
18
Cystic lymphangioma of the pancreas. (19058318)
2008
19
Broad ligament cystic lymphangioma: a case report. (18811950)
2008
20
Prenatal ultrasonographic diagnosis of abdominal cystic lymphangioma: a case report. (18609355)
2008
21
Endoscopic ultrasound evaluation of a cystic lymphangioma of the colon. (18029936)
2007
22
Total laparoscopic excision of retroperitoneal cystic lymphangioma. (17004884)
2006
23
Asymptomatic solitary mediastinal cystic lymphangioma: a rare entity. (17130322)
2006
24
Mediastinal cystic lymphangioma. (17301927)
2006
25
Retroperitoneal cystic lymphangioma. (15932454)
2005
26
Cystic lymphangioma associated with enteric duplication as a cause of recurrent vomiting. (15975542)
2005
27
MR imaging and ultrasound of fetal cervical cystic lymphangioma: utility in antepartum treatment planning. (15957094)
2005
28
An infant with asymmetric crying facies and cystic lymphangioma. (12139146)
2002
29
Huge cystic lymphangioma of the pancreas: report of a case. (11510617)
2001
30
Cystic lymphangioma of the retroperitoneum. (11222077)
2001
31
Cystic lymphangioma of the small-bowel mesentery: case report and a review of the literature. (10936792)
2000
32
Cystic lymphangioma with special reference to rare sites. (10885205)
2000
33
Cystic lymphangioma in an asymptomatic newborn: an uncommon localization in the ileum. (10204513)
1999
34
Mediastinal cystic lymphangioma: report of two cases. (9323827)
1997
35
Laparoscopic resection of a giant mesenteric cystic lymphangioma. (9195174)
1997
36
Cystic lymphangioma of the spleen: MR findings with pathologic correlation. (7894308)
1995
37
A case of abdominal cystic lymphangioma: cobweb appearance on ultrasonography. (1626059)
1992
38
Cystic lymphangioma in the adult parotid. (1624901)
1992
39
Pediatric case of the day. Cystic lymphangioma (omental cyst). (1749857)
1991
40
Retrocrural cystic lymphangioma. (3905290)
1985
41
Cystic lymphangioma of the colon. Report of a case and review of the literature. (6489077)
1984
42
Cystic lymphangioma of the colon. (6604423)
1983
43
Cystic lymphangioma of the spleen. Report of CT scan findings. (7099749)
1982
44
Recurrent massive cystic lymphangioma. (114944)
1978
45
Symptomatic venous compression from a mediastinal cystic lymphangioma. (4574172)
1973
46
Pedunculated cystic lymphangioma of the splenocolic ligament in a child. (5056903)
1972
47
Lymphangioma in the inguinal region with cystic lymphangiomatosis of bone. (6046622)
1967
48
A CASE OF CYSTIC LYMPHANGIOMA IN THE PELVIC MESOCOLON. (14263415)
1964
49
Cystic lymphangioma of the mesentery. (Case report). (13944448)
1963
50
Cystic lymphangioma of the parotid region. (14417246)
1960

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