MCID: CYS002
MIFTS: 45

Cystic Lymphangioma malady

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases, Cancer diseases, Immune diseases

Aliases & Classifications for Cystic Lymphangioma

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Aliases & Descriptions for Cystic Lymphangioma:

Name: Cystic Lymphangioma 11 46 13
Cystic Hygroma 11 46 25
Macrocystic Lymphatic Malformation 46 52
Lymphangioma, Cystic 37 66
 
Cavernous Lymphatic Malformation 52
Macrocystic Lymphangioma 52
Cavernous Lymphangioma 52

Characteristics:

Orphanet epidemiological data:

52
macrocystic lymphatic malformation:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:3081
MeSH37 D018191
NCIt43 C3724
Orphanet52 ORPHA79489
ICD10 via Orphanet29 D18.1

Summaries for Cystic Lymphangioma

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NIH Rare Diseases:46 Cystic hygroma (meaning “moist tumor”) or macrocystic lymphatic malformation, is a fluid-filled sac that result from a blockage in the lymphatic system. a cystic hygroma may be discovered in a fetus during a pregnancy ultrasound (fetal cystic hygroma), present as a birth defect (congenital) in a newborn as a large, soft mass covered by normal skin, or it may not become evident until later in life. they are most commonly located in the neck, head, axilla, or chest but can be anywhere in the body. the causes include environmental factors, genetic factors, or unknown factors. about 50% of the fetal cystic hygromas are due to a chromosomal abnormality such as turner syndrome, down syndrome or noonan syndrome. they can be isolated or be associated with other birth defect, as part of a syndrome. isolated cystic hygroma may be inherited as an autosomal recessive disorder.. in adults they may result from delayed proliferation of the congenital or acquired lymphoid rests following trauma or earlier respiratory infections. the preferred treatment is the surgical removal of the tumor. other treatment may include serial thoracocentesis plus paracentesis, laser surgery and radiation therapy.  last updated: 2/26/2016

MalaCards based summary: Cystic Lymphangioma, also known as cystic hygroma, is related to cavernous lymphangioma and abdominal cystic lymphangioma, and has symptoms including pain of lymph node An important gene associated with Cystic Lymphangioma is IFNG (Interferon Gamma), and among its related pathways are PDGFR-alpha signaling pathway and Glucocorticoid receptor regulatory network. Affiliated tissues include pancreas, skin and colon, and related mouse phenotype muscle.

Related Diseases for Cystic Lymphangioma

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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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UMLS symptoms related to Cystic Lymphangioma:


pain of lymph node

Drugs & Therapeutics for Cystic Lymphangioma

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Drugs for Cystic Lymphangioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PancrelipasePhase 091753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
2pancreatinPhase 0917

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Picibanil (OK432) Sclerotherapy in Children With Macrocystic Lymphatic MalformationsCompletedNCT00010452Phase 2, Phase 3
2AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome)RecruitingNCT02250456
3Needle-based Confocal Laser Endomicroscopy on Pancreatic Cystic LesionsRecruitingNCT02494388Phase 0

Search NIH Clinical Center for Cystic Lymphangioma


Cochrane evidence based reviews: lymphangioma, cystic

Genetic Tests for Cystic Lymphangioma

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Genetic tests related to Cystic Lymphangioma:

id Genetic test Affiliating Genes
1 Cystic Hygroma25

Anatomical Context for Cystic Lymphangioma

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MalaCards organs/tissues related to Cystic Lymphangioma:

34
Pancreas, Skin, Colon, Spleen, Breast, Adrenal gland, Lymph node

Animal Models for Cystic Lymphangioma or affiliated genes

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MGI Mouse Phenotypes related to Cystic Lymphangioma:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2CHRNG, DOK7, IFNG, NODAL, PIK3CA

Publications for Cystic Lymphangioma

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Articles related to Cystic Lymphangioma:

(show top 50)    (show all 398)
idTitleAuthorsYear
1
CT Appearance of Adrenal Cystic Lymphangioma: Radiologic-Pathologic Correlation. (26700338)
2016
2
A sudden pain in the neck: an atypical presentation of cystic lymphangioma. (25795753)
2015
3
Treatment of cystic lymphangioma by transcatheter lymphatic sclerotherapy and embolization. (25735533)
2015
4
Identification of a pediatric intra-abdominal cystic lymphangioma using point-of-care ultrasonography. (25560624)
2015
5
Unusual sites of cystic lymphangioma in children. (25282458)
2014
6
An unusual cause of abdominal pain: duodenal cystic lymphangioma. (23961273)
2013
7
Cystic fibrosis and retroperitoneal cystic lymphangioma: a novel match. (22273284)
2012
8
A case of laparoscopic excision of a huge retroperitoneal cystic lymphangioma. (22606623)
2011
9
Cystic lymphangioma of the pancreas with congenital intrahepatic duct dilatation and choledochal cyst. (21213336)
2011
10
Cystic lymphangioma of the pancreas with spontaneous rupture: report of a case. (21712979)
2011
11
Cystic lymphangioma of the pancreas: diagnostic and therapeutic challenges. (21068498)
2010
12
Cystic lymphangioma-like adenomatoid tumor of the adrenal gland: Case presentation and review of the literature. (19851133)
2009
13
Fetal cystic lymphangioma of the neck: a case report. (22439033)
2009
14
Cystic lymphangioma of the gallbladder: report of a case. (18085372)
2008
15
Lingual cystic lymphangioma in an elderly patient. (19052498)
2008
16
Cystic lymphangioma of the lesser sac presenting as acute appendicitis: A case report. (18783617)
2008
17
Retroperitoneal cystic lymphangioma. (23133047)
2008
18
Cystic lymphangioma of the leg in a child with agenesis of testis. (17989641)
2007
19
Non surgical management of cystic lymphangioma. (23120346)
2006
20
Two cases of cystic lymphangioma of the pancreas: a rare finding in endoscopic ultrasonography. (17366391)
2006
21
Gastrointestinal: mesenteric cystic lymphangioma. (16704547)
2006
22
Total laparoscopic excision of retroperitoneal cystic lymphangioma. (17004884)
2006
23
Hepatobiliary and pancreatic: Cystic lymphangioma of the pancreas. (16638110)
2006
24
Cystic lymphangioma of the breast. (16297123)
2005
25
Retroperitoneal cystic lymphangioma. (15932454)
2005
26
Cystic lymphangioma of the greater omentum and ascites: an unusual combination. (15386458)
2004
27
Mesenteric cystic lymphangioma causing intestinal occlusion in an adult patient. (14722994)
2003
28
Asymptomatic adult cystic lymphangioma of the spleen: case report and review of the literature. (12620551)
2003
29
Cystic lymphangioma of the pancreas: anatomoclinical, diagnostic and therapeutic considerations regarding three personal observations and review of the literature. (14571816)
2003
30
Giant cystic lymphangioma of the stomach. (11841086)
2001
31
Huge cystic lymphangioma of the pancreas: report of a case. (11510617)
2001
32
Abdominal cystic lymphangioma in a woman at 14 weeks' gestation: case report. (11055491)
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
Progressive fetal axillary cystic lymphangioma with coexistent naevus flammeus. (9039304)
1997
36
Radiology/pathology conference: mesenteric cystic lymphangioma. (8692443)
1996
37
Cystic lymphangioma of the transverse colon: report of a case and review of the literature. (8832861)
1996
38
Laparoscopic resection of a retroperitoneal cystic lymphangioma. (7878511)
1994
39
Laparoscopic observation of retroperitoneal cystic lymphangioma. (8003655)
1994
40
Case report: giant tuberculous cystic lymphangioma of posterior mediastinum, retroperitoneum and groin. (8143418)
1994
41
Cystic lymphangioma of the kidney: a rare cause of multiloculated renal masses. (1999216)
1991
42
Abdominal cystic lymphangioma. A case report and a review of the literature. (2180901)
1990
43
Sonographic appearance of an abdominal cystic lymphangioma. (6699930)
1984
44
Cystic lymphangioma of the colon. Report of a case and review of the literature. (6489077)
1984
45
Recurrent massive cystic lymphangioma. (114944)
1978
46
Solitary cystic lymphangioma of the retroperitoneum. (904040)
1977
47
Cystic lymphangioma of the mediastinum and the small bowel: a case report and a review of literature. (913723)
1977
48
Case report: Cystic lymphangioma of the vallecula. (1131722)
1975
49
Ureteral obstruction due to retroperitoneal lymphatic cyst (cystic lymphangioma). (13655395)
1959
50
Cystic lymphangioma of lungs as result of relapsing tensional pneumothorax]. (13039085)
1952

Variations for Cystic Lymphangioma

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Cosmic variations for Cystic Lymphangioma:

8
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM584NRASskin,neck,benign melanocytic nevus,congenitalc.182A>Gp.Q61R0

Expression for genes affiliated with Cystic Lymphangioma

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Search GEO for disease gene expression data for Cystic Lymphangioma.

Pathways for genes affiliated with Cystic Lymphangioma

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GO Terms for genes affiliated with Cystic Lymphangioma

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Cellular components related to Cystic Lymphangioma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-gated channel complexGO:00058929.5CHRND, CHRNG
2cell junctionGO:00300548.6CHRND, CHRNG, DOK7

Biological processes related to Cystic Lymphangioma according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1SMAD protein signal transductionGO:006039510.0AFP, NODAL
2vasculature developmentGO:00019449.8NODAL, PIK3CA
3synaptic transmission, cholinergicGO:00072719.5CHRND, CHRNG
4cation transmembrane transportGO:00986559.4CHRND, CHRNG
5neuromuscular synaptic transmissionGO:00072749.4CHRND, CHRNG
6liver developmentGO:00018899.1AFP, NODAL, PIK3CA
7chemical synaptic transmission, postsynapticGO:00995659.0CHRND, CHRNG
8response to nicotineGO:00350948.7CHRND, CHRNG
9transportGO:00068108.6AFP, CHRND, CHRNG

Molecular functions related to Cystic Lymphangioma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:00154649.2CHRND, CHRNG
2acetylcholine-activated cation-selective channel activityGO:00048899.2CHRND, CHRNG
3acetylcholine bindingGO:00421669.2CHRND, CHRNG
4ligand-gated ion channel activityGO:00152769.0CHRND, CHRNG

Sources for Cystic Lymphangioma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet