MCID: CYS002
MIFTS: 44

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 48 13
Cystic Hygroma 11 48 27
Macrocystic Lymphatic Malformation 48 54
Cavernous Lymphangioma 54 68
 
Lymphangioma, Cystic 39 68
Cavernous Lymphatic Malformation 54
Macrocystic Lymphangioma 54

Characteristics:

Orphanet epidemiological data:

54
macrocystic lymphatic malformation:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:3081
MeSH39 D018191
NCIt45 C3724
Orphanet54 ORPHA79489
ICD10 via Orphanet31 D18.1

Summaries for Cystic Lymphangioma

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NIH Rare Diseases:48 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, colon and spleen, and related mouse phenotypes are Increased HPV16-GFP infection and muscle.

Related Diseases for Cystic Lymphangioma

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Diseases related to Cystic Lymphangioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1cavernous lymphangioma12.2
2abdominal cystic lymphangioma12.2
3cystic hygroma lethal cleft palate12.0
4nuchal bleb, familial12.0
5mixed cystic lymphatic malformation10.9
6lymphangioma10.9
7calcaneonavicular coalition10.3IFNG, PIK3CA
8stampe sorensen syndrome10.2IFNG, PIK3CA
9mediastinitis10.2
10lymphatic malformations10.2
11anus adenocarcinoma10.2AFP, PIK3CA
12pancreatitis10.2
13atypical lipomatous tumor10.1AFP, NODAL
14cervicitis10.1
15taylor's syndrome10.1AFP, IFNG
16hypertrichosis of eyelid10.1AFP, NODAL
17primary angle-closure glaucoma10.0AFP, CHRNG
18gallbladder papillomatosis10.0AFP, PIK3CA
19appendicitis10.0
20perianal skin paget's disease9.9AFP, IFNG
21duodenitis9.9
22multiple system atrophy, parkinsonian type9.9CHRND, DOK7
23myelofibrosis9.8CHRNG, DOK7
24hepatitis9.8
25cystic teratoma9.8
26teratoma9.8
27adenomatoid tumor9.8
28intestinal obstruction9.8
29intussusception9.8
30hemangioendothelioma9.8
31splenomegaly9.8
32granulomatous dermatitis9.7CHRND, DOK7
33inverted transitional papilloma9.7DOK7, FLVCR2, NODAL
34hodgkin lymphoma9.6
35celiac disease9.6
36cystic fibrosis9.6
37blue rubber bleb nevus9.6
38jejunal atresia9.6
39hemangioma9.6
40lymphoma9.6
41esophagitis9.6
42hiatus hernia9.6
43urethritis9.6
44pneumothorax9.6
45seminoma9.6
46ureteral obstruction9.6
47subacute thyroiditis9.6
48thyroiditis9.6
49peritonitis9.6
50choledochal cyst9.6

Graphical network of the top 20 diseases related to Cystic Lymphangioma:



Diseases related to cystic lymphangioma

Symptoms & Phenotypes for Cystic Lymphangioma

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UMLS symptoms related to Cystic Lymphangioma:


pain of lymph node

GenomeRNAi Phenotypes related to Cystic Lymphangioma according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00350-A9.7AFP, CHRNG, PIK3CA

MGI Mouse Phenotypes related to Cystic Lymphangioma according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2CHRNG, DOK7, IFNG, NODAL, PIK3CA

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
1PicibanilPhase 2, Phase 37
2
PancrelipaseapprovedEarly Phase 193553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
3pancreatinEarly Phase 1935

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 LesionsRecruitingNCT02494388Early Phase 1

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 Hygroma27

Anatomical Context for Cystic Lymphangioma

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MalaCards organs/tissues related to Cystic Lymphangioma:

36
Pancreas, Colon, Spleen, Breast, Adrenal gland, Lymph node, Tongue

Publications for Cystic Lymphangioma

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Articles related to Cystic Lymphangioma:

(show top 50)    (show all 399)
idTitleAuthorsYear
1
CT Appearance of Adrenal Cystic Lymphangioma: Radiologic-Pathologic Correlation. (26700338)
2016
2
Splenic cystic lymphangioma. (27318865)
2016
3
Splenic cystic lymphangioma with atypical ultrasound findings. (26703174)
2016
4
Giant retroperitoneal cystic lymphangioma in a patient with Eisenmenger syndrome. (26590885)
2016
5
Volvulus of the jejunum on cystic lymphangioma: About a clinical case. (27251660)
2016
6
Giant cystic lymphangioma originating from the cardia of the stomach: A case report. (27168832)
2016
7
Cystic Lymphangioma of Pancreas. (27065694)
2016
8
Case Report: Multivisceral Transplantation for an Extensive Cystic Lymphangioma of the Mesenteric Root. (27109997)
2016
9
Emergency presentation of cystic lymphangioma of the colon: A case report and literature review. (27266826)
2016
10
Utility of conservative treatment in cystic lymphangioma. (27087134)
2016
11
Adult cystic lymphangioma in the inner quadrant of the breast-Rare location for a rare disease: A case report. (26852362)
2016
12
Cystic Lymphangioma of the Pancreas: a Rare Entity. (27334312)
2016
13
Laparoscopic Treatment of Intraabdominal Cystic Lymphangioma. (27452935)
2016
14
Drop-Attacks Revealing a Cervical Cystic Lymphangioma. (26620381)
2016
15
Diagnosis of cystic lymphangioma of the colon by endoscopic ultrasound: Biopsy is not needed! (27803907)
2016
16
A sudden pain in the neck: an atypical presentation of cystic lymphangioma. (25795753)
2015
17
Treatment of cystic lymphangioma by transcatheter lymphatic sclerotherapy and embolization. (25735533)
2015
18
Identification of a pediatric intra-abdominal cystic lymphangioma using point-of-care ultrasonography. (25560624)
2015
19
Thoracic Cystic Lymphangioma in an Elderly Patient. (25800326)
2015
20
Laparoscopic resection of a huge retroperitoneal cystic lymphangioma after successful reduction of tumor size with a double balloon catheter. (25898335)
2015
21
Cystic lymphangioma: A differential diagnosis. (26980972)
2015
22
Two unusual sites of cystic lymphangioma in a child: A report of imaging profile with surgical and histopathologic findings. (26436083)
2015
23
Adrenal cystic lymphangioma presented with hypertension: a case report. (26034745)
2015
24
A giant abdominal cystic tumour: Mesentery cystic lymphangioma. (26143717)
2015
25
Unusual Presentation of Giant Omental Cystic Lymphangioma Mimicking Haemorrhagic Ascites in a Child. (26704862)
2015
26
Hemorrhagic giant cystic lymphangioma of the liver in an adult female. (25832463)
2015
27
A Case of Mediastinal Cystic Lymphangioma. (26690247)
2015
28
Bilateral Cystic Lymphangioma of Ovary Associated with Chylous Ascites. (26435959)
2015
29
Adrenal Cystic Lymphangioma. (26426195)
2015
30
Intra-abdominal cystic lymphangioma in an adult female masquerading ovarian tumor. (26905145)
2015
31
Rare Tumors, Rare Association: Ovarian Strumal Carcinoid - Retroperitoneal Cystic Lymphangioma. (26158742)
2015
32
Incidental Cystic Lymphangioma of the Small Bowel Mesentery. (26605129)
2015
33
Enlarging cystic lymphangioma of the mediastinum in an adult: is this a neoplastic lesion related to the recently discovered PIK3CA mutation? (26191320)
2015
34
Pancreatic cystic lymphangioma diagnosed with endoscopic ultrasonographic-fine needle aspiration; a rare mesenchymal tumor. (26448423)
2015
35
Cystic lymphangioma of the adrenal gland: report of a case and review of the literature. (25889625)
2015
36
Laparoscopic excision of an adult retroperitoneal cystic lymphangioma coexisting with an esophageal hiatus hernia. (25998607)
2015
37
Unusual sites of cystic lymphangioma in children. (25282458)
2014
38
Cystic lymphangioma of adrenal gland: a clinicopathological study of 3 cases and review of literature. (25197378)
2014
39
A rare entity: Cystic lymphangioma of the duodenal bulb and successful treatment with polypectomy in an adult patient. (25254526)
2014
40
Single-site laparoscopic excision of mesocolic cystic lymphangioma - a video vignette. (24617916)
2014
41
Cystic lymphangioma of the chest wall: a case report. (25606029)
2014
42
Cystic lymphangioma of the inguinal and scrotal regions in childhood - report of three cases. (25125963)
2014
43
Pancreatic cystic lymphangioma: diagnostic approach with MDCT and MR imaging. (25073240)
2014
44
Chronic Low Back Pain due to Retroperitoneal Cystic Lymphangioma. (25207319)
2014
45
Cystic lymphangioma of pericardium presenting as isolated chylopericardium - a case report. (24581109)
2014
46
Abdominal cystic lymphangioma complicated by mesenteric volvulus: a case report. (25504400)
2014
47
Huge cystic lymphangioma of the mediastinum successfully treated with thoracoscopic surgery. (25468104)
2014
48
Cystic lymphangioma of the rectus abdominis muscle: an extremely rare clinical entity. (25793081)
2014
49
Mesenteric cystic lymphangioma mimicking malignancy. (25178885)
2014
50
Mediastinal cystic lymphangioma in a patient with situs inversus totalis. (25431732)
2014

Variations for Cystic Lymphangioma

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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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Pathways related to Cystic Lymphangioma according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.8IFNG, PIK3CA
29.7AFP, IFNG

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:00058929.7CHRND, 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:006039510.2AFP, NODAL
2liver developmentGO:00018899.9AFP, NODAL, PIK3CA
3cation transmembrane transportGO:00986559.8CHRND, CHRNG
4chemical synaptic transmission, postsynapticGO:00995659.8CHRND, CHRNG
5neuromuscular synaptic transmissionGO:00072749.8CHRND, CHRNG
6response to nicotineGO:00350949.8CHRND, CHRNG
7synaptic transmission, cholinergicGO:00072719.8CHRND, CHRNG
8vasculature developmentGO:00019449.6NODAL, PIK3CA
9transportGO:00068108.9AFP, CHRND, CHRNG

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine bindingGO:00421669.5CHRND, CHRNG
2acetylcholine receptor activityGO:00154649.5CHRND, CHRNG
3acetylcholine-activated cation-selective channel activityGO:00048899.5CHRND, CHRNG
4ligand-gated ion channel activityGO:00152769.0CHRND, CHRNG

Sources for Cystic Lymphangioma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet