MCID: CYS002
MIFTS: 47

Cystic Lymphangioma

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

Aliases & Classifications for Cystic Lymphangioma

MalaCards integrated aliases for Cystic Lymphangioma:

Name: Cystic Lymphangioma 12 49 14
Cystic Hygroma 12 72 49 28
Macrocystic Lymphatic Malformation 49 55
Cavernous Lymphangioma 55 69
Lymphangioma, Cystic 41 69
Cavernous Lymphatic Malformation 55
Macrocystic Lymphangioma 55

Characteristics:

Orphanet epidemiological data:

55
macrocystic lymphatic malformation
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:3081
MeSH 41 D018191
NCIt 46 C3724
Orphanet 55 ORPHA79489
UMLS via Orphanet 70 C0205828
ICD10 via Orphanet 33 D18.1

Summaries for Cystic Lymphangioma

NIH Rare Diseases : 49 A cystic hygroma is a fluid-filled sac that results from a blockage in the lymphatic system. It is most commonly located in the neck or head area, but can be located anywhere in the body. It may be discovered in a fetus during a pregnancy ultrasound, or it may be apparent at birth as a soft bulge under the skin. When it is identified on pregnancy ultrasound, there is an increased risk for miscarriage. In some cases, it is not discovered until a person is older. Symptoms can vary depending on its size and specific location, and it can potentially cause problems with nearby structures or organs. A cystic hygroma may be caused by genetic or environmental factors that cause abnormal development of the lymphatic vascular system during embryonic growth. It may occur on its own or as part of a genetic syndrome with other features, such as Turner syndrome, Down syndrome or Noonan syndrome. In adults it may result from trauma, or from earlier respiratory infections. In many cases, the cause is not known. Treatment involves removing the cystic hygroma, although removing all of it may not be possible. Other treatments that have been tried with limited success include chemotherapy, injection of sclerosing medicines, radiation therapy, and steroids. Last updated: 8/15/2017

MalaCards based summary : Cystic Lymphangioma, also known as cystic hygroma, is related to abdominal cystic lymphangioma and cavernous lymphangioma. An important gene associated with Cystic Lymphangioma is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are Immune response IFN gamma signaling pathway and IL1 and megakaryocytes in obesity. The drugs Picibanil and Pancrelipase have been mentioned in the context of this disorder. Affiliated tissues include pancreas, skin and colon, and related phenotypes are Increased HPV16-GFP infection and mortality/aging

Wikipedia : 72 A cystic hygroma, also known as cystic lymphangioma and macrocystic lymphatic malformation, is an often... more...

Related Diseases for Cystic Lymphangioma

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 abdominal cystic lymphangioma 12.5
2 cavernous lymphangioma 12.3
3 lymphatic malformations 11.2
4 nuchal bleb, familial 11.1
5 mixed cystic lymphatic malformation 11.1
6 lymphangioma 11.0
7 mediastinitis 10.4
8 pancreatitis 10.3
9 cervicitis 10.2
10 episodic pain syndrome, familial, 1 10.1
11 appendicitis 10.1
12 ovarian embryonal carcinoma 10.1 AFP NODAL
13 neonatal myasthenia gravis 10.1 AFP CHRNG
14 patau syndrome 10.0 AFP NODAL
15 intestinal obstruction 10.0
16 duodenitis 10.0
17 hepatitis b 9.9 AFP IFNG PIK3CA
18 intussusception 9.9
19 hepatitis 9.9
20 cystic teratoma 9.9
21 teratoma 9.9
22 adenomatoid tumor 9.9
23 hemangioendothelioma 9.9
24 splenomegaly 9.9
25 postsynaptic congenital myasthenic syndromes 9.8 CHRND DOK7
26 physical disorder 9.8 AFP NODAL
27 blue rubber bleb nevus 9.7
28 cayler cardiofacial syndrome 9.7
29 fibrosis of extraocular muscles, congenital, 1 9.7
30 ascites, chylous 9.7
31 celiac disease 1 9.7
32 cystic fibrosis 9.7
33 lymphoma, hodgkin, classic 9.7
34 jejunal atresia 9.7
35 paine syndrome 9.7
36 aging 9.7
37 ayme-gripp syndrome 9.7
38 bile duct cysts 9.7
39 hemangioma 9.7
40 lymphoma 9.7
41 esophagitis 9.7
42 mucocele of salivary gland 9.7
43 urethritis 9.7
44 pneumothorax 9.7
45 melanoma 9.7
46 seminoma 9.7
47 ureteral obstruction 9.7
48 subacute thyroiditis 9.7
49 thyroiditis 9.7
50 situs inversus 9.7

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



Diseases related to Cystic Lymphangioma

Symptoms & Phenotypes for Cystic Lymphangioma

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased HPV16-GFP infection GR00350-A 8.8 AFP CHRNG PIK3CA

MGI Mouse Phenotypes related to Cystic Lymphangioma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.87 HIRA IFNG NODAL AFP PIK3CA CHRNG
2 embryo MP:0005380 9.85 HIRA IFNG NODAL PIK3CA CHRNG FLVCR2
3 muscle MP:0005369 9.73 HIRA IFNG NODAL PIK3CA CHRNG DOK7
4 nervous system MP:0003631 9.5 FLVCR2 HIRA IFNG NODAL PIK3CA CHRNG
5 neoplasm MP:0002006 9.46 FLVCR2 IFNG AFP PIK3CA
6 respiratory system MP:0005388 9.02 FLVCR2 IFNG NODAL CHRNG DOK7

Drugs & Therapeutics for Cystic Lymphangioma

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Picibanil Phase 2, Phase 3
2
Pancrelipase Approved, Investigational 53608-75-6
3 pancreatin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Picibanil (OK432) Sclerotherapy in Children With Macrocystic Lymphatic Malformations Completed NCT00010452 Phase 2, Phase 3 picibanil
2 AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome) Recruiting NCT02250456
3 Needle-based Confocal Laser Endomicroscopy on Pancreatic Cystic Lesions Terminated NCT02494388

Search NIH Clinical Center for Cystic Lymphangioma

Cochrane evidence based reviews: lymphangioma, cystic

Genetic Tests for Cystic Lymphangioma

Genetic tests related to Cystic Lymphangioma:

# Genetic test Affiliating Genes
1 Cystic Hygroma 28

Anatomical Context for Cystic Lymphangioma

MalaCards organs/tissues related to Cystic Lymphangioma:

38
Pancreas, Skin, Colon, Spleen, Breast, Adrenal Gland, Tongue

Publications for Cystic Lymphangioma

Articles related to Cystic Lymphangioma:

(show top 50) (show all 420)
# Title Authors Year
1
Ileal Cystic Lymphangioma presenting with Acute Appendicitis. ( 29386763 )
2018
2
Cystic Lymphangioma of the Colon: Endoscopic Removal beyond the Frontiers of Size. ( 28512390 )
2017
3
Cystic lymphangioma of spleen in adults. ( 28122799 )
2017
4
Abdominal cystic lymphangioma in a term newborn: A case report and update of new treatments. ( 28225486 )
2017
5
A Rare Cause of Dyspnea: Cervicothoracic Cystic Lymphangioma. ( 28872508 )
2017
6
Incidental finding of (131)I uptake in mesenteric cystic lymphangioma on post-therapy (131)I SPECT/CT imaging. ( 28215398 )
2017
7
Rare Case of Pancreatic Cystic Lymphangioma. ( 29151529 )
2017
8
Large Omental Cystic Lymphangioma Masquerading as Mucinous Ovarian Neoplasia in an 8-Year-Old Premenarchal Girl: The Findings from Diagnostic Imaging and Laparoscopic-Assisted Excision. ( 28629796 )
2017
9
Recurring Giant Mediastinal Cystic Lymphangioma. ( 28363031 )
2017
10
Management of a large cystic lymphangioma causing intestinal obstruction. ( 28477401 )
2017
11
Gastrointestinal: Giant mesenteric cystic lymphangioma. ( 28221691 )
2017
12
Cystic Lymphangioma of the Chest Wall in a 5-Year-Old Male Patient: A Rare and Atypical Localization-A Case Report and Comprehensive Review of the Literature. ( 29201481 )
2017
13
Imaging findings of axillary cystic lymphangioma in adult. ( 28735807 )
2017
14
Cystic Lymphangioma of the Mesenteric Root in an Adolescent, an Operative Challenge. ( 28958247 )
2017
15
Cystic lymphangioma of the lesser omentum in a pregnant woman: a case report and review of the literature. ( 28976139 )
2017
16
Cystic lymphangioma in a 44-year-old woman. ( 28451011 )
2017
17
Thoracoscopic resection of a huge mediastinal cystic lymphangioma. ( 29268428 )
2017
18
Epididymal Cystic Lymphangioma Presenting as Scrotal Swelling in a Post Surgery Case of Carcinoma Rectum- A Case Report. ( 29207807 )
2017
19
The use of sirolimus in the treatment of giant cystic lymphangioma: Four case reports and update of medical therapy. ( 29390423 )
2017
20
Diagnosis of cystic lymphangioma of the colon by endoscopic ultrasound: Biopsy is not needed! ( 27803907 )
2016
21
Adult cystic lymphangioma in the inner quadrant of the breast-Rare location for a rare disease: A case report. ( 26852362 )
2016
22
Emergency presentation of cystic lymphangioma of the colon: A case report and literature review. ( 27266826 )
2016
23
A rare case of giant mesenteric cystic lymphangioma of the small bowel in an adult: A case presentation and literature review. ( 28906220 )
2016
24
CT Appearance of Adrenal Cystic Lymphangioma: Radiologic-Pathologic Correlation. ( 26700338 )
2016
25
Volvulus of the jejunum on cystic lymphangioma: About a clinical case. ( 27251660 )
2016
26
Case Report: Multivisceral Transplantation for an Extensive Cystic Lymphangioma of the Mesenteric Root. ( 27109997 )
2016
27
Giant retroperitoneal cystic lymphangioma in a patient with Eisenmenger syndrome. ( 26590885 )
2016
28
Splenic cystic lymphangioma with atypical ultrasound findings. ( 26703174 )
2016
29
Cystic Lymphangioma of the Pancreas: a Rare Entity. ( 27334312 )
2016
30
Splenic cystic lymphangioma. ( 27318865 )
2016
31
Laparoscopic Treatment of Intraabdominal Cystic Lymphangioma. ( 27452935 )
2016
32
Drop-Attacks Revealing a Cervical Cystic Lymphangioma. ( 26620381 )
2016
33
Utility of conservative treatment in cystic lymphangioma. ( 27087134 )
2016
34
A rare case of giant mesenteric cystic lymphangioma of the small bowel in an adult: A case presentation and literature review. ( 28209109 )
2016
35
Cystic Lymphangioma of Pancreas. ( 27065694 )
2016
36
Giant cystic lymphangioma originating from the cardia of the stomach: A case report. ( 27168832 )
2016
37
Hemorrhagic giant cystic lymphangioma of the liver in an adult female. ( 25832463 )
2015
38
Pancreatic cystic lymphangioma diagnosed with endoscopic ultrasonographic-fine needle aspiration; a rare mesenchymal tumor. ( 26448423 )
2015
39
Adrenal Cystic Lymphangioma. ( 26426195 )
2015
40
Incidental Cystic Lymphangioma of the Small Bowel Mesentery. ( 26605129 )
2015
41
Laparoscopic excision of an adult retroperitoneal cystic lymphangioma coexisting with an esophageal hiatus hernia. ( 25998607 )
2015
42
Thoracic Cystic Lymphangioma in an Elderly Patient. ( 25800326 )
2015
43
Enlarging cystic lymphangioma of the mediastinum in an adult: is this a neoplastic lesion related to the recently discovered PIK3CA mutation? ( 26191320 )
2015
44
Bilateral Cystic Lymphangioma of Ovary Associated with Chylous Ascites. ( 26435959 )
2015
45
Identification of a pediatric intra-abdominal cystic lymphangioma using point-of-care ultrasonography. ( 25560624 )
2015
46
Laparoscopic resection of a huge retroperitoneal cystic lymphangioma after successful reduction of tumor size with a double balloon catheter. ( 25898335 )
2015
47
Cystic lymphangioma: A differential diagnosis. ( 26980972 )
2015
48
Cystic lymphangioma of the adrenal gland: report of a case and review of the literature. ( 25889625 )
2015
49
A giant abdominal cystic tumour: Mesentery cystic lymphangioma. ( 26143717 )
2015
50
Intra-abdominal cystic lymphangioma in an adult female masquerading ovarian tumor. ( 26905145 )
2015

Variations for Cystic Lymphangioma

Cosmic variations for Cystic Lymphangioma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM584 NRAS skin,neck,benign melanocytic nevus,congenital c.182A>G p.Q61R 4

Expression for Cystic Lymphangioma

Search GEO for disease gene expression data for Cystic Lymphangioma.

Pathways for Cystic Lymphangioma

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 IFNG PIK3CA
2 10.35 IFNG PIK3CA
3 9.97 IFNG PIK3CA

GO Terms for Cystic Lymphangioma

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

# Name GO ID Score Top Affiliating Genes
1 acetylcholine-gated channel complex GO:0005892 8.62 CHRND CHRNG

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

# Name GO ID Score Top Affiliating Genes
1 cation transmembrane transport GO:0098655 9.46 CHRND CHRNG
2 excitatory postsynaptic potential GO:0060079 9.43 CHRND CHRNG
3 SMAD protein signal transduction GO:0060395 9.4 AFP NODAL
4 regulation of postsynaptic membrane potential GO:0060078 9.37 CHRND CHRNG
5 response to nicotine GO:0035094 9.32 CHRND CHRNG
6 gastrulation GO:0007369 9.26 HIRA NODAL
7 synaptic transmission, cholinergic GO:0007271 9.16 CHRND CHRNG
8 neuromuscular synaptic transmission GO:0007274 8.96 CHRND CHRNG
9 vasculature development GO:0001944 8.62 NODAL PIK3CA

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

# Name GO ID Score Top Affiliating Genes
1 extracellular ligand-gated ion channel activity GO:0005230 9.26 CHRND CHRNG
2 ligand-gated ion channel activity GO:0015276 9.16 CHRND CHRNG
3 acetylcholine binding GO:0042166 8.96 CHRND CHRNG
4 acetylcholine-gated cation-selective channel activity GO:0022848 8.62 CHRND CHRNG

Sources for Cystic Lymphangioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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