MCID: CYS002
MIFTS: 45

Cystic Lymphangioma

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

Aliases & Classifications for Cystic Lymphangioma

MalaCards integrated aliases for Cystic Lymphangioma:

Name: Cystic Lymphangioma 12 50 14
Cystic Hygroma 12 50 29
Macrocystic Lymphatic Malformation 50 56
Cavernous Lymphangioma 56 69
Lymphangioma, Cystic 42 69
Cavernous Lymphatic Malformation 56
Macrocystic Lymphangioma 56

Characteristics:

Orphanet epidemiological data:

56
macrocystic lymphatic malformation
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:3081
MeSH 42 D018191
NCIt 47 C3724
Orphanet 56 ORPHA79489
UMLS via Orphanet 70 C0205828
ICD10 via Orphanet 34 D18.1
UMLS 69 C0206620

Summaries for Cystic Lymphangioma

NIH Rare Diseases : 50 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

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 60)
id Related Disease Score Top Affiliating Genes
1 abdominal cystic lymphangioma 12.4
2 cavernous lymphangioma 12.2
3 cystic hygroma lethal cleft palate 12.0
4 nuchal bleb, familial 11.9
5 lymphatic malformations 11.1
6 mixed cystic lymphatic malformation 11.0
7 lymphangioma 10.9
8 mediastinitis 10.2
9 pancreatitis 10.2
10 visual cortex disease 10.1 AFP NODAL
11 paraurethral gland cancer 10.1 AFP CHRNG
12 cervicitis 10.1
13 hypotrichosis of eyelid 10.0 AFP NODAL
14 ehlers-danlos syndrome, type viic 10.0 AFP FLVCR2
15 appendicitis 10.0
16 hereditary hemorrhagic telangiectasia 9.9 AFP IFNG PIK3CA
17 intestinal obstruction 9.9
18 duodenitis 9.9
19 complete cryptophthalmia 9.8 CHRND DOK7
20 hepatitis 9.8
21 cystic teratoma 9.8
22 teratoma 9.8
23 adenomatoid tumor 9.8
24 intussusception 9.8
25 hemangioendothelioma 9.8
26 splenomegaly 9.8
27 hodgkin lymphoma 9.6
28 celiac disease 9.6
29 cystic fibrosis 9.6
30 blue rubber bleb nevus 9.6
31 jejunal atresia 9.6
32 hemangioma 9.6
33 lymphoma 9.6
34 esophagitis 9.6
35 hiatus hernia 9.6
36 urethritis 9.6
37 pneumothorax 9.6
38 melanoma 9.6
39 seminoma 9.6
40 ureteral obstruction 9.6
41 subacute thyroiditis 9.6
42 thyroiditis 9.6
43 situs inversus 9.6
44 peritonitis 9.6
45 choledochal cyst 9.6
46 eisenmenger syndrome 9.6
47 fetal hydantoin syndrome 9.6
48 glioblastoma 9.6
49 wandering spleen 9.6
50 aneurysm 9.6

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:

26
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.87 AFP CHRNG DOK7 HIRA IFNG NODAL
2 embryo MP:0005380 9.85 CHRNG FLVCR2 HIRA IFNG NODAL PIK3CA
3 muscle MP:0005369 9.73 CHRNG DOK7 HIRA IFNG NODAL PIK3CA
4 nervous system MP:0003631 9.5 DOK7 FLVCR2 HIRA IFNG NODAL PIK3CA
5 neoplasm MP:0002006 9.46 AFP FLVCR2 IFNG PIK3CA
6 respiratory system MP:0005388 9.02 CHRNG DOK7 FLVCR2 IFNG NODAL

Drugs & Therapeutics for Cystic Lymphangioma

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


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

Interventional clinical trials:


id 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 Needle-based Confocal Laser Endomicroscopy on Pancreatic Cystic Lesions Unknown status NCT02494388 Early Phase 1
3 AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome) Recruiting NCT02250456

Search NIH Clinical Center for Cystic Lymphangioma

Cochrane evidence based reviews: lymphangioma, cystic

Genetic Tests for Cystic Lymphangioma

Genetic tests related to Cystic Lymphangioma:

id Genetic test Affiliating Genes
1 Cystic Hygroma 29

Anatomical Context for Cystic Lymphangioma

MalaCards organs/tissues related to Cystic Lymphangioma:

39
Pancreas, Skin, Colon, Spleen, Breast, Adrenal Gland, Tongue

Publications for Cystic Lymphangioma

Articles related to Cystic Lymphangioma:

(show top 50) (show all 412)
id Title Authors Year
1
Management of a large cystic lymphangioma causing intestinal obstruction. ( 28477401 )
2017
2
Imaging findings of axillary cystic lymphangioma in adult. ( 28735807 )
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
Incidental finding of (131)I uptake in mesenteric cystic lymphangioma on post-therapy (131)I SPECT/CT imaging. ( 28215398 )
2017
6
Cystic Lymphangioma of the Colon: Endoscopic Removal beyond the Frontiers of Size. ( 28512390 )
2017
7
Cystic lymphangioma in a 44-year-old woman. ( 28451011 )
2017
8
Gastrointestinal: Giant mesenteric cystic lymphangioma. ( 28221691 )
2017
9
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
10
A Rare Cause of Dyspnea: Cervicothoracic Cystic Lymphangioma. ( 28872508 )
2017
11
Recurring Giant Mediastinal Cystic Lymphangioma. ( 28363031 )
2017
12
Cystic Lymphangioma of the Pancreas: a Rare Entity. ( 27334312 )
2016
13
Volvulus of the jejunum on cystic lymphangioma: About a clinical case. ( 27251660 )
2016
14
A rare case of giant mesenteric cystic lymphangioma of the small bowel in an adult: A case presentation and literature review. ( 28209109 )
2016
15
Diagnosis of cystic lymphangioma of the colon by endoscopic ultrasound: Biopsy is not needed! ( 27803907 )
2016
16
Cystic Lymphangioma of Pancreas. ( 27065694 )
2016
17
Giant cystic lymphangioma originating from the cardia of the stomach: A case report. ( 27168832 )
2016
18
Adult cystic lymphangioma in the inner quadrant of the breast-Rare location for a rare disease: A case report. ( 26852362 )
2016
19
Emergency presentation of cystic lymphangioma of the colon: A case report and literature review. ( 27266826 )
2016
20
Utility of conservative treatment in cystic lymphangioma. ( 27087134 )
2016
21
Case Report: Multivisceral Transplantation for an Extensive Cystic Lymphangioma of the Mesenteric Root. ( 27109997 )
2016
22
Giant retroperitoneal cystic lymphangioma in a patient with Eisenmenger syndrome. ( 26590885 )
2016
23
Laparoscopic Treatment of Intraabdominal Cystic Lymphangioma. ( 27452935 )
2016
24
CT Appearance of Adrenal Cystic Lymphangioma: Radiologic-Pathologic Correlation. ( 26700338 )
2016
25
A rare case of giant mesenteric cystic lymphangioma of the small bowel in an adult: A case presentation and literature review. ( 28906220 )
2016
26
Splenic cystic lymphangioma with atypical ultrasound findings. ( 26703174 )
2016
27
Drop-Attacks Revealing a Cervical Cystic Lymphangioma. ( 26620381 )
2016
28
Splenic cystic lymphangioma. ( 27318865 )
2016
29
A giant abdominal cystic tumour: Mesentery cystic lymphangioma. ( 26143717 )
2015
30
Unusual Presentation of Giant Omental Cystic Lymphangioma Mimicking Haemorrhagic Ascites in a Child. ( 26704862 )
2015
31
Hemorrhagic giant cystic lymphangioma of the liver in an adult female. ( 25832463 )
2015
32
Cystic lymphangioma of the adrenal gland: report of a case and review of the literature. ( 25889625 )
2015
33
Adrenal cystic lymphangioma presented with hypertension: a case report. ( 26034745 )
2015
34
Adrenal Cystic Lymphangioma. ( 26426195 )
2015
35
Incidental Cystic Lymphangioma of the Small Bowel Mesentery. ( 26605129 )
2015
36
Cystic lymphangioma: A differential diagnosis. ( 26980972 )
2015
37
Rare Tumors, Rare Association: Ovarian Strumal Carcinoid - Retroperitoneal Cystic Lymphangioma. ( 26158742 )
2015
38
A sudden pain in the neck: an atypical presentation of cystic lymphangioma. ( 25795753 )
2015
39
Intra-abdominal cystic lymphangioma in an adult female masquerading ovarian tumor. ( 26905145 )
2015
40
Thoracic Cystic Lymphangioma in an Elderly Patient. ( 25800326 )
2015
41
A Case of Mediastinal Cystic Lymphangioma. ( 26690247 )
2015
42
Enlarging cystic lymphangioma of the mediastinum in an adult: is this a neoplastic lesion related to the recently discovered PIK3CA mutation? ( 26191320 )
2015
43
Treatment of cystic lymphangioma by transcatheter lymphatic sclerotherapy and embolization. ( 25735533 )
2015
44
Laparoscopic resection of a huge retroperitoneal cystic lymphangioma after successful reduction of tumor size with a double balloon catheter. ( 25898335 )
2015
45
Two unusual sites of cystic lymphangioma in a child: A report of imaging profile with surgical and histopathologic findings. ( 26436083 )
2015
46
Pancreatic cystic lymphangioma diagnosed with endoscopic ultrasonographic-fine needle aspiration; a rare mesenchymal tumor. ( 26448423 )
2015
47
Identification of a pediatric intra-abdominal cystic lymphangioma using point-of-care ultrasonography. ( 25560624 )
2015
48
Bilateral Cystic Lymphangioma of Ovary Associated with Chylous Ascites. ( 26435959 )
2015
49
Laparoscopic excision of an adult retroperitoneal cystic lymphangioma coexisting with an esophageal hiatus hernia. ( 25998607 )
2015
50
Unusual sites of cystic lymphangioma in children. ( 25282458 )
2014

Variations for Cystic Lymphangioma

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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 excitatory postsynaptic potential GO:0060079 9.46 CHRND CHRNG
2 cation transmembrane transport GO:0098655 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....