MCID: CYS002
MIFTS: 46

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 53 15
Cystic Hygroma 12 76 53 29 6
Macrocystic Lymphatic Malformation 53 59
Cavernous Lymphangioma 59 73
Lymphangioma, Cystic 44 73
Cavernous Lymphatic Malformation 59
Macrocystic Lymphangioma 59

Characteristics:

Orphanet epidemiological data:

59
macrocystic lymphatic malformation
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:3081
MeSH 44 D018191
NCIt 50 C3724
Orphanet 59 ORPHA79489
UMLS via Orphanet 74 C0205828
ICD10 via Orphanet 34 D18.1

Summaries for Cystic Lymphangioma

NIH Rare Diseases : 53 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.

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 DOK7 (Docking Protein 7), and among its related pathways/superpathways are IL1 and megakaryocytes in obesity and PDGFR-alpha signaling pathway. 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 Decreased HPV16-GFP infection and mortality/aging

Wikipedia : 76 A cystic hygroma is an abnormal growth that usually appears on a baby\'s neck or head. It consists of... more...

Related Diseases for Cystic Lymphangioma

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

MGI Mouse Phenotypes related to Cystic Lymphangioma:

46
# 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 FLVCR2 HIRA IFNG NODAL PIK3CA CHRNG
3 muscle MP:0005369 9.73 CHRNG DOK7 HIRA IFNG NODAL PIK3CA
4 nervous system MP:0003631 9.5 CHRNG DOK7 FLVCR2 HIRA IFNG NODAL
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):


# 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 29

Anatomical Context for Cystic Lymphangioma

MalaCards organs/tissues related to Cystic Lymphangioma:

41
Pancreas, Skin, Colon, Spleen, Breast, Adrenal Gland, Tongue

Publications for Cystic Lymphangioma

Articles related to Cystic Lymphangioma:

(show top 50) (show all 492)
# Title Authors Year
1
First Prenatal Diagnosis of a Niemann-Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature. ( 29928259 )
2018
2
Ileal Cystic Lymphangioma presenting with Acute Appendicitis. ( 29386763 )
2018
3
Percutaneous full endoscopic treatment of cystic lymphangioma of cauda equina: a case report. ( 29658356 )
2018
4
A young woman with steroid-responsive, IgG4-positive plasma cell-enriched cystic lymphangioma and chylous ascites. ( 29881573 )
2018
5
Cystic Lymphangioma: Are Triglycerides Always Measurable? ( 29686910 )
2018
6
Retroperitoneal cystic lymphangioma in an adult: A case report. ( 29785367 )
2018
7
Recurring Giant Mediastinal Cystic Lymphangioma. ( 28363031 )
2017
8
Cystic lymphangioma in a 44-year-old woman. ( 28451011 )
2017
9
Cystic lymphangioma of spleen in adults. ( 28122799 )
2017
10
Epididymal Cystic Lymphangioma Presenting as Scrotal Swelling in a Post Surgery Case of Carcinoma Rectum- A Case Report. ( 29207807 )
2017
11
Cystic lymphangioma of the lesser omentum in a pregnant woman: a case report and review of the literature. ( 28976139 )
2017
12
Thoracoscopic resection of a huge mediastinal cystic lymphangioma. ( 29268428 )
2017
13
Imaging findings of axillary cystic lymphangioma in adult. ( 28735807 )
2017
14
Incidental finding of (131)I uptake in mesenteric cystic lymphangioma on post-therapy (131)I SPECT/CT imaging. ( 28215398 )
2017
15
Cystic Lymphangioma of the Colon: Endoscopic Removal beyond the Frontiers of Size. ( 28512390 )
2017
16
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
17
Management of a large cystic lymphangioma causing intestinal obstruction. ( 28477401 )
2017
18
Gastrointestinal: Giant mesenteric cystic lymphangioma. ( 28221691 )
2017
19
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
20
Cystic Lymphangioma of the Mesenteric Root in an Adolescent, an Operative Challenge. ( 28958247 )
2017
21
Abdominal cystic lymphangioma in a term newborn: A case report and update of new treatments. ( 28225486 )
2017
22
How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype? ( 27193571 )
2017
23
The use of sirolimus in the treatment of giant cystic lymphangioma: Four case reports and update of medical therapy. ( 29390423 )
2017
24
A Rare Cause of Dyspnea: Cervicothoracic Cystic Lymphangioma. ( 28872508 )
2017
25
Rare Case of Pancreatic Cystic Lymphangioma. ( 29151529 )
2017
26
CT Appearance of Adrenal Cystic Lymphangioma: Radiologic-Pathologic Correlation. ( 26700338 )
2016
27
Emergency presentation of cystic lymphangioma of the colon: A case report and literature review. ( 27266826 )
2016
28
Cystic Lymphangioma of Pancreas. ( 27065694 )
2016
29
Adult cystic lymphangioma in the inner quadrant of the breast-Rare location for a rare disease: A case report. ( 26852362 )
2016
30
Drop-Attacks Revealing a Cervical Cystic Lymphangioma. ( 26620381 )
2016
31
A rare case of giant mesenteric cystic lymphangioma of the small bowel in an adult: A case presentation and literature review. ( 28209109 )
2016
32
A rare case of giant mesenteric cystic lymphangioma of the small bowel in an adult: A case presentation and literature review. ( 28906220 )
2016
33
Giant retroperitoneal cystic lymphangioma in a patient with Eisenmenger syndrome. ( 26590885 )
2016
34
Laparoscopic Treatment of Intraabdominal Cystic Lymphangioma. ( 27452935 )
2016
35
Utility of conservative treatment in cystic lymphangioma. ( 27087134 )
2016
36
Case Report: Multivisceral Transplantation for an Extensive Cystic Lymphangioma of the Mesenteric Root. ( 27109997 )
2016
37
Diagnosis of cystic lymphangioma of the colon by endoscopic ultrasound: Biopsy is not needed! ( 27803907 )
2016
38
An Interesting Association of Cystic Hygroma of the Neck and Lymphangioma Causing a Paediatric Swollen Tongue. ( 27069707 )
2016
39
Splenic cystic lymphangioma. ( 27318865 )
2016
40
Splenic cystic lymphangioma with atypical ultrasound findings. ( 26703174 )
2016
41
Giant cystic lymphangioma originating from the cardia of the stomach: A case report. ( 27168832 )
2016
42
Cystic Lymphangioma of the Pancreas: a Rare Entity. ( 27334312 )
2016
43
Volvulus of the jejunum on cystic lymphangioma: About a clinical case. ( 27251660 )
2016
44
Pancreatic cystic lymphangioma diagnosed with endoscopic ultrasonographic-fine needle aspiration; a rare mesenchymal tumor. ( 26448423 )
2015
45
Bilateral Cystic Lymphangioma of Ovary Associated with Chylous Ascites. ( 26435959 )
2015
46
A Case of Mediastinal Cystic Lymphangioma. ( 26690247 )
2015
47
Treatment of cystic lymphangioma by transcatheter lymphatic sclerotherapy and embolization. ( 25735533 )
2015
48
A sudden pain in the neck: an atypical presentation of cystic lymphangioma. ( 25795753 )
2015
49
A giant abdominal cystic tumour: Mesentery cystic lymphangioma. ( 26143717 )
2015
50
Cystic lymphangioma of the adrenal gland: report of a case and review of the literature. ( 25889625 )
2015

Variations for Cystic Lymphangioma

ClinVar genetic disease variations for Cystic Lymphangioma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XX;t(6;17)(q13;q21)dn Translocation Likely pathogenic

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 10.35 IFNG PIK3CA
2 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 excitatory postsynaptic potential GO:0060079 9.48 CHRND CHRNG
2 cation transmembrane transport GO:0098655 9.46 CHRND CHRNG
3 SMAD protein signal transduction GO:0060395 9.43 AFP NODAL
4 nervous system process GO:0050877 9.4 CHRND CHRNG
5 response to nicotine GO:0035094 9.37 CHRND CHRNG
6 gastrulation GO:0007369 9.32 HIRA NODAL
7 neuromuscular synaptic transmission GO:0007274 9.26 CHRND CHRNG
8 regulation of postsynaptic membrane potential GO:0060078 9.16 CHRND CHRNG
9 synaptic transmission, cholinergic GO:0007271 8.96 CHRND CHRNG
10 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 9.32 CHRND CHRNG
2 ligand-gated ion channel activity GO:0015276 9.26 CHRND CHRNG
3 acetylcholine binding GO:0042166 9.16 CHRND CHRNG
4 acetylcholine-gated cation-selective channel activity GO:0022848 8.96 CHRND CHRNG
5 acetylcholine receptor activity GO:0015464 8.62 CHRND CHRNG

Sources for Cystic Lymphangioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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