MCID: CYS002
MIFTS: 47

Cystic Lymphangioma

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

Aliases & Classifications for Cystic Lymphangioma

MalaCards integrated aliases for Cystic Lymphangioma:

Name: Cystic Lymphangioma 12 53 15 17
Cystic Hygroma 12 75 53 29 6
Macrocystic Lymphatic Malformation 53 59
Cavernous Lymphangioma 59 72
Lymphangioma, Cystic 44 72
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
SNOMED-CT 68 40225001
ICD10 via Orphanet 34 D18.1
UMLS via Orphanet 73 C0205828
Orphanet 59 ORPHA79489
UMLS 72 C0205828 C0206620

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 multiple pterygium syndrome, lethal type and multiple pterygium syndrome, escobar variant. An important gene associated with Cystic Lymphangioma is IFNG (Interferon Gamma), and among its related pathways/superpathways are Immune response IL-23 signaling pathway and Immune response Role of DAP12 receptors in NK cells. The drug Picibanil has been mentioned in the context of this disorder. Affiliated tissues include pancreas, spleen and skin, and related phenotypes are Decreased HPV16-GFP infection and growth/size/body region

Wikipedia : 75 A cystic hygroma is an abnormal growth that usually appears on a baby's neck or head. It consists of one... 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 282)
# Related Disease Score Top Affiliating Genes
1 multiple pterygium syndrome, lethal type 32.5 CHRNG CHRND
2 multiple pterygium syndrome, escobar variant 32.4 CHRNG CHRND
3 mature teratoma 30.1 PCNA AFP
4 oligohydramnios 29.9 CHRNG CHRND AFP
5 abdominal cystic lymphangioma 12.8
6 hygroma cervical 11.7
7 microcystic lymphatic malformation 11.4
8 mixed cystic lymphatic malformation 11.4
9 lymphangioma 11.3
10 rare lymphatic malformation 11.3
11 turner syndrome 10.7
12 gonadal dysgenesis 10.7
13 lymphatic malformations 10.5
14 appendicitis 10.4
15 intestinal volvulus 10.4
16 rare tumor 10.4
17 intestinal obstruction 10.4
18 noonan syndrome 1 10.4
19 patau syndrome 10.4
20 pseudo-turner syndrome 10.4
21 nuchal bleb, familial 10.4
22 lymphangiomatosis 10.3
23 polyhydramnios 10.3
24 hemangioma 10.2
25 hydrocele 10.2
26 splenomegaly 10.2
27 cleft palate, isolated 10.2
28 omphalocele 10.2
29 aortic coarctation 10.2
30 colonic lymphangioma 10.2
31 benign mesothelioma 10.2
32 teratoma 10.2
33 ovarian cyst 10.2
34 lymphangiectasis 10.2
35 hair whorl 10.1
36 diaphragmatic hernia, congenital 10.1
37 hypertelorism 10.1
38 fryns syndrome 10.1
39 patent ductus arteriosus 1 10.1
40 hydrops, lactic acidosis, and sideroblastic anemia 10.1
41 sleep apnea 10.1
42 encephalocele 10.1
43 neonatal myasthenia gravis 10.1 CHRNG AFP
44 varicose veins 10.1
45 suppression amblyopia 10.1
46 amblyopia 10.1
47 retinal vein occlusion 10.1
48 optic nerve disease 10.1
49 keratopathy 10.1
50 central retinal vein occlusion 10.1

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 growth/size/body region MP:0005378 9.87 CHRNG DSCAM HIRA IFNG PCNA PIK3CA
2 mortality/aging MP:0010768 9.86 AFP CHRNG DSCAM HIRA IFNG PCNA
3 embryo MP:0005380 9.77 CHRNG HIRA IFNG PIK3CA PTPN11
4 muscle MP:0005369 9.63 CHRNG DSCAM HIRA IFNG PIK3CA PTPN11
5 no phenotypic analysis MP:0003012 9.43 DSCAM HIRA IFNG PCNA PIK3CA PTPN11
6 reproductive system MP:0005389 9.1 AFP DSCAM IFNG PCNA PIK3CA PTPN11

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Cystic Hygroma (Lymphangiomas) in Children- Picibanil(OK432) Sclerotherapy-Multicenter Trial Completed NCT00010452 Phase 2, Phase 3 picibanil
2 Detect, Monitor and Prevent 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:

# Genetic test Affiliating Genes
1 Cystic Hygroma 29

Anatomical Context for Cystic Lymphangioma

MalaCards organs/tissues related to Cystic Lymphangioma:

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

Publications for Cystic Lymphangioma

Articles related to Cystic Lymphangioma:

(show top 50) (show all 2032)
# Title Authors PMID Year
1
Gastric duplication cyst mimicking large cystic lymphangioma in an adult: A rare case report and review of the literature. 38
31423442 2019
2
Cystic hygroma and micromelic lower limbs: First-trimester sonographic markers of campomelic dysplasia. 38
31133349 2019
3
Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. 38
31278392 2019
4
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature. 38
31336229 2019
5
A case report of Turner syndrome associated with fetal nuchal cystic hygroma and bilateral syndactyly of the hands and feet. 38
31319890 2019
6
Cystic mesenteric lymphangioma: A case report. 38
31399398 2019
7
Analysis of cystic hygroma diagnosed in the first trimester: single-center experience 38
31298510 2019
8
Analysis of predisposing factors for chronic subdural hematoma recurrence. 38
31340313 2019
9
Primary Supraclavicular Cystic Lymphangioma in an Adult: A Rare Presentation. 38
31142406 2019
10
[Orbital cystic lymphangioma in a child: Case report]. 38
31208904 2019
11
Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature. 38
31124053 2019
12
Αdnexal cystic lymphangiomas in patients with massive leiomyomatous uterus: a not so uncommon finding on pelvic MRI. 38
31218386 2019
13
[Lymphangioma of the penis]. 38
31162904 2019
14
Analysis of cystic hygroma diagnosed in the prenatal period: 5-years' experience at a tertiary hospital in Southeastern Turkey. 38
29241391 2019
15
Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis. 38
30838783 2019
16
A Rare Presentation of Sudden Death due to Pulmonary Thromboembolism Possibly as a Result of Giant Hepatic Hemangioma. 38
31116429 2019
17
Prenatal ultrasound diagnosis of fetal chest wall cystic lymphangioma: An Italian case series. 38
30909010 2019
18
An adrenal cystic lymphangioma: A case report of a rare tumor. 38
31211054 2019
19
Cystic lymphangioma of the breast. 38
30972857 2019
20
Giant intra-abdominal cystic lymphangioma. 38
30613066 2019
21
Ileal volvulus secondary to cystic lymphangioma: A rare case report with a literature review. 38
31143702 2019
22
Pregnancy outcomes in patients with multiple sclerosis treated with teriflunomide: Clinical study data and 5 years of post-marketing experience. 38
30968734 2019
23
Retroperitoneal cystic lymphangioma as an incidental finding in a patient with pancreatitis symptoms. 38
30948211 2019
24
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era. 38
31040167 2019
25
Cystic lesion of pectoralis minor muscle: learning from mistakes. 38
30963055 2019
26
Adult-onset giant cervical cystic hygroma with pressure manifestations on aerodigestive tract, managed surgically: reporting of a rare case. 38
30602293 2019
27
Intra-Abdominal Cystic Lymphangioma. 38
30318372 2019
28
Cystic Hygroma: A Preliminary Genetic Study and a Short Review from the Literature. 38
30475086 2019
29
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. 38
29907801 2019
30
Massive adult cystic lymphangioma of the breast. 38
30792842 2019
31
Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency. 38
30818867 2019
32
Pleural-Based Intrathoracic Cystic Lymphangioma in an Infant Mimicking a Pneumonia. 38
31198614 2019
33
Elbow Cystic Lymphangioma in an 8-Month-Old Boy. 38
30886754 2019
34
Management of a large cystic lymphangioma causing intestinal obstruction. 38
28477401 2019
35
Noonan syndrome from a fetopathologist perspective. 38
30939887 2019
36
Early fetal hydropic changes are associated with moderate dilatation of the brain ventricular system: A clue to a possible link between cervical lymphatic engorgement and ventricular dilatation? 38
31119910 2019
37
Penile Lymphangioma: review of the literature with a case presentation. 38
30705756 2019
38
Giant cystic lymphangioma of adrenal gland: A case report and review of the literature. 38
30306048 2019
39
First trimester cystic hygroma colli: Retrospective analysis in a tertiary center. 38
30321790 2018
40
[Left-sided Chylothorax and Tumor of the Right Anterior Mediastinum]. 38
30453376 2018
41
The indications for early prenatal diagnosis of trisomy 18: a 7-year experience at mainland China. 38
30317892 2018
42
Concomitant breast and axillary lymphangioma in an adult: A case report and a review of the literature. 38
30407286 2018
43
First-trimester cystic hygroma and omphalocele in a fetus with Turner syndrome. 38
30342669 2018
44
Cystic lymphangioma of the pancreas: a hard diagnostic challenge between pancreatic cystic lesions-review of recent literature. 38
30505770 2018
45
[Analysis for the pregnancy outcome of cystic hygroma fetuses and correlation with increased nuchal translucency in first trimester]. 38
30369121 2018
46
Fatal Airway Obstruction in a Man With a Cystic Hygroma. 38
29782340 2018
47
CT and MRI of adrenal gland pathologies. 38
30306064 2018
48
Robotic-assisted laparoscopic surgery for pediatric tumors: a bicenter experience. 38
29288372 2018
49
Predicting the intrauterine fetal death of fetuses with cystic hygroma in early pregnancy. 38
29322592 2018
50
Treatment of Lymphatic Malformations with the mTOR Inhibitor Sirolimus: A Systematic Review. 38
29924669 2018

Variations for Cystic Lymphangioma

ClinVar genetic disease variations for Cystic Lymphangioma:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
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:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 PTPN11 PIK3CA IFNG
2
Show member pathways
12.23 PTPN11 PIK3CA IFNG
3
Show member pathways
12.21 PTPN11 PIK3CA IFNG
4
Show member pathways
12.11 PTPN11 PIK3CA IFNG
5
Show member pathways
11.96 PTPN11 PIK3CA PCNA
6
Show member pathways
11.93 PTPN11 PIK3CA IFNG
7
Show member pathways
11.38 PTPN11 PIK3CA
8 11.32 PTPN11 PIK3CA
9
Show member pathways
11.26 PTPN11 PIK3CA IFNG
10 11.23 PTPN11 PIK3CA
11 11.22 PTPN11 PIK3CA
12 11.2 PTPN11 PIK3CA
13 11.17 PTPN11 IFNG
14 11.14 PTPN11 PIK3CA
15 11.06 PTPN11 PIK3CA
16 11 PTPN11 IFNG
17 10.82 PTPN11 PIK3CA
18 10.74 PTPN11 PIK3CA IFNG
19 10.72 PIK3CA IFNG
20 10.65 PTPN11 PIK3CA
21 10.5 PIK3CA IFNG

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 CHRNG CHRND

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

# Name GO ID Score Top Affiliating Genes
1 nervous system process GO:0050877 9.48 CHRNG CHRND
2 T cell costimulation GO:0031295 9.46 PTPN11 PIK3CA
3 epidermal growth factor receptor signaling pathway GO:0007173 9.4 PTPN11 PIK3CA
4 regulation of postsynaptic membrane potential GO:0060078 9.37 CHRNG CHRND
5 response to nicotine GO:0035094 9.32 CHRNG CHRND
6 neuromuscular synaptic transmission GO:0007274 9.26 CHRNG CHRND
7 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.13 PIK3CA
8 axon guidance GO:0007411 9.13 PTPN11 PIK3CA DSCAM
9 regulation of multicellular organism growth GO:0040014 8.85 PIK3CA
10 synaptic transmission, cholinergic GO:0007271 8.62 CHRNG CHRND

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

# Name GO ID Score Top Affiliating Genes
1 receptor tyrosine kinase binding GO:0030971 9.43 PTPN11 PCNA
2 extracellular ligand-gated ion channel activity GO:0005230 9.4 CHRNG CHRND
3 acetylcholine-gated cation-selective channel activity GO:0022848 9.26 CHRNG CHRND
4 acetylcholine binding GO:0042166 9.16 CHRNG CHRND
5 1-phosphatidylinositol-3-kinase activity GO:0016303 9.07 PIK3CA
6 ligand-gated ion channel activity GO:0015276 9.02 CHRND
7 acetylcholine receptor activity GO:0015464 8.96 CHRNG CHRND
8 insulin receptor substrate binding GO:0043560 8.62 PTPN11 PIK3CA

Sources for Cystic Lymphangioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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