MCID: CYS002
MIFTS: 44

Cystic Lymphangioma

Categories: Cancer diseases, Immune diseases, Rare diseases

Aliases & Classifications for Cystic Lymphangioma

MalaCards integrated aliases for Cystic Lymphangioma:

Name: Cystic Lymphangioma 12 54 15 17
Cystic Hygroma 12 77 54 30 6
Lymphangioma, Cystic 45 74
Macrocystic Lymphatic Malformation 54
Cavernous Lymphangioma 74

Classifications:



External Ids:

Disease Ontology 12 DOID:3081
MeSH 45 D018191
NCIt 51 C3724
SNOMED-CT 69 40225001

Summaries for Cystic Lymphangioma

NIH Rare Diseases : 54 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 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 uterus, and related phenotypes are Decreased HPV16-GFP infection and mortality/aging

Wikipedia : 77 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

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

(show top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 multiple pterygium syndrome, lethal type 31.9 CHRND CHRNG
2 multiple pterygium syndrome, escobar variant 29.8 CHRND CHRNG
3 oligohydramnios 29.5 AFP CHRND CHRNG
4 abdominal cystic lymphangioma 12.7
5 hygroma cervical 11.3
6 lymphatic malformations 11.3
7 microcystic lymphatic malformation 11.3
8 mixed cystic lymphatic malformation 11.3
9 lymphangioma 11.2
10 turner syndrome 10.4
11 lymphatic malformation 7 10.4
12 fetal edema 10.4
13 hydrops fetalis 10.4
14 chromosomal triplication 10.3
15 appendicitis 10.3
16 down syndrome 10.2
17 patau syndrome 10.2
18 lymphangiomatosis 10.2
19 mature teratoma 10.1 AFP PCNA
20 noonan syndrome 1 10.1
21 pseudo-turner syndrome 10.1
22 neonatal myasthenia gravis 10.1 AFP CHRNG
23 testicular disease 10.1 AFP IFNG
24 nuchal bleb, familial 10.1
25 intestinal obstruction 10.1
26 hemangioendothelioma 10.1
27 erdheim-chester disease 10.1 PIK3CA SERPINA3
28 scrotal carcinoma 10.1 AFP SERPINA3
29 hepatitis a 10.1 AFP IFNG
30 diaphragmatic hernia, congenital 10.0
31 macroglossia 10.0
32 wolf-hirschhorn syndrome 10.0
33 fryns syndrome 10.0
34 sleep apnea 10.0
35 omphalocele 10.0
36 achondrogenesis 10.0
37 hereditary spherocytosis 10.0
38 aortic coarctation 10.0
39 chromosome 4p deletion 10.0
40 lymphangiectasis 10.0
41 intussusception 10.0
42 ascites, chylous 10.0
43 focal dermal hypoplasia 10.0
44 cystic teratoma 10.0
45 teratoma 10.0
46 adenomatoid tumor 10.0
47 intestinal volvulus 10.0
48 splenomegaly 10.0
49 hepatitis b 10.0 AFP IFNG PIK3CA
50 testicular yolk sac tumor 10.0 AFP SERPINA3

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:

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.7 AFP CHRNG DSCAM HIRA IFNG PCNA
2 muscle MP:0005369 9.35 CHRNG DSCAM HIRA IFNG PIK3CA
3 no phenotypic analysis MP:0003012 9.02 DSCAM HIRA IFNG PCNA PIK3CA

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 30

Anatomical Context for Cystic Lymphangioma

MalaCards organs/tissues related to Cystic Lymphangioma:

42
Pancreas, Skin, Uterus, Spleen, Colon, Breast, Heart

Publications for Cystic Lymphangioma

Articles related to Cystic Lymphangioma:

(show top 50) (show all 916)
# Title Authors Year
1
Intra-Abdominal Cystic Lymphangioma. ( 30318372 )
2019
2
Giant intra-abdominal cystic lymphangioma. ( 30613066 )
2019
3
Prenatal ultrasound diagnosis of fetal chest wall cystic lymphangioma: An Italian case series. ( 30909010 )
2019
4
Retroperitoneal cystic lymphangioma as an incidental finding in a patient with pancreatitis symptoms. ( 30948211 )
2019
5
Cystic lymphangioma of the breast. ( 30972857 )
2019
6
Management of a large cystic lymphangioma causing intestinal obstruction. ( 28477401 )
2019
7
Giant cystic lymphangioma of adrenal gland: A case report and review of the literature. ( 30306048 )
2019
8
Massive adult cystic lymphangioma of the breast. ( 30792842 )
2019
9
Elbow Cystic Lymphangioma in an 8-Month-Old Boy. ( 30886754 )
2019
10
Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis. ( 30838783 )
2019
11
Analysis of cystic hygroma diagnosed in the prenatal period: 5-years' experience at a tertiary hospital in Southeastern Turkey. ( 29241391 )
2019
12
Cystic Hygroma: A Preliminary Genetic Study and a Short Review from the Literature. ( 30475086 )
2019
13
Adult-onset giant cervical cystic hygroma with pressure manifestations on aerodigestive tract, managed surgically: reporting of a rare case. ( 30602293 )
2019
14
Single-port laparoscopic-assisted resection for a large abdominal cystic lymphangioma: a case report. ( 30105531 )
2018
15
Ileal Cystic Lymphangioma presenting with Acute Appendicitis. ( 29386763 )
2018
16
Unusual Presentation of Giant Omental Cystic Lymphangioma Mimicking Hemorrhagic Ascites in a Child. ( 26704862 )
2018
17
Imaging findings of axillary cystic lymphangioma in adult. ( 28735807 )
2018
18
Rare Case of Pancreatic Cystic Lymphangioma. ( 29151529 )
2018
19
Percutaneous full endoscopic treatment of cystic lymphangioma of cauda equina: a case report. ( 29658356 )
2018
20
Cystic Lymphangioma: Are Triglycerides Always Measurable? ( 29686910 )
2018
21
Retroperitoneal cystic lymphangioma in an adult: A case report. ( 29785367 )
2018
22
A young woman with steroid-responsive, IgG4-positive plasma cell-enriched cystic lymphangioma and chylous ascites. ( 29881573 )
2018
23
Cystic lymphangioma of pancreas: A rare case report and review of the literature. ( 29995757 )
2018
24
Adult Cystic Lymphangioma of the Parotid Gland: An Unwonted Presentation. ( 30034966 )
2018
25
Congenital superior caval vein aneurysm in a newborn with cystic lymphangioma: a rare case report. ( 30043721 )
2018
26
Cystic lymphangioma of nasopharynx in a 54-year-old man - case report. A new histogenetic hypothesis. ( 30173266 )
2018
27
Cystic lymphangioma of the pancreas: a hard diagnostic challenge between pancreatic cystic lesions-review of recent literature. ( 30505770 )
2018
28
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
29
First-trimester cystic hygroma and omphalocele in a fetus with Turner syndrome. ( 30342669 )
2018
30
Predicting the intrauterine fetal death of fetuses with cystic hygroma in early pregnancy. ( 29322592 )
2018
31
Fatal Airway Obstruction in a Man With a Cystic Hygroma. ( 29782340 )
2018
32
First trimester cystic hygroma colli: Retrospective analysis in a tertiary center. ( 30321790 )
2018
33
Abdominal cystic lymphangioma in a term newborn: A case report and update of new treatments. ( 28225486 )
2017
34
Splenic cystic lymphangioma. ( 27318865 )
2017
35
Cystic lymphangioma of spleen in adults. ( 28122799 )
2017
36
Incidental finding of 131I uptake in mesenteric cystic lymphangioma on post-therapy 131I SPECT/CT imaging. ( 28215398 )
2017
37
Gastrointestinal: Giant mesenteric cystic lymphangioma. ( 28221691 )
2017
38
Recurring Giant Mediastinal Cystic Lymphangioma. ( 28363031 )
2017
39
Cystic lymphangioma in a 44-year-old woman. ( 28451011 )
2017
40
Cystic Lymphangioma of the Colon: Endoscopic Removal beyond the Frontiers of Size. ( 28512390 )
2017
41
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
42
A Rare Cause of Dyspnea: Cervicothoracic Cystic Lymphangioma. ( 28872508 )
2017
43
Cystic lymphangioma of the lesser omentum in a pregnant woman: a case report and review of the literature. ( 28976139 )
2017
44
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
45
Epididymal Cystic Lymphangioma Presenting as Scrotal Swelling in a Post Surgery Case of Carcinoma Rectum- A Case Report. ( 29207807 )
2017
46
Thoracoscopic resection of a huge mediastinal cystic lymphangioma. ( 29268428 )
2017
47
The use of sirolimus in the treatment of giant cystic lymphangioma: Four case reports and update of medical therapy. ( 29390423 )
2017
48
A histopathological diagnosis of mesenteric cystic lymphangioma, clinically misdiagnosed as simple mesenteric cyst - case report. ( 29556652 )
2017
49
Cystic Lymphangioma of the Mesenteric Root in an Adolescent, an Operative Challenge. ( 30454349 )
2017
50
Cystic Hygroma. ( 27152733 )
2017

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 9.37 CHRND CHRNG
2 nervous system process GO:0050877 9.32 CHRND CHRNG
3 regulation of postsynaptic membrane potential GO:0060078 9.26 CHRND CHRNG
4 response to nicotine GO:0035094 9.16 CHRND CHRNG
5 neuromuscular synaptic transmission GO:0007274 8.96 CHRND CHRNG
6 synaptic transmission, cholinergic GO:0007271 8.62 CHRND CHRNG

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 acetylcholine binding GO:0042166 9.16 CHRND CHRNG
3 ligand-gated ion channel activity GO:0015276 8.96 CHRND
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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