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 52 15 17
Cystic Hygroma 12 74 52 29 6
Macrocystic Lymphatic Malformation 52 58
Cavernous Lymphangioma 58 71
Lymphangioma, Cystic 43 71
Cavernous Lymphatic Malformation 58
Macrocystic Lymphangioma 58

Characteristics:

Orphanet epidemiological data:

58
macrocystic lymphatic malformation
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:3081
MeSH 43 D018191
NCIt 49 C3724
SNOMED-CT 67 40225001
ICD10 via Orphanet 33 D18.1
UMLS via Orphanet 72 C0205828
Orphanet 58 ORPHA79489
UMLS 71 C0205828 C0206620

Summaries for Cystic Lymphangioma

NIH Rare Diseases : 52 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 capillary lymphangioma and multiple pterygium syndrome, lethal type. An important gene associated with Cystic Lymphangioma is AFP (Alpha Fetoprotein), 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 breast, skin and spleen, and related phenotypes are immune system and muscle

Wikipedia : 74 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 420)
# Related Disease Score Top Affiliating Genes
1 capillary lymphangioma 32.3 PROX1 PECAM1 CD34
2 multiple pterygium syndrome, lethal type 31.8 RAPSN CHRNG CHRND CHRNA1
3 multiple pterygium syndrome, escobar variant 31.3 SERPINA3 RAPSN CHRNG CHRND CHRNA1
4 patau syndrome 30.8 PCNA PAPPA AFP
5 hydrocele 30.7 PECAM1 CALB2 AFP
6 colonic lymphangioma 30.7 PECAM1 CD34 AFP
7 lymphangioma 30.5 PROX1 PIK3CA PECAM1 PCNA IFNG CHRNG
8 hematocele of tunica vaginalis testis 30.4 CALB2 AFP
9 cystadenoma 30.4 SERPINA3 CALB2 AFP
10 pleomorphic lipoma 30.3 SERPINA3 CD34
11 chorioangioma 30.3 PCNA CD34 AFP
12 benign mesothelioma 30.3 PECAM1 CD34 CALB2 AFP
13 chromosomal triplication 30.3 PAPPA AFP
14 liposarcoma 30.2 PIK3CA CD34 CALB2
15 orofaciodigital syndrome viii 30.1 PCNA PAPPA AFP
16 viral hepatitis 30.1 SERPINA3 IFNG AFP
17 cavernous hemangioma 29.9 SERPINA3 PECAM1 CD34 AFP
18 lymphatic system disease 29.7 SERPINA3 IFNG FOXC2 CD34
19 angiosarcoma 29.6 PROX1 PECAM1 CD34 CALB2
20 oligohydramnios 29.4 PCNA PAPPA CHRNG CHRND CHRNA1 AFP
21 ptosis 27.8 SOS1 RAPSN FOXC2 CHRNG CHRND CHRNA1
22 abdominal cystic lymphangioma 12.8
23 hygroma cervical 11.8
24 mixed cystic lymphatic malformation 11.4
25 rare lymphatic malformation 11.3
26 turner syndrome 10.7
27 gonadal dysgenesis 10.7
28 mixed hepatoblastoma 10.5 SERPINA3 AFP
29 giant hemangioma 10.5 SERPINA3 AFP
30 testicular malignant germ cell cancer 10.5 SERPINA3 AFP
31 malignant leydig cell tumor 10.5 CALB2 AFP
32 middle ear adenocarcinoma 10.5 PECAM1 AFP
33 malignant sertoli cell tumor 10.4 CALB2 AFP
34 rete testis neoplasm 10.4 CALB2 AFP
35 ovarian solid teratoma 10.4 CD34 AFP
36 microphthalmia, isolated 1 10.4 CHRNG CHRND
37 rete testis adenocarcinoma 10.4 CALB2 AFP
38 adult type testicular granulosa cell tumor 10.4 CALB2 AFP
39 testicular granulosa cell tumor 10.4 CALB2 AFP
40 ovarian mucinous cystadenocarcinoma 10.4 SERPINA3 PCNA
41 dermoid cyst of ovary 10.4 CALB2 AFP
42 skin epithelioid hemangioma 10.4 PECAM1 CD34
43 volvulus of midgut 10.4
44 appendicitis 10.4
45 rare tumor 10.4
46 mesenchymoma 10.4 SERPINA3 CD34
47 prostate angiosarcoma 10.4 PECAM1 CD34
48 pericardial tuberculosis 10.4 IFNG CALB2
49 central nervous system angiosarcoma 10.4 PECAM1 CD34
50 liver inflammatory pseudotumor 10.4 CD34 AFP

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



Diseases related to Cystic Lymphangioma

Symptoms & Phenotypes for Cystic Lymphangioma

MGI Mouse Phenotypes related to Cystic Lymphangioma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.96 CD34 FOXC2 IFNG PCNA PECAM1 PIK3CA
2 muscle MP:0005369 9.81 CHRNG FOXC2 IFNG PECAM1 PIK3CA PROX1
3 nervous system MP:0003631 9.65 CALB2 CHRNA1 CHRNG FOXC2 IFNG PIK3CA
4 respiratory system MP:0005388 9.17 CHRNG FOXC2 IFNG PECAM1 PROX1 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:

40
Breast, Skin, Spleen, Pancreas, Heart, Colon, Liver

Publications for Cystic Lymphangioma

Articles related to Cystic Lymphangioma:

(show top 50) (show all 2055)
# Title Authors PMID Year
1
Αdnexal cystic lymphangiomas in patients with massive leiomyomatous uterus: a not so uncommon finding on pelvic MRI. 61
31218386 2020
2
[Contribution of array CGH in the management of fetal nuchal translucency]. 61
31634590 2020
3
Fetal Genetic Diagnosis by Chorionic Villus Sampling: Evaluation of the Five-Year Experience from a Single Center. 61
31900003 2020
4
Giant Cystic Mediastinal Lymphangioma. 61
32015966 2020
5
Congenital cervical choristoma of the neck mimicking cystic lymphangioma. 61
31983630 2020
6
Laparoscopic resection of abdominal cystic lymphangioma derived from lesser omentum: Case report. 61
31895826 2020
7
Retroperitoneal cystic lymphangioma as an incidental finding in a patient with pancreatitis symptoms. 61
30948211 2019
8
Mediastinal cystic lymphangioma in an infant: 123I-MIBG scintigraphy in the differential diagnosis of neuroblastoma. 61
31757408 2019
9
[Orbital cystic lymphangioma in a child: Case report]. 61
31208904 2019
10
A Rare Presentation of Sudden Death due to Pulmonary Thromboembolism Possibly as a Result of Giant Hepatic Hemangioma. 61
31116429 2019
11
Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. 61
31278392 2019
12
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era. 61
31040167 2019
13
Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey. 61
31867191 2019
14
Abdominal cystic lymphangioma: to operate or not to operate? 61
31625257 2019
15
[Application of chromosomal microarray analysis in prenatal diagnosis of fetuses with increased nuchal translucency]. 61
31598938 2019
16
Cystic lymphangioma in the peripheral jejunal mesentery in an adult and excision with laparoscopic-assisted surgery: a case report. 61
31651341 2019
17
Dilemma in management of cervico-facial cystic hygroma. 61
31649229 2019
18
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. 61
31336229 2019
19
Magnetic resonance imaging of adrenal gland: state of the art. 61
31559189 2019
20
Adrenal Cystic Lymphangioma: An Unexpected Pathological Finding in a Constellation of Uncontrolled Hypertension and Hypercalcemia. 61
31723502 2019
21
Incidentally found cystic lymphangioma of the adrenal gland in an elderly male cadaver. 61
31620643 2019
22
Novel clinical phenotype of generalised lymphatic dysplasia in a neonate: a missed diagnosis. 61
31471355 2019
23
Gastric duplication cyst mimicking large cystic lymphangioma in an adult: A rare case report and review of the literature. 61
31423442 2019
24
Large intra-abdominal cystic lymphangioma managed by laparoscopic partial excision and modified drain with no need for open resection. 61
31439566 2019
25
Rare case of cystic hygroma in the epidural space resulting in multilevel spinal cord compression. 61
31466987 2019
26
A case report of Turner syndrome associated with fetal nuchal cystic hygroma and bilateral syndactyly of the hands and feet. 61
31319890 2019
27
Cystic hygroma and micromelic lower limbs: First-trimester sonographic markers of campomelic dysplasia. 61
31133349 2019
28
Analysis of cystic hygroma diagnosed in the first trimester: single-center experience 61
31298510 2019
29
Analysis of predisposing factors for chronic subdural hematoma recurrence. 61
31340313 2019
30
[Prognosis of fetuses with cystichygroma and nuchal translucency/nuchal fold thickening on prenatal echography]. 61
31901049 2019
31
Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature. 61
31124053 2019
32
Primary Supraclavicular Cystic Lymphangioma in an Adult: A Rare Presentation. 61
31142406 2019
33
[Lymphangioma of the penis]. 61
31162904 2019
34
Analysis of cystic hygroma diagnosed in the prenatal period: 5-years' experience at a tertiary hospital in Southeastern Turkey. 61
29241391 2019
35
Cystic lymphangioma of the breast. 61
30972857 2019
36
Giant intra-abdominal cystic lymphangioma. 61
30613066 2019
37
Prenatal ultrasound diagnosis of fetal chest wall cystic lymphangioma: An Italian case series. 61
30909010 2019
38
Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis. 61
30838783 2019
39
An adrenal cystic lymphangioma: A case report of a rare tumor. 61
31211054 2019
40
Pregnancy outcomes in patients with multiple sclerosis treated with teriflunomide: Clinical study data and 5 years of post-marketing experience. 61
30968734 2019
41
Ileal volvulus secondary to cystic lymphangioma: A rare case report with a literature review. 61
31143702 2019
42
Cystic lesion of pectoralis minor muscle: learning from mistakes. 61
30963055 2019
43
Adult-onset giant cervical cystic hygroma with pressure manifestations on aerodigestive tract, managed surgically: reporting of a rare case. 61
30602293 2019
44
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. 61
29907801 2019
45
Cystic Hygroma: A Preliminary Genetic Study and a Short Review from the Literature. 61
30475086 2019
46
Intra-Abdominal Cystic Lymphangioma. 61
30318372 2019
47
Massive adult cystic lymphangioma of the breast. 61
30792842 2019
48
Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency. 61
30818867 2019
49
Cystic mesenteric lymphangioma: A case report. 61
31399398 2019
50
Elbow Cystic Lymphangioma in an 8-Month-Old Boy. 61
30886754 2019

Variations for Cystic Lymphangioma

ClinVar genetic disease variations for Cystic Lymphangioma:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XX;t(6;17)(q13;q21)dnTranslocation Likely pathogenic 267930

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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 SOS1 PTPN11 PIK3CA IFNG
2
Show member pathways
12.38 SOS1 PTPN11 PIK3CA IFNG
3
Show member pathways
12.23 SOS1 PTPN11 PIK3CA PCNA
4
Show member pathways
12.16 SOS1 PTPN11 PIK3CA IFNG
5
Show member pathways
12.14 SOS1 PTPN11 PIK3CA IFNG
6
Show member pathways
12.05 SOS1 PTPN11 PIK3CA PECAM1
7
Show member pathways
11.74 SOS1 PTPN11 PIK3CA
8
Show member pathways
11.69 SOS1 PTPN11 PIK3CA
9
Show member pathways
11.68 SOS1 PTPN11 PIK3CA IFNG
10
Show member pathways
11.64 CHRNG CHRND CHRNA1
11
Show member pathways
11.56 PTPN11 PIK3CA IFNG
12
Show member pathways
11.54 SOS1 PTPN11 PIK3CA
13
Show member pathways
11.49 SOS1 PTPN11 PIK3CA
14 11.42 SOS1 PTPN11 PIK3CA
15 11.3 SOS1 PTPN11 PIK3CA
16 11.25 SOS1 PTPN11 IFNG
17 11.21 SOS1 PTPN11 PIK3CA
18
Show member pathways
11.08 SOS1 PTPN11 PIK3CA
19 11.08 SOS1 PTPN11 PIK3CA
20 10.78 SOS1 PTPN11 PIK3CA
21 10.67 CHRND CHRNA1
22 10.53 SOS1 PTPN11 PIK3CA
23 10.14 SOS1 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 postsynaptic membrane GO:0045211 9.46 RAPSN CHRNG CHRND CHRNA1
2 neuromuscular junction GO:0031594 9.13 RAPSN CHRND CHRNA1
3 acetylcholine-gated channel complex GO:0005892 8.8 CHRNG CHRND CHRNA1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.81 RAPSN CHRNG CHRND CHRNA1
2 regulation of membrane potential GO:0042391 9.72 CHRNG CHRND CHRNA1
3 excitatory postsynaptic potential GO:0060079 9.67 CHRNG CHRND CHRNA1
4 regulation of postsynaptic membrane potential GO:0060078 9.63 CHRNG CHRND CHRNA1
5 nervous system process GO:0050877 9.61 CHRNG CHRND CHRNA1
6 epidermal growth factor receptor signaling pathway GO:0007173 9.58 SOS1 PTPN11 PIK3CA
7 leukocyte migration GO:0050900 9.55 SOS1 PTPN11 PIK3CA PECAM1 CD34
8 lymphangiogenesis GO:0001946 9.54 PROX1 FOXC2
9 response to nicotine GO:0035094 9.54 CHRNG CHRND CHRNA1
10 lymph vessel development GO:0001945 9.52 PROX1 FOXC2
11 musculoskeletal movement GO:0050881 9.48 CHRND CHRNA1
12 neuromuscular synaptic transmission GO:0007274 9.43 CHRNG CHRND CHRNA1
13 skeletal muscle tissue growth GO:0048630 9.32 CHRND CHRNA1
14 synaptic transmission, cholinergic GO:0007271 9.26 RAPSN CHRNG CHRND CHRNA1
15 glomerular endothelium development GO:0072011 8.8 PECAM1 FOXC2 CD34

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 9.43 CHRNG CHRND CHRNA1
2 acetylcholine binding GO:0042166 9.33 CHRNG CHRND CHRNA1
3 insulin receptor substrate binding GO:0043560 9.32 PTPN11 PIK3CA
4 acetylcholine-gated cation-selective channel activity GO:0022848 9.13 CHRNG CHRND CHRNA1
5 acetylcholine receptor activity GO:0015464 8.8 CHRNG CHRND CHRNA1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....