MCID: CYS002
MIFTS: 48

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 multiple pterygium syndrome, lethal type and multiple pterygium syndrome, escobar variant. An important gene associated with Cystic Lymphangioma is AFP (Alpha Fetoprotein), and among its related pathways/superpathways are Immune response Role of DAP12 receptors in NK cells and Development IGF-1 receptor signaling. The drug Picibanil has been mentioned in the context of this disorder. Affiliated tissues include pancreas, spleen and skin, and related phenotypes are homeostasis/metabolism and immune system

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 419)
# Related Disease Score Top Affiliating Genes
1 multiple pterygium syndrome, lethal type 32.2 RAPSN CHRNG CHRND CHRNA1
2 multiple pterygium syndrome, escobar variant 32.0 RAPSN CHRNG CHRND CHRNA1
3 capillary lymphangioma 31.7 PROX1 PECAM1 PDPN CD34
4 patau syndrome 31.0 PCNA PAPPA AFP
5 lymphangioma 30.9 SERPINA3 PROX1 PIK3CA PECAM1 PDPN IFNG
6 hydrocele 30.8 PECAM1 CALB2 AFP
7 adenomatoid tumor 30.6 CD34 CALB2 AFP
8 chorioangioma 30.5 CD34 AFP
9 benign mesothelioma 30.5 PECAM1 CD34 CALB2 AFP
10 cystadenoma 30.5 SERPINA3 CALB2 AFP
11 cavernous hemangioma 30.5 PECAM1 CD34 AFP
12 chromosomal triplication 30.4 PAPPA AFP
13 pleomorphic lipoma 30.3 SERPINA3 CD34
14 orofaciodigital syndrome viii 30.3 PCNA PAPPA AFP
15 liposarcoma 30.3 PIK3CA CD34 CALB2
16 colonic lymphangioma 30.1 PECAM1 PDPN CD34 AFP
17 hemangioma 30.1 PROX1 PECAM1 PDPN CD34
18 hereditary lymphedema i 29.8 PROX1 PDPN FOXC2
19 oligohydramnios 29.7 PCNA PAPPA CHRNG CHRND CHRNA1 AFP
20 fetal akinesia deformation sequence 1 29.3 RAPSN CHRNG CHRND CHRNA1
21 angiosarcoma 29.2 PROX1 PECAM1 PDPN CD34 CALB2
22 ptosis 27.4 SOS1 RAPSN PTPN11 FOXC2 CHRNG CHRND
23 abdominal cystic lymphangioma 12.8
24 hygroma cervical 11.8
25 mixed cystic lymphatic malformation 11.4
26 rare lymphatic malformation 11.3
27 turner syndrome 10.8
28 gonadal dysgenesis 10.7
29 rete testis neoplasm 10.5 CALB2 AFP
30 rete testis adenocarcinoma 10.5 CALB2 AFP
31 adult type testicular granulosa cell tumor 10.5 CALB2 AFP
32 testicular granulosa cell tumor 10.5 CALB2 AFP
33 dermoid cyst of ovary 10.5 CALB2 AFP
34 ovarian mixed germ cell neoplasm 10.5 PIK3CA AFP
35 ovarian solid teratoma 10.5 CD34 AFP
36 mixed hepatoblastoma 10.5 SERPINA3 AFP
37 papillary thymic adenocarcinoma 10.5 CALB2 AFP
38 epididymal neoplasm 10.5 CALB2 AFP
39 skin epithelioid hemangioma 10.5 PECAM1 CD34
40 giant hemangioma 10.5 SERPINA3 AFP
41 aortic malignant tumor 10.5 PECAM1 CD34
42 liver inflammatory pseudotumor 10.5 CD34 AFP
43 prostate angiosarcoma 10.5 PECAM1 CD34
44 papillary adenofibroma 10.5 CD34 AFP
45 central nervous system angiosarcoma 10.5 PECAM1 CD34
46 intravascular angioleiomyoma 10.5 PECAM1 CD34
47 middle ear adenocarcinoma 10.5 PECAM1 AFP
48 microphthalmia, isolated 1 10.4 CHRNG CHRND
49 heart fibrosarcoma 10.4 PECAM1 CD34
50 central nervous system hemangioma 10.4 PECAM1 CD34

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 homeostasis/metabolism MP:0005376 10.25 AFP CD34 CHRNG FOXC2 IFNG PAPPA
2 immune system MP:0005387 10.11 CD34 FOXC2 IFNG PCNA PDPN PECAM1
3 mortality/aging MP:0010768 10.03 AFP CHRNA1 CHRNG FOXC2 IFNG PCNA
4 digestive/alimentary MP:0005381 9.98 FOXC2 IFNG PDPN PECAM1 PROX1 PTPN11
5 integument MP:0010771 9.92 CD34 CHRNG IFNG PDPN PIK3CA PTPN11
6 muscle MP:0005369 9.85 CHRNG FOXC2 IFNG PDPN PECAM1 PIK3CA
7 respiratory system MP:0005388 9.56 CHRNG FOXC2 IFNG PDPN PECAM1 PROX1
8 skeleton MP:0005390 9.28 CHRNA1 FOXC2 IFNG PAPPA PDPN PECAM1

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 Hydrops: Diagnosing & Redefining Outcomes With Precision Study Recruiting NCT03412760
3 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
Pancreas, Spleen, Skin, Colon, Uterus, Breast, Adrenal Gland

Publications for Cystic Lymphangioma

Articles related to Cystic Lymphangioma:

(show top 50) (show all 2071)
# Title Authors PMID Year
1
Analysis of cystic hygroma diagnosed in the first trimester: Single-center experience 61
31298510 2020
2
Non-adrenal tumors of the adrenal area; what are the pitfalls? 61
32201083 2020
3
The indications for early prenatal diagnosis of trisomy 18: a 7-year experience at mainland China. 61
30317892 2020
4
Pregnancy outcomes in patients with multiple sclerosis treated with teriflunomide: Clinical study data and 5 years of post-marketing experience. 61
30968734 2020
5
A case of intrapulmonary lymphangioma surrounded by pulmonary hilar structures. 61
32576446 2020
6
Adult axillary lymphangioma removal using indocyanine green fluorescence imaging system: A case report. 61
32553939 2020
7
Intra-abdominal cystic lymphangioma of the mesocolon sigmoids: a rare entity in adult patient woman. 61
32440329 2020
8
Spontaneous regression of a cervical giant cystic lymphangioma. 61
32434676 2020
9
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. 61
32424177 2020
10
Chylous mesenteric cyst in children -A case report in a 4-year-old boy. 61
32471968 2020
11
Positron emission tomography/computed tomography findings of multiple cystic lymphangiomas in an adult: A case report. 61
32518789 2020
12
Update on Pregnancy after Heart Transplantation. 61
32464898 2020
13
Cystic lymphangioma of breast: a rare presentation. 61
32341091 2020
14
Cystic mass appended to the greater curvature of the stomach? Cystic lymphangioma of the greater omentum. 61
32284241 2020
15
Bronchogenic cyst of the stomach: A case report. 61
32368546 2020
16
Mediastinal cystic lymphangioma in an infant: 123I-MIBG scintigraphy in the differential diagnosis of neuroblastoma. 61
31757408 2020
17
Αdnexal cystic lymphangiomas in patients with massive leiomyomatous uterus: a not so uncommon finding on pelvic MRI. 61
31218386 2020
18
[Contribution of array CGH in the management of fetal nuchal translucency]. 61
31634590 2020
19
Fetal Genetic Diagnosis by Chorionic Villus Sampling: Evaluation of the Five-Year Experience from a Single Center. 61
31900003 2020
20
Giant Cystic Mediastinal Lymphangioma. 61
32015966 2020
21
Huge omental lymphangioma with haemorrhage in children: case report. 61
32341741 2020
22
Congenital cervical choristoma of the neck mimicking cystic lymphangioma. 61
31983630 2020
23
[Cystic lymphangioma of the rectum-sigmoid in a public hospital in Lima-Peru: case report]. 61
32369468 2020
24
Laparoscopic resection of abdominal cystic lymphangioma derived from lesser omentum: Case report. 61
31895826 2020
25
Efficacy Of Intralesional Bleomycin Injection Sclerotherapy In Macrocystic Lymphangioma In Paediatric Patients. 61
32468753 2020
26
Cystic Lymphangioma of the Greater Omentum: A Case of Partial Spontaneous Regression and Review of the Literature. 61
32082690 2020
27
Retroperitoneal cystic lymphangioma as an incidental finding in a patient with pancreatitis symptoms. 61
30948211 2019
28
[Orbital cystic lymphangioma in a child: Case report]. 61
31208904 2019
29
A Rare Presentation of Sudden Death due to Pulmonary Thromboembolism Possibly as a Result of Giant Hepatic Hemangioma. 61
31116429 2019
30
Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. 61
31278392 2019
31
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
32
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era. 61
31040167 2019
33
Abdominal cystic lymphangioma: to operate or not to operate? 61
31625257 2019
34
Cystic lymphangioma in the peripheral jejunal mesentery in an adult and excision with laparoscopic-assisted surgery: a case report. 61
31651341 2019
35
Dilemma in management of cervico-facial cystic hygroma. 61
31649229 2019
36
[Application of chromosomal microarray analysis in prenatal diagnosis of fetuses with increased nuchal translucency]. 61
31598938 2019
37
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
38
Magnetic resonance imaging of adrenal gland: state of the art. 61
31559189 2019
39
Adrenal Cystic Lymphangioma: An Unexpected Pathological Finding in a Constellation of Uncontrolled Hypertension and Hypercalcemia. 61
31723502 2019
40
Incidentally found cystic lymphangioma of the adrenal gland in an elderly male cadaver. 61
31620643 2019
41
Novel clinical phenotype of generalised lymphatic dysplasia in a neonate: a missed diagnosis. 61
31471355 2019
42
Large intra-abdominal cystic lymphangioma managed by laparoscopic partial excision and modified drain with no need for open resection. 61
31439566 2019
43
Gastric duplication cyst mimicking large cystic lymphangioma in an adult: A rare case report and review of the literature. 61
31423442 2019
44
Rare case of cystic hygroma in the epidural space resulting in multilevel spinal cord compression. 61
31466987 2019
45
A case report of Turner syndrome associated with fetal nuchal cystic hygroma and bilateral syndactyly of the hands and feet. 61
31319890 2019
46
Cystic hygroma and micromelic lower limbs: First-trimester sonographic markers of campomelic dysplasia. 61
31133349 2019
47
Analysis of predisposing factors for chronic subdural hematoma recurrence. 61
31340313 2019
48
Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature. 61
31124053 2019
49
[Prognosis of fetuses with cystichygroma and nuchal translucency/nuchal fold thickening on prenatal echography]. 61
31901049 2019
50
Primary Supraclavicular Cystic Lymphangioma in an Adult: A Rare Presentation. 61
31142406 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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.38 SOS1 PTPN11 PIK3CA IFNG
2
Show member pathways
12.22 SOS1 PTPN11 PIK3CA PCNA
3
Show member pathways
12.16 SOS1 PTPN11 PIK3CA IFNG
4
Show member pathways
12.03 SOS1 PTPN11 PIK3CA PECAM1
5
Show member pathways
11.74 SOS1 PTPN11 PIK3CA
6 11.71 PROX1 PECAM1 PDPN
7
Show member pathways
11.68 SOS1 PTPN11 PIK3CA
8
Show member pathways
11.68 SOS1 PTPN11 PIK3CA IFNG
9
Show member pathways
11.63 CHRNG CHRND CHRNA1
10
Show member pathways
11.56 PTPN11 PIK3CA IFNG
11
Show member pathways
11.53 SOS1 PTPN11 PIK3CA
12
Show member pathways
11.47 SOS1 PTPN11 PIK3CA
13 11.4 SOS1 PTPN11 PIK3CA
14 11.3 SOS1 PTPN11 PIK3CA
15 11.25 SOS1 PTPN11 IFNG
16 11.21 SOS1 PTPN11 PIK3CA
17 11.08 SOS1 PTPN11 PIK3CA
18
Show member pathways
11.07 SOS1 PTPN11 PIK3CA
19 10.78 SOS1 PTPN11 PIK3CA
20 10.67 CHRND CHRNA1
21 10.53 SOS1 PTPN11 PIK3CA
22 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 cell junction GO:0030054 9.73 RAPSN PECAM1 PDPN CHRNG CHRND CHRNA1
2 neuromuscular junction GO:0031594 9.33 RAPSN CHRND CHRNA1
3 postsynaptic membrane GO:0045211 9.26 RAPSN CHRNG CHRND CHRNA1
4 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 16)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.83 RAPSN CHRNG CHRND CHRNA1
2 regulation of membrane potential GO:0042391 9.73 CHRNG CHRND CHRNA1
3 platelet activation GO:0030168 9.72 PTPN11 PIK3CA PDPN
4 excitatory postsynaptic potential GO:0060079 9.69 CHRNG CHRND CHRNA1
5 regulation of postsynaptic membrane potential GO:0060078 9.67 CHRNG CHRND CHRNA1
6 nervous system process GO:0050877 9.65 CHRNG CHRND CHRNA1
7 leukocyte migration GO:0050900 9.65 SOS1 PTPN11 PIK3CA PECAM1 CD34
8 epidermal growth factor receptor signaling pathway GO:0007173 9.61 SOS1 PTPN11 PIK3CA
9 response to nicotine GO:0035094 9.58 CHRNG CHRND CHRNA1
10 lymph vessel development GO:0001945 9.54 PROX1 FOXC2
11 neuromuscular synaptic transmission GO:0007274 9.5 CHRNG CHRND CHRNA1
12 musculoskeletal movement GO:0050881 9.46 CHRND CHRNA1
13 skeletal muscle tissue growth GO:0048630 9.37 CHRND CHRNA1
14 lymphangiogenesis GO:0001946 9.33 PROX1 PDPN FOXC2
15 synaptic transmission, cholinergic GO:0007271 9.26 RAPSN CHRNG CHRND CHRNA1
16 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 neurotransmitter receptor activity GO:0030594 9.5 CHRNG CHRND CHRNA1
2 extracellular ligand-gated ion channel activity GO:0005230 9.43 CHRNG CHRND CHRNA1
3 insulin receptor substrate binding GO:0043560 9.37 PTPN11 PIK3CA
4 acetylcholine binding GO:0042166 9.33 CHRNG CHRND CHRNA1
5 acetylcholine-gated cation-selective channel activity GO:0022848 9.13 CHRNG CHRND CHRNA1
6 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
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