MCID: CYS002
MIFTS: 46

Cystic Lymphangioma malady

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

Aliases & Classifications for Cystic Lymphangioma

Aliases & Descriptions for Cystic Lymphangioma:

Name: Cystic Lymphangioma 12 50 14
Cystic Hygroma 12 50 29
Macrocystic Lymphatic Malformation 50 56
Cavernous Lymphangioma 56 69
Lymphangioma, Cystic 42 69
Cavernous Lymphatic Malformation 56
Macrocystic Lymphangioma 56

Characteristics:

Orphanet epidemiological data:

56
macrocystic lymphatic malformation
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:3081
MeSH 42 D018191
NCIt 47 C3724
Orphanet 56 ORPHA79489
ICD10 via Orphanet 34 D18.1
UMLS 69 C0206620

Summaries for Cystic Lymphangioma

NIH Rare Diseases : 50 cystic hygroma (meaning “moist tumor”) or macrocystic lymphatic malformation, is a fluid-filled sac that result from a blockage in the lymphatic system. a cystic hygroma may be discovered in a fetus during a pregnancy ultrasound (fetal cystic hygroma), present as a birth defect (congenital) in a newborn as a large, soft mass covered by normal skin, or it may not become evident until later in life. they are most commonly located in the neck, head, axilla, or chest but can be anywhere in the body. the causes include environmental factors, genetic factors, or unknown factors. about 50% of the fetal cystic hygromas are due to a chromosomal abnormality such as turner syndrome, down syndrome or noonan syndrome. they can be isolated or be associated with other birth defect, as part of a syndrome. isolated cystic hygroma may be inherited as an autosomal recessive disorder.. in adults they may result from delayed proliferation of the congenital or acquired lymphoid rests following trauma or earlier respiratory infections. the preferred treatment is the surgical removal of the tumor. other treatment may include serial thoracocentesis plus paracentesis, laser surgery and radiation therapy.  last updated: 2/26/2016

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 IFNG (Interferon Gamma), and among its related pathways/superpathways are Activation of Nicotinic Acetylcholine Receptors and TGF-beta signaling pathway (KEGG). 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 Increased HPV16-GFP infection and embryo

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 62)
id Related Disease Score Top Affiliating Genes
1 abdominal cystic lymphangioma 12.4
2 cavernous lymphangioma 12.2
3 cystic hygroma lethal cleft palate 12.0
4 nuchal bleb, familial 11.9
5 mixed cystic lymphatic malformation 10.9
6 lymphangioma 10.9
7 mediastinitis 10.2
8 lymphatic malformations 10.2
9 pancreatitis 10.2
10 uterine disease 10.1 AFP PIK3CA
11 spastic paraplegia 1 10.1 IFNG PIK3CA
12 cervicitis 10.1
13 pediatric liposarcoma 10.1 AFP NODAL
14 cervical adenitis 10.0 FLVCR2 NODAL
15 paraurethral gland cancer 10.0 AFP CHRNG
16 hypotrichosis of eyelid 10.0 AFP NODAL
17 hereditary spastic paraplegia 10.0 AFP IFNG PIK3CA
18 appendicitis 10.0
19 hemolytic-uremic syndrome 9.9 AFP IFNG
20 inverse marcus-gunn phenomenon 9.9 CHRND DOK7
21 acneiform dermatitis 9.9 CHRND DOK7
22 mesomelic dysplasia, kantaputra type 9.9 CHRND CHRNG
23 duodenitis 9.9
24 amelogenesis imperfecta, type iia5 9.8 CHRND CHRNG
25 splenomegaly 9.8
26 intestinal obstruction 9.8
27 intussusception 9.8
28 cystic teratoma 9.8
29 teratoma 9.8
30 hemangioendothelioma 9.8
31 hepatitis 9.8
32 adenomatoid tumor 9.8
33 snowflake vitreoretinal degeneration 9.8 CHRND CHRNG
34 tooth agenesis, selective, 1, with or without orofacial cleft 9.7 CHRND CHRNG DOK7
35 cascade stomach 9.7 AFP CHRND CHRNG
36 lymphoma 9.6
37 situs inversus 9.6
38 esophagitis 9.6
39 wandering spleen 9.6
40 hiatus hernia 9.6
41 peritonitis 9.6
42 aneurysm 9.6
43 urethritis 9.6
44 back pain 9.6
45 retiform hemangioendothelioma 9.6
46 pneumothorax 9.6
47 melanoma 9.6
48 choledochal cyst 9.6
49 hodgkin lymphoma 9.6
50 celiac disease 9.6

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

MGI Mouse Phenotypes related to Cystic Lymphangioma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.72 PIK3CA CHRNG FLVCR2 IFNG NODAL
2 muscle MP:0005369 9.65 CHRNG DOK7 IFNG NODAL PIK3CA
3 neoplasm MP:0002006 9.46 AFP FLVCR2 IFNG PIK3CA
4 nervous system MP:0003631 9.43 CHRNG DOK7 FLVCR2 IFNG NODAL PIK3CA
5 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):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Picibanil Phase 2, Phase 3
2
Pancrelipase Approved Early Phase 1 53608-75-6
3 pancreatin Early Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Picibanil (OK432) Sclerotherapy in Children With Macrocystic Lymphatic Malformations Completed NCT00010452 Phase 2, Phase 3
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 Recruiting NCT02494388 Early Phase 1

Search NIH Clinical Center for Cystic Lymphangioma

Cochrane evidence based reviews: lymphangioma, cystic

Genetic Tests for Cystic Lymphangioma

Genetic tests related to Cystic Lymphangioma:

id Genetic test Affiliating Genes
1 Cystic Hygroma 29

Anatomical Context for Cystic Lymphangioma

MalaCards organs/tissues related to Cystic Lymphangioma:

39
Pancreas, Skin, Colon, Spleen, Breast, Adrenal Gland, Tongue

Publications for Cystic Lymphangioma

Articles related to Cystic Lymphangioma:

(show top 50) (show all 399)
id Title Authors Year
1
Drop-Attacks Revealing a Cervical Cystic Lymphangioma. ( 26620381 )
2016
2
CT Appearance of Adrenal Cystic Lymphangioma: Radiologic-Pathologic Correlation. ( 26700338 )
2016
3
Splenic cystic lymphangioma. ( 27318865 )
2016
4
Giant cystic lymphangioma originating from the cardia of the stomach: A case report. ( 27168832 )
2016
5
Diagnosis of cystic lymphangioma of the colon by endoscopic ultrasound: Biopsy is not needed! ( 27803907 )
2016
6
Cystic Lymphangioma of Pancreas. ( 27065694 )
2016
7
Adult cystic lymphangioma in the inner quadrant of the breast-Rare location for a rare disease: A case report. ( 26852362 )
2016
8
Laparoscopic Treatment of Intraabdominal Cystic Lymphangioma. ( 27452935 )
2016
9
Cystic Lymphangioma of the Pancreas: a Rare Entity. ( 27334312 )
2016
10
Emergency presentation of cystic lymphangioma of the colon: A case report and literature review. ( 27266826 )
2016
11
Giant retroperitoneal cystic lymphangioma in a patient with Eisenmenger syndrome. ( 26590885 )
2016
12
Utility of conservative treatment in cystic lymphangioma. ( 27087134 )
2016
13
Volvulus of the jejunum on cystic lymphangioma: About a clinical case. ( 27251660 )
2016
14
Splenic cystic lymphangioma with atypical ultrasound findings. ( 26703174 )
2016
15
Case Report: Multivisceral Transplantation for an Extensive Cystic Lymphangioma of the Mesenteric Root. ( 27109997 )
2016
16
Unusual Presentation of Giant Omental Cystic Lymphangioma Mimicking Haemorrhagic Ascites in a Child. ( 26704862 )
2015
17
Intra-abdominal cystic lymphangioma in an adult female masquerading ovarian tumor. ( 26905145 )
2015
18
Cystic lymphangioma: A differential diagnosis. ( 26980972 )
2015
19
Two unusual sites of cystic lymphangioma in a child: A report of imaging profile with surgical and histopathologic findings. ( 26436083 )
2015
20
Thoracic Cystic Lymphangioma in an Elderly Patient. ( 25800326 )
2015
21
A sudden pain in the neck: an atypical presentation of cystic lymphangioma. ( 25795753 )
2015
22
Bilateral Cystic Lymphangioma of Ovary Associated with Chylous Ascites. ( 26435959 )
2015
23
Incidental Cystic Lymphangioma of the Small Bowel Mesentery. ( 26605129 )
2015
24
Treatment of cystic lymphangioma by transcatheter lymphatic sclerotherapy and embolization. ( 25735533 )
2015
25
Enlarging cystic lymphangioma of the mediastinum in an adult: is this a neoplastic lesion related to the recently discovered PIK3CA mutation? ( 26191320 )
2015
26
Laparoscopic excision of an adult retroperitoneal cystic lymphangioma coexisting with an esophageal hiatus hernia. ( 25998607 )
2015
27
Hemorrhagic giant cystic lymphangioma of the liver in an adult female. ( 25832463 )
2015
28
Adrenal cystic lymphangioma presented with hypertension: a case report. ( 26034745 )
2015
29
A giant abdominal cystic tumour: Mesentery cystic lymphangioma. ( 26143717 )
2015
30
Cystic lymphangioma of the adrenal gland: report of a case and review of the literature. ( 25889625 )
2015
31
A Case of Mediastinal Cystic Lymphangioma. ( 26690247 )
2015
32
Rare Tumors, Rare Association: Ovarian Strumal Carcinoid - Retroperitoneal Cystic Lymphangioma. ( 26158742 )
2015
33
Laparoscopic resection of a huge retroperitoneal cystic lymphangioma after successful reduction of tumor size with a double balloon catheter. ( 25898335 )
2015
34
Adrenal Cystic Lymphangioma. ( 26426195 )
2015
35
Identification of a pediatric intra-abdominal cystic lymphangioma using point-of-care ultrasonography. ( 25560624 )
2015
36
Pancreatic cystic lymphangioma diagnosed with endoscopic ultrasonographic-fine needle aspiration; a rare mesenchymal tumor. ( 26448423 )
2015
37
Huge cystic lymphangioma of the mediastinum successfully treated with thoracoscopic surgery. ( 25468104 )
2014
38
Cystic lymphangioma of the rectus abdominis muscle: an extremely rare clinical entity. ( 25793081 )
2014
39
Unusual sites of cystic lymphangioma in children. ( 25282458 )
2014
40
Single-site laparoscopic excision of mesocolic cystic lymphangioma - a video vignette. ( 24617916 )
2014
41
Abdominal cystic lymphangioma complicated by mesenteric volvulus: a case report. ( 25504400 )
2014
42
Mesenteric cystic lymphangioma mimicking malignancy. ( 25178885 )
2014
43
Mediastinal cystic lymphangioma in a patient with situs inversus totalis. ( 25431732 )
2014
44
Chronic Low Back Pain due to Retroperitoneal Cystic Lymphangioma. ( 25207319 )
2014
45
A rare entity: Cystic lymphangioma of the duodenal bulb and successful treatment with polypectomy in an adult patient. ( 25254526 )
2014
46
Pancreatic cystic lymphangioma: diagnostic approach with MDCT and MR imaging. ( 25073240 )
2014
47
Cystic lymphangioma of the chest wall: a case report. ( 25606029 )
2014
48
Cystic lymphangioma of adrenal gland: a clinicopathological study of 3 cases and review of literature. ( 25197378 )
2014
49
Cystic lymphangioma of the inguinal and scrotal regions in childhood - report of three cases. ( 25125963 )
2014
50
Cystic lymphangioma of pericardium presenting as isolated chylopericardium - a case report. ( 24581109 )
2014

Variations for Cystic Lymphangioma

Cosmic variations for Cystic Lymphangioma:

9
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM584 NRAS skin,neck,benign melanocytic nevus,congenital c.182A>G p.Q61R 3

Expression for Cystic Lymphangioma

Search GEO for disease gene expression data for Cystic Lymphangioma.

Pathways for Cystic Lymphangioma

GO Terms for Cystic Lymphangioma

Cellular components related to Cystic Lymphangioma according to GeneCards Suite gene sharing:

id 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:

id Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.46 NODAL PIK3CA
2 cation transmembrane transport GO:0098655 9.43 CHRND CHRNG
3 excitatory postsynaptic potential GO:0060079 9.4 CHRND CHRNG
4 SMAD protein signal transduction GO:0060395 9.37 AFP NODAL
5 regulation of postsynaptic membrane potential GO:0060078 9.32 CHRND CHRNG
6 response to nicotine GO:0035094 9.26 CHRND CHRNG
7 neuromuscular synaptic transmission GO:0007274 9.16 CHRND CHRNG
8 synaptic transmission, cholinergic GO:0007271 8.96 CHRND CHRNG
9 vasculature development GO:0001944 8.62 NODAL PIK3CA

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

id Name GO ID Score Top Affiliating Genes
1 extracellular ligand-gated ion channel activity GO:0005230 9.26 CHRND CHRNG
2 ligand-gated ion channel activity GO:0015276 9.16 CHRND CHRNG
3 acetylcholine binding GO:0042166 8.96 CHRND CHRNG
4 acetylcholine-gated cation-selective channel activity GO:0022848 8.62 CHRND CHRNG

Sources for Cystic Lymphangioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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