MCID: GNR050
MIFTS: 31

Generalized Lymphatic Anomaly

Categories: Immune diseases
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Aliases & Classifications for Generalized Lymphatic Anomaly

MalaCards integrated aliases for Generalized Lymphatic Anomaly:

Name: Generalized Lymphatic Anomaly 11
Doid:0081031 14

Classifications:



External Ids:

Disease Ontology 11 DOID:0081031

Summaries for Generalized Lymphatic Anomaly

Disease Ontology: 11 A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations.

MalaCards based summary: Generalized Lymphatic Anomaly, also known as doid:0081031, is related to lymphangioma and gorham's disease. An important gene associated with Generalized Lymphatic Anomaly is PROX1 (Prospero Homeobox 1), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Endothelial Growth Factors and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include endothelial, bone and skin, and related phenotypes are Decreased viability and Increased cell migration

Related Diseases for Generalized Lymphatic Anomaly

Diseases related to Generalized Lymphatic Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 lymphangioma 29.6 VEGFC PROX1 PIK3CA PECAM1 LYVE1 FLT4
2 gorham's disease 29.0 VEGFD VEGFC PROX1 PIK3CA PECAM1 LYVE1
3 diffuse lymphatic malformation 11.4
4 cystic angiomatosis of bone, diffuse 10.5
5 lymphangiomatosis 10.4
6 kaposiform lymphangiomatosis 10.3
7 pericardial effusion 10.2
8 hypotrichosis-lymphedema-telangiectasia syndrome 10.2 PROX1 FLT4
9 thyroid tumor 10.2 PIK3CA NRAS
10 lymphatic malformation 1 10.2 FLT4 EPHB4
11 hereditary lymphedema ia 10.1 FLT4 EPHB4
12 elephantiasis 10.1 VEGFC FLT4
13 malignant ciliary body melanoma 10.1 PROX1 LYVE1
14 ciliary body cancer 10.1 PROX1 LYVE1
15 respiratory failure 10.1
16 lymphatic system disease 10.1
17 pik3ca-related overgrowth spectrum 10.1
18 erdheim-chester disease 10.1 PIK3CA NRAS
19 vulvar disease 10.1 PIK3CA NRAS
20 lymphatic malformation 5 10.1 FLT4 EPHB4
21 acneiform dermatitis 10.1 NRAS MTOR
22 hemimegalencephaly 10.1 PIK3CA MTOR
23 megalencephaly 10.1 PIK3CA MTOR
24 angiokeratoma of fordyce 10.1 PROX1 PECAM1
25 infiltrating angiolipoma 10.1 VEGFC EPHB4
26 epithelioid hemangioendothelioma 10.1 PECAM1 FLT4
27 rapidly involuting congenital hemangioma 10.1 PECAM1 FLT4
28 lymphocele 10.1 VEGFC MTOR
29 spindle cell hemangioma 10.1 PROX1 PECAM1
30 hobnail hemangioma 10.1 PECAM1 FLT4
31 childhood angiosarcoma 10.0 PECAM1 FLT4
32 micronodular basal cell carcinoma 10.0 PECAM1 NRAS
33 angiolipoma 10.0 PIK3CA PECAM1
34 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.0 PIK3CA MTOR
35 hydrocele 10.0 PECAM1 FLT4
36 ascites, chylous 10.0
37 glycogen storage disease ia 10.0
38 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.0
39 langerhans cell histiocytosis 10.0
40 bone disease 10.0
41 disseminated intravascular coagulation 10.0
42 arteriovenous malformation 10.0
43 constrictive pericarditis 10.0
44 bell's palsy 10.0
45 facial paralysis 10.0
46 pericarditis 10.0
47 interstitial lung disease 10.0
48 histiocytosis 10.0
49 bacterial meningitis 10.0
50 meningitis 10.0

Graphical network of the top 20 diseases related to Generalized Lymphatic Anomaly:



Diseases related to Generalized Lymphatic Anomaly

Symptoms & Phenotypes for Generalized Lymphatic Anomaly

GenomeRNAi Phenotypes related to Generalized Lymphatic Anomaly according to GeneCards Suite gene sharing:

25 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.93 MTOR PIK3CA
2 Decreased viability GR00055-A-2 9.93 MTOR PIK3CA
3 Decreased viability GR00221-A-1 9.93 EPHB4 MTOR NRAS PIK3CA
4 Decreased viability GR00221-A-2 9.93 EPHB4 PIK3CA
5 Decreased viability GR00221-A-3 9.93 NRAS
6 Decreased viability GR00221-A-4 9.93 EPHB4 MTOR PIK3CA
7 Decreased viability GR00301-A 9.93 EPHB4
8 Decreased viability GR00342-S-1 9.93 MTOR
9 Decreased viability GR00342-S-2 9.93 MTOR
10 Decreased viability GR00402-S-2 9.93 EPHB4 PIK3CA
11 Increased cell migration GR00055-A-1 8.62 VEGFC
12 Increased cell migration GR00055-A-3 8.62 VEGFC

MGI Mouse Phenotypes related to Generalized Lymphatic Anomaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.73 EPHB4 FLT4 MTOR PECAM1 PIK3CA PROX1
2 cardiovascular system MP:0005385 9.65 EPHB4 FLT4 LYVE1 MTOR NRAS PECAM1
3 adipose tissue MP:0005375 9.55 FLT4 MTOR PIK3CA PROX1 VEGFD
4 immune system MP:0005387 9.32 EPHB4 FLT4 LYVE1 MTOR NRAS PECAM1

Drugs & Therapeutics for Generalized Lymphatic Anomaly

Drugs for Generalized Lymphatic Anomaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Endothelial Growth Factors
2 Mitogens

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
2 Lymphatic Anomalies Registry for the Assessment of Outcome Data Recruiting NCT02399527

Search NIH Clinical Center for Generalized Lymphatic Anomaly

Genetic Tests for Generalized Lymphatic Anomaly

Anatomical Context for Generalized Lymphatic Anomaly

Organs/tissues related to Generalized Lymphatic Anomaly:

MalaCards : Endothelial, Bone, Skin

Publications for Generalized Lymphatic Anomaly

Articles related to Generalized Lymphatic Anomaly:

(show top 50) (show all 57)
# Title Authors PMID Year
1
[Complicated lymphatic anomaly: a clinicopathological analysis of four cases]. 62
36323545 2022
2
How we approach the diagnosis and management of complex lymphatic anomalies. 62
33844431 2022
3
Impact of High Fat Diet and Bolus Feeding on Chyle Accumulation in a Mouse Model of Generalized Lymphatic Anomaly. 62
34748416 2022
4
Kaposiform Lymphangiomatosis: Pathologic Aspects in 43 Patients. 62
35385405 2022
5
Lymphatic Anomalies in Children: Update on Imaging Diagnosis, Genetics, and Treatment. 62
35043669 2022
6
Radiographic, CT and MRI features of generalized lymphatic anomaly in a boy. 62
35578863 2022
7
Cellular variant of kaposiform lymphangiomatosis: a report of three cases, expanding the morphologic and molecular genetic spectrum of this rare entity. 62
35202617 2022
8
Sirolimus efficacy in the treatment of critically ill infants with congenital primary chylous effusions. 62
34889518 2022
9
Neonatal Generalized Lymphatic Anomaly with Skin Involvement. 62
34858011 2021
10
Peritoneovenous shunt as a palliative option in generalized lymphatic anomaly. 62
34407275 2021
11
A narrative review of the role of sirolimus in the treatment of congenital vascular malformations. 62
33737259 2021
12
Severe adverse events during sirolimus "off-label" therapy for vascular anomalies. 62
33580918 2021
13
Generalized lymphatic anomalies and review of the current management landscape: a case report and review of the literature. 62
34372919 2021
14
Sirolimus in the treatment of kaposiform lymphangiomatosis. 62
34103076 2021
15
CT and MRI Findings of Focal Splenic Lesions and Ascites in Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease. 62
34513208 2021
16
Intestinal Manifestations of Generalized Lymphatic Anomaly. 62
32830182 2020
17
Contrast-Enhanced Ultrasound: Use in the Management of Lymphorrhea in Generalized Lymphatic Anomaly. 62
32868021 2020
18
Unusual Intestinal Lesions of Generalized Lymphatic Anomaly. 62
32074576 2020
19
Lymphatics in bone arise from pre-existing lymphatics. 62
32188632 2020
20
Bone development and fracture healing is normal in mice that have a defect in the development of the lymphatic system. 62
33721923 2020
21
Potential biomarkers of kaposiform lymphangiomatosis. 62
31207041 2019
22
Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis. 62
31511039 2019
23
Generalized Lymphatic Anomaly and Gorham-Stout Disease: Overview and Recent Insights. 62
31236308 2019
24
Efficacy and safety of sirolimus treatment for intractable lymphatic anomalies: A study protocol for an open-label, single-arm, multicenter, prospective study (SILA). 62
30705924 2019
25
The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies. 62
31196128 2019
26
Efficacy of systemic sirolimus in the treatment of generalized lymphatic anomaly and Gorham-Stout disease. 62
30672136 2019
27
Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly. 62
30591517 2019
28
A Case of Suspected Adverse Reactions to Sirolimus in the Treatment of Generalized Lymphatic Anomaly. 62
31183237 2019
29
Generalized Lymphatic Anomaly Associated with Multiple Paraspinal Arteriovenous Malformations and Renal Artery Aneurysms. 62
30274859 2018
30
Abdominal lymphatic malformations. 62
29796772 2018
31
Evidence of Normal Alveolar Size in Pediatric Generalized Lymphatic Anomaly. 62
30134116 2018
32
Generalized lymphatic anomaly successfully treated with long-term, low-dose sirolimus. 62
29582448 2018
33
Generalized lymphatic anomaly presenting as rhinorrhea and chylous pericardial effusion. 62
29469185 2018
34
Chest imaging in generalized lymphatic anomaly and kaposiform lymphangiomatosis. 62
29923669 2018
35
Chylothorax and constrictive pericarditis in a woman due to generalized lymphatic anomaly: a case report. 62
29871646 2018
36
Somatic NRAS mutation in patient with generalized lymphatic anomaly. 62
29397482 2018
37
A Rare Cause of Secondary Immunodeficiency: Generalized Lymphatic Anomaly. 62
29432311 2018
38
Causes and manifestations of chylothorax in children in China: Experience from a children's medical center, 2007-2017. 62
32851223 2018
39
[Abdominal lymphatic malformations. German version]. 62
29242954 2018
40
MR imaging findings of vertebral involvement in Gorham-Stout disease, generalized lymphatic anomaly, and kaposiform lymphangiomatosis. 62
28795277 2017
41
Innovative Use of Denver Shunt in a Child with Generalized Lymphatic Anomaly. 62
28876997 2017
42
A case of generalized lymphatic anomaly causing skull-base leakage and bacterial meningitis. 62
28094160 2017
43
Angiopoietins as serum biomarkers for lymphatic anomalies. 62
27990590 2017
44
Imaging features of kaposiform lymphangiomatosis. 62
27053281 2016
45
Craniofacial CT findings of Gorham-Stout disease and generalized lymphatic anomaly. 62
27126342 2016
46
A New Case and Review of Chylothorax in Generalized Lymphatic Anomaly and Gorham-Stout Disease. 62
29906363 2016
47
Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate. 62
27194137 2016
48
Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease. 62
26806875 2016
49
Imatinib Treatment of Lymphangiomatosis (Generalized Lymphatic Anomaly). 62
27059187 2016
50
Personalized Therapy for Generalized Lymphatic Anomaly/Gorham-Stout Disease With a Combination of Sunitinib and Taxol. 62
26458155 2015

Variations for Generalized Lymphatic Anomaly

Expression for Generalized Lymphatic Anomaly

Search GEO for disease gene expression data for Generalized Lymphatic Anomaly.

Pathways for Generalized Lymphatic Anomaly

Pathways related to Generalized Lymphatic Anomaly according to GeneCards Suite gene sharing:

(show all 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 EPHB4 FLT4 MTOR NRAS VEGFC VEGFD
2 13.59 VEGFD VEGFC PIK3CA NRAS MTOR FLT4
3
Show member pathways
13.35 VEGFD VEGFC NRAS MTOR FLT4 EPHB4
4
Show member pathways
13.31 VEGFD VEGFC PIK3CA NRAS MTOR FLT4
5
Show member pathways
13.2 VEGFD VEGFC NRAS MTOR FLT4 EPHB4
6
Show member pathways
13.14 EPHB4 FLT4 NRAS VEGFC VEGFD
7
Show member pathways
13.1 VEGFD VEGFC PIK3CA PECAM1 NRAS
8
Show member pathways
13.09 VEGFD VEGFC NRAS FLT4 EPHB4
9
Show member pathways
12.89 VEGFD VEGFC NRAS MTOR FLT4
10
Show member pathways
12.84 VEGFD VEGFC NRAS MTOR FLT4 EPHB4
11
Show member pathways
12.72 VEGFD VEGFC PIK3CA NRAS MTOR FLT4
12 12.5 VEGFD VEGFC PIK3CA MTOR FLT4
13 12.45 FLT4 MTOR NRAS PIK3CA VEGFC VEGFD
14
Show member pathways
12.35 PIK3CA NRAS MTOR
15
Show member pathways
12.3 VEGFD VEGFC PIK3CA NRAS MTOR FLT4
16
Show member pathways
12.28 PIK3CA NRAS MTOR FLT4
17
Show member pathways
12.26 VEGFD VEGFC FLT4
18
Show member pathways
12.25 FLT4 MTOR NRAS PIK3CA
19
Show member pathways
12.25 FLT4 NRAS PIK3CA VEGFC VEGFD
20
Show member pathways
12.18 PIK3CA NRAS MTOR
21 12.14 VEGFD VEGFC PIK3CA
22 12.1 PIK3CA NRAS FLT4
23
Show member pathways
12.06 PIK3CA PECAM1 NRAS
24
Show member pathways
12.04 PIK3CA NRAS MTOR FLT4
25 11.97 EPHB4 FLT4 VEGFC
26
Show member pathways
11.94 PIK3CA NRAS MTOR
27
Show member pathways
11.79 VEGFD VEGFC PIK3CA NRAS MTOR FLT4
28 11.76 VEGFC NRAS MTOR
29
Show member pathways
11.67 MTOR NRAS PIK3CA
30
Show member pathways
11.66 FLT4 NRAS PIK3CA
31 11.62 VEGFC PROX1 PECAM1 FLT4
32 11.61 PIK3CA NRAS MTOR
33
Show member pathways
11.42 VEGFD VEGFC PIK3CA NRAS MTOR FLT4
34 11.34 NRAS FLT4
35 11.28 PIK3CA NRAS
36 11.28 NRAS MTOR
37 11.23 FLT4 EPHB4
38 11.2 PIK3CA MTOR
39 11.18 PIK3CA MTOR
40 11.16 PIK3CA NRAS MTOR
41 11.13 PIK3CA MTOR
42 11.11 VEGFD VEGFC
43 11.07 VEGFD VEGFC
44 11.02 PIK3CA MTOR
45 11 PIK3CA MTOR
46 10.89 PIK3CA EPHB4
47 10.85 VEGFD VEGFC FLT4 EPHB4
48 10.84 VEGFD VEGFC PIK3CA FLT4
49
Show member pathways
10.78 VEGFD VEGFC FLT4
50 10.69 PIK3CA MTOR

GO Terms for Generalized Lymphatic Anomaly

Biological processes related to Generalized Lymphatic Anomaly according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.01 PIK3CA MTOR FLT4 EPHB4
2 angiogenesis GO:0001525 9.86 VEGFD VEGFC PIK3CA FLT4 EPHB4
3 sprouting angiogenesis GO:0002040 9.85 VEGFD VEGFC FLT4
4 vasculature development GO:0001944 9.83 PIK3CA FLT4
5 negative regulation of macroautophagy GO:0016242 9.81 PIK3CA MTOR
6 positive regulation of protein phosphorylation GO:0001934 9.81 VEGFD VEGFC PECAM1 MTOR FLT4
7 induction of positive chemotaxis GO:0050930 9.8 VEGFD VEGFC
8 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.8 FLT4 VEGFC VEGFD
9 lymphangiogenesis GO:0001946 9.78 FLT4 PROX1
10 anoikis GO:0043276 9.76 MTOR PIK3CA
11 positive regulation of mast cell chemotaxis GO:0060754 9.71 VEGFD VEGFC
12 positive regulation of endothelial cell proliferation GO:0001938 9.65 VEGFD VEGFC PROX1 NRAS FLT4
13 lymph vessel development GO:0001945 9.61 PROX1 FLT4
14 vascular endothelial growth factor signaling pathway GO:0038084 9.23 VEGFD VEGFC PIK3CA FLT4

Molecular functions related to Generalized Lymphatic Anomaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.63 PIK3CA MTOR FLT4 EPHB4
2 vascular endothelial growth factor receptor binding GO:0005172 9.26 VEGFD VEGFC
3 vascular endothelial growth factor receptor 3 binding GO:0043185 8.92 VEGFD VEGFC

Sources for Generalized Lymphatic Anomaly

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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