MCID: LYM095
MIFTS: 31

Lymphangiomatosis

Categories: Immune diseases, Rare diseases

Aliases & Classifications for Lymphangiomatosis

MalaCards integrated aliases for Lymphangiomatosis:

Name: Lymphangiomatosis 20 36 70

Classifications:



External Ids:

KEGG 36 H01735
UMLS 70 C0334102

Summaries for Lymphangiomatosis

KEGG : 36 Lymphangiomatosis is a well-recognized congenital benign tumour, frequently seen in infancy and childhood, characterized by the presence of multiple lymphangiomas. The lymphangiomatosis spectrum encompasses a remarkable heterogeneity in its potential presentation, including micro- and macrocystic isolated lymphatic malformations, thoracic and intraabdominal diffuse lymphangiomatosis, and osseous and soft-tissue presentations known as Gorham disease. The disease can be considered a failure of normal lymphatic development, but the etiology remains poorly understood. Treatment has been limited to surgical resection or drainage procedures because there is no accepted effective systemic therapy.

MalaCards based summary : Lymphangiomatosis is related to lymphangioleiomyomatosis and hemangioma. An important gene associated with Lymphangiomatosis is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Endometrial cancer and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include kidney, spleen and bone, and related phenotypes are Reduced mammosphere formation and mortality/aging

Wikipedia : 73 Lymphangiomatosis is a condition where a lymphangioma is not present in a single localised mass, but in... more...

Related Diseases for Lymphangiomatosis

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

(show top 50) (show all 203)
# Related Disease Score Top Affiliating Genes
1 lymphangioleiomyomatosis 29.9 TSC2 PGR DES
2 hemangioma 29.5 VIM TSC2 PGR
3 pneumothorax 29.3 VIM PGR
4 angiomyolipoma 29.0 VIM TSC2 PGR DES
5 kaposiform lymphangiomatosis 11.4
6 lymphangiectasia, pulmonary, congenital 11.2
7 diffuse lymphatic malformation 11.1
8 lymphangioma 10.6
9 rare lymphatic malformation 10.6
10 splenomegaly 10.3
11 cystic lymphangioma 10.2
12 gorham's disease 10.2
13 hemangioendothelioma 10.2
14 kaposiform hemangioendothelioma 10.2
15 ascites, chylous 10.1
16 hereditary lymphedema i 10.1
17 protein-losing enteropathy 10.1
18 respiratory failure 10.1
19 disseminated intravascular coagulation 10.1
20 thrombocytopenia 10.1
21 lymphangiectasis 10.1
22 angiomatosis 10.1
23 cystic angiomatosis of bone, diffuse 10.1
24 hemopericardium 10.1
25 pericardial effusion 10.1
26 infantile digital fibromatosis 10.1 VIM DES
27 fibroma 10.1 VIM DES
28 fibromatosis 10.1 VIM DES
29 acral lentiginous melanoma 10.1 VIM NRAS
30 primitive neuroectodermal tumor of the cervix uteri 10.1 VIM DES
31 subependymal giant cell astrocytoma 10.1 VIM TSC2
32 cutaneous leiomyosarcoma 10.1 VIM DES
33 bone disease 10.1
34 interstitial lung disease 10.1
35 lung disease 10.1
36 hygroma cervical 10.1
37 parachordoma 10.1 VIM DES
38 chordoma 10.0 VIM DES
39 glomangioma 10.0 VIM DES
40 spindle cell lipoma 10.0 VIM DES
41 reticulum cell sarcoma 10.0 VIM DES
42 embryonal sarcoma 10.0 VIM DES
43 ossifying fibromyxoid tumor 10.0 VIM DES
44 chondromyxoid fibroma 10.0 VIM DES
45 syringoma 10.0 VIM DES
46 medulloepithelioma 10.0 VIM DES
47 congenital fibrosarcoma 10.0 VIM DES
48 pleomorphic liposarcoma 10.0 VIM DES
49 sarcomatoid mesothelioma 10.0 VIM DES
50 pseudosarcomatous fibromatosis 10.0 VIM DES

Graphical network of the top 20 diseases related to Lymphangiomatosis:



Diseases related to Lymphangiomatosis

Symptoms & Phenotypes for Lymphangiomatosis

GenomeRNAi Phenotypes related to Lymphangiomatosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.92 DES NRAS PCNA VIM

MGI Mouse Phenotypes related to Lymphangiomatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 DES NRAS PCNA PGR TSC2 VIM

Drugs & Therapeutics for Lymphangiomatosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders Recruiting NCT02156115

Search NIH Clinical Center for Lymphangiomatosis

Genetic Tests for Lymphangiomatosis

Anatomical Context for Lymphangiomatosis

MalaCards organs/tissues related to Lymphangiomatosis:

40
Kidney, Spleen, Bone, Liver, Colon, Heart, Lung

Publications for Lymphangiomatosis

Articles related to Lymphangiomatosis:

(show top 50) (show all 537)
# Title Authors PMID Year
1
Squamous cell carcinoma of the vulva together with vulvar lymphangiomatosis: vulvectomy and reconstruction (DIEP). 61
33811544 2021
2
Idiopathic bilateral massive perirenal subcapsular effusion: The first case in the literature. 61
33730943 2021
3
Kaposiform Hemangioendothelioma: clinicopathological characteristics of 8 cases of a rare vascular tumor and review of literature. 61
33722245 2021
4
Isolated abdominal kaposiform lymphangiomatosis: a novel presentation of a rare entity. 61
33036770 2021
5
[Lymphangiomatosis: Rare Cause of Pleural Effusion]. 61
32707589 2021
6
A rare cause of intra-abdominal cysts: pancreatic cystic lymphangiomas. 61
33393336 2021
7
Generalized lymphangiomatosis-A rare manifestation of lymphatic malformation. 61
33193931 2021
8
A Systematic Review of Lymphangioleiomyomatosis on Diagnosis and Molecular Mechanism. 61
33628792 2021
9
Renal Lymphangiomatosis Mimicking Polycystic Kidney Disease In An Adult, A Case Report and Literature Review. 61
33492306 2021
10
Systemic generalised lymphangiomatosis: unknown aetiology and a challenge to treat. 61
33462010 2021
11
Cystic Hygroma with Multiple Benign bone Lymphangiomas in an Adult Patient: a rare Entity in the Differential Diagnosis of Multiple Osseous Lesions in Oncology Practice. 61
33327921 2020
12
A Case of Lymphangiomatosis With Infected Lymphangiomas Effectively Treated by Thoracoscopic Debridement and Drainage. 61
33160540 2020
13
Rare cystic lymphangioma in the chest wall of an adult patient: A case report and comprehensive review of the literature. 61
32986288 2020
14
A case report of generalized lymphangiomatosis with chylopericardium: the crucial role of magnetic resonance lymphangiography. 61
33204977 2020
15
Kaposiform lymphangiomatosis effectively treated with MEK inhibition. 61
32894644 2020
16
Chylovenous bypass for mesenteric lymphangiomatosis: A case report. 61
32668017 2020
17
Kaposiform lymphangiomatosis with spinal involvement. 61
31790122 2020
18
Thoracic duct embolization in kaposiform lymphangiomatosis. 61
32653407 2020
19
Kaposiform lymphangiomatosis treated with multimodal therapy improves coagulopathy and reduces blood angiopoietin-2 levels. 61
32634277 2020
20
A gene missense mutation in diffuse pulmonary lymphangiomatosis with thrombocytopenia: A case report. 61
32991402 2020
21
Late diagnosis of generalized lymphangiomatosis in a woman presenting with respiratory distress. 61
32550956 2020
22
Lymphangiomatosis of the Colon. 61
32827725 2020
23
Analysis of mTOR pathway expression in lymphatic malformation and related diseases. 61
32067331 2020
24
Refractory chylothorax and chylous ascites as form of presentation of diffuse lymphangiomatosis. 61
32446681 2020
25
Transthoracic ultrasound: an essential diagnostic tool in a very rare case of thoracic lymphangiomatosis. 61
32905574 2020
26
Comment on: Potential biomarkers of kaposiform lymphangiomatosis. 61
31872523 2020
27
Reply to: Comment on: Potential biomarkers of kaposiform lymphangiomatosis. 61
31930675 2020
28
Unusual case of chylothorax with unilateral limb swelling. 61
32047079 2020
29
Diagnosis of Lymphangiomatosis: A Study Based on CT Lymphangiography. 61
31076330 2020
30
Gastrointestinal: Diffuse esophageal lymphangiomatosis manifesting as multiple submucosal masses. 61
31257637 2020
31
Successful treatment of diffuse pulmonary lymphangiomatosis with sirolimus. 61
32071853 2020
32
A rare case of retroperitoneal and mesenteric lymphangiomatosis. 61
31762861 2020
33
A case of diffuse pulmonary lymphangiomatosis with a venous anomaly presenting with acute respiratory failure and hemoptysis. 61
33088708 2020
34
Intra-abdominal chylovenous bypass treats retroperitoneal lymphangiomatosis. 61
31273800 2020
35
Bone development and fracture healing is normal in mice that have a defect in the development of the lymphatic system. 61
33721923 2020
36
Generalized cystic lymphangiomatosis incidentally recognized in an asymptomatic adult: Peroperative, CT, MRI, and histopathological findings of a very rare case. 61
31793488 2019
37
[Clinical characteristics of Kaposiform lymphangiomatosis: a report of 8 cases]. 61
31826597 2019
38
Severe Pulmonary Lymphedema in a Patient with Diffuse Pulmonary Lymphangiomatosis. 61
31162933 2019
39
Diffuse pulmonary lymphangiomatosis: A rare case report in an adult. 61
31651839 2019
40
Diffuse pulmonary lymphangiomatosis. 61
31531617 2019
41
Surgical Management of Gorham-Stout Disease in Cervical Compression Fracture with Cervicothoracic Fusion: Case Report and Review of Literature. 61
31158540 2019
42
Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis. 61
31511039 2019
43
Potential biomarkers of kaposiform lymphangiomatosis. 61
31207041 2019
44
Signaling pathways and inhibitors of cells from patients with kaposiform lymphangiomatosis. 61
31045327 2019
45
Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences. 61
31277673 2019
46
A somatic activating NRAS variant associated with kaposiform lymphangiomatosis. 61
30542204 2019
47
The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies. 61
31196128 2019
48
Generalized Lymphatic Anomaly and Gorham-Stout Disease: Overview and Recent Insights. 61
31236308 2019
49
The First Clinical Case of Gorham-Stout Syndrome of Humerus in an 18-year-old Female Reported in Pakistan. 61
31403018 2019
50
Lymphangiomatosis of the ileum with perforation: A case report and review of the literature. 61
30992989 2019

Variations for Lymphangiomatosis

Expression for Lymphangiomatosis

Search GEO for disease gene expression data for Lymphangiomatosis.

Pathways for Lymphangiomatosis

Pathways related to Lymphangiomatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.24 TSC2 PCNA NRAS
2 11.19 VIM PCNA
3 11.11 VIM DES
4
Show member pathways
10.81 VIM DES
5 10.47 TSC2 NRAS
6 10.1 TSC2 NRAS

GO Terms for Lymphangiomatosis

Cellular components related to Lymphangiomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament cytoskeleton GO:0045111 8.62 VIM DES

Biological processes related to Lymphangiomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.33 VIM TSC2 PCNA
2 muscle filament sliding GO:0030049 8.96 VIM DES
3 intermediate filament organization GO:0045109 8.62 VIM DES

Molecular functions related to Lymphangiomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.92 VIM PGR PCNA DES

Sources for Lymphangiomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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