MCID: KPS005
MIFTS: 27

Kaposiform Lymphangiomatosis

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Immune diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Kaposiform Lymphangiomatosis

Summaries for Kaposiform Lymphangiomatosis

NIH Rare Diseases : 52 Kaposiform lymphangiomatosis (KLA) is a rare type of tumor and vascular malformation that results from the abnormal development of the lymphatic system . The lymphatic system is part of the immune system made up of vessels that help to protect the body from infection and foreign substances. KLA involves multiple parts of the body, especially the lungs and chest. Symptoms of KLA usually start during childhood, and include shortness of breath (dyspnea) and cough due to the accumulation of fluid around the lungs (pleural effusion ) and heart (pericardial effusion ). Other common symptoms include chest and body pain, abnormal bleeding and bruising, and soft masses under the skin. Blood collections may form under the skull (epidural hematoma ). The cause for KLA is unknown and it is not thought to be inherited in families. KLA is diagnosed based on the symptoms, laboratory testing, and a biopsy of tumor tissue . There is no specific treatment for KLA. Treatment is based on the symptoms and treatment options may include surgical procedures to drain excess fluid and reduce the size of masses, chemotherapy medications and steroids. KLA tends to be a progressive condition that gets worse with time. The most serious complications include the build-up of fluid around the lungs and heart, and the risk for abnormal bleeding.

MalaCards based summary : Kaposiform Lymphangiomatosis is related to lymphangiomatosis and cystic angiomatosis of bone, diffuse. An important gene associated with Kaposiform Lymphangiomatosis is NRAS (NRAS Proto-Oncogene, GTPase). The drugs Anesthetics and Endothelial Growth Factors have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and skin, and related phenotypes are abnormality of the mediastinum and pleural effusion

Related Diseases for Kaposiform Lymphangiomatosis

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

# Related Disease Score Top Affiliating Genes
1 lymphangiomatosis 10.9
2 cystic angiomatosis of bone, diffuse 10.3
3 thrombocytopenia 10.3
4 hemangioendothelioma 10.3
5 kaposiform hemangioendothelioma 10.3
6 intracranial hypertension, idiopathic 10.2
7 lymphangioleiomyomatosis 10.2
8 lymphangioma 10.2
9 vascular disease 10.2

Graphical network of the top 20 diseases related to Kaposiform Lymphangiomatosis:



Diseases related to Kaposiform Lymphangiomatosis

Symptoms & Phenotypes for Kaposiform Lymphangiomatosis

Human phenotypes related to Kaposiform Lymphangiomatosis:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the mediastinum 58 31 hallmark (90%) Very frequent (99-80%) HP:0045026
2 pleural effusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0002202
3 abnormal lymphatic vessel morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0100766
4 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
5 osteolysis 58 31 frequent (33%) Frequent (79-30%) HP:0002797
6 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
7 pericardial effusion 58 31 frequent (33%) Frequent (79-30%) HP:0001698
8 hypofibrinogenemia 58 31 frequent (33%) Frequent (79-30%) HP:0011900
9 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
10 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
11 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
12 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
13 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
14 abnormality of femur morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002823
15 pancreatic cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0001737
16 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
17 epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000421
18 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
19 abnormality of the neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000464
20 abnormal sacrum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005107
21 epidural hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0100310
22 exercise intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003546
23 lymphangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100764
24 metrorrhagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100608
25 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
26 abnormality of the cervical spine 58 31 occasional (7.5%) Occasional (29-5%) HP:0003319
27 subconjunctival hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0011896
28 abnormality of the scapula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000782
29 abnormality of the ischium 58 31 occasional (7.5%) Occasional (29-5%) HP:0003174
30 abnormal pelvis bone morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0040163
31 ecchymosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0031364
32 fractures of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0003084
33 abnormality of the thoracic spine 58 31 occasional (7.5%) Occasional (29-5%) HP:0100711
34 abnormal humerus morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0031095
35 anemia 58 31 very rare (1%) Very rare (<4-1%) HP:0001903
36 hemoptysis 58 31 very rare (1%) Very rare (<4-1%) HP:0002105
37 abnormality of the skull base 58 31 very rare (1%) Very rare (<4-1%) HP:0002693
38 papilloma 58 31 very rare (1%) Very rare (<4-1%) HP:0012740
39 enlarged kidney 58 31 very rare (1%) Very rare (<4-1%) HP:0000105
40 abnormal bleeding 58 Frequent (79-30%)
41 abnormality of the thorax 58 Frequent (79-30%)
42 abnormality of the lymphatic system 58 Very frequent (99-80%)
43 abnormal lung morphology 58 Very frequent (99-80%)
44 abnormality of the respiratory system 58 Frequent (79-30%)
45 abnormality of skeletal morphology 58 Frequent (79-30%)
46 abnormal spleen morphology 58 Frequent (79-30%)

Drugs & Therapeutics for Kaposiform Lymphangiomatosis

Drugs for Kaposiform Lymphangiomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dynamic Contrast Enhanced MR Lymphangiogram Imaging of Lymphatic Anomalies (LA) Completed NCT02744027
2 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180

Search NIH Clinical Center for Kaposiform Lymphangiomatosis

Genetic Tests for Kaposiform Lymphangiomatosis

Anatomical Context for Kaposiform Lymphangiomatosis

MalaCards organs/tissues related to Kaposiform Lymphangiomatosis:

40
Lung, Heart, Skin, Testes, Bone, Spleen, Kidney

Publications for Kaposiform Lymphangiomatosis

Articles related to Kaposiform Lymphangiomatosis:

(show all 28)
# Title Authors PMID Year
1
A somatic activating NRAS variant associated with kaposiform lymphangiomatosis. 61 52
30542204 2019
2
Imaging features of kaposiform lymphangiomatosis. 61 52
27053281 2016
3
Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease. 61 52
26806875 2016
4
Kaposiform lymphangiomatosis, a newly characterized vascular anomaly presenting with hemoptysis in an adult woman. 61 52
24460439 2014
5
Vascular Anomalies: Diagnosis of Complicated Anomalies and New Medical Treatment Options. 52
31030813 2019
6
Reply to: Comment on: Potential biomarkers of kaposiform lymphangiomatosis. 61
31930675 2020
7
[Clinical characteristics of Kaposiform lymphangiomatosis: a report of 8 cases]. 61
31826597 2019
8
Kaposiform lymphangiomatosis with spinal involvement. 61
31790122 2019
9
Comment on: Potential biomarkers of kaposiform lymphangiomatosis. 61
31872523 2019
10
Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis. 61
31511039 2019
11
Potential biomarkers of kaposiform lymphangiomatosis. 61
31207041 2019
12
Signaling pathways and inhibitors of cells from patients with kaposiform lymphangiomatosis. 61
31045327 2019
13
Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences. 61
31277673 2019
14
Generalized Lymphatic Anomaly and Gorham-Stout Disease: Overview and Recent Insights. 61
31236308 2019
15
The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies. 61
31196128 2019
16
[Our experience with sirolimus for the treatment of complicated vascular anomalies]. 61
30714698 2019
17
Proliferative Cells From Kaposiform Lymphangiomatosis Lesions Resemble Mesenchyme Stem Cell-like Pericytes Defective in Vessel Formation. 61
30256265 2018
18
Pseudotumor cerebri in kaposiform lymphangiomatosis: a case report and pathogenetic hypothesis. 61
29654359 2018
19
Chest imaging in generalized lymphatic anomaly and kaposiform lymphangiomatosis. 61
29923669 2018
20
MR imaging findings of vertebral involvement in Gorham-Stout disease, generalized lymphatic anomaly, and kaposiform lymphangiomatosis. 61
28795277 2017
21
Kaposiform Lymphangiomatosis with Human Papillomavirus Infection. 61
28398067 2017
22
Sirolimus in the Treatment of Vascular Anomalies. 61
27723921 2017
23
Angiopoietins as serum biomarkers for lymphatic anomalies. 61
27990590 2017
24
Point-of-Care Thoracic Ultrasonography in the Diagnosis and Management of Kaposiform Lymphangiomatosis. 61
27898632 2016
25
Successful treatment of kaposiform lymphangiomatosis with sirolimus. 61
25598153 2015
26
Kaposiform lymphangiomatosis: unifying features of a heterogeneous disorder. 61
25307772 2015
27
Complex lymphatic anomalies. 61
25241096 2014
28
Kaposiform lymphangiomatosis: a distinct aggressive lymphatic anomaly. 61
24252784 2014

Variations for Kaposiform Lymphangiomatosis

Expression for Kaposiform Lymphangiomatosis

Search GEO for disease gene expression data for Kaposiform Lymphangiomatosis.

Pathways for Kaposiform Lymphangiomatosis

GO Terms for Kaposiform Lymphangiomatosis

Sources for Kaposiform Lymphangiomatosis

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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