Kaposiform Lymphangiomatosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: KPS005 MIFTS: 25	Kaposiform Lymphangiomatosis Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Immune diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Kaposiform Lymphangiomatosis

MalaCards integrated aliases for Kaposiform Lymphangiomatosis:

Name: Kaposiform Lymphangiomatosis ²⁰ ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Respiratory diseases Immune diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Neoplasms

Benign neoplasms

Haemangioma and lymphangioma, any site

Lymphangioma, any site

Orphanet: ⁵⁸

Rare circulatory system diseases

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³³ D18.1

Orphanet ⁵⁸ ORPHA464329

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Summaries for Kaposiform Lymphangiomatosis

GARD : ²⁰ 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 thrombocytopenia. An important gene associated with Kaposiform Lymphangiomatosis is NRAS (NRAS Proto-Oncogene, GTPase). Affiliated tissues include heart, bone and kidney, and related phenotypes are pleural effusion and abnormality of the mediastinum

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Related Diseases for Kaposiform Lymphangiomatosis

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

#	Related Disease	Score
1	lymphangiomatosis	10.8
2	thrombocytopenia	10.4
3	cystic angiomatosis of bone, diffuse	10.2
4	lymphangioma	10.2
5	hemangioendothelioma	10.2
6	kaposiform hemangioendothelioma	10.2
7	intracranial hypertension, idiopathic	10.1
8	lymphangioleiomyomatosis	10.1
9	vascular disease	10.1

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

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Symptoms & Phenotypes for Kaposiform Lymphangiomatosis

Human phenotypes related to Kaposiform Lymphangiomatosis:

⁵⁸ ³¹ (show all 48)

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

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Drugs & Therapeutics for Kaposiform Lymphangiomatosis

Search Clinical Trials , NIH Clinical Center for Kaposiform Lymphangiomatosis

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Genetic Tests for Kaposiform Lymphangiomatosis

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Anatomical Context for Kaposiform Lymphangiomatosis

MalaCards organs/tissues related to Kaposiform Lymphangiomatosis:

⁴⁰

Heart, Bone, Kidney, Spleen, Lung

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Publications for Kaposiform Lymphangiomatosis

Articles related to Kaposiform Lymphangiomatosis:

(show all 33)

#	Title	Authors	PMID	Year
1	A somatic activating NRAS variant associated with kaposiform lymphangiomatosis. ²⁰ ⁶¹	Barclay SF...Kurek KC	30542204	2019
2	Imaging features of kaposiform lymphangiomatosis. ²⁰ ⁶¹	Goyal P...Chaudry G	27053281	2016
3	Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease. ⁶¹ ²⁰	Ozeki M...Fukao T	26806875	2016
4	Kaposiform lymphangiomatosis, a newly characterized vascular anomaly presenting with hemoptysis in an adult woman. ²⁰ ⁶¹	Safi F...Assaly R	24460439	2014
5	Vascular Anomalies: Diagnosis of Complicated Anomalies and New Medical Treatment Options. ²⁰	Adams DM...Ricci KW	31030813	2019
6	Isolated abdominal kaposiform lymphangiomatosis: a novel presentation of a rare entity. ⁶¹	Chen G...Pang T	33036770	2021
7	Kaposiform lymphangiomatosis effectively treated with MEK inhibition. ⁶¹	Foster JB...Dori Y	32894644	2020
8	Kaposiform lymphangiomatosis with spinal involvement. ⁶¹	Liu SZ...Liu Y	31790122	2020
9	Kaposiform lymphangiomatosis treated with multimodal therapy improves coagulopathy and reduces blood angiopoietin-2 levels. ⁶¹	Crane J...Le Cras TD	32634277	2020
10	Thoracic duct embolization in kaposiform lymphangiomatosis. ⁶¹	Bundy JJ...Downing T	32653407	2020
11	Analysis of mTOR pathway expression in lymphatic malformation and related diseases. ⁶¹	Hori Y...Morii E	32067331	2020
12	Comment on: Potential biomarkers of kaposiform lymphangiomatosis. ⁶¹	Le Cras TD...Adams DM	31872523	2020
13	Reply to: Comment on: Potential biomarkers of kaposiform lymphangiomatosis. ⁶¹	Ozeki M...Fukao T	31930675	2020
14	[Clinical characteristics of Kaposiform lymphangiomatosis: a report of 8 cases]. ⁶¹	Qiu T...Ji Y	31826597	2019
15	Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis. ⁶¹	Ozeki M...Fukao T	31511039	2019
16	Potential biomarkers of kaposiform lymphangiomatosis. ⁶¹	Ozeki M...Fukao T	31207041	2019
17	Signaling pathways and inhibitors of cells from patients with kaposiform lymphangiomatosis. ⁶¹	Boscolo E...Le Cras TD	31045327	2019
18	Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences. ⁶¹	Ji Y...Li L	31277673	2019
19	The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies. ⁶¹	Ozeki M...Fukao T	31196128	2019
20	Generalized Lymphatic Anomaly and Gorham-Stout Disease: Overview and Recent Insights. ⁶¹	Ozeki M...Fukao T	31236308	2019
21	[Our experience with sirolimus for the treatment of complicated vascular anomalies]. ⁶¹	Gimenez-Aleixandre C...Hernandez-Bermejo JP	30714698	2019
22	Proliferative Cells From Kaposiform Lymphangiomatosis Lesions Resemble Mesenchyme Stem Cell-like Pericytes Defective in Vessel Formation. ⁶¹	Glaser K...Dickie BH	30256265	2018
23	Pseudotumor cerebri in kaposiform lymphangiomatosis: a case report and pathogenetic hypothesis. ⁶¹	Barcelo-Lopez C...Martinez-Lage JF	29654359	2018
24	Chest imaging in generalized lymphatic anomaly and kaposiform lymphangiomatosis. ⁶¹	Kato H...Matsuo M	29923669	2018
25	MR imaging findings of vertebral involvement in Gorham-Stout disease, generalized lymphatic anomaly, and kaposiform lymphangiomatosis. ⁶¹	Kato H...Matsuo M	28795277	2017
26	Kaposiform Lymphangiomatosis with Human Papillomavirus Infection. ⁶¹	Radzikowska E...Wiatr E	28398067	2017
27	Sirolimus in the Treatment of Vascular Anomalies. ⁶¹	Triana P...Lopez-Gutierrez JC	27723921	2017
28	Angiopoietins as serum biomarkers for lymphatic anomalies. ⁶¹	Le Cras TD...Adams DM	27990590	2017
29	Point-of-Care Thoracic Ultrasonography in the Diagnosis and Management of Kaposiform Lymphangiomatosis. ⁶¹	Raam MS...Elkhunovich MA	27898632	2016
30	Successful treatment of kaposiform lymphangiomatosis with sirolimus. ⁶¹	Wang Z...Zheng S	25598153	2015
31	Kaposiform lymphangiomatosis: unifying features of a heterogeneous disorder. ⁶¹	Fernandes VM...Meier ER	25307772	2015
32	Complex lymphatic anomalies. ⁶¹	Trenor CC...Chaudry G	25241096	2014
33	Kaposiform lymphangiomatosis: a distinct aggressive lymphatic anomaly. ⁶¹	Croteau SE...Trenor CC	24252784	2014

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Genes for Kaposiform Lymphangiomatosis

Genes related to Kaposiform Lymphangiomatosis (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	7.46	GeneCards inferred via : Publications (show sections)

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Variations for Kaposiform Lymphangiomatosis

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Expression for Kaposiform Lymphangiomatosis

Search GEO for disease gene expression data for Kaposiform Lymphangiomatosis.

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Pathways for Kaposiform Lymphangiomatosis

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GO Terms for Kaposiform Lymphangiomatosis

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