MCID: KPS002
MIFTS: 46

Kaposiform Hemangioendothelioma

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Kaposiform Hemangioendothelioma

MalaCards integrated aliases for Kaposiform Hemangioendothelioma:

Name: Kaposiform Hemangioendothelioma 49 55 69
Congenital Cutaneous Multifocal Kaposiform Hemangioendothelioma 49
Kaposiform Hemangio-Endothelioma 49
Khe 49
Kh 49

Characteristics:

Orphanet epidemiological data:

55
kaposiform hemangioendothelioma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 55 ORPHA2122
MESH via Orphanet 42 C537007
UMLS via Orphanet 70 C1367420
ICD10 via Orphanet 33 D18.0
UMLS 69 C1367420

Summaries for Kaposiform Hemangioendothelioma

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2122Disease definitionKaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.Visit the Orphanet disease page for more resources. Last updated: 10/1/2016

MalaCards based summary : Kaposiform Hemangioendothelioma, also known as congenital cutaneous multifocal kaposiform hemangioendothelioma, is related to hemangioendothelioma and lymphatic malformations. An important gene associated with Kaposiform Hemangioendothelioma is GNA14 (G Protein Subunit Alpha 14), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. The drugs Vincristine and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include endothelial, skin and spleen, and related phenotypes are cardiovascular system and cellular

Related Diseases for Kaposiform Hemangioendothelioma

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

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 hemangioendothelioma 31.1 FLI1 FLT4 KDR PECAM1
2 lymphatic malformations 30.4 FLT4 PROX1
3 lymphedema 30.2 FLT4 KDR PROX1
4 lymphangioma 30.0 FLT4 KDR PROX1
5 hemangioma 29.0 CD34 FLT4 KDR PECAM1 PROX1
6 hemangioma-thrombocytopenia syndrome 11.6
7 angioma, tufted 11.6
8 gorham's disease 10.3 FLT4 PROX1
9 skin hemangioma 10.3 KDR PROX1
10 multiple mitochondrial dysfunctions syndrome 5 10.2
11 lymphangiomatosis 10.2
12 hemangioma, capillary infantile 10.2 FLT4 KDR
13 pulmonary vein stenosis 10.2 KDR PECAM1
14 hennekam syndrome 10.2 FLT4 PROX1
15 radiation proctitis 10.2 KDR PECAM1
16 pancreatitis 10.2
17 mediastinitis 10.2
18 epithelioid hemangioendothelioma 10.2 KDR PECAM1
19 cavernous hemangioma 10.1 KDR PECAM1
20 hydrocele 10.1 FLT4 PECAM1
21 endotheliitis 10.1
22 proctitis 10.1 KDR PECAM1
23 fragile x syndrome 10.0
24 ewing's family of tumors 10.0 FLI1 MTOR
25 breast carcinoma in situ 10.0 FLT4 KDR
26 capillary hemangioma 9.9 FLT4 KDR PECAM1
27 pericardial effusion 9.9
28 hydrops fetalis 9.9
29 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
30 cervicitis 9.9
31 laryngitis 9.9
32 soft tissue sarcoma 9.9
33 arthritis 9.9
34 duodenal obstruction 9.9
35 aplasia cutis congenita, nonsyndromic 9.9
36 intestinal obstruction 9.9
37 intussusception 9.9
38 duodenitis 9.9
39 laryngomalacia 9.9
40 hereditary lymphedema 9.9
41 rheumatoid arthritis 9.9
42 scoliosis 9.9
43 hemophilia 9.9
44 ascites, chylous 9.9
45 tonsillitis 9.9
46 aplasia cutis congenita 9.9
47 sarcoma 9.9
48 hemopericardium 9.9
49 hobnail hemangioma 9.9 CD34 FLT4
50 erythema elevatum diutinum 9.9 CD34 PECAM1

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



Diseases related to Kaposiform Hemangioendothelioma

Symptoms & Phenotypes for Kaposiform Hemangioendothelioma

MGI Mouse Phenotypes related to Kaposiform Hemangioendothelioma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 KDR MTOR PECAM1 PROX1 VWF FLI1
2 cellular MP:0005384 9.87 CD34 FLI1 KDR MTOR PECAM1 PROX1
3 hematopoietic system MP:0005397 9.8 CD34 FLI1 KDR MTOR PECAM1 PROX1
4 immune system MP:0005387 9.76 CD34 FLI1 FLT4 KDR MTOR PECAM1
5 liver/biliary system MP:0005370 9.35 FLI1 FLT4 KDR PECAM1 PROX1
6 muscle MP:0005369 9.1 FLI1 FLT4 KDR MTOR PECAM1 PROX1

Drugs & Therapeutics for Kaposiform Hemangioendothelioma

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
2
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Everolimus Approved Phase 2 159351-69-6 6442177
5
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
6
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
7
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
8 tannic acid Approved, Nutraceutical Phase 2
9 Prednisolone acetate Phase 2
10 glucocorticoids Phase 2
11 Methylprednisolone acetate Phase 2
12 Methylprednisolone Hemisuccinate Phase 2
13 Gastrointestinal Agents Phase 2
14 Neuroprotective Agents Phase 2
15 Hormone Antagonists Phase 2
16 Hormones Phase 2
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
18 Peripheral Nervous System Agents Phase 2
19 Anti-Bacterial Agents Phase 2
20 Antiemetics Phase 2
21 Anti-Infective Agents Phase 2
22 Antifungal Agents Phase 2
23 Prednisolone hemisuccinate Phase 2
24 Immunosuppressive Agents Phase 2
25 Prednisolone phosphate Phase 2
26 Anti-Inflammatory Agents Phase 2
27 Protective Agents Phase 2
28 Antimitotic Agents Phase 2
29 Antibiotics, Antitubercular Phase 2
30 Antineoplastic Agents, Hormonal Phase 2
31 Antineoplastic Agents, Phytogenic Phase 2
32 Autonomic Agents Phase 2
33 Mitogens
34 Endothelial Growth Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sirolimus Versus Sirolimus Plus Prednisolone for Kaposiform Hemangioendothelioma With Kasabach-Merritt Syndrome Recruiting NCT03188068 Phase 2 Sirolimus;Prednisolone
2 A Study to Compare Vincristine to Sirolimus for Treatment of High Risk Vascular Tumors Recruiting NCT02110069 Phase 2 Vincristine;Sirolimus
3 Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies Active, not recruiting NCT00975819 Phase 2 sirolimus
4 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
5 Lymphatic Anomalies Registry Recruiting NCT02399527

Search NIH Clinical Center for Kaposiform Hemangioendothelioma

Genetic Tests for Kaposiform Hemangioendothelioma

Anatomical Context for Kaposiform Hemangioendothelioma

MalaCards organs/tissues related to Kaposiform Hemangioendothelioma:

38
Endothelial, Skin, Spleen, Tongue, Bone, Cervix, Tonsil

Publications for Kaposiform Hemangioendothelioma

Articles related to Kaposiform Hemangioendothelioma:

(show top 50) (show all 144)
# Title Authors Year
1
Association between extremity kaposiform hemangioendothelioma and lymphedema. ( 29266383 )
2018
2
Sirolimus for treatment of Kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon: A retrospective cohort study. ( 29388191 )
2018
3
Successful Management of Pancreatic Kaposiform Hemangioendothelioma With Sirolimus: Case Report and Literature Review. ( 28426496 )
2017
4
Kaposiform hemangioendothelioma with Kasabach-Merritt syndrome: successful treatment with sirolimus. ( 28220608 )
2017
5
Kaposiform hemangioendothelioma in an adult with rheumatoid arthritis. ( 29154372 )
2017
6
Management of Refractory Pediatric Kaposiform Hemangioendothelioma With Sirolimus and Aspirin. ( 29240034 )
2017
7
Intestinal obstruction due to kaposiform hemangioendothelioma in a 1-month-old infant: A case report. ( 28906349 )
2017
8
Long-term outcome for kaposiform hemangioendothelioma: A report of two cases. ( 27701822 )
2017
9
Kaposiform Hemangioendothelioma Presenting as Hydrops Fetalis. ( 28318049 )
2017
10
Imaging findings of Kaposiform Hemangioendothelioma in children. ( 28027747 )
2017
11
Restricted Range of Motion and a Cold Upper Extremity in a Two-Year-Old Boy: Kaposiform Hemangioendothelioma of the Bone and the Brachial Plexus: A Case Report. ( 29286963 )
2017
12
Identical Presentation of Scapular Osteolysis in Two Patients with Thoracic Kaposiform Hemangioendothelioma. ( 28382716 )
2017
13
Sirolimus for the treatment of progressive kaposiform hemangioendothelioma: A multicenter retrospective study. ( 28486787 )
2017
14
Pancreatic Kaposiform Hemangioendothelioma Not Responding to Sirolimus. ( 28761800 )
2017
15
Sirolimus for treatment of kaposiform hemangioendothelioma associated with Kasabach-Merritt phenomenon. ( 27981218 )
2016
16
Multifocal Kaposiform Hemangioendothelioma Causing Massive Fetal Chylous Ascites. ( 27983885 )
2016
17
Kaposiform Hemangioendothelioma: Multifocal Involvement, Chylothorax, and Kasabach-Merritt Phenomenon. ( 27820128 )
2016
18
Neonatal kaposiform hemangioendothelioma of the spleen associated with Kasabach-Merritt phenomenon. ( 27342010 )
2016
19
Treatment of kaposiform hemangioendothelioma and tufted angioma. ( 27252149 )
2016
20
Successful Propranolol Treatment of a Kaposiform Hemangioendothelioma Apparently Resistant to Propranolol. ( 27100060 )
2016
21
Kaposiform Hemangioendothelioma in a 3A Months Old Infant. ( 27408442 )
2016
22
Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita. ( 27339319 )
2016
23
An intermediate vascular tumour between kaposiform hemangioendothelioma and tufted angioma with regression of the skin lesion. ( 27882874 )
2016
24
Abdominal Kaposiform Hemangioendothelioma Associated With Lymphangiomatosis Involving Mesentery and Ileum: A Case Report of MRI, CT, and 18F-FDG PET/CT Findings. ( 26871848 )
2016
25
Surgical treatment of a huge kaposiform hemangioendothelioma in the chest wall: A case study. ( 28228957 )
2016
26
Successful Everolimus Treatment of Kaposiform Hemangioendothelioma With Kasabach-Merritt Phenomenon: Clinical Efficacy and Adverse Effects of mTOR Inhibitor Therapy. ( 26907642 )
2016
27
Exome sequence analysis of Kaposiform hemangioendothelioma: identification of putative driver mutations. ( 28099595 )
2016
28
Recurrent multifocal cutaneous Kaposiform hemangioendothelioma: A rare vascular tumor of infancy and childhood. ( 27510687 )
2016
29
Response to Paclitaxel in an Adult Patient with Advanced Kaposiform Hemangioendothelioma. ( 27721772 )
2016
30
Interferon-alpha therapy for refractory kaposiform hemangioendothelioma: a single-center experience. ( 27796340 )
2016
31
Adult-onset Kaposiform hemangioendothelioma of the tongue: case report and review of the literature. ( 27803613 )
2016
32
The clinical spectrum of kaposiform hemangioendothelioma and tufted angioma. ( 27607323 )
2016
33
Clinical Outcomes for Systemic Corticosteroids Versus Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma. ( 27196448 )
2016
34
Role of Sirolimus in Advanced Kaposiform Hemangioendothelioma. ( 26864138 )
2016
35
Clinicopathological features of Kaposiform hemangioendothelioma. ( 26722599 )
2015
36
Comment on: Steroid-resistant kaposiform hemangioendothelioma: A retrospective study of 37 patients treated with vincristine and long-term follow-up. ( 26052679 )
2015
37
Kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon in a neonate of life- and limb-threatening nature: A case report. ( 26628813 )
2015
38
Refractory Kaposiform Hemangioendothelioma Associated with a Chromosomal Translocation t (13; 16) (q14; p13.3). ( 26555222 )
2015
39
Decreased vascularization of retroperitoneal kaposiform hemangioendothelioma induced by treatment with sirolimus explains relief of symptoms. ( 25662209 )
2015
40
The importance of early diagnosis and treatment of kaposiform hemangioendothelioma complicated by Kasabach-Merritt phenomenon. ( 25692091 )
2015
41
A case of kaposiform hemangioendothelioma at the sigmoid colon. ( 26062947 )
2015
42
Kaposiform hemangioendothelioma: therapeutic efficacy for an enigmatic diagnosis. ( 25559734 )
2015
43
Laryngomalacia and Complicated, Life-threatening mTOR-positive Kaposiform Hemangioendothelioma Cured by Supraglottoplasty and Sirolimus. ( 24810750 )
2014
44
A rare case of kaposiform hemangioendothelioma presenting as intussusception in a 4-month-old child without Kasabach-Merrit syndrome: A case report. ( 25336808 )
2014
45
CyberKnife Treatment for Kaposiform Hemangioendothelioma of the Ilium in an adult: case report and review of the literature. ( 25138302 )
2014
46
Kaposiform hemangioendothelioma of paranasal sinus. ( 24619771 )
2014
47
Sirolimus, a promising treatment for refractory Kaposiform hemangioendothelioma. ( 24464150 )
2014
48
Successful treatment of kaposiform hemangioendothelioma with everolimus. ( 25306933 )
2014
49
Multifocal kaposiform hemangioendothelioma of soft tissue with bilateral pulmonary involvement in an adolescent. ( 25550706 )
2014
50
Steroid-resistant kaposiform hemangioendothelioma: A retrospective study of 37 patients treated with vincristine and long-term follow-up. ( 25346262 )
2014

Variations for Kaposiform Hemangioendothelioma

Expression for Kaposiform Hemangioendothelioma

Search GEO for disease gene expression data for Kaposiform Hemangioendothelioma.

Pathways for Kaposiform Hemangioendothelioma

Pathways related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 FLT4 GNA14 KDR MTOR
2
Show member pathways
12.59 FLT4 GNA14 KDR MTOR
3
Show member pathways
12.38 FLT4 KDR MTOR VWF
4 12.18 CD34 FLI1 PECAM1
5
Show member pathways
12.1 FLT4 KDR MTOR
6
Show member pathways
11.92 FLT4 KDR MTOR
7
Show member pathways
11.84 FLT4 KDR MTOR
8
Show member pathways
11.51 KDR PECAM1 VWF
9 10.99 FLT4 KDR
10 10.97 FLT4 KDR PECAM1 PROX1 VWF
11
Show member pathways
10.16 FLT4 KDR

GO Terms for Kaposiform Hemangioendothelioma

Biological processes related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.69 KDR PECAM1 VWF
2 protein autophosphorylation GO:0046777 9.65 FLT4 KDR MTOR
3 positive regulation of protein phosphorylation GO:0001934 9.63 FLT4 KDR MTOR
4 hemostasis GO:0007599 9.52 FLI1 VWF
5 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.49 FLT4 KDR
6 lymph vessel development GO:0001945 9.43 FLT4 PROX1
7 lymphangiogenesis GO:0001946 9.4 FLT4 PROX1
8 positive regulation of vasculogenesis GO:2001214 9.37 CD34 KDR
9 positive regulation of endothelial cell migration GO:0010595 9.33 FLT4 KDR PROX1
10 vascular endothelial growth factor signaling pathway GO:0038084 9.32 FLT4 KDR
11 endothelium development GO:0003158 9.26 CD34 KDR
12 glomerular endothelium development GO:0072011 8.96 CD34 PECAM1
13 positive regulation of endothelial cell proliferation GO:0001938 8.92 FLT4 KDR MTOR PROX1

Molecular functions related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.16 FLT4 KDR
2 growth factor binding GO:0019838 8.96 FLT4 KDR
3 vascular endothelial growth factor-activated receptor activity GO:0005021 8.62 FLT4 KDR

Sources for Kaposiform Hemangioendothelioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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