KH
MCID: KPS002
MIFTS: 41

Kaposiform Hemangioendothelioma (KH) malady

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Kaposiform Hemangioendothelioma

Aliases & Descriptions for Kaposiform Hemangioendothelioma:

Name: Kaposiform Hemangioendothelioma 50 56 69
Congenital Cutaneous Multifocal Kaposiform Hemangioendothelioma 50
Kaposiform Hemangio-Endothelioma 50
Khe 50
Kh 50

Characteristics:

Orphanet epidemiological data:

56
kaposiform hemangioendothelioma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 56 ORPHA2122
ICD10 via Orphanet 34 D18.0
MESH via Orphanet 43 C537007
UMLS via Orphanet 70 C1367420

Summaries for Kaposiform Hemangioendothelioma

MalaCards based summary : Kaposiform Hemangioendothelioma, also known as congenital cutaneous multifocal kaposiform hemangioendothelioma, is related to angioma, tufted and hemangioma-thrombocytopenia syndrome. 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 Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, endothelial and tongue, 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 75)
id Related Disease Score Top Affiliating Genes
1 angioma, tufted 11.1
2 hemangioma-thrombocytopenia syndrome 11.1
3 hemangioendothelioma 10.9
4 lysteria monocytoigeneses meningitis 10.2 FLT4 PROX1
5 hypomelanosis of ito 10.2 FLT4 PROX1
6 pilomyxoid astrocytoma 10.2 FLT4 PROX1
7 oculodentodigital dysplasia 10.2 FLT4 PROX1
8 chromosome 18 pericentric inversion 10.2 FLT4 PROX1
9 acrofacial dysostosis, patagonia type 10.2 FLT4 PROX1
10 gapo syndrome 10.2 FLT4 KDR
11 eosinophilic pneumonia 10.2 FLT4 KDR
12 intracranial hypotension 10.2 KDR PROX1
13 lymphangiomatosis 10.1
14 hemangioma 10.1
15 pustulosis palmaris et plantaris 10.1 KDR PECAM1
16 neuropathy with hearing impairment 10.1 KDR PECAM1
17 benign idiopathic neonatal seizures 10.1 KDR PECAM1
18 factitious disorder 10.1 FLT4 KDR
19 benign familial neonatal epilepsy 10.1 FLT4 KDR PROX1
20 lymphoma, large-cell, immunoblastic 10.1 FLT4 KDR PROX1
21 mediastinitis 10.1
22 central cervical cord syndrome 10.1 FLT4 PROX1
23 lymph node disease 10.1 FLT4 PECAM1
24 vesiculobullous skin disease 10.0 FLT4 KDR PECAM1
25 colonic benign neoplasm 10.0 MTOR VWF
26 phencyclidine abuse 10.0 CD34 FLT4
27 charcot-marie-tooth disease, axonal, type 2f 10.0 KDR PECAM1
28 ritscher-schinzel syndrome 1 10.0 CD34 PECAM1
29 endotheliitis 10.0
30 alcohol-induced mental disorder 10.0 CD34 KDR
31 dermoid cyst 10.0 CD34 VWF
32 intraneural perineurioma 9.9 CD34 VWF
33 fragile x syndrome 9.9
34 ovarian brenner tumor 9.9 FLT4 KDR MTOR
35 mucoepidermoid esophageal carcinoma 9.9 CD34 VWF
36 cycloplegia 9.9 CD34 FLT4 PROX1
37 hemiplegic migraine 9.9 FLI1 FLT4 KDR PECAM1
38 saethre-chotzen syndrome 9.9 CD34 FLT4 KDR
39 extranodal nasal nk/t cell lymphoma 9.9 FLI1 MTOR
40 tonsillitis 9.8
41 sarcoma 9.8
42 pericardial effusion 9.8
43 lymphangioma 9.8
44 lymphatic malformations 9.8
45 laryngomalacia 9.8
46 cervicitis 9.8
47 soft tissue sarcoma 9.8
48 laryngitis 9.8
49 duodenal obstruction 9.8
50 pancreatitis 9.8

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 FLI1 FLT4 KDR MTOR PECAM1 PROX1
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 MTOR PECAM1 PROX1 VWF CD34 FLI1
5 liver/biliary system MP:0005370 9.35 PECAM1 PROX1 FLI1 FLT4 KDR
6 muscle MP:0005369 9.02 FLI1 FLT4 KDR MTOR PECAM1

Drugs & Therapeutics for Kaposiform Hemangioendothelioma

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Everolimus Approved Phase 2 159351-69-6 6442177
4
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
5
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
6 tannic acid Approved, Nutraceutical Phase 2
7 Anti-Bacterial Agents Phase 2
8 Anti-Infective Agents Phase 2
9 Immunosuppressive Agents Phase 2
10 Antifungal Agents Phase 2
11 Antibiotics, Antitubercular Phase 2
12 Antimitotic Agents Phase 2
13 Antineoplastic Agents, Phytogenic Phase 2
14 Mitogens
15 Endothelial Growth Factors

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study to Compare Vincristine to Sirolimus for Treatment of High Risk Vascular Tumors Recruiting NCT02110069 Phase 2
2 Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies Active, not recruiting NCT00975819 Phase 2
3 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
4 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:

39
Skin, Endothelial, Tongue, Spleen, Breast, Cervix, Tonsil

Publications for Kaposiform Hemangioendothelioma

Articles related to Kaposiform Hemangioendothelioma:

(show top 50) (show all 130)
id Title Authors Year
1
Long-term outcome for kaposiform hemangioendothelioma: A report of two cases. ( 27701822 )
2017
2
Imaging findings of Kaposiform Hemangioendothelioma in children. ( 28027747 )
2017
3
Kaposiform Hemangioendothelioma in a 3A Months Old Infant. ( 27408442 )
2016
4
Role of Sirolimus in Advanced Kaposiform Hemangioendothelioma. ( 26864138 )
2016
5
Neonatal kaposiform hemangioendothelioma of the spleen associated with Kasabach-Merritt phenomenon. ( 27342010 )
2016
6
Sirolimus for treatment of kaposiform hemangioendothelioma associated with Kasabach-Merritt phenomenon. ( 27981218 )
2016
7
Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita. ( 27339319 )
2016
8
Kaposiform Hemangioendothelioma: Multifocal Involvement, Chylothorax, and Kasabach-Merritt Phenomenon. ( 27820128 )
2016
9
Treatment of kaposiform hemangioendothelioma and tufted angioma. ( 27252149 )
2016
10
Recurrent multifocal cutaneous Kaposiform hemangioendothelioma: A rare vascular tumor of infancy and childhood. ( 27510687 )
2016
11
Successful Propranolol Treatment of a Kaposiform Hemangioendothelioma Apparently Resistant to Propranolol. ( 27100060 )
2016
12
Abdominal Kaposiform Hemangioendothelioma Associated With Lymphangiomatosis Involving Mesentery and Ileum: A Case Report of MRI, CT, and 18F-FDG PET/CT Findings. ( 26871848 )
2016
13
Interferon-alpha therapy for refractory kaposiform hemangioendothelioma: a single-center experience. ( 27796340 )
2016
14
Successful Everolimus Treatment of Kaposiform Hemangioendothelioma With Kasabach-Merritt Phenomenon: Clinical Efficacy and Adverse Effects of mTOR Inhibitor Therapy. ( 26907642 )
2016
15
An intermediate vascular tumour between kaposiform hemangioendothelioma and tufted angioma with regression of the skin lesion. ( 27882874 )
2016
16
Multifocal Kaposiform Hemangioendothelioma Causing Massive Fetal Chylous Ascites. ( 27983885 )
2016
17
Adult-onset Kaposiform hemangioendothelioma of the tongue: case report and review of the literature. ( 27803613 )
2016
18
The clinical spectrum of kaposiform hemangioendothelioma and tufted angioma. ( 27607323 )
2016
19
Response to Paclitaxel in an Adult Patient with Advanced Kaposiform Hemangioendothelioma. ( 27721772 )
2016
20
Clinical Outcomes for Systemic Corticosteroids Versus Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma. ( 27196448 )
2016
21
Comment on: Steroid-resistant kaposiform hemangioendothelioma: A retrospective study of 37 patients treated with vincristine and long-term follow-up. ( 26052679 )
2015
22
Refractory Kaposiform Hemangioendothelioma Associated with a Chromosomal Translocation t (13; 16) (q14; p13.3). ( 26555222 )
2015
23
Kaposiform hemangioendothelioma: therapeutic efficacy for an enigmatic diagnosis. ( 25559734 )
2015
24
Clinicopathological features of Kaposiform hemangioendothelioma. ( 26722599 )
2015
25
Decreased vascularization of retroperitoneal kaposiform hemangioendothelioma induced by treatment with sirolimus explains relief of symptoms. ( 25662209 )
2015
26
The importance of early diagnosis and treatment of kaposiform hemangioendothelioma complicated by Kasabach-Merritt phenomenon. ( 25692091 )
2015
27
A case of kaposiform hemangioendothelioma at the sigmoid colon. ( 26062947 )
2015
28
Kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon in a neonate of life- and limb-threatening nature: A case report. ( 26628813 )
2015
29
A rare case of kaposiform hemangioendothelioma presenting as intussusception in a 4-month-old child without Kasabach-Merrit syndrome: A case report. ( 25336808 )
2014
30
Infantile hemangioma or kaposiform hemangioendothelioma? ( 24745913 )
2014
31
Treating kaposiform hemangioendothelioma with kasabach-merritt phenomenon by intralesional injection of absolute ethanol. ( 25318440 )
2014
32
Laryngomalacia and Complicated, Life-threatening mTOR-positive Kaposiform Hemangioendothelioma Cured by Supraglottoplasty and Sirolimus. ( 24810750 )
2014
33
Successful treatment of kaposiform hemangioendothelioma with everolimus. ( 25306933 )
2014
34
Pancreatic kaposiform hemangioendothelioma presenting with duodenal obstruction and kasabach-merritt phenomenon: a neonate cured by whipple operation. ( 25755958 )
2014
35
CyberKnife Treatment for Kaposiform Hemangioendothelioma of the Ilium in an adult: case report and review of the literature. ( 25138302 )
2014
36
Multifocal kaposiform hemangioendothelioma in multiple visceral organs: an autopsy of 9-day-old female baby. ( 24931465 )
2014
37
Steroid-resistant kaposiform hemangioendothelioma: A retrospective study of 37 patients treated with vincristine and long-term follow-up. ( 25346262 )
2014
38
Congenital fulminant Kaposiform hemangioendothelioma of the leg. ( 25277314 )
2014
39
Variable response to propranolol treatment of kaposiform hemangioendothelioma, tufted angioma, and Kasabach-Merritt phenomenon. ( 24482015 )
2014
40
Multifocal kaposiform hemangioendothelioma of soft tissue with bilateral pulmonary involvement in an adolescent. ( 25550706 )
2014
41
Kaposiform hemangioendothelioma with Kasabach-Merritt syndrome mistaken for child abuse in a newborn. ( 24738105 )
2014
42
Kaposiform hemangioendothelioma of paranasal sinus. ( 24619771 )
2014
43
Sirolimus, a promising treatment for refractory Kaposiform hemangioendothelioma. ( 24464150 )
2014
44
Kaposiform hemangioendothelioma: atypical features and risks of Kasabach-Merritt phenomenon in 107 referrals. ( 22871490 )
2013
45
Successful Treatment of Kasabach-Merritt Phenomenon Arising From Kaposiform Hemangioendothelioma by Sirolimus. ( 24309604 )
2013
46
Consensus-derived practice standards plan for complicated Kaposiform hemangioendothelioma. ( 23796341 )
2013
47
Microscopic Kaposiform hemangioendothelioma with extensive lymphangiomatosis: an extraordinary example of an unusual entity. ( 23129838 )
2013
48
Paclitaxel-based chemotherapy for aggressive kaposiform hemangioendothelioma of the temporomastoid region: Case report and review of the literature. ( 22907922 )
2013
49
Expansile kaposiform hemangioendothelioma deformed thoracic cage in an adult. ( 24182473 )
2013
50
Kaposiform hemangioendothelioma complicated by Kasabach-Merritt phenomenon: ultrastructural observation and immunohistochemistry staining reveal the trapping of blood components. ( 24134598 )
2013

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:

id 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 12.15 CD34 FLI1 PECAM1
4
Show member pathways
12.1 FLT4 KDR MTOR
5
Show member pathways
11.97 FLT4 KDR MTOR
6 11.79 FLT4 KDR MTOR VWF
7
Show member pathways
11.71 FLT4 KDR MTOR
8
Show member pathways
11.61 KDR PECAM1 VWF
9 10.96 FLT4 KDR PECAM1 PROX1 VWF
10
Show member pathways
10.36 FLT4 KDR

GO Terms for Kaposiform Hemangioendothelioma

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.69 KDR PECAM1 VWF
2 protein autophosphorylation GO:0046777 9.67 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 9.48 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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