MCID: TFT001
MIFTS: 47

Tufted Angioma malady

Rare diseases, Cardiovascular diseases, Fetal diseases categories

Summaries for Tufted Angioma

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 A tufted angioma (also known as an \"Acquired tufted angioma,\" \"Angioblastoma,\" \"Angioblastoma of... more...

MalaCards: Tufted Angioma, also known as nakagawa angioblastoma, is related to hemangioendothelioma and sarcoma. An important gene associated with Tufted Angioma is FLT4 (fms-related tyrosine kinase 4), and among its related pathways are Akt Signaling Pathway and Tyrosine Kinases / Adaptors. The compounds regorafenib and agar have been mentioned in the context of this disorder. Affiliated tissues include liver and endothelial, and related mouse phenotypes are muscle and normal.

Description from OMIM:48 607859

Aliases & Classifications for Tufted Angioma

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Sources:
44NIH Rare Diseases, 50Orphanet, 48OMIM, 63UMLS, 46Novoseek, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

50
tufted angioma:
Inheritance: Multigenic/multifactorial,Sporadic; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

tufted angioma 44 50 48 63
nakagawa angioblastoma 50
angioma, tufted 46
angioma tufted 44


External Ids:

OMIM48 607859
MESH via Orphanet37 C536924
ICD10 via Orphanet27 D18.0
SNOMED-CT via Orphanet60 254786000
UMLS via Orphanet64 C0346073

Related Diseases for Tufted Angioma

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Tufted Angioma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioendothelioma30.9IFNA2, FLT4
2sarcoma30.5FLT4, ENG, TEK
3kaposi's sarcoma30.4TEK, IFNA2, FLT4
4hemangioma30.4TEK, FLT4, PROX1, IFNA2
5pyogenic granuloma30.3TEK, FLT4
6angiosarcoma30.3TEK, FLT4
7kaposiform hemangioendothelioma10.6
8neurofibromatosis10.2
9myofascial pain syndrome10.2
10herpes zoster10.2
11capillary hemangioma10.2
12cavernous hemangioma10.2
13hemangioma thrombocytopenia syndrome10.2
14paine syndrome10.2
15endotheliitis10.2
16lymphangiosarcoma10.1PROX1
17klippel-trenaunay syndrome10.1FLT4
18lymphangioma10.0PROX1, FLT4
19inflammatory breast carcinoma10.0PROX1, TEK
20lymphedema10.0PROX1, FLT4
21intracranial hemorrhage in brain cerebrovascular malformations10.0TEK, ENG
22vascular cancer10.0FLT4, ENG
23laryngeal benign neoplasm10.0ENG, FLT4
24non-small cell lung carcinoma10.0TEK, FLT4
25papillary thyroid carcinoma10.0ENG, TEK
26epithelioid hemangioendothelioma10.0IFNA2, FLT4
27papilloma10.0FLT4, IFNA2
28endometriosis10.0ENG, TEK
29proteinuria10.0ENG, TEK
30pancreatic cancer10.0ENG, FLT4
31vascular disease10.0ENG, TEK
32myeloproliferative disorder10.0IFNA2, ENG
33pre-eclampsia10.0TEK, ENG
34coronary artery disease10.0ENG, TEK
35hepatitis c10.0IFNA2, ENG
36endometrial carcinoma10.0TEK, FLT4, ENG
37glioblastoma multiforme10.0TEK, FLT4, ENG
38stomach cancer10.0ENG, FLT4, TEK
39breast cancer10.0FLT4, ENG, TEK
40malignant glioma10.0TEK, FLT4, ENG
41tongue squamous cell carcinoma10.0FLT4, ENG, TEK
42adenocarcinoma10.0TEK, FLT4, ENG
43chronic myeloid leukemia9.9ENG, IFNA2
44prostate cancer9.9TEK, FLT4, ENG
45colorectal cancer9.9ENG, FLT4, IFNA2
46hepatocellular carcinoma9.9IFNA2, ENG, TEK
47deficiency anemia9.9ENG, IFNA2
48kidney cancer9.9IFNA2, ENG, FLT4, TEK
49melanoma9.9ENG, IFNA2, FLT4, TEK
50leukemia9.9IFNA2, FLT4, ENG, TEK

Graphical network of the top 20 diseases related to Tufted Angioma:



Diseases related to tufted angioma

Symptoms for Tufted Angioma

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48OMIM
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Symptoms by clinical synopsis from OMIM:

607859

Clinical features from OMIM:

607859

Drugs & Therapeutics for Tufted Angioma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Tufted Angioma

Drug clinical trials:

Search ClinicalTrials for Tufted Angioma

Search NIH Clinical Center for Tufted Angioma

Search CenterWatch for Tufted Angioma

Genetic Tests for Tufted Angioma

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Anatomical Context for Tufted Angioma

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34MalaCards
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MalaCards organs/tissues related to Tufted Angioma:

34
Liver, Endothelial

Animal Models for Tufted Angioma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Tufted Angioma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7ENG, FLT4, TEK
2MP:00028738.2ENG, PROX1, FLT4, TEK
3MP:00053858.2TEK, FLT4, PROX1, ENG
4MP:00053788.1TEK, FLT4, PROX1, ENG
5MP:00053767.9ENG, PROX1, FLT4, TEK

Publications for Tufted Angioma

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53PubMed
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Articles related to Tufted Angioma:

(show top 50)    (show all 86)
idTitleAuthorsYear
1
Tufted angioma of the face. (23706996)
2013
2
Tufted angioma arising at a site of BCG vaccination. (23238237)
2013
3
Resection of a huge tufted angioma of orbit and orbitocranial mesh reconstruction. (23700166)
2013
4
An acquired tufted angioma of the nasal cavity. (23518006)
2013
5
Acquired tufted angioma in pregnancy showing expression of estrogen and progesterone receptors. (24185824)
2013
6
Acquired capillary hemangioma with features of tufted angioma in the external auditory canal. (23714987)
2013
7
Tufted angioma (Angioblastoma) of eyelid in adults-report of two cases. (24044498)
2013
8
Acquired tufted angioma of upper lip: case report and review of the literature. (23526035)
2013
9
Variable response to propranolol treatment of kaposiform hemangioendothelioma, tufted angioma, and Kasabach-Merritt phenomenon. (22648868)
2012
10
Tufted angioma and myofascial pain syndrome. (21437533)
2011
11
Kasabach-merritt syndrome arising from tufted angioma successfully treated with systemic corticosteroid. (21165213)
2010
12
Expression of prox1, lymphatic endothelial nuclear transcription factor, in Kaposiform hemangioendothelioma and tufted angioma. (20975337)
2010
13
Congenital tufted angioma: Case report and review of the literature. (20492819)
2010
14
Tufted angioma associated with Kasabach-Merritt phenomenon: a therapeutic challenge. (20814640)
2010
15
Tufted angioma presented with segmental hyperpigmented plaque in a young Chinese woman. (20175859)
2010
16
Extensive tufted angioma of the left arm in a 47-year-old woman. (19323667)
2009
17
Tufted angioma. (19061619)
2008
18
Tufted angioma-associated Kasabach-Merritt syndrome treated with embolization and vincristine. (18301012)
2008
19
Treatment of a tufted angioma with intense pulsed light. (17520468)
2007
20
Usefulness of D2-40 immunohistochemistry for differentiation between kaposiform hemangioendothelioma and tufted angioma. (16872472)
2006
21
Congenital, self-regressing tufted angioma. (16785378)
2006
22
Tufted angioma. (16409274)
2005
23
Partial response to treatment with recombinant interferon-alpha2a in an adult patient with tufted angioma. (14678556)
2004
24
Transformation between Kaposiform hemangioendothelioma and tufted angioma. (12771476)
2003
25
Familial predisposition to tufted angioma: identification of blood and lymphatic vascular components. (12752572)
2003
26
Retroperitoneal kaposiform hemangioendothelioma with tufted angioma-like features in an infant with Kasabach-Merritt syndrome. (14507321)
2003
27
Tufted angioma on the palm. (11737701)
2001
28
The relationship between angioblastoma (Nakagawa) and tufted angioma: report of four cases with angioblastoma and a literature-based comparison of the two conditions. (10989580)
2000
29
Tufted angioma of adult onset, revealing abundant eccrine glands and central regression. (10971067)
2000
30
Spontaneous regression of a tufted angioma. (11167986)
2000
31
Intravenous tufted angioma. (10843417)
2000
32
Acquired tufted angioma: a unique vascular lesion not previously reported in the oral mucosa. (10792235)
2000
33
Acquired tufted angioma of the lower lip mucosa. (10859727)
2000
34
Kasabach-Merritt syndrome: identification of platelet trapping in a tufted angioma by immunohistochemistry technique using monoclonal antibody to CD61. (10571842)
1999
35
Interferon for tufted angioma. (10515775)
1999
36
Acquired tufted angioma in association with a complex cutaneous vascular malformation. (10722273)
1999
37
Vascular tumors arising in port-wine stains: two cases of pyogenic granuloma and a case of acquired tufted angioma. (10659503)
1999
38
Tufted angioma, a particular form of angioma. (9252776)
1997
39
Tufted angioma: is it the same as angioblastoma (Nakagawa)? (9197842)
1997
40
Metastatic tufted angioma. (9259505)
1997
41
Tufted angioma associated with platelet trapping syndrome: response to aspirin. (9301583)
1997
42
A case of deep tufted angioma. (8632093)
1996
43
Acquired tufted angioma frequently develops at sites other than the neck and upper trunk. (8689780)
1996
44
Tufted angioma of the thigh. (8034793)
1994
45
Cutaneous tufted angioma as a differential diagnosis to Kaposi's sarcoma in HIV infection. (8060554)
1994
46
Acquired tufted angioma associated with pregnancy. (1486719)
1992
47
An eruptive vascular proliferation resembling acquired tufted angioma in the recipient of a liver transplant. (1569251)
1992
48
Familial tufted angioma. (1458641)
1992
49
Tufted angioma (angioblastoma). A benign progressive angioma, not to be confused with Kaposi's sarcoma or low-grade angiosarcoma. (2644316)
1989
50
Acquired tufted angioma. (3777379)
1986

Variations for Tufted Angioma

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Expression for genes affiliated with Tufted Angioma

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tufted Angioma

Search GEO for disease gene expression data for Tufted Angioma.

Pathways for genes affiliated with Tufted Angioma

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Sources:
51PathCards, 55R&D Systems, 5Cell Signaling Technology, 54QIAGEN, 31KEGG
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Compounds for genes affiliated with Tufted Angioma

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Sources:
52PharmGKB, 12DrugBank, 46Novoseek, 25HMDB
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Compounds related to Tufted Angioma according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1regorafenib52 1210.4FLT4, TEK
2agar469.3ENG, IFNA2
3p002469.1TEK, ENG
4infliximab46 52 1211.1IFNA2, TEK
5matrigel468.9ENG, FLT4, TEK
6paraffin468.8TEK, FLT4, ENG
7estrogen468.8ENG, IFNA2, FLT4
8oxygen46 259.3TEK, FLT4, IFNA2, ENG
9cysteine468.2ENG, IFNA2, TEK
10tyrosine468.2ENG, IFNA2, FLT4, TEK
11vegf467.8ENG, IFNA2, PROX1, FLT4, TEK

GO Terms for genes affiliated with Tufted Angioma

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17Gene Ontology
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Biological processes related to Tufted Angioma according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1lymphangiogenesisGO:0019469.6FLT4, PROX1
2venous blood vessel morphogenesisGO:0488459.6ENG, PROX1
3sprouting angiogenesisGO:0020409.3FLT4, TEK
4transmembrane receptor protein tyrosine kinase signaling pathwayGO:0071699.3FLT4, TEK
5peptidyl-tyrosine phosphorylationGO:0181089.2TEK, FLT4
6protein autophosphorylationGO:0467779.2FLT4, TEK
7positive regulation of ERK1 and ERK2 cascadeGO:0703749.1FLT4, TEK
8positive regulation of endothelial cell migrationGO:0105958.9PROX1, FLT4, TEK
9positive regulation of endothelial cell proliferationGO:0019388.9PROX1, FLT4, TEK
10positive regulation of protein phosphorylationGO:0019348.9TEK, FLT4, ENG
11response to hypoxiaGO:0016668.8ENG, TEK

Molecular functions related to Tufted Angioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor bindingGO:0198389.1FLT4, TEK
2transmembrane receptor protein tyrosine kinase activityGO:0047148.9FLT4, TEK
3protein bindingGO:0055157.5ENG, IFNA2, PROX1, FLT4, TEK

Products for genes affiliated with Tufted Angioma

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Sources for Tufted Angioma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet