MCID: TFT001
MIFTS: 47

Tufted Angioma malady

Rare diseases, Cardiovascular diseases, Fetal diseases categories

Summaries for Tufted Angioma

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Wikipedia:65 A tufted angioma (also known as an \"Acquired tufted angioma,\" \"Angioblastoma,\" \"Angioblastoma of... more...

MalaCards based summary: Tufted Angioma, also known as nakagawa angioblastoma, is related to hemangioendothelioma and sarcoma, and has symptoms including autosomal dominant inheritance, abnormality of skin pigmentation and incomplete penetrance. 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 skin, liver and endothelial, and related mouse phenotypes are muscle and normal.

Aliases & Classifications for Tufted Angioma

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Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Tufted Angioma, Aliases & Descriptions:

Name: Tufted Angioma 43 49 62
Nakagawa Angioblastoma 43 49
 
Angioma, Tufted 45
Angioma Tufted 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
tufted angioma:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Orphanet49 1063
MESH via Orphanet36 C536924
ICD10 via Orphanet28 D18.0
UMLS via Orphanet63 C0346073

Related Diseases for Tufted Angioma

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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
1hemangioendothelioma30.9FLT4, IFNA2
2sarcoma30.5TEK, FLT4, ENG
3hemangioma30.5IFNA2, PROX1, FLT4, TEK
4pyogenic granuloma30.3TEK, FLT4
5angiosarcoma30.3FLT4, TEK
6kaposiform hemangioendothelioma10.6
7myofascial pain syndrome10.2
8neurofibromatosis10.2
9herpes zoster10.2
10arteriovenous malformation10.2
11capillary hemangioma10.2
12cavernous hemangioma10.2
13hemangioma thrombocytopenia syndrome10.2
14endotheliitis10.2
15lymphangiosarcoma10.1PROX1
16klippel-trenaunay-weber syndrome10.0FLT4
17lymphangioma10.0PROX1, FLT4
18inflammatory breast carcinoma10.0PROX1, TEK
19lymphedema10.0PROX1, FLT4
20cerebral arteriovenous malformation10.0TEK, ENG
21vascular cancer10.0FLT4, ENG
22laryngeal carcinoma10.0ENG, FLT4
23lung cancer10.0FLT4, TEK
24thyroid carcinoma, papillary10.0ENG, TEK
25epithelioid hemangioendothelioma10.0FLT4, IFNA2
26papilloma10.0IFNA2, FLT4
27endometriosis10.0TEK, ENG
28proteinuria10.0TEK, ENG
29pancreatic cancer10.0ENG, FLT4
30vascular disease10.0TEK, ENG
31bone marrow cancer10.0ENG, IFNA2
32preeclampsia/eclampsia 110.0ENG, TEK
33coronary artery disease10.0ENG, TEK
34hepatitis c10.0ENG, IFNA2
35endometrial cancer10.0TEK, FLT4, ENG
36glioblastoma10.0TEK, FLT4, ENG
37gastric cancer, somatic10.0ENG, FLT4, TEK
38breast cancer10.0TEK, FLT4, ENG
39malignant glioma10.0ENG, FLT4, TEK
40tongue squamous cell carcinoma10.0TEK, FLT4, ENG
41kaposi sarcoma10.0TEK, FLT4, IFNA2
42adenocarcinoma10.0ENG, FLT4, TEK
43leukemia, chronic myeloid10.0ENG, IFNA2
44prostate cancer10.0ENG, FLT4, TEK
45colorectal cancer10.0ENG, IFNA2, FLT4
46hepatocellular carcinoma10.0TEK, IFNA2, ENG
47deficiency anemia10.0ENG, IFNA2
48kidney cancer9.9ENG, IFNA2, FLT4, TEK
49melanoma9.9ENG, IFNA2, FLT4, TEK
50leukemia9.9ENG, IFNA2, FLT4, 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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HPO human phenotypes related to Tufted Angioma:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of skin pigmentation HP:0001000
3 incomplete penetrance HP:0003829
4 vascular skin abnormality HP:0011276
5 tufted angioma HP:0012329

Drugs & Therapeutics for Tufted Angioma

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Drug clinical trials:

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Search NIH Clinical Center for Tufted Angioma

Genetic Tests for Tufted Angioma

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Anatomical Context for Tufted Angioma

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MalaCards organs/tissues related to Tufted Angioma:

33
Skin, Liver, Endothelial

Animal Models for Tufted Angioma or affiliated genes

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MGI Mouse Phenotypes related to Tufted Angioma:

37
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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Articles related to Tufted Angioma:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
Kasabach-Merritt phenomenon in an adult man with a tufted angioma and cirrhosis responding to radiation, bevacizumab, and prednisone. (24697614)
2014
2
Tufted angioma with Kasabach-Merritt syndrome mistaken for child abuse. (25459275)
2014
3
Tufted angioma in children: report of two cases and a review of the literature. (25436158)
2014
4
Tufted angioma of the face. (23706996)
2013
5
Tufted angioma arising at a site of BCG vaccination. (23238237)
2013
6
Resection of a huge tufted angioma of orbit and orbitocranial mesh reconstruction. (23700166)
2013
7
An acquired tufted angioma of the nasal cavity. (23518006)
2013
8
Acquired tufted angioma in pregnancy showing expression of estrogen and progesterone receptors. (24185824)
2013
9
Acquired capillary hemangioma with features of tufted angioma in the external auditory canal. (23714987)
2013
10
Tufted angioma (Angioblastoma) of eyelid in adults-report of two cases. (24044498)
2013
11
Acquired tufted angioma of upper lip: case report and review of the literature. (23526035)
2013
12
Variable response to propranolol treatment of kaposiform hemangioendothelioma, tufted angioma, and Kasabach-Merritt phenomenon. (22648868)
2012
13
Tufted angioma and myofascial pain syndrome. (21437533)
2011
14
Kasabach-merritt syndrome arising from tufted angioma successfully treated with systemic corticosteroid. (21165213)
2010
15
Expression of prox1, lymphatic endothelial nuclear transcription factor, in Kaposiform hemangioendothelioma and tufted angioma. (20975337)
2010
16
Congenital tufted angioma: Case report and review of the literature. (20492819)
2010
17
Tufted angioma associated with Kasabach-Merritt phenomenon: a therapeutic challenge. (20814640)
2010
18
Tufted angioma presented with segmental hyperpigmented plaque in a young Chinese woman. (20175859)
2010
19
Extensive tufted angioma of the left arm in a 47-year-old woman. (19323667)
2009
20
Tufted angioma. (19061619)
2008
21
Tufted angioma-associated Kasabach-Merritt syndrome treated with embolization and vincristine. (18301012)
2008
22
Treatment of a tufted angioma with intense pulsed light. (17520468)
2007
23
Usefulness of D2-40 immunohistochemistry for differentiation between kaposiform hemangioendothelioma and tufted angioma. (16872472)
2006
24
Congenital, self-regressing tufted angioma. (16785378)
2006
25
Tufted angioma. (16409274)
2005
26
Partial response to treatment with recombinant interferon-alpha2a in an adult patient with tufted angioma. (14678556)
2004
27
Transformation between Kaposiform hemangioendothelioma and tufted angioma. (12771476)
2003
28
Familial predisposition to tufted angioma: identification of blood and lymphatic vascular components. (12752572)
2003
29
Retroperitoneal kaposiform hemangioendothelioma with tufted angioma-like features in an infant with Kasabach-Merritt syndrome. (14507321)
2003
30
Tufted angioma on the palm. (11737701)
2001
31
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
32
Tufted angioma of adult onset, revealing abundant eccrine glands and central regression. (10971067)
2000
33
Spontaneous regression of a tufted angioma. (11167986)
2000
34
Intravenous tufted angioma. (10843417)
2000
35
Acquired tufted angioma: a unique vascular lesion not previously reported in the oral mucosa. (10792235)
2000
36
Acquired tufted angioma of the lower lip mucosa. (10859727)
2000
37
Kasabach-Merritt syndrome: identification of platelet trapping in a tufted angioma by immunohistochemistry technique using monoclonal antibody to CD61. (10571842)
1999
38
Interferon for tufted angioma. (10515775)
1999
39
Acquired tufted angioma in association with a complex cutaneous vascular malformation. (10722273)
1999
40
Vascular tumors arising in port-wine stains: two cases of pyogenic granuloma and a case of acquired tufted angioma. (10659503)
1999
41
Tufted angioma, a particular form of angioma. (9252776)
1997
42
Tufted angioma: is it the same as angioblastoma (Nakagawa)? (9197842)
1997
43
Metastatic tufted angioma. (9259505)
1997
44
Tufted angioma associated with platelet trapping syndrome: response to aspirin. (9301583)
1997
45
A case of deep tufted angioma. (8632093)
1996
46
Tufted angioma of the thigh. (8034793)
1994
47
Acquired tufted angioma associated with pregnancy. (1486719)
1992
48
An eruptive vascular proliferation resembling acquired tufted angioma in the recipient of a liver transplant. (1569251)
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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Search GEO for disease gene expression data for Tufted Angioma.

Pathways for genes affiliated with Tufted Angioma

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Compounds for genes affiliated with Tufted Angioma

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Sources:
51PharmGKB, 13DrugBank, 45Novoseek, 26HMDB
See all sources

Compounds related to Tufted Angioma according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1regorafenib51 1310.4FLT4, TEK
2agar459.3ENG, IFNA2
3p002459.1TEK, ENG
4infliximab45 51 1311.1IFNA2, TEK
5matrigel458.9ENG, FLT4, TEK
6paraffin458.8TEK, FLT4, ENG
7estrogen458.8ENG, IFNA2, FLT4
8oxygen45 269.3TEK, FLT4, IFNA2, ENG
9cysteine458.2ENG, IFNA2, TEK
10tyrosine458.2ENG, IFNA2, FLT4, TEK
11vegf457.8ENG, IFNA2, PROX1, FLT4, TEK

GO Terms for genes affiliated with Tufted Angioma

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Biological processes related to Tufted Angioma according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1lymphangiogenesisGO:00019469.6FLT4, PROX1
2venous blood vessel morphogenesisGO:00488459.6ENG, PROX1
3sprouting angiogenesisGO:00020409.3FLT4, TEK
4transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.3FLT4, TEK
5peptidyl-tyrosine phosphorylationGO:00181089.2TEK, FLT4
6protein autophosphorylationGO:00467779.2FLT4, TEK
7positive regulation of ERK1 and ERK2 cascadeGO:00703749.1FLT4, TEK
8positive regulation of endothelial cell migrationGO:00105958.9PROX1, FLT4, TEK
9positive regulation of endothelial cell proliferationGO:00019388.9PROX1, FLT4, TEK
10positive regulation of protein phosphorylationGO:00019348.9TEK, FLT4, ENG
11response to hypoxiaGO:00016668.8ENG, TEK

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

idNameGO IDScoreTop Affiliating Genes
1growth factor bindingGO:00198389.1FLT4, TEK
2transmembrane receptor protein tyrosine kinase activityGO:00047148.9FLT4, TEK
3protein bindingGO:00055157.5ENG, IFNA2, PROX1, FLT4, TEK

Products for genes affiliated with Tufted Angioma

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Sources for Tufted Angioma

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet