MCID: ANG065
MIFTS: 38

Angioma, Tufted

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases, Skin diseases

Aliases & Classifications for Angioma, Tufted

MalaCards integrated aliases for Angioma, Tufted:

Name: Angioma, Tufted 57 55
Tufted Angioma 57 76 53 59
Nakagawa Angioblastoma 59
Tufted Angioma of Skin 73
Angioma Tufted 53

Characteristics:

Orphanet epidemiological data:

59
tufted angioma
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
usually occurs in children younger than 5 years
may occur in adults (also in pregnancy)
slow, progressive growth, then stable
may regress
reduced penetrance


HPO:

32
angioma, tufted:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 607859
Orphanet 59 ORPHA1063
MESH via Orphanet 45 C536924
UMLS via Orphanet 74 C0346073
ICD10 via Orphanet 34 D18.0
MedGen 42 C0346073
UMLS 73 C0346073

Summaries for Angioma, Tufted

OMIM : 57 Tufted angioma is a rare benign vascular lesion that predominantly affects children under 5 years of age but may occur in adulthood. Some cases of tufted angioma have been reported in the mother during pregnancy, whereas in other cases the tufted angioma may be congenital. The lesions occur predominantly on the neck, shoulders, and trunk and appear histologically in a 'cannonball' distribution of rounded nodules or tufts of capillary-sized vessels in the dermis, with lymphatic vessels present at the periphery. The natural history is slow progressive growth, after which it tends to remain stable in size. Regression has been reported in some cases. Tufted angioma should be distinguished from kaposiform hemangioendothelioma (KHE). Multiple tufted angioma and KHE may be associated with Kasabach-Merritt syndrome (141000), which is characterized by severe thrombocytopenia and consumption of coagulation factors (summary by Tille et al., 2003). (607859)

MalaCards based summary : Angioma, Tufted, also known as tufted angioma, is related to hemangioma-thrombocytopenia syndrome and hemangioendothelioma. An important gene associated with Angioma, Tufted is GNA14 (G Protein Subunit Alpha 14), and among its related pathways/superpathways are TGF-Beta Pathway and Response to elevated platelet cytosolic Ca2+. The drugs Vincristine and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, endothelial and liver, and related phenotypes are abnormality of skin pigmentation and vascular skin abnormality

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1063Disease definitionTufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.Visit the Orphanet disease page for more resources.

Wikipedia : 76 A tufted angioma (also known as an \"Acquired tufted angioma,\" \"Angioblastoma,\" \"Angioblastoma of... more...

Related Diseases for Angioma, Tufted

Diseases related to Angioma, Tufted via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 hemangioma-thrombocytopenia syndrome 11.5
2 hemangioendothelioma 10.4
3 kaposiform hemangioendothelioma 10.4
4 hemangioma 10.1
5 sarcoma 10.0
6 capillary hemangioma 10.0
7 pyogenic granuloma 10.0
8 neurofibromatosis, type i 9.9
9 paine syndrome 9.9
10 angiosarcoma 9.9
11 arteriovenous malformation 9.9
12 myofascial pain syndrome 9.9
13 cavernous hemangioma 9.9
14 herpes zoster 9.9
15 type i 9.9
16 fibromyalgia 9.9
17 endotheliitis 9.9

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



Diseases related to Angioma, Tufted

Symptoms & Phenotypes for Angioma, Tufted

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
vascular abnormalities restricted to skin

Skin Nails Hair Skin:
exophytic, red lesion
usually present on skin of neck, shoulders, or trunk
frequent bleeding may occur with trauma
histology shows 'cannonball' distribution of capillary-sized vessels in the dermis
vessels may form rounded nodules ('tufts')
more

Clinical features from OMIM:

607859

Human phenotypes related to Angioma, Tufted:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of skin pigmentation 32 HP:0001000
2 vascular skin abnormality 32 HP:0011276
3 tufted angioma 32 HP:0012329

GenomeRNAi Phenotypes related to Angioma, Tufted according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.4 GNA14 IFNA2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.4 IFNA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.4 GNA14
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.4 IFNA2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.4 GNA14
6 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.4 IFNA2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.4 GNA14
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.4 GNA14
9 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.4 IFNA2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.4 IFNA2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.4 GNA14

Drugs & Therapeutics for Angioma, Tufted

Drugs for Angioma, Tufted (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# 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, Investigational 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 Antibiotics, Antitubercular Phase 2
9 Immunosuppressive Agents Phase 2
10 Anti-Infective Agents Phase 2
11 Antifungal Agents Phase 2
12 Antimitotic Agents Phase 2
13 Antineoplastic Agents, Phytogenic Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study to Compare Vincristine to Sirolimus for Treatment of High Risk Vascular Tumors Recruiting NCT02110069 Phase 2 Vincristine;Sirolimus
2 Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies Active, not recruiting NCT00975819 Phase 2 sirolimus
3 Lymphatic Anomalies Registry Recruiting NCT02399527

Search NIH Clinical Center for Angioma, Tufted

Genetic Tests for Angioma, Tufted

Anatomical Context for Angioma, Tufted

MalaCards organs/tissues related to Angioma, Tufted:

41
Skin, Endothelial, Liver

Publications for Angioma, Tufted

Articles related to Angioma, Tufted:

(show top 50) (show all 105)
# Title Authors Year
1
Vascular Tumors in Infants: Case Report and Review of Clinical, Histopathologic, and Immunohistochemical Characteristics of Infantile Hemangioma, Pyogenic Granuloma, Noninvoluting Congenital Hemangioma, Tufted Angioma, and Kaposiform Hemangioendothelioma. ( 29561329 )
2018
2
Treatment of kaposiform hemangioendothelioma and tufted angioma. ( 27252149 )
2016
3
The clinical spectrum of kaposiform hemangioendothelioma and tufted angioma. ( 27607323 )
2016
4
Port-Wine Stain-Like Presentation of a Tufted Angioma on the Face. ( 27001335 )
2016
5
An intermediate vascular tumour between kaposiform hemangioendothelioma and tufted angioma with regression of the skin lesion. ( 27882874 )
2016
6
Clinical Outcomes for Systemic Corticosteroids Versus Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma. ( 27196448 )
2016
7
Tufted angioma. ( 26955593 )
2016
8
A tufted angioma. ( 26225332 )
2015
9
A case of acquired tufted angioma in adulthood. ( 26312663 )
2015
10
Tufted angioma of the maxilla: a rare case with unique clinical presentation. ( 26896438 )
2015
11
Multifocal Annular Tufted Angioma: An Uncommon Clinical Entity. ( 26288441 )
2015
12
Adult-Onset Tufted Angiomas Associated With an Arteriovenous Malformation in a Renal Transplant Recipient: Case Report and Review of the Literature. ( 25365496 )
2014
13
Late-onset tufted angioma with remarkable response to pulse dye laser. ( 25484438 )
2014
14
Variable response to propranolol treatment of kaposiform hemangioendothelioma, tufted angioma, and Kasabach-Merritt phenomenon. ( 24482015 )
2014
15
Tufted angioma in children: report of two cases and a review of the literature. ( 25436158 )
2014
16
Tufted angioma with Kasabach-Merritt syndrome mistaken for child abuse. ( 25459275 )
2014
17
Kasabach-Merritt phenomenon in an adult man with a tufted angioma and cirrhosis responding to radiation, bevacizumab, and prednisone. ( 24697614 )
2014
18
Successful treatment of tufted angioma with propranolol. ( 25388632 )
2014
19
Tufted angioma of the face. ( 23706996 )
2013
20
Tufted angioma (Angioblastoma) of eyelid in adults-report of two cases. ( 24044498 )
2013
21
Resection of a huge tufted angioma of orbit and orbitocranial mesh reconstruction. ( 23700166 )
2013
22
Tufted angioma arising at a site of BCG vaccination. ( 23238237 )
2013
23
Congenital disseminated tufted angioma. ( 23373432 )
2013
24
Acquired tufted angioma in pregnancy showing expression of estrogen and progesterone receptors. ( 24185824 )
2013
25
Acquired capillary hemangioma with features of tufted angioma in the external auditory canal. ( 23714987 )
2013
26
An acquired tufted angioma of the nasal cavity. ( 23518006 )
2013
27
Intractable tufted angioma associated with kasabach-merritt syndrome. ( 23463840 )
2013
28
Tufted angioma in ear auricle: importance of the differential diagnosis. ( 24346895 )
2013
29
Acquired tufted angioma of upper lip: case report and review of the literature. ( 23526035 )
2013
30
Dilated lymphatic vessels in tufted angioma: a potential source of diagnostic confusion. ( 22307233 )
2012
31
Variable response to propranolol treatment of kaposiform hemangioendothelioma, tufted angioma, and Kasabach-Merritt phenomenon. ( 22648868 )
2012
32
A case of tufted angioma accompanied by localized hyperhidrosis. ( 22117014 )
2012
33
Tufted angioma and myofascial pain syndrome. ( 21437533 )
2011
34
Giant tufted angioma successfully treated with radiation. ( 21998838 )
2011
35
'Mini' free groin flap for treatment of a tufted angioma of the finger. ( 21277269 )
2011
36
Tufted angioma associated with Kasabach-Merritt phenomenon: a therapeutic challenge. ( 20814640 )
2010
37
Congenital tufted angioma: Case report and review of the literature. ( 20492819 )
2010
38
Tufted angioma presented with segmental hyperpigmented plaque in a young Chinese woman. ( 20175859 )
2010
39
Kasabach-merritt syndrome arising from tufted angioma successfully treated with systemic corticosteroid. ( 21165213 )
2010
40
Successful treatment of kaposiform hemangioendothelioma and tufted angioma with vincristine. ( 20523249 )
2010
41
Expression of prox1, lymphatic endothelial nuclear transcription factor, in Kaposiform hemangioendothelioma and tufted angioma. ( 20975337 )
2010
42
Extensive tufted angioma of the left arm in a 47-year-old woman. ( 19323667 )
2009
43
Annular tufted angioma: a rare entity. ( 19538371 )
2009
44
Congenital giant tufted angioma. ( 19915265 )
2009
45
Congenital tufted angioma with persistent low-grade coagulopathy. ( 19778314 )
2009
46
Tufted angioma. ( 19061619 )
2008
47
Tufted angioma-associated Kasabach-Merritt syndrome treated with embolization and vincristine. ( 18301012 )
2008
48
An erythematous patch and plaque on the shoulder--quiz case. Acquired tufted angioma (TA). ( 18794471 )
2008
49
Tufted angioma-associated Kasabach-Merritt syndrome treated with embolization and vincristine. ( 17496631 )
2007
50
Treatment of a tufted angioma with intense pulsed light. ( 17520468 )
2007

Variations for Angioma, Tufted

Expression for Angioma, Tufted

Search GEO for disease gene expression data for Angioma, Tufted.

Pathways for Angioma, Tufted

GO Terms for Angioma, Tufted

Sources for Angioma, Tufted

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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