MCID: ANG065
MIFTS: 39

Angioma, Tufted

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


HPO:

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


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 Response to elevated platelet cytosolic Ca2+ and Toll-like Receptor Signaling Pathway. The drugs Vincristine and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and endothelial, and related phenotypes are vascular skin abnormality and abnormality of skin pigmentation

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 16)
# Related Disease Score Top Affiliating Genes
1 hemangioma-thrombocytopenia syndrome 11.7
2 hemangioendothelioma 10.6
3 kaposiform hemangioendothelioma 10.6
4 hemangioma 10.3
5 sarcoma 10.2
6 capillary hemangioma 10.2
7 herpes zoster 10.2
8 pyogenic granuloma 10.2
9 neurofibromatosis, type i 10.0
10 hepatitis 10.0
11 hepatitis b 10.0
12 angiosarcoma 10.0
13 arteriovenous malformation 10.0
14 myofascial pain syndrome 10.0
15 cavernous hemangioma 10.0
16 human immunodeficiency virus infectious disease 10.0

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 vascular skin abnormality 32 HP:0011276
2 abnormality of skin pigmentation 32 HP:0001000
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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
2
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
4
Everolimus Approved Phase 2 159351-69-6 6442177
5
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
6 tannic acid Approved Phase 2
7 Anti-Infective Agents Phase 2
8 Antineoplastic Agents, Phytogenic Phase 2
9 Immunosuppressive Agents Phase 2
10 Antibiotics, Antitubercular Phase 2
11 Antifungal Agents Phase 2
12 Antimitotic Agents Phase 2
13 Immunologic Factors Phase 2
14 Anti-Bacterial Agents 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, Liver, Endothelial

Publications for Angioma, Tufted

Articles related to Angioma, Tufted:

(show top 50) (show all 124)
# 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
Comparison of Corticosteroid and Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma: A Systematic Review and Meta-Analysis. ( 30372769 )
2018
3
Sirolimus as initial therapy for kaposiform hemangioendothelioma and tufted angioma. ( 29999213 )
2018
4
Tufted angioma arising at the site of hepatitis B vaccination: A case report. ( 30325126 )
2018
5
A Case Report on Acquired Tufted Angioma with Severe Pain after Healed Herpes Zoster. ( 30246733 )
2018
6
Tufted angioma with recurrent Kasabach-Merritt phenomenon. ( 27852998 )
2018
7
Intracranial intraaxial cerebral tufted angioma: case report. ( 28298028 )
2018
8
Topical Rapamycin: An Additional Therapeutic Option for Tufted Angioma in Adults. ( 28811001 )
2018
9
Tufted angioma of the finger: A case of an uncommon location with unique dermoscopic features. ( 29512185 )
2018
10
Acral nodule as a form of atypical presentation of a tufted angioma in adulthood. ( 29869435 )
2018
11
Retrospective study on the outcomes of infantile tufted angioma complicated by Kasabach-Merritt Phenomenon. ( 30096317 )
2018
12
Congenital tufted angioma: A multicenter retrospective study of 30 cases. ( 30318642 )
2018
13
Multimodal treatment of Kasabach-Merritt syndrome arising from tufted angioma: A case report. ( 28599491 )
2017
14
Efficiency of an mTOR Inhibitor in Kasabach-Merritt Phenomenon with Indolent Tufted Angioma: A Case Report. ( 27958609 )
2017
15
Sirolimus therapy for children with problematic kaposiform haemangioendothelioma and tufted angioma. ( 28485019 )
2017
16
Tufted angioma associated with hyperplasia of eccrine sweat glands. ( 28543192 )
2017
17
Cytotoxic-mediated spontaneous regression of eruptive tufted angioma in a teenage girl. ( 28573717 )
2017
18
Successful treatment of tufted angioma with low-dose electron beam radiation therapy: Report of two cases. ( 28623854 )
2017
19
Tufted angioma. ( 29166525 )
2017
20
Treatment of kaposiform hemangioendothelioma and tufted angioma. ( 27252149 )
2016
21
The clinical spectrum of kaposiform hemangioendothelioma and tufted angioma. ( 27607323 )
2016
22
Port-Wine Stain-Like Presentation of a Tufted Angioma on the Face. ( 27001335 )
2016
23
An intermediate vascular tumour between kaposiform hemangioendothelioma and tufted angioma with regression of the skin lesion. ( 27882874 )
2016
24
Clinical Outcomes for Systemic Corticosteroids Versus Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma. ( 27196448 )
2016
25
Tufted angioma. ( 26955593 )
2016
26
Tufted Angioma of Eyelid in an Adult - A Case Report. ( 27504301 )
2016
27
A tufted angioma. ( 26225332 )
2015
28
A case of acquired tufted angioma in adulthood. ( 26312663 )
2015
29
Tufted angioma of the maxilla: a rare case with unique clinical presentation. ( 26896438 )
2015
30
Multifocal Annular Tufted Angioma: An Uncommon Clinical Entity. ( 26288441 )
2015
31
Late-onset tufted angioma with remarkable response to pulse dye laser. ( 25484438 )
2014
32
Variable response to propranolol treatment of kaposiform hemangioendothelioma, tufted angioma, and Kasabach-Merritt phenomenon. ( 24482015 )
2014
33
Tufted angioma in children: report of two cases and a review of the literature. ( 25436158 )
2014
34
Tufted angioma with Kasabach-Merritt syndrome mistaken for child abuse. ( 25459275 )
2014
35
Kasabach-Merritt phenomenon in an adult man with a tufted angioma and cirrhosis responding to radiation, bevacizumab, and prednisone. ( 24697614 )
2014
36
Successful treatment of tufted angioma with propranolol. ( 25388632 )
2014
37
Tufted angioma of the face. ( 23706996 )
2013
38
Tufted angioma (Angioblastoma) of eyelid in adults-report of two cases. ( 24044498 )
2013
39
Resection of a huge tufted angioma of orbit and orbitocranial mesh reconstruction. ( 23700166 )
2013
40
Tufted angioma arising at a site of BCG vaccination. ( 23238237 )
2013
41
Congenital disseminated tufted angioma. ( 23373432 )
2013
42
Acquired tufted angioma in pregnancy showing expression of estrogen and progesterone receptors. ( 24185824 )
2013
43
Acquired capillary hemangioma with features of tufted angioma in the external auditory canal. ( 23714987 )
2013
44
An acquired tufted angioma of the nasal cavity. ( 23518006 )
2013
45
Intractable tufted angioma associated with kasabach-merritt syndrome. ( 23463840 )
2013
46
Acquired tufted angioma of upper lip: case report and review of the literature. ( 23526035 )
2013
47
Tufted angioma in ear auricle: importance of the differential diagnosis. ( 24346895 )
2013
48
Dilated lymphatic vessels in tufted angioma: a potential source of diagnostic confusion. ( 22307233 )
2012
49
Variable response to propranolol treatment of kaposiform hemangioendothelioma, tufted angioma, and Kasabach-Merritt phenomenon. ( 22648868 )
2012
50
A case of tufted angioma accompanied by localized hyperhidrosis. ( 22117014 )
2012

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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