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 58 56
Tufted Angioma 58 77 54 60
Nakagawa Angioblastoma 60
Tufted Angioma of Skin 74
Angioma Tufted 54

Characteristics:

Orphanet epidemiological data:

60
tufted angioma
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
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:

33
angioma, tufted:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 607859
MESH via Orphanet 46 C536924
ICD10 via Orphanet 35 D18.0
UMLS via Orphanet 75 C0346073
Orphanet 60 ORPHA1063
MedGen 43 C0346073
UMLS 74 C0346073

Summaries for Angioma, Tufted

OMIM : 58 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 Sirolimus and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and endothelial, and related phenotypes are hyperhidrosis and vascular skin abnormality

NIH Rare Diseases : 54 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 : 77 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 21)
# Related Disease Score Top Affiliating Genes
1 hemangioma-thrombocytopenia syndrome 11.7
2 hemangioendothelioma 10.6
3 kaposiform hemangioendothelioma 10.6
4 hemangioma 10.4
5 capillary hemangioma 10.3
6 pyogenic granuloma 10.3
7 sarcoma 10.2
8 herpes zoster 10.2
9 neurofibromatosis, type i 10.1
10 neurofibromatosis, type iv, of riccardi 10.1
11 hepatitis 10.1
12 hepatitis b 10.1
13 angiosarcoma 10.1
14 multicentric castleman disease 10.1
15 castleman disease 10.1
16 arteriovenous malformation 10.1
17 poems syndrome 10.1
18 myofascial pain syndrome 10.1
19 cavernous hemangioma 10.1
20 human immunodeficiency virus infectious disease 10.1
21 tafro syndrome 10.1

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



Diseases related to Angioma, Tufted

Symptoms & Phenotypes for Angioma, Tufted

Human phenotypes related to Angioma, Tufted:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 60 Frequent (79-30%)
2 vascular skin abnormality 33 HP:0011276
3 anemia 60 Frequent (79-30%)
4 thrombocytopenia 60 Occasional (29-5%)
5 paresthesia 60 Occasional (29-5%)
6 pain 60 Occasional (29-5%)
7 purpura 60 Occasional (29-5%)
8 neoplasm of the skin 60 Occasional (29-5%)
9 petechiae 60 Occasional (29-5%)
10 abnormality of skin pigmentation 33 HP:0001000
11 facial hemangioma 60 Occasional (29-5%)
12 esotropia 60 Occasional (29-5%)
13 localized skin lesion 60 Frequent (79-30%)
14 hypofibrinogenemia 60 Occasional (29-5%)
15 hypertrichosis 60 Occasional (29-5%)
16 megakaryocytopenia 60 Occasional (29-5%)
17 abnormality of the common coagulation pathway 60 Occasional (29-5%)
18 hemangioma of the lip 60 Occasional (29-5%)
19 tufted angioma 33 HP:0012329

Symptoms via clinical synopsis from OMIM:

58
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

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

27 (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
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 5284616 6436030
2
tannic acid Approved Phase 2 1401-55-4
3
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
5
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
6
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
7 Antimitotic Agents Phase 2
8 Immunosuppressive Agents Phase 2
9 Immunologic Factors Phase 2
10 Antibiotics, Antitubercular Phase 2
11 Anti-Infective Agents Phase 2
12 Anti-Bacterial Agents Phase 2
13 Antifungal Agents Phase 2
14 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:

42
Skin, Liver, Endothelial

Publications for Angioma, Tufted

Articles related to Angioma, Tufted:

(show top 50) (show all 129)
# Title Authors Year
1
Surgical excision of a tufted angioma of the hand in an adult-a rare case report with a review of literature. ( 31020274 )
2019
2
Indurated Dusky Red Swelling on the Forearm of an Infant: Tufted Angioma. ( 30983612 )
2019
3
Low dose sirolimus treatment for refractory tufted angioma and congenital kaposiform hemangioendothelioma, both with Kasabach-Merritt phenomenon. ( 31087627 )
2019
4
Tufted angioma-like lesion associated with VEGF and IL-6 in TAFRO syndrome: Is it a common histological feature of multicentric Castleman disease/POEMS syndrome? ( 30632181 )
2019
5
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
6
Sirolimus as initial therapy for kaposiform hemangioendothelioma and tufted angioma. ( 29999213 )
2018
7
A Case Report on Acquired Tufted Angioma with Severe Pain after Healed Herpes Zoster. ( 30246733 )
2018
8
Congenital tufted angioma: A multicenter retrospective study of 30 cases. ( 30318642 )
2018
9
Retrospective study on the outcomes of infantile tufted angioma complicated by Kasabach-Merritt Phenomenon. ( 30096317 )
2018
10
Acral nodule as a form of atypical presentation of a tufted angioma in adulthood. ( 29869435 )
2018
11
Tufted angioma of the finger: A case of an uncommon location with unique dermoscopic features. ( 29512185 )
2018
12
Topical Rapamycin: An Additional Therapeutic Option for Tufted Angioma in Adults. ( 28811001 )
2018
13
Intracranial intraaxial cerebral tufted angioma: case report. ( 28298028 )
2018
14
Tufted angioma with recurrent Kasabach-Merritt phenomenon. ( 27852998 )
2018
15
Tufted angioma arising at the site of hepatitis B vaccination: A case report. ( 30325126 )
2018
16
Comparison of Corticosteroid and Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma: A Systematic Review and Meta-Analysis. ( 30372769 )
2018
17
Tufted angioma. ( 29166525 )
2017
18
Successful treatment of tufted angioma with low-dose electron beam radiation therapy: Report of two cases. ( 28623854 )
2017
19
Cytotoxic-mediated spontaneous regression of eruptive tufted angioma in a teenage girl. ( 28573717 )
2017
20
Tufted angioma associated with hyperplasia of eccrine sweat glands. ( 28543192 )
2017
21
Sirolimus therapy for children with problematic kaposiform haemangioendothelioma and tufted angioma. ( 28485019 )
2017
22
Efficiency of an mTOR Inhibitor in Kasabach-Merritt Phenomenon with Indolent Tufted Angioma: A Case Report. ( 27958609 )
2017
23
Multimodal treatment of Kasabach-Merritt syndrome arising from tufted angioma: A case report. ( 28599491 )
2017
24
An intermediate vascular tumour between kaposiform hemangioendothelioma and tufted angioma with regression of the skin lesion. ( 27882874 )
2017
25
The clinical spectrum of kaposiform hemangioendothelioma and tufted angioma. ( 27607323 )
2016
26
Tufted Angioma of Eyelid in an Adult - A Case Report. ( 27504301 )
2016
27
Port-Wine Stain-Like Presentation of a Tufted Angioma on the Face. ( 27001335 )
2016
28
Tufted angioma. ( 26955593 )
2016
29
Tufted angioma of the maxilla: a rare case with unique clinical presentation. ( 26896438 )
2016
30
Treatment of kaposiform hemangioendothelioma and tufted angioma. ( 27252149 )
2016
31
Clinical Outcomes for Systemic Corticosteroids Versus Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma. ( 27196448 )
2016
32
A case of acquired tufted angioma in adulthood. ( 26312663 )
2015
33
Multifocal Annular Tufted Angioma: An Uncommon Clinical Entity. ( 26288441 )
2015
34
A tufted angioma. ( 26225332 )
2015
35
[Tufted angioma of the face]. ( 23706996 )
2014
36
Late-onset tufted angioma with remarkable response to pulse dye laser. ( 25484438 )
2014
37
Tufted angioma in children: report of two cases and a review of the literature. ( 25436158 )
2014
38
Successful treatment of tufted angioma with propranolol. ( 25388632 )
2014
39
Kasabach-Merritt phenomenon in an adult man with a tufted angioma and cirrhosis responding to radiation, bevacizumab, and prednisone. ( 24697614 )
2014
40
Tufted angioma with Kasabach-Merritt syndrome mistaken for child abuse. ( 25459275 )
2014
41
Variable response to propranolol treatment of kaposiform hemangioendothelioma, tufted angioma, and Kasabach-Merritt phenomenon. ( 24482015 )
2014
42
Tufted angioma arising at a site of BCG vaccination. ( 23238237 )
2013
43
Congenital disseminated tufted angioma. ( 23373432 )
2013
44
An acquired tufted angioma of the nasal cavity. ( 23518006 )
2013
45
Acquired tufted angioma of upper lip: case report and review of the literature. ( 23526035 )
2013
46
Resection of a huge tufted angioma of orbit and orbitocranial mesh reconstruction. ( 23700166 )
2013
47
Tufted angioma (Angioblastoma) of eyelid in adults-report of two cases. ( 24044498 )
2013
48
Acquired tufted angioma in pregnancy showing expression of estrogen and progesterone receptors. ( 24185824 )
2013
49
Tufted angioma in ear auricle: importance of the differential diagnosis. ( 24346895 )
2013
50
Intractable tufted angioma associated with kasabach-merritt syndrome. ( 23463840 )
2013

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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