MCID: ANG065
MIFTS: 36

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 54
Tufted Angioma 57 73 20 58
Nakagawa Angioblastoma 58
Tufted Angioma of Skin 70
Angioma Tufted 20

Characteristics:

Orphanet epidemiological data:

58
tufted angioma
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
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:

31
angioma, tufted:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 607859
MESH via Orphanet 45 C536924
ICD10 via Orphanet 33 D18.0
UMLS via Orphanet 71 C0346073
Orphanet 58 ORPHA1063
MedGen 41 C0346073
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Angioma, Tufted, also known as tufted angioma, is related to hemangioma 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 Tacrolimus and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, endothelial and liver, and related phenotypes are hyperhidrosis and anemia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1063 Definition A very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.

Wikipedia : 73 A tufted angioma (also known as an "Acquired tufted angioma," "Angioblastoma," "Angioblastoma of... more...

Related Diseases for Angioma, Tufted

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:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
2 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
3 localized skin lesion 58 31 frequent (33%) Frequent (79-30%) HP:0011355
4 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
5 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
6 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
7 petechiae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000967
8 facial hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000329
9 esotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000565
10 hypertrichosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000998
11 pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012531
12 hypofibrinogenemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011900
13 megakaryocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005548
14 hemangioma of the lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0031490
15 vascular skin abnormality 31 HP:0011276
16 purpura 58 Occasional (29-5%)
17 abnormality of skin pigmentation 31 HP:0001000
18 tufted angioma 31 HP:0012329
19 abnormality of the common coagulation pathway 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.02 GNA14
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 9.02 IFNA2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.02 IFNA2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-44 9.02 GNA14
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.02 GNA14

Drugs & Therapeutics for Angioma, Tufted

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
2 Immunosuppressive Agents Phase 4
3 Immunologic Factors Phase 4
4 Calcineurin Inhibitors Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tacrolimus for the Treatment of Superficial Kaposiform Hemangioendothelioma and Tufted Angioma: a Single Arm Prospective Study Recruiting NCT04056962 Phase 4 Tacrolimus ointment

Search NIH Clinical Center for Angioma, Tufted

Genetic Tests for Angioma, Tufted

Anatomical Context for Angioma, Tufted

MalaCards organs/tissues related to Angioma, Tufted:

40
Skin, Endothelial, Liver, Heart, Tongue

Publications for Angioma, Tufted

Articles related to Angioma, Tufted:

(show top 50) (show all 221)
# Title Authors PMID Year
1
Familial predisposition to tufted angioma: identification of blood and lymphatic vascular components. 57 61
12752572 2003
2
Familial tufted angioma. 57 61
1458641 1992
3
Partial response to treatment with recombinant interferon-alpha2a in an adult patient with tufted angioma. 54 61
14678556 2004
4
The role of topical timolol in wound healing and the treatment of vascular lesions: A narrative review. 61
33538017 2021
5
Vascular Anomalies of the Head and Neck: A Pediatric Overview. 61
33723757 2021
6
Case of tufted angioma treated successfully with tranilast, topical steroids and tacrolimus ointment. 61
33200419 2021
7
Comparison of efficacy and safety of corticosteroid and vincristine in treating kaposiform hemangioendothelioma and tufted angioma: A multicenter prospective randomized controlled clinical trial. 61
33608936 2021
8
Severe adverse events during sirolimus "off-label" therapy for vascular anomalies. 61
33580918 2021
9
Topical tacrolimus reduces the severe pain of tufted angioma: Case report. 61
33063910 2020
10
Kasabach-Merritt-like phenomenon in a massive uterine leiomyoma presenting with chronic disseminated intravascular coagulation: A case report. 61
33134091 2020
11
Kasabach-Merritt phenomenon with cellulitis in infant. 61
32933906 2020
12
Tufted angioma with Kasabach-Merritt syndrome: Two cases successfully treated with everolimus. 61
32275095 2020
13
Kaposiform hemangioendothelioma and tufted angioma - (epi)genetic analysis including genome-wide methylation profiling. 61
31887709 2020
14
Oral itraconazole for the treatment of giant tufted angioma with hair loss arising during pregnancy: A case report. 61
31729054 2020
15
What is new in endothelial neoplasia? 61
31463731 2020
16
Immunohistochemical Analysis of mTOR Pathway-Related Proteins in Kaposiform Hemangioendothelioma. 61
31896113 2020
17
A retrospective study: Clinicopathological and immunohistochemical analysis of 54 cases of tufted angioma. 61
31397400 2020
18
Tufted angioma with associated Kasabach-Merritt phenomenon caused by somatic mutation in GNA14. 61
31423605 2019
19
Topical timolol maleate for treatment of tufted angioma. 61
31245858 2019
20
Ultrasonography and magnetic resonance imaging features of kaposiform hemangioendothelioma and tufted angioma. 61
31373042 2019
21
Tacrolimus ointment for the treatment of superficial kaposiform hemangioendothelioma and tufted angioma. 61
31373046 2019
22
Comparison of Corticosteroid and Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma: A Systematic Review and Meta-Analysis. 61
30372769 2019
23
Tufted angioma presenting with subclinical coagulopathy. 61
31738844 2019
24
Low dose sirolimus treatment for refractory tufted angioma and congenital kaposiform hemangioendothelioma, both with Kasabach-Merritt phenomenon. 61
31087627 2019
25
Tufted-angioma-like lesion associated with vascular endothelial growth factor and interleukin-6 in TAFRO syndrome: Is it a common histological feature of multicentric Castleman disease/POEMS syndrome? 61
30632181 2019
26
Pediatric facial kaposiform hemangioendothelioma: a case report and review of the literature. 61
31044058 2019
27
Indurated Dusky Red Swelling on the Forearm of an Infant: Tufted Angioma. 61
30983612 2019
28
Surgical excision of a tufted angioma of the hand in an adult-a rare case report with a review of literature. 61
31020274 2019
29
Retrospective study on the outcomes of infantile tufted angioma complicated by Kasabach-Merritt Phenomenon. 61
30096317 2018
30
Congenital tufted angioma: A multicenter retrospective study of 30 cases. 61
30318642 2018
31
A Case Report on Acquired Tufted Angioma with Severe Pain after Healed Herpes Zoster. 61
30246733 2018
32
Development of Kasabach-Merritt phenomenon following vaccination: More than a coincidence? 61
30118141 2018
33
Sirolimus as initial therapy for kaposiform hemangioendothelioma and tufted angioma. 61
29999213 2018
34
Topical rapamycin (sirolimus) for the treatment of uncomplicated tufted angiomas in two children and review of the literature. 61
30015406 2018
35
Frequent GNAQ and GNA14 Mutations in Hepatic Small Vessel Neoplasm. 61
29975248 2018
36
Acral nodule as a form of atypical presentation of a tufted angioma in adulthood. 61
29869435 2018
37
Tufted angioma of the finger: A case of an uncommon location with unique dermoscopic features. 61
29512185 2018
38
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. 61
29561329 2018
39
Topical Rapamycin: An Additional Therapeutic Option for Tufted Angioma in Adults. 61
28811001 2018
40
Intracranial intraaxial cerebral tufted angioma: case report. 61
28298028 2018
41
Tufted angioma with recurrent Kasabach-Merritt phenomenon. 61
27852998 2018
42
Immunoreactivity of Wilms tumor 1 (WT1) as an additional evidence supporting hemangiomatous rather than inflammatory origin in the etiopathogenesis of angiolymphoid hyperplasia with eosinophilia. 61
29445571 2018
43
Tufted angioma arising at the site of hepatitis B vaccination: A case report. 61
30325126 2018
44
Episode of Kasabach-Merritt phenomenon following Japanese encephalitis vaccination: Case report. 61
29050802 2017
45
Sirolimus therapy for children with problematic kaposiform haemangioendothelioma and tufted angioma. 61
28485019 2017
46
Cytotoxic-mediated spontaneous regression of eruptive tufted angioma in a teenage girl. 61
28573717 2017
47
Successful treatment of tufted angioma with low-dose electron beam radiation therapy: Report of two cases. 61
28623854 2017
48
Tufted angioma. 61
29166525 2017
49
Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 1: classification, sonographic approach and vascular tumors. 61
28779195 2017
50
Efficiency of an mTOR Inhibitor in Kasabach-Merritt Phenomenon with Indolent Tufted Angioma: A Case Report. 61
27958609 2017

Variations for Angioma, Tufted

Expression for Angioma, Tufted

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

Pathways for Angioma, Tufted

Pathways related to Angioma, Tufted according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.03 IFNA2 GNA14
2
Show member pathways
11.62 IFNA2 GNA14

GO Terms for Angioma, Tufted

Sources for Angioma, Tufted

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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