MCID: ANG007
MIFTS: 33

Angiokeratoma Circumscriptum

Categories: Cancer diseases, Skin diseases
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Aliases & Classifications for Angiokeratoma Circumscriptum

MalaCards integrated aliases for Angiokeratoma Circumscriptum:

Name: Angiokeratoma Circumscriptum 11 14 71

Classifications:



External Ids:

Disease Ontology 11 DOID:5949
NCIt 49 C7751
SNOMED-CT 68 21848000
UMLS 71 C0263638

Summaries for Angiokeratoma Circumscriptum

MalaCards based summary: Angiokeratoma Circumscriptum is related to angiokeratoma and capillary lymphangioma. An important gene associated with Angiokeratoma Circumscriptum is SYNGAP1 (Synaptic Ras GTPase Activating Protein 1), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include skin, tongue and breast, and related phenotypes are nervous system and homeostasis/metabolism

Related Diseases for Angiokeratoma Circumscriptum

Diseases related to Angiokeratoma Circumscriptum via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 211)
# Related Disease Score Top Affiliating Genes
1 angiokeratoma 31.2 WT1 SLC2A1 GLA
2 capillary lymphangioma 30.1 SYNGAP1 RASA1 PECAM1 CD34 AGGF1
3 lymphangioma 29.9 VEGFA PECAM1 KDR CD34
4 angiokeratoma of mibelli 29.8 MMP9 KDR GLA FLT1
5 klippel-trenaunay-weber syndrome 29.6 VEGFA TEK SYNGAP1 RASA1 PECAM1 AGGF1
6 angiokeratoma of fordyce 29.4 WT1 PECAM1 MMP9 GLA FLT1
7 hemangioma 28.6 VEGFA TEK SLC2A1 PECAM1 MMP9 KDR
8 arteriovenous malformation 28.6 VEGFA TEK SYNGAP1 SLC2A1 RASA1 PECAM1
9 capillary hemangioma 28.3 VEGFA TEK SYNGAP1 SLC2A1 RASA1 PECAM1
10 fabry disease 10.4
11 verrucous hemangioma 10.4
12 hemangioma of intra-abdominal structure 10.3 SYNGAP1 RASA1
13 taylor's syndrome 10.3 SYNGAP1 RASA1
14 lymphatic malformation 12 10.3 SYNGAP1 RASA1
15 epilepsy with myoclonic-atonic seizures 10.3 SYNGAP1 SLC2A1
16 perivascular tumor 10.2 PECAM1 CD34
17 angiolipoma 10.2 PECAM1 CD34
18 skin epithelioid hemangioma 10.2 PECAM1 CD34
19 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.2
20 muscle hypertrophy 10.2
21 melanoma 10.2
22 papilloma 10.2
23 rare lymphatic malformation 10.2
24 pacinian tumor 10.2 SLC2A1 CD34
25 aorta angiosarcoma 10.2 PECAM1 CD34
26 central nervous system angiosarcoma 10.2 PECAM1 CD34
27 intravascular angioleiomyoma 10.2 PECAM1 CD34
28 angiomatous meningioma 10.2 CD34 AGGF1
29 metatypical basal cell carcinoma 10.2 CD34 AGGF1
30 rapidly involuting congenital hemangioma 10.2 SLC2A1 PECAM1
31 heart fibrosarcoma 10.2 PECAM1 CD34
32 thyroid angiosarcoma 10.2 PECAM1 CD34
33 glomangiomatosis 10.2 PECAM1 CD34
34 gallbladder leiomyosarcoma 10.2 PECAM1 CD34
35 venous hemangioma 10.2 PECAM1 CD34
36 intracranial structure hemangioma 10.2 SYNGAP1 RASA1
37 ovarian angiosarcoma 10.2 PECAM1 CD34
38 conventional angiosarcoma 10.2 PECAM1 CD34
39 kidney hemangiopericytoma 10.2 PECAM1 CD34
40 intracranial cavernous angioma 10.2 SYNGAP1 RASA1
41 glomangiomyoma 10.2 PECAM1 CD34
42 angiomyoma 10.2 PECAM1 CD34
43 glomangiosarcoma 10.2 PECAM1 CD34
44 breast hemangioma 10.2 PECAM1 CD34
45 thyroid sarcoma 10.2 PECAM1 CD34
46 liposarcoma of bone 10.2 PECAM1 CD34
47 hemangioma of spleen 10.2 PECAM1 CD34
48 meninges hemangiopericytoma 10.2 PECAM1 CD34
49 colonic lymphangioma 10.2 PECAM1 CD34
50 epithelioid hemangioendothelioma 10.2 PECAM1 CD34

Graphical network of the top 20 diseases related to Angiokeratoma Circumscriptum:



Diseases related to Angiokeratoma Circumscriptum

Symptoms & Phenotypes for Angiokeratoma Circumscriptum

MGI Mouse Phenotypes related to Angiokeratoma Circumscriptum:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.22 AGGF1 ANGPT1 FLT1 GLA KDR MMP9
2 homeostasis/metabolism MP:0005376 10.17 ANGPT1 CD34 FLT1 GLA KDR MMP9
3 muscle MP:0005369 10.16 ANGPT1 FLT1 GLA KDR MMP9 PECAM1
4 growth/size/body region MP:0005378 10.14 ANGPT1 FLT1 GLA KDR MMP9 RASA1
5 cellular MP:0005384 10.1 AGGF1 CD34 FLT1 GLA KDR MMP9
6 embryo MP:0005380 10.02 AGGF1 ANGPT1 FLT1 KDR RASA1 SLC2A1
7 cardiovascular system MP:0005385 10 AGGF1 ANGPT1 FLT1 GLA KDR MMP9
8 immune system MP:0005387 9.85 ANGPT1 CD34 FLT1 GLA KDR MMP9
9 vision/eye MP:0005391 9.56 ANGPT1 FLT1 GLA KDR MMP9 RASA1
10 mortality/aging MP:0010768 9.4 AGGF1 ANGPT1 FLT1 GLA KDR MMP9

Drugs & Therapeutics for Angiokeratoma Circumscriptum

Search Clinical Trials, NIH Clinical Center for Angiokeratoma Circumscriptum

Genetic Tests for Angiokeratoma Circumscriptum

Anatomical Context for Angiokeratoma Circumscriptum

Organs/tissues related to Angiokeratoma Circumscriptum:

MalaCards : Skin, Tongue, Breast

Publications for Angiokeratoma Circumscriptum

Articles related to Angiokeratoma Circumscriptum:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Angiokeratoma Circumscriptum Naeviforme on Trunk. 62
33980054 2022
2
Linear lesions in dermatology: a clinicoaetiopathological study. 62
34022084 2021
3
Angiokeratoma Circumscriptum Naeviforme Presenting as a Dark Warty Plaque on the Leg. 62
34990348 2021
4
Angiokeratoma circumscriptum. 62
33342183 2020
5
Angiokeratoma Circumscriptum on the Breast: A Case with Unusual Features. 62
32832469 2020
6
Klippel-Trenaunay Syndrome with Arterio-veno-lymphatic Malformation: A Rare Presentation. 62
32695703 2020
7
D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum. 62
31890366 2019
8
A case report of adult-onset multiple angiokeratomas with zosteriform distribution. 62
30677813 2018
9
Verrucous hemangioma and histopathological differential diagnosis with angiokeratoma circumscriptum neviforme. 62
30156622 2018
10
[Angiokeratoma circumscriptum neviforme]. 62
30041823 2018
11
Recurrent, nodular lesions over the vulva: A diagnostic challenge. 62
30623184 2018
12
Successful treatment of angiokeratoma circumscriptum naeviforme with long pulse alexandrite laser. 62
27511129 2017
13
Extensive angiokeratoma circumscriptum - successful treatment with 595-nm variable-pulse pulsed dye laser and 755-nm long-pulse pulsed alexandrite laser. 62
26736060 2016
14
Nonconventional Use of Flash-Lamp Pulsed-Dye Laser in Dermatology. 62
27631010 2016
15
Capillary malformations: a classification using specific names for specific skin disorders. 62
25864701 2015
16
Angiokeratomas Scroti Associated with Angiokeratomas of the Eyelids: Coincidence or One Entity? A Case Report and Review of the Literature. 62
26228617 2015
17
Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome? 62
25593797 2014
18
Angiokeratoma circumscriptum neviforme: An entity, few and far between. 62
25396132 2014
19
Angiokeratoma circumscriptum of the buccal mucosa: a case report and literature review. 62
25368837 2014
20
Late onset palmar angiokeratoma circumscriptum: An unusual presentation. 62
25165655 2014
21
Angiokeratoma circumscriptum: dilemma in diagnosis. 62
24943793 2014
22
Angiokeratoma circumscriptum in a young male. 62
24470669 2014
23
Dermoscopy: a useful tool for the diagnosis of angiokeratoma. 62
23197916 2012
24
[A new location of angiokeratoma circumscriptum]. 62
23199770 2012
25
Development of hemangioma in a tongue harboring long-standing angiokeratoma circumscriptum. 62
23288806 2012
26
Angiokeratoma circumscriptum of the tongue. 62
22565076 2012
27
Angiokeratoma circumscriptum neviforme. 62
22318117 2012
28
Angiokeratoma circumscriptum naeviforme: a case report of a rare disease. 62
21971276 2011
29
A case of angiokeratoma circumscriptum of the tongue: response with carbon dioxide and pulsed dye laser. 62
22279389 2011
30
Angiokeratoma circumscriptum of the tongue. 62
21463157 2011
31
A case of post-injury angiokeratoma circumscriptum of the chest. 62
20548886 2010
32
What is a capillary malformation? 62
19022106 2008
33
[A histopathologic and imaging study of verrucous hemangioma]. 62
19087812 2008
34
A case of solitary angiokeratoma circumscriptum of the tongue. 62
18187999 2007
35
[Intergluteal angiokeratoma circumscriptum. Report of one case]. 62
17224109 2006
36
Angiokeratoma circumscriptum arranged in a systematized band-like pattern suggesting mosaicism. 62
16848823 2006
37
Verrucous hemangioma revisited. 62
16780464 2006
38
Angiokeratoma circumscriptum of the penis. 62
16536830 2006
39
Angiokeratoma circumscriptum: a case report and review of the literature. 62
16409270 2005
40
Angiokeratoma circumscriptum of the tongue. 62
16207201 2005
41
Angiokeratoma circumscriptum naeviforme: successful treatment with carbon-dioxide laser vaporization. 62
15762221 2005
42
Angiokeratoma circumscriptum. 62
15458538 2004
43
Cutaneous variant of angiokeratoma corporis diffusum associated with angiokeratoma circumscriptum. 62
15347502 2004
44
Angiokeratoma circumscriptum of the tongue. 62
12657024 2003
45
Successful surgical treatment of verrucous hemangioma: a combined approach. 62
12410675 2002
46
Angiokeratoma circumscriptum naeviforme: rare presentation on the neck. 62
11903167 2001
47
Angiokeratoma circumscriptum of the oral cavity. 62
9833054 1998
48
[Angiokeratoma circumscriptum]. 62
9921083 1998
49
A case of angiokeratoma circumscriptum: immunolocalization of matrix metalloproteinase (MMP)-9. 62
9675347 1998
50
Verrucous haemangioma--a case report. 62
9663320 1998

Variations for Angiokeratoma Circumscriptum

Expression for Angiokeratoma Circumscriptum

Search GEO for disease gene expression data for Angiokeratoma Circumscriptum.

Pathways for Angiokeratoma Circumscriptum

Pathways related to Angiokeratoma Circumscriptum according to GeneCards Suite gene sharing:

(show all 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 VEGFA TEK SYNGAP1 RASA1 KDR FLT1
2 13.64 VEGFA TEK SYNGAP1 RASA1 MMP9 KDR
3
Show member pathways
13.24 AGGF1 ANGPT1 KDR RASA1 SYNGAP1 TEK
4
Show member pathways
12.81 VEGFA TEK SLC2A1 KDR FLT1 ANGPT1
5 12.72 VEGFA RASA1 MMP9 KDR FLT1
6 12.31 VEGFA TEK SLC2A1 MMP9 KDR FLT1
7
Show member pathways
12.26 TEK RASA1 KDR FLT1
8
Show member pathways
12.21 VEGFA RASA1 KDR FLT1
9
Show member pathways
12.09 TEK PECAM1 ANGPT1
10
Show member pathways
12.09 VEGFA KDR FLT1
11 12.09 FLT1 KDR RASA1 SYNGAP1 TEK
12 12.01 TEK KDR FLT1
13
Show member pathways
12 VEGFA RASA1 KDR
14 11.95 WT1 VEGFA KDR
15
Show member pathways
11.77 TEK KDR FLT1
16 11.71 VEGFA SLC2A1 KDR FLT1
17 11.67 VEGFA PECAM1 MMP9
18 11.6 TEK PECAM1 MMP9 KDR FLT1
19 11.59 VEGFA KDR FLT1
20 11.44 VEGFA TEK KDR ANGPT1
21 11.4 KDR VEGFA WT1
22 11.39 VEGFA KDR FLT1
23 11.32 VEGFA PECAM1 KDR
24 11.31 TEK RASA1 ANGPT1
25 11.29 VEGFA SLC2A1 ANGPT1
26 11.24 MMP9 KDR ANGPT1
27 11.1 VEGFA SLC2A1 KDR FLT1
28 11.08 VEGFA RASA1 FLT1
29 11.01 MMP9 KDR
30 10.99 VEGFA RASA1 KDR
31 10.93 VEGFA FLT1
32
Show member pathways
10.84 VEGFA KDR FLT1
33 10.82 VEGFA FLT1
34 10.79 VEGFA KDR
35 10.75 VEGFA PECAM1 MMP9 KDR FLT1
36 10.54 TEK MMP9 KDR FLT1
37 10.45 TEK KDR FLT1
38 10.4 VEGFA KDR
39 10.3 VEGFA KDR

GO Terms for Angiokeratoma Circumscriptum

Cellular components related to Angiokeratoma Circumscriptum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.09 VEGFA TEK MMP9 KDR GLA FLT1
2 plasma membrane GO:0005886 9.91 CD34 FLT1 KDR PECAM1 SLC2A1 TEK
3 plasma membrane GO:0005887 9.91 CD34 FLT1 KDR PECAM1 SLC2A1 TEK
4 membrane raft GO:0045121 9.28 TEK SLC2A1 PECAM1 KDR ANGPT1

Biological processes related to Angiokeratoma Circumscriptum according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 10.26 VEGFA PECAM1 KDR FLT1
2 negative regulation of apoptotic process GO:0043066 10.25 WT1 VEGFA TEK RASA1 MMP9 KDR
3 negative regulation of neuron apoptotic process GO:0043524 10.2 SYNGAP1 RASA1 KDR ANGPT1
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.19 ANGPT1 KDR TEK VEGFA
5 positive regulation of MAPK cascade GO:0043410 10.17 VEGFA TEK KDR FLT1
6 angiogenesis GO:0001525 10.15 AGGF1 ANGPT1 FLT1 KDR TEK VEGFA
7 positive regulation of kinase activity GO:0033674 10.11 TEK KDR FLT1
8 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10.1 TEK KDR FLT1 ANGPT1
9 positive regulation of blood vessel endothelial cell migration GO:0043536 10.08 VEGFA KDR ANGPT1
10 positive regulation of endothelial cell proliferation GO:0001938 10.08 VEGFA TEK KDR AGGF1
11 hemopoiesis GO:0030097 10.04 KDR CD34 ANGPT1
12 positive regulation of endothelial cell migration GO:0010595 10.03 VEGFA TEK KDR ANGPT1
13 positive regulation of protein phosphorylation GO:0001934 10.03 VEGFA TEK PECAM1 MMP9 KDR ANGPT1
14 negative regulation of endothelial cell apoptotic process GO:2000352 10.02 TEK KDR ANGPT1
15 sprouting angiogenesis GO:0002040 10.01 VEGFA TEK ANGPT1
16 cellular response to vascular endothelial growth factor stimulus GO:0035924 10 FLT1 KDR VEGFA
17 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.99 VEGFA KDR FLT1
18 positive regulation of focal adhesion assembly GO:0051894 9.97 VEGFA TEK KDR
19 positive regulation of vasculogenesis GO:2001214 9.96 KDR CD34
20 positive regulation of positive chemotaxis GO:0050927 9.95 VEGFA KDR
21 endothelium development GO:0003158 9.93 KDR CD34
22 vascular endothelial growth factor signaling pathway GO:0038084 9.93 FLT1 KDR VEGFA
23 vascular endothelial growth factor receptor-2 signaling pathway GO:0036324 9.92 KDR VEGFA
24 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.91 KDR VEGFA
25 Tie signaling pathway GO:0048014 9.89 ANGPT1 TEK
26 glomerular endothelium development GO:0072011 9.88 CD34 PECAM1
27 glomerulus vasculature development GO:0072012 9.88 ANGPT1 TEK
28 regulation of MAPK cascade GO:0043408 9.87 SYNGAP1 KDR FLT1
29 multicellular organism development GO:0007275 9.81 TEK KDR FLT1
30 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.81 ANGPT1 FLT1 KDR TEK VEGFA
31 vascular wound healing GO:0061042 9.8 VEGFA KDR CD34
32 positive regulation of angiogenesis GO:0045766 9.73 VEGFA TEK KDR FLT1 CD34 AGGF1
33 vasculogenesis GO:0001570 9.32 WT1 VEGFA RASA1 KDR AGGF1

Molecular functions related to Angiokeratoma Circumscriptum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vascular endothelial growth factor receptor activity GO:0005021 9.26 KDR FLT1
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.1 TEK KDR FLT1

Sources for Angiokeratoma Circumscriptum

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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