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MCID: ANG007
MIFTS: 34

Angiokeratoma Circumscriptum

Categories: Cancer diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Angiokeratoma Circumscriptum

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MalaCards integrated aliases for Angiokeratoma Circumscriptum:

Name: Angiokeratoma Circumscriptum 12 15 71

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:5949
NCIt 49 C7751
SNOMED-CT 67 21848000
UMLS 71 C0263638
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Summaries for Angiokeratoma Circumscriptum

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MalaCards based summary : Angiokeratoma Circumscriptum is related to angiokeratoma of mibelli and lymphangioma. An important gene associated with Angiokeratoma Circumscriptum is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways are Innate Immune System and PAK Pathway. Affiliated tissues include skin, breast and heart, and related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Angiokeratoma Circumscriptum

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

(show top 50) (show all 187)
# Related Disease Score Top Affiliating Genes
1 angiokeratoma of mibelli 29.9 NKRF MMP9 KDR GLA FLT1
2 lymphangioma 29.7 VEGFA PECAM1 KDR CD34
3 basal cell carcinoma 29.5 VEGFA RASA1 MMP9 CD34
4 angiokeratoma of fordyce 29.4 WT1 PECAM1 NKRF MMP9 GLA FLT1
5 vascular cancer 29.1 VEGFA PECAM1 KDR FLT1 CD34
6 arteriovenous malformation 29.1 VEGFA TEK RASA1 MMP9 ANGPT1
7 hemangioma 27.7 VEGFA TEK SLC2A1 PECAM1 MMP9 KDR
8 angiokeratoma 11.0
9 keratosis 10.6
10 verrucous hemangioma 10.5
11 fabry disease 10.4
12 septate uterus 10.4 KDR FLT1
13 gallbladder melanoma 10.3 SLC2A1 PECAM1
14 rare lymphatic malformation 10.3
15 middle ear squamous cell carcinoma 10.3 MMP9 CD34
16 pulmonary vein stenosis 10.3 PECAM1 KDR
17 skin epithelioid hemangioma 10.2 PECAM1 CD34
18 central nervous system angiosarcoma 10.2 PECAM1 CD34
19 intravascular angioleiomyoma 10.2 PECAM1 CD34
20 heart fibrosarcoma 10.2 PECAM1 CD34
21 central nervous system hemangioma 10.2 PECAM1 CD34
22 ovarian angiosarcoma 10.2 PECAM1 CD34
23 conventional angiosarcoma 10.2 PECAM1 CD34
24 angiomyoma 10.2 PECAM1 CD34
25 pyogenic granuloma 10.2 TEK CD34
26 aortic malignant tumor 10.2 PECAM1 CD34
27 gallbladder leiomyosarcoma 10.2 PECAM1 CD34
28 hemangioma of spleen 10.2 PECAM1 CD34
29 ovary sarcoma 10.2 PECAM1 CD34
30 klippel-trenaunay-weber syndrome 10.2
31 lipomatosis, multiple 10.2
32 fucosidosis 10.2
33 d-2-hydroxyglutaric aciduria 1 10.2
34 2-hydroxyglutaric aciduria 10.2
35 nodular malignant melanoma 10.2
36 pleomorphic lipoma 10.2
37 melanoma 10.2
38 papilloma 10.2
39 pigmented basal cell carcinoma 10.2
40 heart leiomyosarcoma 10.2 PECAM1 CD34
41 colonic lymphangioma 10.2 PECAM1 CD34
42 liposarcoma of bone 10.2 PECAM1 CD34
43 intravascular fasciitis 10.2 PECAM1 CD34
44 erythema elevatum diutinum 10.2 PECAM1 CD34
45 liver leiomyoma 10.2 PECAM1 CD34
46 spleen cancer 10.2 PECAM1 CD34
47 breast hemangioma 10.2 PECAM1 CD34
48 heart sarcoma 10.2 PECAM1 CD34
49 vulvar leiomyoma 10.2 PECAM1 CD34
50 skin sarcoma 10.2 PECAM1 CD34

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



Diseases related to Angiokeratoma Circumscriptum
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Symptoms & Phenotypes for Angiokeratoma Circumscriptum

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GenomeRNAi Phenotypes related to Angiokeratoma Circumscriptum according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.55 BTK KDR
2 Decreased viability GR00221-A-2 9.55 BTK KDR
3 Decreased viability GR00221-A-3 9.55 BTK KDR RASA1 TEK
4 Decreased viability GR00221-A-4 9.55 BTK KDR RASA1
5 Decreased viability GR00301-A 9.55 BTK
6 Decreased viability GR00381-A-1 9.55 RASA1
7 Decreased viability GR00402-S-2 9.55 BTK KDR RASA1 TEK

MGI Mouse Phenotypes related to Angiokeratoma Circumscriptum:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 BTK CD34 FLT1 GLA KDR MMP9
2 cardiovascular system MP:0005385 10.22 ANGPT1 FLT1 GLA KDR MMP9 PECAM1
3 growth/size/body region MP:0005378 10.22 ANGPT1 BTK FLT1 GLA KDR MMP9
4 homeostasis/metabolism MP:0005376 10.21 ANGPT1 BTK CD34 FLT1 GLA KDR
5 immune system MP:0005387 10.14 ANGPT1 BTK CD34 FLT1 GLA KDR
6 hematopoietic system MP:0005397 10.11 BTK CD34 FLT1 KDR MMP9 PECAM1
7 mortality/aging MP:0010768 10.11 ANGPT1 BTK FLT1 GLA KDR MMP9
8 embryo MP:0005380 10.1 ANGPT1 FLT1 KDR RASA1 SLC2A1 TEK
9 muscle MP:0005369 10.02 ANGPT1 FLT1 GLA KDR MMP9 PECAM1
10 nervous system MP:0003631 9.91 ANGPT1 FLT1 GLA KDR MMP9 RASA1
11 no phenotypic analysis MP:0003012 9.63 KDR NKRF RASA1 SLC2A1 VEGFA WT1
12 renal/urinary system MP:0005367 9.43 ANGPT1 GLA MMP9 PECAM1 VEGFA WT1
13 vision/eye MP:0005391 9.23 ANGPT1 FLT1 GLA KDR MMP9 RASA1
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Drugs & Therapeutics for Angiokeratoma Circumscriptum

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Search Clinical Trials , NIH Clinical Center for Angiokeratoma Circumscriptum

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Genetic Tests for Angiokeratoma Circumscriptum

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Anatomical Context for Angiokeratoma Circumscriptum

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MalaCards organs/tissues related to Angiokeratoma Circumscriptum:

40
Skin, Breast, Heart, Tongue, Bone, Spleen, Liver
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Publications for Angiokeratoma Circumscriptum

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Articles related to Angiokeratoma Circumscriptum:

(show top 50) (show all 63)
# Title Authors PMID Year
1
D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum. 61
31890366 2019
2
A case report of adult-onset multiple angiokeratomas with zosteriform distribution. 61
30677813 2018
3
Verrucous hemangioma and histopathological differential diagnosis with angiokeratoma circumscriptum neviforme. 61
30156622 2018
4
[Angiokeratoma circumscriptum neviforme]. 61
30041823 2018
5
Recurrent, nodular lesions over the vulva: A diagnostic challenge. 61
30623184 2018
6
Successful treatment of angiokeratoma circumscriptum naeviforme with long pulse alexandrite laser. 61
27511129 2017
7
Extensive angiokeratoma circumscriptum - successful treatment with 595-nm variable-pulse pulsed dye laser and 755-nm long-pulse pulsed alexandrite laser. 61
26736060 2016
8
Nonconventional Use of Flash-Lamp Pulsed-Dye Laser in Dermatology. 61
27631010 2016
9
Capillary malformations: a classification using specific names for specific skin disorders. 61
25864701 2015
10
Angiokeratomas Scroti Associated with Angiokeratomas of the Eyelids: Coincidence or One Entity? A Case Report and Review of the Literature. 61
26228617 2015
11
Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome? 61
25593797 2014
12
Angiokeratoma circumscriptum neviforme: An entity, few and far between. 61
25396132 2014
13
Angiokeratoma circumscriptum of the buccal mucosa: a case report and literature review. 61
25368837 2014
14
Late onset palmar angiokeratoma circumscriptum: An unusual presentation. 61
25165655 2014
15
Angiokeratoma circumscriptum: dilemma in diagnosis. 61
24943793 2014
16
Angiokeratoma circumscriptum in a young male. 61
24470669 2014
17
[A new location of angiokeratoma circumscriptum]. 61
23199770 2012
18
Development of hemangioma in a tongue harboring long-standing angiokeratoma circumscriptum. 61
23288806 2012
19
Dermoscopy: a useful tool for the diagnosis of angiokeratoma. 61
23197916 2012
20
Angiokeratoma circumscriptum of the tongue. 61
22565076 2012
21
Angiokeratoma circumscriptum neviforme. 61
22318117 2012
22
Angiokeratoma circumscriptum naeviforme: a case report of a rare disease. 61
21971276 2011
23
Angiokeratoma circumscriptum of the tongue. 61
21463157 2011
24
A case of angiokeratoma circumscriptum of the tongue: response with carbon dioxide and pulsed dye laser. 61
22279389 2011
25
A case of post-injury angiokeratoma circumscriptum of the chest. 61
20548886 2010
26
What is a capillary malformation? 61
19022106 2008
27
[A histopathologic and imaging study of verrucous hemangioma]. 61
19087812 2008
28
A case of solitary angiokeratoma circumscriptum of the tongue. 61
18187999 2007
29
[Intergluteal angiokeratoma circumscriptum. Report of one case]. 61
17224109 2006
30
Angiokeratoma circumscriptum arranged in a systematized band-like pattern suggesting mosaicism. 61
16848823 2006
31
Verrucous hemangioma revisited. 61
16780464 2006
32
Angiokeratoma circumscriptum of the penis. 61
16536830 2006
33
Angiokeratoma circumscriptum: a case report and review of the literature. 61
16409270 2005
34
Angiokeratoma circumscriptum of the tongue. 61
16207201 2005
35
Angiokeratoma circumscriptum naeviforme: successful treatment with carbon-dioxide laser vaporization. 61
15762221 2005
36
Angiokeratoma circumscriptum. 61
15458538 2004
37
Cutaneous variant of angiokeratoma corporis diffusum associated with angiokeratoma circumscriptum. 61
15347502 2004
38
Angiokeratoma circumscriptum of the tongue. 61
12657024 2003
39
Successful surgical treatment of verrucous hemangioma: a combined approach. 61
12410675 2002
40
Angiokeratoma circumscriptum naeviforme: rare presentation on the neck. 61
11903167 2001
41
Angiokeratoma circumscriptum of the oral cavity. 61
9833054 1998
42
[Angiokeratoma circumscriptum]. 61
9921083 1998
43
A case of angiokeratoma circumscriptum: immunolocalization of matrix metalloproteinase (MMP)-9. 61
9675347 1998
44
Verrucous haemangioma--a case report. 61
9663320 1998
45
[Multiple Fordyce-type angiokeratomas of the scrotum. An iatrogenic case]. 61
9628980 1998
46
Angiokeratomas: an update. 61
8993949 1996
47
Argon laser treatment of cutaneous multiple angiokeratomas. 61
7894939 1995
48
Multinodular hemosiderotic dermatofibroma. 61
2073965 1990
49
Angiokeratoma Circumscriptum. 61
28128171 1989
50
Verrucous hemangioma and angiokeratoma circumscriptum: clinical and histologic differential characteristics. 61
2910968 1989
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Variations for Angiokeratoma Circumscriptum

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Expression for Angiokeratoma Circumscriptum

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Search GEO for disease gene expression data for Angiokeratoma Circumscriptum.
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Pathways for Angiokeratoma Circumscriptum

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

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.86 VEGFA TEK RASA1 PECAM1 MMP9 GLA
2
PAK Pathway 63
Show member pathways
 13.11 TEK SLC2A1 KDR FLT1 BTK ANGPT1
3
PI3K-Akt signaling pathway 36
Show member pathways
 12.81 VEGFA TEK KDR FLT1 ANGPT1
4
MAPK signaling pathway 36 1
12.55 VEGFA TEK RASA1 KDR FLT1 ANGPT1
5
Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways 64
Show member pathways
 12.5 VEGFA PECAM1 MMP9 KDR
6
Ras signaling pathway 36
Show member pathways
 12.44 VEGFA TEK RASA1 KDR FLT1 ANGPT1
7
EPH-Ephrin signaling 65
Show member pathways
 12.43 VEGFA RASA1 MMP9 KDR
8
Immune response Fc epsilon RI pathway 22
Show member pathways
 12.42 VEGFA RASA1 KDR BTK
9
VEGF Pathway (Qiagen) 63
Show member pathways
 12.23 VEGFA KDR FLT1 BTK
10
Tyrosine Kinases / Adaptors 4
11.97 TEK KDR FLT1 BTK
11
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.92 WT1 VEGFA KDR
12
Fluid shear stress and atherosclerosis 36
11.92 VEGFA PECAM1 MMP9 KDR
13
S1P3 pathway 1
Show member pathways
 11.84 VEGFA KDR FLT1
14
EPHA forward signaling 1
Show member pathways
 11.84 VEGFA RASA1 KDR
15
Rheumatoid arthritis 36
11.73 VEGFA TEK FLT1 ANGPT1
16
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.7 VEGFA RASA1 KDR FLT1
17
HIF-1 signaling pathway 36
11.59 VEGFA TEK SLC2A1 FLT1 ANGPT1
18
Vemurafenib Pathway, Pharmacodynamics 60
11.35 VEGFA KDR FLT1
19
Angiogenesis (CST) 4
11.3 TEK PECAM1 MMP9 KDR FLT1
20
Photodynamic therapy-induced HIF-1 survival signaling 1
11.25 VEGFA SLC2A1 ANGPT1
21
HIF-2-alpha transcription factor network 1
11.09 VEGFA SLC2A1 KDR FLT1
22
G-protein signaling_Rap2B regulation pathway 22
10.85 TEK KDR FLT1 BTK ANGPT1
23
VEGF binds to VEGFR leading to receptor dimerization 65
Show member pathways
 10.75 VEGFA KDR FLT1
24
Angiogenesis (WikiPathways) 1
10.48 VEGFA TEK MMP9 KDR FLT1 ANGPT1
25
RNAi Pathway 63
10.18 TEK RASA1 ANGPT1
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GO Terms for Angiokeratoma Circumscriptum

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.9 WT1 VEGFA TEK SLC2A1 RASA1 PECAM1
2 extracellular region GO:0005576 9.56 VEGFA TEK MMP9 KDR GLA FLT1
3 membrane raft GO:0045121 9.1 TEK SLC2A1 PECAM1 KDR BTK ANGPT1

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.91 TEK PECAM1 CD34 ANGPT1
2 protein autophosphorylation GO:0046777 9.88 TEK KDR FLT1 BTK
3 positive regulation of cell migration GO:0030335 9.88 VEGFA PECAM1 MMP9 KDR FLT1
4 regulation of cell shape GO:0008360 9.84 VEGFA RASA1 KDR
5 peptidyl-tyrosine phosphorylation GO:0018108 9.83 TEK KDR FLT1 BTK
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.81 VEGFA PECAM1 ANGPT1
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.81 TEK KDR FLT1 ANGPT1
8 positive regulation of endothelial cell proliferation GO:0001938 9.8 VEGFA TEK KDR
9 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.79 VEGFA KDR FLT1
10 positive regulation of blood vessel endothelial cell migration GO:0043536 9.77 VEGFA KDR ANGPT1
11 positive regulation of protein phosphorylation GO:0001934 9.77 VEGFA TEK PECAM1 MMP9 KDR
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 TEK KDR FLT1 ANGPT1
13 negative regulation of endothelial cell apoptotic process GO:2000352 9.72 TEK KDR ANGPT1
14 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.71 VEGFA KDR FLT1
15 vasculogenesis GO:0001570 9.71 WT1 VEGFA RASA1 KDR
16 negative regulation of apoptotic process GO:0043066 9.7 WT1 VEGFA TEK RASA1 MMP9 KDR
17 positive regulation of focal adhesion assembly GO:0051894 9.67 VEGFA TEK KDR
18 positive regulation of receptor internalization GO:0002092 9.66 VEGFA ANGPT1
19 cell migration involved in sprouting angiogenesis GO:0002042 9.66 VEGFA KDR
20 negative regulation of nitric oxide biosynthetic process GO:0045019 9.65 GLA CD34
21 macrophage differentiation GO:0030225 9.65 VEGFA MMP9
22 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.65 VEGFA FLT1
23 positive regulation of angiogenesis GO:0045766 9.65 VEGFA TEK KDR FLT1 CD34
24 endothelial cell proliferation GO:0001935 9.64 TEK CD34
25 positive regulation of positive chemotaxis GO:0050927 9.64 VEGFA KDR
26 positive regulation of vasculogenesis GO:2001214 9.63 KDR CD34
27 positive regulation of endothelial cell migration GO:0010595 9.62 VEGFA TEK KDR ANGPT1
28 endothelium development GO:0003158 9.61 KDR CD34
29 vascular endothelial growth factor signaling pathway GO:0038084 9.61 VEGFA KDR FLT1
30 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.6 VEGFA KDR
31 glomerulus vasculature development GO:0072012 9.58 TEK ANGPT1
32 glomerular endothelium development GO:0072011 9.57 PECAM1 CD34
33 Tie signaling pathway GO:0048014 9.56 TEK ANGPT1
34 angiogenesis GO:0001525 9.43 VEGFA TEK PECAM1 KDR FLT1 ANGPT1
35 sprouting angiogenesis GO:0002040 9.02 VEGFA TEK KDR FLT1 ANGPT1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 TEK KDR FLT1
2 vascular endothelial growth factor binding GO:0038085 9.32 KDR FLT1
3 vascular endothelial growth factor-activated receptor activity GO:0005021 9.26 KDR FLT1
4 growth factor binding GO:0019838 9.13 TEK KDR FLT1
5 protein tyrosine kinase activity GO:0004713 8.92 TEK KDR FLT1 BTK
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Sources for Angiokeratoma Circumscriptum

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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