MCID: ANG006
MIFTS: 26

Angiokeratoma of Mibelli

Categories: Cancer diseases, Cardiovascular diseases, Skin diseases

Aliases & Classifications for Angiokeratoma of Mibelli

MalaCards integrated aliases for Angiokeratoma of Mibelli:

Name: Angiokeratoma of Mibelli 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:5948
NCIt 49 C3927
SNOMED-CT 67 62727008
UMLS 71 C0263640

Summaries for Angiokeratoma of Mibelli

MalaCards based summary : Angiokeratoma of Mibelli is related to angiokeratoma and keratosis. An important gene associated with Angiokeratoma of Mibelli is GLA (Galactosidase Alpha), and among its related pathways/superpathways are S1P3 pathway and Signaling events mediated by VEGFR1 and VEGFR2. Affiliated tissues include bone, skin and eye, and related phenotypes are Synthetic lethal with gemcitabine and muscle

Related Diseases for Angiokeratoma of Mibelli

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 angiokeratoma 10.6
2 keratosis 10.3
3 gastroesophageal junction adenocarcinoma 10.0 MMP9 KDR
4 bone squamous cell carcinoma 10.0 MMP9 KDR
5 pneumothorax 9.9 MMP9 KDR
6 limb ischemia 9.9 MMP9 KDR
7 septate uterus 9.8 KDR FLT1
8 varicose veins 9.8 MMP9 KDR
9 epithelioid hemangioendothelioma 9.8 KDR FLT1
10 primary cutaneous b-cell lymphoma 9.8 KDR FLT1
11 kuhnt-junius degeneration 9.8 KDR FLT1
12 neovascular glaucoma 9.8 KDR FLT1
13 capillary disease 9.8 KDR FLT1
14 blood group, globoside system 9.8 KDR FLT1
15 macular retinal edema 9.8 KDR FLT1
16 capillary hemangioma 9.8 KDR FLT1
17 retinal vascular occlusion 9.8 KDR FLT1
18 intussusception 9.8 KDR FLT1
19 placenta accreta 9.8 KDR FLT1
20 cardiovascular cancer 9.8 KDR FLT1
21 vascular cancer 9.8 KDR FLT1
22 retinal artery occlusion 9.8 KDR FLT1
23 corneal neovascularization 9.8 KDR FLT1
24 degeneration of macula and posterior pole 9.7 KDR FLT1
25 placental insufficiency 9.7 KDR FLT1
26 breast carcinoma in situ 9.7 KDR FLT1
27 retinal vascular disease 9.7 KDR FLT1
28 exudative vitreoretinopathy 1 9.7 KDR FLT1
29 keratitis, hereditary 9.7 MMP9 FLT1
30 angiosarcoma 9.7 KDR FLT1
31 chorioamnionitis 9.6 MMP9 FLT1
32 microvascular complications of diabetes 1 9.6 MMP9 FLT1
33 microvascular complications of diabetes 5 9.6 KDR FLT1
34 grade iii astrocytoma 9.5 MMP9 FLT1
35 cerebral cavernous malformations 9.5 KDR FLT1
36 cardiovascular organ benign neoplasm 9.5 KDR GLA FLT1
37 bone cancer 9.4 MMP9 KDR
38 rosacea 9.3 MMP9 KDR FLT1
39 arteriovenous malformations of the brain 9.3 MMP9 KDR FLT1
40 gliosarcoma 9.3 MMP9 KDR FLT1
41 hemangioma 9.3 MMP9 KDR FLT1
42 adenocarcinoma 9.3 MMP9 KDR FLT1
43 clear cell renal cell carcinoma 9.3 MMP9 KDR FLT1
44 myeloma, multiple 9.3 MMP9 KDR FLT1
45 macular degeneration, age-related, 1 9.3 MMP9 KDR FLT1
46 pre-eclampsia 9.3 MMP9 KDR FLT1
47 eye disease 9.3 MMP9 KDR FLT1
48 pancreatic adenocarcinoma 9.2 MMP9 KDR FLT1
49 gastric adenocarcinoma 9.2 MMP9 KDR FLT1
50 squamous cell carcinoma, head and neck 9.2 MMP9 KDR FLT1

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



Diseases related to Angiokeratoma of Mibelli

Symptoms & Phenotypes for Angiokeratoma of Mibelli

GenomeRNAi Phenotypes related to Angiokeratoma of Mibelli according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with gemcitabine GR00225-A 8.62 FLT1 KDR

MGI Mouse Phenotypes related to Angiokeratoma of Mibelli:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.26 FLT1 GLA KDR MMP9
2 vision/eye MP:0005391 8.92 FLT1 GLA KDR MMP9

Drugs & Therapeutics for Angiokeratoma of Mibelli

Search Clinical Trials , NIH Clinical Center for Angiokeratoma of Mibelli

Genetic Tests for Angiokeratoma of Mibelli

Anatomical Context for Angiokeratoma of Mibelli

MalaCards organs/tissues related to Angiokeratoma of Mibelli:

40
Bone, Skin, Eye, Brain, Lung, Breast, Uterus

Publications for Angiokeratoma of Mibelli

Articles related to Angiokeratoma of Mibelli:

(show all 12)
# Title Authors PMID Year
1
A case report of adult-onset multiple angiokeratomas with zosteriform distribution. 61
30677813 2018
2
Recurrent, nodular lesions over the vulva: A diagnostic challenge. 61
30623184 2018
3
Angiokeratomas Scroti Associated with Angiokeratomas of the Eyelids: Coincidence or One Entity? A Case Report and Review of the Literature. 61
26228617 2015
4
Treatment of angiokeratoma of Mibelli alone or in combination with pulsed dye laser and long-pulsed Nd: YAG laser. 61
24911941 2014
5
[Intergluteal angiokeratoma circumscriptum. Report of one case]. 61
17224109 2006
6
Thrombosed solitary angiokeratoma of Mibelli simulating malignant melanoma: the importance of dermoscopy in differential diagnosis. 61
16405622 2006
7
Severe predominantly acral variant of angiokeratoma of Mibelli: response to long-pulse Nd:YAG (1064 nm) laser treatment. 61
11606931 2001
8
Angiokeratomas: an update. 61
8993949 1996
9
Angiokeratoma of Mibelli with necrosis of the fingertips. 61
4635805 1972
10
Angiokeratoma of Mibelli: a family with nodular lesions of the legs. 61
5708572 1968
11
Angiokeratoma of Mibelli. 61
13712473 1961
12
[Hyperkeratosis developed over purpuric elements with clinical aspect of angiokeratoma of Mibelli]. 61
14851855 1951

Variations for Angiokeratoma of Mibelli

Expression for Angiokeratoma of Mibelli

Search GEO for disease gene expression data for Angiokeratoma of Mibelli.

Pathways for Angiokeratoma of Mibelli

GO Terms for Angiokeratoma of Mibelli

Biological processes related to Angiokeratoma of Mibelli according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.43 KDR FLT1
2 positive regulation of MAPK cascade GO:0043410 9.4 KDR FLT1
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.37 KDR FLT1
4 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.32 KDR FLT1
5 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.26 KDR FLT1
6 sprouting angiogenesis GO:0002040 9.16 KDR FLT1
7 positive regulation of cell migration GO:0030335 9.13 MMP9 KDR FLT1
8 vascular endothelial growth factor signaling pathway GO:0038084 8.62 KDR FLT1

Molecular functions related to Angiokeratoma of Mibelli according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 KDR FLT1
2 growth factor binding GO:0019838 9.16 KDR FLT1
3 vascular endothelial growth factor binding GO:0038085 8.96 KDR FLT1
4 vascular endothelial growth factor-activated receptor activity GO:0005021 8.62 KDR FLT1

Sources for Angiokeratoma of Mibelli

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
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