MCID: FML025
MIFTS: 19

Familial Glomangioma

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Familial Glomangioma

MalaCards integrated aliases for Familial Glomangioma:

Name: Familial Glomangioma 12 15
Hereditary Glomangioma 70

Classifications:



External Ids:

Disease Ontology 12 DOID:7996
NCIt 50 C5350
UMLS 70 C1333987

Summaries for Familial Glomangioma

MalaCards based summary : Familial Glomangioma, also known as hereditary glomangioma, is related to glomangioma and capillary hemangioma, and has symptoms including pain An important gene associated with Familial Glomangioma is GLMN (Glomulin, FKBP Associated Protein), and among its related pathways/superpathways are Immune response IL-23 signaling pathway and Tyrosine Kinases / Adaptors.

Related Diseases for Familial Glomangioma

Diseases in the Glomangioma family:

Familial Glomangioma

Diseases related to Familial Glomangioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 glomangioma 29.8 TEK GLMN
2 capillary hemangioma 9.8 TEK FGF2
3 hemangioma 9.8 TEK FGF2
4 capillary disease 9.8 TEK FGF2
5 intussusception 9.8 TEK FGF2
6 diabetic macular edema 9.8 TEK FGF2
7 blue rubber bleb nevus 9.8 TEK GLMN
8 benign perivascular tumor 9.7 TEK GLMN
9 venous malformations, multiple cutaneous and mucosal 9.7 TEK GLMN
10 corneal neovascularization 9.7 TEK FGF2
11 limb ischemia 9.7 TEK FGF2
12 ischemia 9.7 TEK FGF2
13 klippel-trenaunay-weber syndrome 9.7 TEK GLMN
14 placental insufficiency 9.7 TEK FGF2
15 retinal vascular disease 9.7 TEK FGF2
16 microvascular complications of diabetes 5 9.6 TEK FGF2
17 exudative vitreoretinopathy 1 9.6 TEK FGF2
18 pulmonary hypertension 9.5 TEK FGF2

Graphical network of the top 20 diseases related to Familial Glomangioma:



Diseases related to Familial Glomangioma

Symptoms & Phenotypes for Familial Glomangioma

UMLS symptoms related to Familial Glomangioma:


pain

Drugs & Therapeutics for Familial Glomangioma

Search Clinical Trials , NIH Clinical Center for Familial Glomangioma

Genetic Tests for Familial Glomangioma

Anatomical Context for Familial Glomangioma

Publications for Familial Glomangioma

Articles related to Familial Glomangioma:

# Title Authors PMID Year
1
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect. 61
15689436 2005
2
Local and systemic expression of basic fibroblast growth factor in a patient with familial glomangioma. 61
11952557 2002
3
[Multiple familial glomangioma]. 61
8276593 1993

Variations for Familial Glomangioma

Expression for Familial Glomangioma

Search GEO for disease gene expression data for Familial Glomangioma.

Pathways for Familial Glomangioma

Pathways related to Familial Glomangioma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 TEK FGF2
2 11.33 TEK FGF2
3 10.91 TEK FGF2
4 10 TEK FGF2

GO Terms for Familial Glomangioma

Biological processes related to Familial Glomangioma according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.49 TEK FGF2
2 angiogenesis GO:0001525 9.48 TEK FGF2
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.46 TEK FGF2
4 positive regulation of protein phosphorylation GO:0001934 9.43 TEK FGF2
5 positive regulation of protein kinase B signaling GO:0051897 9.4 TEK FGF2
6 positive regulation of angiogenesis GO:0045766 9.37 TEK FGF2
7 positive regulation of MAPK cascade GO:0043410 9.32 TEK FGF2
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.26 TEK FGF2
9 positive regulation of endothelial cell proliferation GO:0001938 9.16 TEK FGF2
10 positive regulation of endothelial cell migration GO:0010595 8.96 TEK FGF2
11 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 8.62 TEK FGF2

Sources for Familial Glomangioma

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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