MCID: HMN027
MIFTS: 37

Hemangioma, Capillary Infantile

Categories: Genetic diseases, Cancer diseases, Cardiovascular diseases, Skin diseases

Aliases & Classifications for Hemangioma, Capillary Infantile

MalaCards integrated aliases for Hemangioma, Capillary Infantile:

Name: Hemangioma, Capillary Infantile 53 72 71 28
Hemangioma, Capillary Infantile, Somatic 53 13
Hci 53 71
Hemangioma, Capillary Infantile, Susceptibility to 53
Hemangioma, Hereditary Capillary 53
Hemangioma Hereditary Capillary 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant type
high penetrance


HPO:

31
hemangioma, capillary infantile:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 602089
MedGen 39 C1865871
MeSH 41 D018324

Summaries for Hemangioma, Capillary Infantile

OMIM : 53 Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births (Mulliken and Young, 1988). Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations (see, e.g., CMC1, 163000; 108010; and CCM, 116860), in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Spring and Bentz, 2005; Legiehn and Heran, 2006). Legiehn and Heran (2006) noted that the term 'hemangioma' in adults is considered inaccurate and should be discarded. Most hemangiomas occur sporadically, but some families with autosomal dominant inheritance have been reported (Walter et al., 1999). (602089)

MalaCards based summary : Hemangioma, Capillary Infantile, also known as hemangioma, capillary infantile, somatic, is related to allergic conjunctivitis and conjunctivitis, and has symptoms including capillary hemangiomas An important gene associated with Hemangioma, Capillary Infantile is KDR (Kinase Insert Domain Receptor), and among its related pathways/superpathways are mTOR signaling pathway (KEGG) and Apoptosis Pathway. Affiliated tissues include endothelial and skin, and related phenotype is no phenotypic analysis.

UniProtKB/Swiss-Prot : 71 Hemangioma, capillary infantile: A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring.

Wikipedia : 72 A hemangioma, also known as infantile hemangioma (IH), is one of the most common benign tumors of... more...

Related Diseases for Hemangioma, Capillary Infantile

Diseases in the Capillary Hemangioma family:

Hemangioma, Capillary Infantile

Diseases related to Hemangioma, Capillary Infantile via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 allergic conjunctivitis 10.0
2 conjunctivitis 10.0
3 breast cancer 9.9
4 periodontitis 9.9
5 hemangioendothelioma 9.7 FLT4 KDR
6 kaposiform hemangioendothelioma 9.7 FLT4 KDR
7 capillary hemangioma 9.7 FLT4 KDR
8 lymphangioma 9.7 FLT4 KDR
9 vascular cancer 9.6 FLT4 KDR
10 breast carcinoma in situ 9.6 FLT4 KDR
11 angiosarcoma 9.6 FLT4 KDR
12 lymphedema 9.6 FLT4 KDR
13 kidney cancer 9.5 FLT4 KDR
14 lung cancer susceptibility 3 9.4 FLT4 KDR
15 hemangioma 9.3 ANTXR1 FLT4 KDR
16 renal cell carcinoma, nonpapillary 9.3 FLT4 KDR

Graphical network of the top 20 diseases related to Hemangioma, Capillary Infantile:



Diseases related to Hemangioma, Capillary Infantile

Symptoms & Phenotypes for Hemangioma, Capillary Infantile

Symptoms via clinical synopsis from OMIM:

53
Skin:
capillary hemangiomas

Misc:
most sporadic as single lesions


Clinical features from OMIM:

602089

Human phenotypes related to Hemangioma, Capillary Infantile:

31
# Description HPO Frequency HPO Source Accession
1 capillary hemangiomas 31 HP:0005306

MGI Mouse Phenotypes related to Hemangioma, Capillary Infantile:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.8 ANTXR1 FLT4 KDR

Drugs & Therapeutics for Hemangioma, Capillary Infantile

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Prospective Study on the Incidence and Related Risk Factors of Infantile Hemangioma in China Recruiting NCT03173352

Search NIH Clinical Center for Hemangioma, Capillary Infantile

Genetic Tests for Hemangioma, Capillary Infantile

Genetic tests related to Hemangioma, Capillary Infantile:

# Genetic test Affiliating Genes
1 Hemangioma, Capillary Infantile 28 ANTXR1 FLT4 KDR

Anatomical Context for Hemangioma, Capillary Infantile

MalaCards organs/tissues related to Hemangioma, Capillary Infantile:

38
Endothelial, Skin

Publications for Hemangioma, Capillary Infantile

Articles related to Hemangioma, Capillary Infantile:

# Title Authors Year
1
Efficacy of olopatadine HCI 0.1%, ketotifen fumarate 0.025%, epinastine HCI 0.05%, emedastine 0.05% and fluorometholone acetate 0.1% ophthalmic solutions for seasonal allergic conjunctivitis: a placebo-controlled environmental trial. ( 18631332 )
2009
2
Divergent effects of raloxifene HCI on the pharmacokinetics and pharmacodynamics of warfarin. ( 11496940 )
2001
3
Human periodontal ligament fibroblast response to PDGF-BB and IGF-1 application on tetracycline HCI conditioned root surfaces. ( 9650878 )
1998
4
First-line fadrozole HCI (CGS 16949A) versus tamoxifen in postmenopausal women with advanced breast cancer. Prospective randomised trial of the Swiss Group for Clinical Cancer Research SAKK 20/88. ( 8839901 )
1996

Variations for Hemangioma, Capillary Infantile

UniProtKB/Swiss-Prot genetic disease variations for Hemangioma, Capillary Infantile:

71
# Symbol AA change Variation ID SNP ID
1 FLT4 p.Pro954Ser VAR_018411 rs34255532
2 FLT4 p.Pro1137Ser VAR_018416
3 KDR p.Cys482Arg VAR_042057 rs34231037
4 KDR p.Pro1147Ser VAR_063147 rs121917766

ClinVar genetic disease variations for Hemangioma, Capillary Infantile:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KDR NM_002253.2(KDR): c.3439C> T (p.Pro1147Ser) single nucleotide variant Pathogenic rs121917766 GRCh37 Chromosome 4, 55955106: 55955106
2 KDR NM_002253.2(KDR): c.1444T> C (p.Cys482Arg) single nucleotide variant risk factor rs34231037 GRCh37 Chromosome 4, 55972946: 55972946
3 ANTXR1 NM_032208.2(ANTXR1): c.976G> A (p.Ala326Thr) single nucleotide variant risk factor rs119475040 GRCh37 Chromosome 2, 69379325: 69379325

Cosmic variations for Hemangioma, Capillary Infantile:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM52975 GNAQ soft tissue,blood vessel,other,vascular malformation c.548G>A p.R183Q 2
2 COSM5945938 GNAQ soft tissue,blood vessel,other,vascular malformation c.548G>T p.R183L 2

Expression for Hemangioma, Capillary Infantile

Search GEO for disease gene expression data for Hemangioma, Capillary Infantile.

Pathways for Hemangioma, Capillary Infantile

Pathways related to Hemangioma, Capillary Infantile according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.96 FLT4 KDR
2
Show member pathways
11.9 FLT4 KDR
3
Show member pathways
11.84 FLT4 KDR
4
Show member pathways
11.81 FLT4 KDR
5
Show member pathways
11.69 FLT4 KDR
6 11.57 FLT4 KDR
7
Show member pathways
11.33 FLT4 KDR
8 11.27 FLT4 KDR
9
Show member pathways
11.18 FLT4 KDR
10
Show member pathways
10.95 FLT4 KDR
11 10.58 FLT4 KDR
12
Show member pathways
9.83 FLT4 KDR

GO Terms for Hemangioma, Capillary Infantile

Biological processes related to Hemangioma, Capillary Infantile according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.51 FLT4 KDR
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.49 FLT4 KDR
3 protein autophosphorylation GO:0046777 9.48 FLT4 KDR
4 peptidyl-tyrosine phosphorylation GO:0018108 9.46 FLT4 KDR
5 positive regulation of protein phosphorylation GO:0001934 9.43 FLT4 KDR
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.4 FLT4 KDR
7 positive regulation of MAPK cascade GO:0043410 9.37 FLT4 KDR
8 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.32 FLT4 KDR
9 positive regulation of endothelial cell proliferation GO:0001938 9.26 FLT4 KDR
10 positive regulation of endothelial cell migration GO:0010595 9.16 FLT4 KDR
11 cellular response to vascular endothelial growth factor stimulus GO:0035924 8.96 FLT4 KDR
12 vascular endothelial growth factor signaling pathway GO:0038084 8.62 FLT4 KDR

Molecular functions related to Hemangioma, Capillary Infantile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.26 FLT4 KDR
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.16 FLT4 KDR
3 growth factor binding GO:0019838 8.96 FLT4 KDR
4 vascular endothelial growth factor-activated receptor activity GO:0005021 8.62 FLT4 KDR

Sources for Hemangioma, Capillary Infantile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....