MCID: HMN027
MIFTS: 34

Hemangioma, Capillary Infantile

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

Aliases & Classifications for Hemangioma, Capillary Infantile

MalaCards integrated aliases for Hemangioma, Capillary Infantile:

Name: Hemangioma, Capillary Infantile 57 76 75 29 6 40
Hemangioma, Capillary Infantile, Somatic 57 13
Hci 57 75
Hemangioma, Capillary Infantile, Susceptibility to 57
Hemangioma, Hereditary Capillary 57
Hemangioma Hereditary Capillary 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant type
high penetrance


HPO:

32
hemangioma, capillary infantile:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 602089
MedGen 42 C1865871
MeSH 44 D018324

Summaries for Hemangioma, Capillary Infantile

OMIM : 57 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. 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 phenotypes are capillary hemangioma and no phenotypic analysis

UniProtKB/Swiss-Prot : 75 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 : 76 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 13)
# 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 capillary hemangioma 9.8 ANTXR1 KDR
6 hemangioendothelioma 9.5 FLT4 KDR
7 kaposiform hemangioendothelioma 9.4 FLT4 KDR
8 lymphangioma 9.4 FLT4 KDR
9 vascular cancer 9.3 FLT4 KDR
10 breast carcinoma in situ 9.2 FLT4 KDR
11 angiosarcoma 9.1 FLT4 KDR
12 renal cell carcinoma, nonpapillary 8.9 FLT4 KDR
13 hemangioma 8.9 ANTXR1 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:

57
Skin:
capillary hemangiomas

Misc:
most sporadic as single lesions


Clinical features from OMIM:

602089

Human phenotypes related to Hemangioma, Capillary Infantile:

32
# Description HPO Frequency HPO Source Accession
1 capillary hemangioma 32 HP:0005306

MGI Mouse Phenotypes related to Hemangioma, Capillary Infantile:

46
# 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 29 ANTXR1 FLT4 KDR

Anatomical Context for Hemangioma, Capillary Infantile

MalaCards organs/tissues related to Hemangioma, Capillary Infantile:

41
Endothelial, Skin

Publications for Hemangioma, Capillary Infantile

Variations for Hemangioma, Capillary Infantile

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

75
# 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 ANTXR1 NM_032208.2(ANTXR1): c.976G> A (p.Ala326Thr) single nucleotide variant risk factor rs119475040 GRCh37 Chromosome 2, 69379325: 69379325
2 ANTXR1 NM_032208.2(ANTXR1): c.976G> A (p.Ala326Thr) single nucleotide variant risk factor rs119475040 GRCh38 Chromosome 2, 69152193: 69152193
3 KDR NM_002253.2(KDR): c.3439C> T (p.Pro1147Ser) single nucleotide variant Pathogenic rs121917766 GRCh37 Chromosome 4, 55955106: 55955106
4 KDR NM_002253.2(KDR): c.3439C> T (p.Pro1147Ser) single nucleotide variant Pathogenic rs121917766 GRCh38 Chromosome 4, 55088939: 55088939
5 KDR NM_002253.3(KDR): c.3848+15T> C single nucleotide variant Benign rs2412617 GRCh38 Chromosome 4, 55081941: 55081941
6 KDR NM_002253.3(KDR): c.3848+15T> C single nucleotide variant Benign rs2412617 GRCh37 Chromosome 4, 55948108: 55948108
7 MYH9 NM_002473.5(MYH9): c.5308C> T (p.Arg1770Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 36285296: 36285296
8 MYH9 NM_002473.5(MYH9): c.5308C> T (p.Arg1770Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 36681342: 36681342

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 GRCh38 Location Conf
1 COSM52975 GNAQ soft tissue,blood vessel,other,vascular malformation c.548G>A p.R183Q 9:77797577-77797577 2
2 COSM5945938 GNAQ soft tissue,blood vessel,other,vascular malformation c.548G>T p.R183L 9:77797577-77797577 2

Expression for Hemangioma, Capillary Infantile

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

Pathways for Hemangioma, Capillary Infantile

GO Terms for Hemangioma, Capillary Infantile

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.62 FLT4 KDR

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.55 FLT4 KDR
2 angiogenesis GO:0001525 9.54 FLT4 KDR
3 protein autophosphorylation GO:0046777 9.52 FLT4 KDR
4 peptidyl-tyrosine phosphorylation GO:0018108 9.51 FLT4 KDR
5 positive regulation of protein phosphorylation GO:0001934 9.49 FLT4 KDR
6 positive regulation of MAPK cascade GO:0043410 9.48 FLT4 KDR
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.46 FLT4 KDR
8 negative regulation of signal transduction GO:0009968 9.43 FLT4 KDR
9 positive regulation of kinase activity GO:0033674 9.4 FLT4 KDR
10 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.37 FLT4 KDR
11 positive regulation of endothelial cell proliferation GO:0001938 9.32 FLT4 KDR
12 vasculogenesis GO:0001570 9.26 FLT4 KDR
13 positive regulation of endothelial cell migration GO:0010595 9.16 FLT4 KDR
14 cellular response to vascular endothelial growth factor stimulus GO:0035924 8.96 FLT4 KDR
15 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 9.4 FLT4 KDR
2 MAP kinase kinase kinase activity GO:0004709 9.37 FLT4 KDR
3 mitogen-activated protein kinase kinase binding GO:0031434 9.32 FLT4 KDR
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 FLT4 KDR
5 growth factor binding GO:0019838 9.16 FLT4 KDR
6 transmembrane signaling receptor activity GO:0004888 9.13 ANTXR1 FLT4 KDR
7 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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