HCI
MCID: HMN027
MIFTS: 38

Hemangioma, Capillary Infantile (HCI)

Categories: Cardiovascular diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Hemangioma, Capillary Infantile

MalaCards integrated aliases for Hemangioma, Capillary Infantile:

Name: Hemangioma, Capillary Infantile 57 73 72 29 6 39
Hemangioma, Capillary Infantile, Somatic 57 13
Hci 57 72
Hemangioma, Capillary Infantile, Susceptibility to 57
Hemangioma, Hereditary Capillary 57
Hemangioma Hereditary Capillary 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant type
high penetrance


HPO:

31
hemangioma, capillary infantile:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 602089
MeSH 44 D018324
MedGen 41 C1865871

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) (Updated 20-May-2021)

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 PAK Pathway and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include endothelial, breast and bone, and related phenotypes are capillary hemangioma and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 72 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 : 73 An infantile hemangioma (IH) is a type of benign vascular tumor that affects babies. They appear as a... more...

Related Diseases for Hemangioma, Capillary Infantile

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



Diseases related to Hemangioma, Capillary Infantile

Symptoms & Phenotypes for Hemangioma, Capillary Infantile

Human phenotypes related to Hemangioma, Capillary Infantile:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin:
capillary hemangiomas

Misc:
most sporadic as single lesions

Clinical features from OMIM®:

602089 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.32 MYH9
2 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.32 MYH9
3 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.32 ANTXR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.32 MYH9
5 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.32 MYH9
6 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.32 ANTXR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.32 ANTXR1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.32 MYH9
9 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.32 MYH9
10 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.32 ANTXR1

MGI Mouse Phenotypes related to Hemangioma, Capillary Infantile:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 ANTXR1 FLT4 KDR MYH9
2 no phenotypic analysis MP:0003012 8.92 ANTXR1 FLT4 KDR MYH9

Drugs & Therapeutics for Hemangioma, Capillary Infantile

Search Clinical Trials , 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:

40
Endothelial, Breast, Bone, Prostate

Publications for Hemangioma, Capillary Infantile

Articles related to Hemangioma, Capillary Infantile:

# Title Authors PMID Year
1
Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma. 6 57
18931684 2008
2
Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma. 6 57
11807987 2002
3
Dusp-5 and Snrk-1 coordinately function during vascular development and disease. 57
18927432 2009
4
Classification, diagnosis, and interventional radiologic management of vascular malformations. 57
16846771 2006
5
Cutaneous vascular lesions. 57
15814115 2005
6
The nonrandom distribution of facial hemangiomas. 57
12873881 2003
7
Insulin-like growth factor 2 and potential regulators of hemangioma growth and involution identified by large-scale expression analysis. 57
12032304 2002
8
A locus for hereditary capillary malformations mapped on chromosome 5q. 57
11941483 2002
9
Genetic mapping of a novel familial form of infantile hemangioma. 57
9916848 1999
10
Familial segregation of hemangiomas and vascular malformations as an autosomal dominant trait. 57
9645641 1998

Variations for Hemangioma, Capillary Infantile

ClinVar genetic disease variations for Hemangioma, Capillary Infantile:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KDR NM_002253.3(KDR):c.3439C>T (p.Pro1147Ser) SNV Pathogenic 12317 rs121917766 GRCh37: 4:55955106-55955106
GRCh38: 4:55088939-55088939
2 FLT4 NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) SNV Pathogenic 16264 rs34255532 GRCh37: 5:180045911-180045911
GRCh38: 5:180618911-180618911
3 ANTXR1 NM_032208.2(ANTXR1):c.976G>A (p.Ala326Thr) SNV risk factor 4390 rs119475040 GRCh37: 2:69379325-69379325
GRCh38: 2:69152193-69152193
4 MYH9 NM_002473.5(MYH9):c.5308C>T (p.Arg1770Cys) SNV Likely pathogenic 545478 rs1430793034 GRCh37: 22:36681342-36681342
GRCh38: 22:36285296-36285296
5 KDR NM_002253.3(KDR):c.1444T>C (p.Cys482Arg) SNV risk factor 12318 rs34231037 GRCh37: 4:55972946-55972946
GRCh38: 4:55106779-55106779
6 KDR NM_002253.3(KDR):c.3848+15T>C SNV Benign 518355 rs2412617 GRCh37: 4:55948108-55948108
GRCh38: 4:55081941-55081941

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

72
# 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

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 MYH9 KDR FLT4
2
Show member pathways
12.33 MYH9 KDR FLT4
3 11.65 KDR FLT4
4
Show member pathways
11.52 MYH9 KDR
5
Show member pathways
11.51 MYH9 KDR FLT4
6
Show member pathways
11.4 KDR FLT4
7 11.35 KDR FLT4
8
Show member pathways
11.29 KDR FLT4
9 10.89 KDR FLT4
10
Show member pathways
10.69 KDR FLT4
11
Show member pathways
9.83 KDR FLT4

GO Terms for Hemangioma, Capillary Infantile

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein autophosphorylation GO:0046777 9.54 KDR FLT4
2 regulation of cell shape GO:0008360 9.52 MYH9 KDR
3 peptidyl-tyrosine phosphorylation GO:0018108 9.51 KDR FLT4
4 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.49 KDR FLT4
5 positive regulation of MAPK cascade GO:0043410 9.48 KDR FLT4
6 positive regulation of kinase activity GO:0033674 9.46 KDR FLT4
7 positive regulation of endothelial cell proliferation GO:0001938 9.43 KDR FLT4
8 positive regulation of endothelial cell migration GO:0010595 9.4 KDR FLT4
9 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.37 KDR FLT4
10 hematopoietic progenitor cell differentiation GO:0002244 9.32 KDR FLT4
11 actin cytoskeleton reorganization GO:0031532 9.26 MYH9 ANTXR1
12 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.16 KDR FLT4
13 angiogenesis GO:0001525 9.13 MYH9 KDR FLT4
14 vascular endothelial growth factor signaling pathway GO:0038084 8.62 KDR FLT4

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.32 MYH9 KDR
2 protein tyrosine kinase activity GO:0004713 9.26 KDR FLT4
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.16 KDR FLT4
4 growth factor binding GO:0019838 8.96 KDR FLT4
5 vascular endothelial growth factor-activated receptor activity GO:0005021 8.62 KDR FLT4

Sources for Hemangioma, Capillary Infantile

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