HCI
MCID: HMN027
MIFTS: 39

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 58 77 76 30 6 41
Hemangioma, Capillary Infantile, Somatic 58 13
Hci 58 76
Hemangioma, Capillary Infantile, Susceptibility to 58
Hemangioma, Hereditary Capillary 58
Hemangioma Hereditary Capillary 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant type
high penetrance


HPO:

33
hemangioma, capillary infantile:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 602089
MeSH 45 D018324
MedGen 43 C1865871

Summaries for Hemangioma, Capillary Infantile

OMIM : 58 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 PAK Pathway and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include skin, endothelial and heart, and related phenotypes are capillary hemangioma and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 76 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 : 77 Infantile hemangiomas (IH) are a type of benign vascular tumor that occur in babies. They appear as a... 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 19)
# Related Disease Score Top Affiliating Genes
1 allergic conjunctivitis 10.2
2 conjunctivitis 10.2
3 heparin-induced thrombocytopenia 10.2
4 breast cancer 10.0
5 multiple sclerosis 10.0
6 anxiety 10.0
7 secondary hyperparathyroidism 10.0
8 hyperparathyroidism 10.0
9 disease of mental health 10.0
10 depression 10.0
11 hemangioendothelioma 9.9 FLT4 KDR
12 kaposiform hemangioendothelioma 9.9 FLT4 KDR
13 malignant epithelioid hemangioendothelioma 9.9 FLT4 KDR
14 malignant hemangioma 9.8 FLT4 KDR
15 lymphangioma 9.8 FLT4 KDR
16 capillary hemangioma 9.7 ANTXR1 KDR
17 vascular cancer 9.7 FLT4 KDR
18 angiosarcoma 9.6 FLT4 KDR
19 hemangioma 9.4 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

Human phenotypes related to Hemangioma, Capillary Infantile:

33
# Description HPO Frequency HPO Source Accession
1 capillary hemangioma 33 HP:0005306

Symptoms via clinical synopsis from OMIM:

58
Skin:
capillary hemangiomas

Misc:
most sporadic as single lesions

Clinical features from OMIM:

602089

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.36 MYH9
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.36 MYH9
3 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.36 MYH9
4 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.36 MYH9
5 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.36 MYH9
6 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.36 ANTXR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.36 MYH9
8 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.36 ANTXR1 MYH9
9 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.36 ANTXR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.36 MYH9

MGI Mouse Phenotypes related to Hemangioma, Capillary Infantile:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.46 ANTXR1 FLT4 KDR MYH9
2 immune system MP:0005387 9.26 ANTXR1 FLT4 KDR MYH9
3 no phenotypic analysis MP:0003012 8.92 ANTXR1 FLT4 KDR MYH9

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 30 ANTXR1 FLT4 KDR

Anatomical Context for Hemangioma, Capillary Infantile

MalaCards organs/tissues related to Hemangioma, Capillary Infantile:

42
Skin, Endothelial, Heart, Breast

Publications for Hemangioma, Capillary Infantile

Articles related to Hemangioma, Capillary Infantile:

# Title Authors Year
1
Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma. ( 18931684 )
2008
2
Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma. ( 11807987 )
2002

Variations for Hemangioma, Capillary Infantile

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

76
# 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 (show all 12)
# 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_002253.3(KDR): c.3439C> T (p.Pro1147Ser) single nucleotide variant Pathogenic rs121917766 GRCh37 Chromosome 4, 55955106: 55955106
4 KDR NM_002253.3(KDR): c.3439C> T (p.Pro1147Ser) single nucleotide variant Pathogenic rs121917766 GRCh38 Chromosome 4, 55088939: 55088939
5 KDR NM_002253.3(KDR): c.1444T> C (p.Cys482Arg) single nucleotide variant Likely benign rs34231037 GRCh37 Chromosome 4, 55972946: 55972946
6 KDR NM_002253.3(KDR): c.1444T> C (p.Cys482Arg) single nucleotide variant Likely benign rs34231037 GRCh38 Chromosome 4, 55106779: 55106779
7 FLT4 NM_182925.4(FLT4): c.2860C> T (p.Pro954Ser) single nucleotide variant Benign rs34255532 GRCh37 Chromosome 5, 180045911: 180045911
8 FLT4 NM_182925.4(FLT4): c.2860C> T (p.Pro954Ser) single nucleotide variant Benign rs34255532 GRCh38 Chromosome 5, 180618911: 180618911
9 KDR NM_002253.3(KDR): c.3848+15T> C single nucleotide variant Benign rs2412617 GRCh38 Chromosome 4, 55081941: 55081941
10 KDR NM_002253.3(KDR): c.3848+15T> C single nucleotide variant Benign rs2412617 GRCh37 Chromosome 4, 55948108: 55948108
11 MYH9 NM_002473.5(MYH9): c.5308C> T (p.Arg1770Cys) single nucleotide variant Likely pathogenic rs1430793034 GRCh38 Chromosome 22, 36285296: 36285296
12 MYH9 NM_002473.5(MYH9): c.5308C> T (p.Arg1770Cys) single nucleotide variant Likely pathogenic rs1430793034 GRCh37 Chromosome 22, 36681342: 36681342

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 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.52 FLT4 KDR
2 peptidyl-tyrosine phosphorylation GO:0018108 9.51 FLT4 KDR
3 protein autophosphorylation GO:0046777 9.49 FLT4 KDR
4 regulation of cell shape GO:0008360 9.48 KDR MYH9
5 positive regulation of MAPK cascade GO:0043410 9.46 FLT4 KDR
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.43 FLT4 KDR
7 positive regulation of endothelial cell proliferation GO:0001938 9.4 FLT4 KDR
8 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.37 FLT4 KDR
9 actin cytoskeleton reorganization GO:0031532 9.32 ANTXR1 MYH9
10 positive regulation of endothelial cell migration GO:0010595 9.26 FLT4 KDR
11 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.16 FLT4 KDR
12 angiogenesis GO:0001525 9.13 FLT4 KDR MYH9
13 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 actin filament binding GO:0051015 9.4 ANTXR1 MYH9
2 protein tyrosine kinase activity GO:0004713 9.37 FLT4 KDR
3 integrin binding GO:0005178 9.32 KDR MYH9
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 8.65 ANTXR1
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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