HCI
MCID: HMN027
MIFTS: 38

Hemangioma, Capillary Infantile (HCI)

Categories: Cardiovascular diseases, Genetic diseases, Skin diseases
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Aliases & Classifications for Hemangioma, Capillary Infantile

MalaCards integrated aliases for Hemangioma, Capillary Infantile:

Name: Hemangioma, Capillary Infantile 57 75 73 12 38
Capillary Infantile Hemangioma 28 5
Hci 57 73
Hemangioma, Capillary Infantile, Susceptibility to 57
Hemangioma, Capillary Infantile, Somatic 57
Hemangioma, Hereditary Capillary 57
Hemangioma Hereditary Capillary 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
most sporadic as single lesions
associated with somatic mutation in kdr and flt4
one patient has been reported with germline mutation in antxr1


Classifications:



External Ids:

OMIM® 57 602089
MeSH 43 D018324
MedGen 40 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 08-Dec-2022)

MalaCards based summary: Hemangioma, Capillary Infantile, also known as capillary infantile hemangioma, is related to breast angiosarcoma and angiosarcoma. An important gene associated with Hemangioma, Capillary Infantile is KDR (Kinase Insert Domain Receptor), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and Signaling by Receptor Tyrosine Kinases. Affiliated tissues include endothelial, skin and liver, and related phenotypes are capillary hemangioma and no phenotypic analysis

UniProtKB/Swiss-Prot: 73 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: 75 An infantile hemangioma (IH), sometimes called a strawberry mark due to appearance, is a type of benign... 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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 breast angiosarcoma 10.0 KDR FLT4
2 angiosarcoma 10.0 KDR FLT4
3 major depressive disorder 10.0
4 allergic conjunctivitis 10.0
5 conjunctivitis 10.0
6 lymphangioma 10.0 KDR FLT4
7 vascular cancer 9.9 KDR FLT4
8 capillary disease 9.9 KDR ANTXR1
9 hyperparathyroidism 1 9.9
10 parkinson disease, late-onset 9.9
11 prostate cancer 9.9
12 factor vii deficiency 9.9
13 prostate cancer, hereditary, 8 9.9
14 ascaris lumbricoides infection 9.9
15 anxiety 9.9
16 endometrial cancer 9.9
17 prostate cancer, hereditary, 6 9.9
18 ewing sarcoma 9.9
19 sarcoma 9.9
20 pertussis 9.9
21 secondary hyperparathyroidism 9.9
22 reading disorder 9.9
23 hyperparathyroidism 9.9
24 disease of mental health 9.9
25 endogenous depression 9.9
26 bone cancer 9.9
27 impotence 9.9
28 substance abuse 9.9
29 bipolar disorder 9.9
30 mood disorder 9.9
31 purpura 9.9
32 superior mesenteric artery syndrome 9.9
33 gastritis 9.9
34 sleep disorder 9.9
35 panic disorder 9.9
36 severe combined immunodeficiency 9.9
37 neuroblastoma 9.9
38 pityriasis rosea 9.9
39 hypereosinophilic syndrome 9.9
40 exudative vitreoretinopathy 1 9.8 KDR FLT4
41 angiokeratoma circumscriptum 9.8 RASA1 KDR
42 arteriovenous malformation 9.8 RASA1 KDR
43 hemangioma 9.8 KDR FLT4 ANTXR1
44 capillary lymphangioma 9.8 RASA1 FLT4
45 angioosteohypertrophic syndrome 9.7 RASA1 CCNH
46 basal cell carcinoma, multiple 9.7 RASA1 CCNH
47 telangiectasia, hereditary hemorrhagic, type 1 9.7 RASA1 CCNH
48 kaposi sarcoma 9.7 KDR FLT4
49 basal cell carcinoma 1 9.7 RASA1 CCNH
50 capillary malformation-arteriovenous malformation 1 9.7 RASA1 CCNH

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 capillary hemangioma 30 Very rare (1%) HP:0005306

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular:
capillary hemangiomas

Skin Nails Hair Skin:
capillary hemangiomas

Clinical features from OMIM®:

602089 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Hemangioma, Capillary Infantile:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.02 ANTXR1 FLT4 KDR MYH9 RASA1

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 Unknown status 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 Capillary Infantile Hemangioma 28 ANTXR1 FLT4 KDR

Anatomical Context for Hemangioma, Capillary Infantile

Organs/tissues related to Hemangioma, Capillary Infantile:

MalaCards : Endothelial, Skin, Liver, Heart

Publications for Hemangioma, Capillary Infantile

Articles related to Hemangioma, Capillary Infantile:

(show all 12)
# Title Authors PMID Year
1
Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma. 57 5
18931684 2008
2
Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma. 57 5
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
11
[Cryosurgery in dermatology]. 62
26497955 2015
12
Orbital masses: CT and MRI of common vascular lesions, benign tumors, and malignancies. 62
23961022 2012

Variations for Hemangioma, Capillary Infantile

ClinVar genetic disease variations for Hemangioma, Capillary Infantile:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KDR NM_002253.4(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 RASA1, CCNH NM_002890.3(RASA1):c.1657dup (p.Tyr553fs) DUP Pathogenic
1691335 GRCh37: 5:86665674-86665675
GRCh38: 5:87369857-87369858
4 KDR NM_002253.4(KDR):c.1444T>C (p.Cys482Arg) SNV Risk Factor
12318 rs34231037 GRCh37: 4:55972946-55972946
GRCh38: 4:55106779-55106779
5 MYH9 NM_002473.6(MYH9):c.5308C>T (p.Arg1770Cys) SNV Likely Pathogenic
545478 rs1430793034 GRCh37: 22:36681342-36681342
GRCh38: 22:36285296-36285296
6 ANTXR1 NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr) SNV Risk Factor
4390 rs119475040 GRCh37: 2:69379325-69379325
GRCh38: 2:69152193-69152193
7 FAT4 NM_001291303.3(FAT4):c.9273C>A (p.Phe3091Leu) SNV Uncertain Significance
1691351 GRCh37: 4:126371438-126371438
GRCh38: 4:125450283-125450283
8 FAT4 NM_001291303.3(FAT4):c.13985C>G (p.Ala4662Gly) SNV Uncertain Significance
1691352 GRCh37: 4:126411956-126411956
GRCh38: 4:125490801-125490801
9 KDR NM_002253.4(KDR):c.3006G>C (p.Leu1002Phe) SNV Uncertain Significance
1710210 GRCh37: 4:55958847-55958847
GRCh38: 4:55092680-55092680
10 KDR NM_002253.4(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:

73
# 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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 MYH9 KDR FLT4
2 12.43 RASA1 KDR FLT4
3
Show member pathways
11.94 RASA1 KDR FLT4
4
Show member pathways
11.92 MYH9 KDR FLT4
5
Show member pathways
11.75 RASA1 KDR FLT4
6 11.59 RASA1 KDR FLT4
7
Show member pathways
11.52 KDR FLT4
8 11.5 KDR FLT4
9
Show member pathways
11.42 KDR FLT4
10
Show member pathways
11.38 RASA1 MYH9
11 11.09 KDR FLT4
12
Show member pathways
10.96 KDR FLT4
13 10.94 KDR FLT4
14 10.64 RASA1 KDR
15
Show member pathways
10.16 KDR FLT4
16 9.53 KDR FLT4

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 9.91 MYH9 KDR FLT4
2 vasculogenesis GO:0001570 9.81 RASA1 KDR
3 actin cytoskeleton reorganization GO:0031532 9.8 MYH9 ANTXR1
4 lung alveolus development GO:0048286 9.78 KDR FLT4
5 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.71 KDR FLT4
6 regulation of cell shape GO:0008360 9.63 RASA1 MYH9 KDR
7 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.62 KDR FLT4
8 blood vessel morphogenesis GO:0048514 9.56 RASA1 FLT4
9 regulation of MAPK cascade GO:0043408 9.46 KDR FLT4
10 positive regulation of phosphorylation GO:0042327 9.37 FLT4 KDR
11 vascular endothelial growth factor signaling pathway GO:0038084 9.26 KDR FLT4
12 lymph vessel development GO:0001945 8.92 KDR FLT4

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.46 KDR FLT4
2 growth factor binding GO:0019838 9.26 KDR FLT4
3 vascular endothelial growth factor receptor activity GO:0005021 8.92 KDR FLT4

Sources for Hemangioma, Capillary Infantile

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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