Details of Disease

General Information of Disease (ID: DISQ8XPT)

Disease Name Capillary hemangioma
Synonyms
juvenile hemangioma; infantile hemangioma; cellular hemangioma of infancy (strawberry nevus); cellular hemangioma of infancy; strawberry nevus of skin; strawberry nevus; strawberry haemangioma; congenital vascular naevus; congenital vascular hamartoma; capillary hemangioma (morphologic abnormality); capillary hemangioma; capillary angioma
Definition A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.
Disease Hierarchy
DISDCGAG: Hemangioma
DISQ8XPT: Capillary hemangioma
Disease Identifiers
MONDO ID
MONDO_0002407
MESH ID
D018324
UMLS CUI
C0206733
MedGen ID
64643
HPO ID
HP:0005306
SNOMED CT ID
254206003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 8 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RASA1 TTPNZ1F Limited Genetic Variation [1]
CPA1 TT3LJ6G Strong Biomarker [2]
CTCFL TTY0RZT Strong Biomarker [3]
FSHR TTZFDBT Strong Biomarker [4]
GNAQ TTL1SRG Strong Genetic Variation [5]
MAG TT9XFON Strong Biomarker [6]
MAP3K3 TTJZNIG Strong Biomarker [7]
PORCN TTNFBTO Strong Biomarker [8]
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⏷ Show the Full List of 8 DTT(s)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SOX18 OTPUMHWA Limited Biomarker [9]
C1GALT1C1 OTRTZUF5 Strong Biomarker [10]
ECSCR OT9L72MD Strong Altered Expression [11]
PAPLN OTCJD85N Strong Biomarker [8]
SEMA3E OTD4S36H Strong Biomarker [12]
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References

1 Clinical and genetic findings in children with central nervous system arteriovenous fistulas.Ann Neurol. 2017 Dec;82(6):972-980. doi: 10.1002/ana.25106. Epub 2017 Dec 12.
2 Quantitative Evaluation of Percutaneous Local Drug Perfusion Against Refractory Infantile Hemangioma via 3-D Power Doppler Angiography.Ultrasound Med Biol. 2020 Mar;46(3):610-619. doi: 10.1016/j.ultrasmedbio.2019.11.002. Epub 2019 Dec 3.
3 A Common Polymorphism within the IGF2 Imprinting Control Region Is Associated with Parent of Origin Specific Effects in Infantile Hemangiomas.PLoS One. 2015 Oct 23;10(10):e0113168. doi: 10.1371/journal.pone.0113168. eCollection 2015.
4 Analysis of Follicle-Stimulating Hormone Receptor in Infantile Hemangioma.Ann Plast Surg. 2018 Apr;80(4 Suppl 4):S211-S213. doi: 10.1097/SAP.0000000000001438.
5 GNAQ Mutations in Diffuse and Solitary Choroidal Hemangiomas.Ophthalmology. 2019 May;126(5):759-763. doi: 10.1016/j.ophtha.2018.12.011. Epub 2018 Dec 8.
6 Infantile Hemangioma with Minimal or Arrested Growth: Further Observations on Clinical and Histopathologic Findings of this Unique but Underrecognized Entity.Pediatr Dermatol. 2017 Jan;34(1):64-71. doi: 10.1111/pde.13022. Epub 2016 Nov 22.
7 LncRNA-MALAT1 promotes tumorogenesis of infantile hemangioma by competitively binding miR-424 to stimulate MEKK3/NF-B pathway.Life Sci. 2019 Dec 15;239:116946. doi: 10.1016/j.lfs.2019.116946. Epub 2019 Oct 11.
8 PLGA nanoparticles with CD133 aptamers for targeted delivery and sustained release of propranolol to hemangioma.Nanomedicine (Lond). 2017 Nov;12(21):2611-2624. doi: 10.2217/nnm-2017-0130. Epub 2017 Sep 29.
9 R-propranolol is a small molecule inhibitor of the SOX18 transcription factor in a rare vascular syndrome and hemangioma.Elife. 2019 Jul 30;8:e43026. doi: 10.7554/eLife.43026.
10 COSMC is overexpressed in proliferating infantile hemangioma and enhances endothelial cell growth via VEGFR2.PLoS One. 2013;8(2):e56211. doi: 10.1371/journal.pone.0056211. Epub 2013 Feb 12.
11 Endothelial cell-specific chemotaxis receptor (ECSCR) enhances vascular endothelial growth factor (VEGF) receptor-2/kinase insert domain receptor (KDR) activation and promotes proteolysis of internalized KDR.J Biol Chem. 2013 Apr 12;288(15):10265-74. doi: 10.1074/jbc.M112.413542. Epub 2013 Feb 7.
12 Infantile hemangioma-derived stem cells and endothelial cells are inhibited by class 3 semaphorins.Biochem Biophys Res Commun. 2015 Aug 14;464(1):126-32. doi: 10.1016/j.bbrc.2015.06.087. Epub 2015 Jun 15.