Details of Disease

General Information of Disease (ID: DISOWZY5)

Disease Name Capillary infantile hemangioma
Synonyms hemangioma, capillary infantile; hereditary capillary infantile hemangioma; hemangioma, hereditary capillary; hemangioma, capillary infantile, somatic; HCI
Definition
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. 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, 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.
Disease Hierarchy
DISYKSRF: Genetic disease
DISQ8XPT: Capillary hemangioma
DISOWZY5: Capillary infantile hemangioma
Disease Identifiers
MONDO ID
MONDO_0011191
MESH ID
C535860
UMLS CUI
C1865871
OMIM ID
602089
MedGen ID
355573

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KDR TTUTJGQ Limited Genetic Variation [1]
FLT4 TTDCBX5 Strong Autosomal dominant [2]
FLT4 TTDCBX5 Strong Biomarker [3]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC39A14 DTZ6IJW Strong Genetic Variation [4]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANTXR1 OT5W1GPC Limited Autosomal dominant [5]
FLT4 OTRAA26B Strong Autosomal dominant [2]
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References

1 Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma.Nat Med. 2008 Nov;14(11):1236-46. doi: 10.1038/nm.1877. Epub 2008 Oct 19.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
3 Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma.Genes Chromosomes Cancer. 2002 Mar;33(3):295-303. doi: 10.1002/gcc.10028.
4 Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.PLoS Genet. 2018 Apr 5;14(4):e1007321. doi: 10.1371/journal.pgen.1007321. eCollection 2018 Apr.
5 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.