Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Capillary infantile hemangioma with germline mutation

Familial infantile capillary hemangioma is a common benign red skin tumor in newborns and infants. Inheritance is autosomal dominant. The disease is caused by mutations of the ANTXR1 and KDR genes.

Systematic

Capillary infantile hemangioma
Capillary infantile hemangioma
Capillary infantile hemangioma with germline mutation
FLT4
FLT4

References:

1.

Walter JW et. al. (2002) Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma.

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2.

Blei F et. al. (1998) Familial segregation of hemangiomas and vascular malformations as an autosomal dominant trait.

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3.

Walter JW et. al. (1999) Genetic mapping of a novel familial form of infantile hemangioma.

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4.

Breugem CC et. al. (2002) A locus for hereditary capillary malformations mapped on chromosome 5q.

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5.

Ritter MR et. al. (2002) Insulin-like growth factor 2 and potential regulators of hemangioma growth and involution identified by large-scale expression analysis.

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6.

Waner M et. al. (2003) The nonrandom distribution of facial hemangiomas.

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7.

Spring MA et. al. (2005) Cutaneous vascular lesions.

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8.

Pramanik K et. al. (2009) Dusp-5 and Snrk-1 coordinately function during vascular development and disease.

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9.

Jinnin M et. al. (2008) Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma.

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Update: Sept. 26, 2018