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EPHB4-associated vascular malformation spectrum

MONDO:0700080

Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.

6 clinical trials for this condition and its sub-types.

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Sub-types

Capillary malformation-arteriovenous malformation 2 (0) Lymphatic malformation 7 (0)

Broader categories

Cardiovascular disorder (1051) Disease (680) Hereditary disease (176) Vascular disorder (135) Vascular malformation (31) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)

Not yet recruiting 2 Not yet finished but already full! 1 Completed 2 Terminated 1

Could a cream replace pills for painful birthmarks? early trial hints at possibility

Disease control Terminated

This early-phase study tested a sirolimus (rapamycin) cream applied directly to skin lesions in children with vascular anomalies. The goal was to see if the cream could safely reduce pain, bleeding, and lesion size without the side effects of oral medication. Only 5 children were…

Phase: PHASE1 • Sponsor: Nemours Children's Clinic • Aim: Disease control

Last updated Jun 27, 2026 08:07 UTC