Overview
A rare genetic vascular tumor is an uncommon growth that develops from blood vessels or lymph vessels in the body. This condition falls under Orphanet code 459543 and represents a group of tumors that arise because of changes (mutations) in certain genes that control how blood vessels grow and form. These tumors can appear in different parts of the body, including the skin, soft tissues, bones, or internal organs. They may look like lumps, discolored patches, or swollen areas, and they can range from slow-growing and harmless to more aggressive forms that affect nearby tissues. Symptoms depend on where the tumor is located and how fast it grows. Some people notice a painless lump or skin discoloration, while others may experience pain, swelling, or problems with the function of nearby organs. In some cases, these tumors can cause bleeding or problems with blood clotting. Treatment depends on the type, size, and location of the tumor. Options may include surgery to remove the tumor, medications that target blood vessel growth (anti-angiogenic drugs), sclerotherapy (injecting a substance to shrink the tumor), or other targeted therapies. Because these tumors are rare, care is best managed by a team of specialists experienced with vascular anomalies. Research is ongoing to better understand the genetic causes and develop more effective treatments.
Key symptoms:
Unusual lump or mass under the skin or in deeper tissuesSkin discoloration such as red, blue, or purple patchesSwelling in the affected areaPain or tenderness near the tumorBleeding from the tumor or surrounding areaProblems with blood clottingFatigue or tirednessLow platelet countsDifficulty moving a limb if the tumor is near a jointEnlarged veins near the tumorWarmth over the affected areaGrowth of the mass over timeCompression of nearby organs causing functional problems
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Rare genetic vascular tumor.
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Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Rare genetic vascular tumor.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of vascular tumor does my child or I have, and what gene might be involved?,What treatment options are available, and what are the risks and benefits of each?,How often will we need imaging or blood tests to monitor the tumor?,Are there any clinical trials or new therapies that might be appropriate?,What signs or symptoms should prompt an emergency visit?,Will this condition affect growth, development, or daily activities?,Should other family members be tested for the genetic change?
Common questions about Rare genetic vascular tumor
What is Rare genetic vascular tumor?
A rare genetic vascular tumor is an uncommon growth that develops from blood vessels or lymph vessels in the body. This condition falls under Orphanet code 459543 and represents a group of tumors that arise because of changes (mutations) in certain genes that control how blood vessels grow and form. These tumors can appear in different parts of the body, including the skin, soft tissues, bones, or internal organs. They may look like lumps, discolored patches, or swollen areas, and they can range from slow-growing and harmless to more aggressive forms that affect nearby tissues. Symptoms depen
Which specialists treat Rare genetic vascular tumor?
9 specialists and care centers treating Rare genetic vascular tumor are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.