Variegate porphyria

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:79473OMIM:176200E80.2
Who is this for?
Show terms as
7Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Also known as:

Clinical phenotype terms— hover any for plain English:

Abnormal circulating porphyrin concentrationHP:0010472PorphyrinuriaHP:0010473Increased urinary porphobilinogenHP:0012217TetraparesisHP:0002273Elevated urinary delta-aminolevulinic acidHP:0003163Motor polyneuropathyHP:0007178Proximal upper limb muscle weaknessHP:0008997Skin vesicleHP:0200037
Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Variegate porphyria.

View clinical trials →

No actively recruiting trials found for Variegate porphyria at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Variegate porphyria community →

Specialists

7 foundView all specialists →
RM
Robert J. Desnick, Ph.D., M.D.
NEW YORK, NY
Specialist
PI on 1 active trial
HM
Herbert L. Bonkovsky, M.D.
WINSTON SALEM, NC
Specialist
PI on 1 active trial
JM
James P. Kushner, M.D.
SALT LAKE CITY, UT
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Variegate porphyria.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Variegate porphyriaForum →

No community posts yet. Be the first to share your experience with Variegate porphyria.

Start the conversation →

Latest news about Variegate porphyria

No recent news articles for Variegate porphyria.

Follow this condition to be notified when news becomes available.

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.

Common questions about Variegate porphyria

Which specialists treat Variegate porphyria?

7 specialists and care centers treating Variegate porphyria are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.