Inherited renal cancer-predisposing syndrome

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:319328
Who is this for?
Show terms as
1Specialists8Treatment centers

Where are you in your journey?

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

Overview

Inherited renal cancer-predisposing syndrome (Orphanet code 319328) is a broad term for a group of hereditary conditions that significantly raise a person's lifetime risk of developing kidney (renal) cancer. Unlike most kidney cancers that occur by chance, these syndromes are caused by changes (mutations) in specific genes that are passed down through families. Because of this, multiple family members across generations may be affected. The kidneys are two bean-shaped organs that filter waste from the blood and produce urine. In these syndromes, abnormal gene changes can cause tumors to grow in one or both kidneys, sometimes at a younger age than typical kidney cancer and sometimes as multiple tumors. Depending on the specific syndrome involved, other parts of the body may also be affected, including the eyes, skin, brain, adrenal glands, and pancreas. This category includes several well-known syndromes such as Von Hippel-Lindau (VHL) disease, hereditary papillary renal cell carcinoma (HPRC), Birt-Hogg-Dubé syndrome (BHD), hereditary leiomyomatosis and renal cell cancer (HLRCC), and succinate dehydrogenase-related renal cancer. Treatment focuses on regular surveillance to catch tumors early, surgical removal of tumors when needed, and targeted drug therapies. Early detection through genetic testing and regular monitoring can greatly improve outcomes.

Key symptoms:

One or more tumors in the kidney, sometimes in both kidneysBlood in the urine (urine appears pink, red, or brown)Pain or a lump in the side or lower backUnexplained weight lossFatigue and feeling generally unwellHigh blood pressure that is hard to controlSkin growths, bumps, or unusual skin lesions (depending on the syndrome)Cysts in the kidneys, pancreas, or liverTumors in the adrenal glands (pheochromocytoma)Eye problems such as retinal tumors or vision changesTumors in the brain or spinal cord (in VHL disease)Uterine fibroids at a young age (in HLRCC)Lung cysts or collapsed lung (in Birt-Hogg-Dubé syndrome)

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Inherited renal cancer-predisposing syndrome.

View clinical trials →

No actively recruiting trials found for Inherited renal cancer-predisposing syndrome at this time.

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

Search ClinicalTrials.gov ↗Join the Inherited renal cancer-predisposing syndrome community →

Specialists

1 foundView all specialists →
PE
Peter F Ehrlich
ANN ARBOR, MI
Specialist
PI on 1 active trial5 Inherited renal cancer-predisposing syndrome publications

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 Inherited renal cancer-predisposing syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Inherited renal cancer-predisposing syndromeForum →

No community posts yet. Be the first to share your experience with Inherited renal cancer-predisposing syndrome.

Start the conversation →

Latest news about Inherited renal cancer-predisposing syndrome

No recent news articles for Inherited renal cancer-predisposing syndrome.

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.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which specific inherited renal cancer syndrome do I have, and which gene mutation was found?,How often do I need imaging scans, and which organs need to be monitored?,At what tumor size should I consider surgery or another treatment, and what are my options?,Should my children, siblings, and parents be tested for this gene mutation?,Am I a candidate for belzutifan or any other targeted medication?,Are there any clinical trials I should know about for my specific syndrome?,What lifestyle changes, if any, can help protect my kidney function long-term?

Common questions about Inherited renal cancer-predisposing syndrome

What is Inherited renal cancer-predisposing syndrome?

Inherited renal cancer-predisposing syndrome (Orphanet code 319328) is a broad term for a group of hereditary conditions that significantly raise a person's lifetime risk of developing kidney (renal) cancer. Unlike most kidney cancers that occur by chance, these syndromes are caused by changes (mutations) in specific genes that are passed down through families. Because of this, multiple family members across generations may be affected. The kidneys are two bean-shaped organs that filter waste from the blood and produce urine. In these syndromes, abnormal gene changes can cause tumors to grow

How is Inherited renal cancer-predisposing syndrome inherited?

Inherited renal cancer-predisposing syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Inherited renal cancer-predisposing syndrome typically begin?

Typical onset of Inherited renal cancer-predisposing syndrome is adult. Age of onset can vary across affected individuals.

Which specialists treat Inherited renal cancer-predisposing syndrome?

1 specialists and care centers treating Inherited renal cancer-predisposing syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.