Disorder with multisystemic involvement and glomerulopathy

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ORPHA:567562
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8Treatment centers

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Overview

Disorder with multisystemic involvement and glomerulopathy (Orphanet code 567562) is a rare genetic condition that affects multiple organ systems in the body, with a particular focus on the kidneys. The term 'glomerulopathy' refers to damage to the tiny filtering units inside the kidneys called glomeruli. When these filters are damaged, the kidneys cannot properly clean the blood, which can lead to protein leaking into the urine, swelling, and over time, kidney failure. Because this disorder is 'multisystemic,' it does not stop at the kidneys — it can also affect other parts of the body, though the exact combination of symptoms can vary from person to person. This condition is considered ultra-rare, and detailed clinical information is still being gathered by researchers and clinicians worldwide. Because it sits at the intersection of kidney disease and broader systemic illness, patients are typically cared for by a team of specialists. Early recognition of kidney involvement is especially important, as catching and managing kidney disease early can help slow its progression. Treatment is generally focused on managing symptoms and protecting kidney function, as no specific cure is currently available for most patients with this type of condition.

Key symptoms:

Protein in the urine (foamy or bubbly urine)Swelling in the legs, ankles, or around the eyesHigh blood pressureDeclining kidney function over timeFatigue and low energyBlood in the urine (urine may look pink, red, or brown)Involvement of other organ systems beyond the kidneys

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Disorder with multisystemic involvement and glomerulopathy.

View clinical trials →

No actively recruiting trials found for Disorder with multisystemic involvement and glomerulopathy at this time.

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Search ClinicalTrials.gov ↗Join the Disorder with multisystemic involvement and glomerulopathy community →

No specialists are currently listed for Disorder with multisystemic involvement and glomerulopathy.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 Disorder with multisystemic involvement and glomerulopathy.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Disorder with multisystemic involvement and glomerulopathy

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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.Which specific gene or genes might be causing this condition in my case, and should I have genetic testing?,How quickly is my kidney function declining, and what can we do to slow it down?,Which other organs should we be monitoring, and how often?,Are there any clinical trials or research studies I might be eligible to join?,What dietary changes should I make to protect my kidneys?,At what point would dialysis or a kidney transplant be considered, and how do we plan for that?,Should other family members be tested or screened for this condition?

Common questions about Disorder with multisystemic involvement and glomerulopathy

What is Disorder with multisystemic involvement and glomerulopathy?

Disorder with multisystemic involvement and glomerulopathy (Orphanet code 567562) is a rare genetic condition that affects multiple organ systems in the body, with a particular focus on the kidneys. The term 'glomerulopathy' refers to damage to the tiny filtering units inside the kidneys called glomeruli. When these filters are damaged, the kidneys cannot properly clean the blood, which can lead to protein leaking into the urine, swelling, and over time, kidney failure. Because this disorder is 'multisystemic,' it does not stop at the kidneys — it can also affect other parts of the body, thoug