OBSOLETE: Hereditary iron overload with neurologic manifestation

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ORPHA:140428
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Overview

Hereditary iron overload with neurologic manifestation is a very rare genetic condition that has been classified as 'obsolete' in medical databases, meaning the term is no longer actively used as a standalone diagnosis. This condition was originally described to capture cases where the body absorbs and stores too much iron (iron overload), and this excess iron deposits in the brain and nervous system, leading to neurological problems. The term has largely been replaced by more specific diagnoses as medical understanding has improved. When iron builds up in the brain and nervous system, it can cause movement difficulties, cognitive decline, speech problems, and other neurological symptoms. Iron overload can also damage the liver, heart, and other organs. The condition is inherited, meaning it runs in families through changes (mutations) in specific genes involved in iron metabolism or brain iron handling. Because this is now considered an obsolete classification, patients who were previously given this diagnosis may now fall under more specific conditions such as neurodegeneration with brain iron accumulation (NBIA), aceruloplasminemia, or neuroferritinopathy. If you or a family member received this diagnosis, it is important to work with a geneticist to determine the precise underlying condition, as treatment and management strategies differ depending on the specific diagnosis. Treatments may include iron chelation therapy (medications that help remove excess iron from the body), supportive neurological care, and management of organ damage caused by iron deposits.

Key symptoms:

Excessive iron buildup in the bodyMovement problems such as tremor or stiffnessDifficulty walking or balance problemsCognitive decline or memory problemsSpeech difficultiesInvoluntary movements (dystonia or chorea)Fatigue and low energyLiver damage or enlargementDiabetes from iron damage to the pancreasVision problemsDepression or mood changesDifficulty swallowingJoint pain

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 OBSOLETE: Hereditary iron overload with neurologic manifestation.

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No specialists are currently listed for OBSOLETE: Hereditary iron overload with neurologic manifestation.

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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

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Questions for your doctor

Bring these to your next appointment

  • Q1.Has the specific genetic cause of my iron overload and neurological symptoms been identified?,Which updated diagnosis replaces the obsolete term I was given, and what does it mean for my care?,Would iron chelation therapy be appropriate for me, and can it help with the brain symptoms?,How often should I have MRI scans and blood tests to monitor iron levels?,Are there any clinical trials or experimental treatments I might be eligible for?,Should my family members be tested for this genetic condition?,What therapies (physical, occupational, speech) would benefit me most right now?

Common questions about OBSOLETE: Hereditary iron overload with neurologic manifestation

What is OBSOLETE: Hereditary iron overload with neurologic manifestation?

Hereditary iron overload with neurologic manifestation is a very rare genetic condition that has been classified as 'obsolete' in medical databases, meaning the term is no longer actively used as a standalone diagnosis. This condition was originally described to capture cases where the body absorbs and stores too much iron (iron overload), and this excess iron deposits in the brain and nervous system, leading to neurological problems. The term has largely been replaced by more specific diagnoses as medical understanding has improved. When iron builds up in the brain and nervous system, it can