Overview
X-linked acrogigantism (X-LAG) due to a point mutation is a very rare condition that causes extreme overgrowth, particularly excessive height and enlarged hands and feet (acrogigantism), beginning in early childhood. This entry is now considered obsolete in medical classification systems, as it has been merged into the broader category of X-linked acrogigantism. The condition is caused by changes in the GPR101 gene located on the X chromosome. This gene plays a role in regulating growth hormone release from the pituitary gland, a small gland at the base of the brain. When the gene is altered, the pituitary gland produces too much growth hormone and a related hormone called insulin-like growth factor 1 (IGF-1), leading to rapid and excessive growth starting in infancy or early childhood. Children with this condition may grow much faster than their peers, develop very large hands and feet, and may have coarsened facial features. The pituitary gland itself may become enlarged or develop tumors (pituitary adenomas or hyperplasia). Without treatment, the excessive growth hormone can affect many body systems, including the heart, joints, and metabolism. Treatment typically involves surgery to remove pituitary tumors, medications to control growth hormone levels (such as somatostatin analogs like octreotide or lanreotide, and growth hormone receptor antagonists like pegvisomant), and sometimes radiation therapy. Early diagnosis and treatment are important to manage growth and prevent long-term complications.
Also known as:
Key symptoms:
Extremely rapid growth in infancy or early childhoodVery tall stature for ageEnlarged hands and feetCoarsened facial featuresIncreased head sizeExcessive sweatingIncreased appetiteEnlarged pituitary gland or pituitary tumorsJoint pain or stiffnessThickened skinHigh levels of growth hormone in the bloodEnlarged jaw or foreheadSleep problemsFatigue
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: X-linked acrogigantism due to a point mutation.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: X-linked acrogigantism due to a point mutation.
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 OBSOLETE: X-linked acrogigantism due to a point mutation.
Community
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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.How will my child's growth be monitored over time, and what are the treatment goals?,What medications will be used, and what are their side effects?,Is surgery recommended, and what are the risks and benefits?,How often will my child need MRI scans and blood tests?,Should other family members be tested for the GPR101 gene change?,What support services are available for my child's emotional and social well-being?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about OBSOLETE: X-linked acrogigantism due to a point mutation
What is OBSOLETE: X-linked acrogigantism due to a point mutation?
X-linked acrogigantism (X-LAG) due to a point mutation is a very rare condition that causes extreme overgrowth, particularly excessive height and enlarged hands and feet (acrogigantism), beginning in early childhood. This entry is now considered obsolete in medical classification systems, as it has been merged into the broader category of X-linked acrogigantism. The condition is caused by changes in the GPR101 gene located on the X chromosome. This gene plays a role in regulating growth hormone release from the pituitary gland, a small gland at the base of the brain. When the gene is altered,
How is OBSOLETE: X-linked acrogigantism due to a point mutation inherited?
OBSOLETE: X-linked acrogigantism due to a point mutation follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: X-linked acrogigantism due to a point mutation typically begin?
Typical onset of OBSOLETE: X-linked acrogigantism due to a point mutation is infantile. Age of onset can vary across affected individuals.