Overview
X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency is a very rare genetic condition that affects multiple systems in the body. It is sometimes referred to by its Orphanet code ORPHA:423479. This condition is caused by a change (mutation) in a gene located on the X chromosome, which means it primarily affects males, while females may carry the gene change without showing full symptoms. The condition causes a combination of problems that include intellectual disability (difficulty with learning and thinking), spasticity (stiff or tight muscles, especially in the arms and legs), retinal dystrophy (damage to the light-sensitive tissue at the back of the eye, leading to vision problems), and arginine vasopressin deficiency (a shortage of a hormone that helps the kidneys control water balance, which can cause excessive thirst and urination — a condition known as central diabetes insipidus). Because this disease affects the brain, eyes, muscles, and hormonal system all at once, it is considered a multi-system disorder. There is currently no cure. Treatment focuses on managing each symptom separately, such as hormone replacement for the vasopressin deficiency, physical therapy for spasticity, educational support for intellectual disability, and regular eye monitoring for retinal changes.
Also known as:
Key symptoms:
Intellectual disability — difficulty with learning, memory, and daily thinking tasksStiff or tight muscles in the arms and legs (spasticity)Vision problems due to damage to the retina at the back of the eye (retinal dystrophy)Excessive thirst and very frequent urination (central diabetes insipidus)Delayed development in infancy and early childhoodDifficulty walking or moving due to muscle stiffnessPossible night blindness or loss of side vision from retinal damagePoor coordination or balance
Clinical phenotype terms (35)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency.
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 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency.
Community
No community posts yet. Be the first to share your experience with X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency.
Start the conversation →Latest news about X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
No recent news articles for X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency.
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 gene is causing this condition in my family, and what does that mean for other family members?,How quickly might the retinal dystrophy progress, and what can we do to protect vision?,What is the best way to manage the diabetes insipidus, and what are the warning signs of a crisis?,What therapies — physical, occupational, or speech — would be most helpful, and how often should we do them?,Are there any clinical trials or research studies we should know about for this condition?,What educational and social support services are available for someone with this level of intellectual disability?,Should other family members be tested, and what are the chances of passing this condition to future children?
Common questions about X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
What is X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency?
X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency is a very rare genetic condition that affects multiple systems in the body. It is sometimes referred to by its Orphanet code ORPHA:423479. This condition is caused by a change (mutation) in a gene located on the X chromosome, which means it primarily affects males, while females may carry the gene change without showing full symptoms. The condition causes a combination of problems that include intellectual disability (difficulty with learning and thinking), spasticity (stiff or tight muscles, es
How is X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency inherited?
X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency typically begin?
Typical onset of X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency is infantile. Age of onset can vary across affected individuals.