Overview
Infantile multisystem neurologic-endocrine-pancreatic disease is an extremely rare genetic condition that affects multiple body systems beginning in infancy. This disorder is caused by mutations in the PTRH2 gene, which plays an important role in how cells function and survive. The disease is sometimes also referred to as IMNEPD or PTRH2-related disorder. Children with this condition typically experience a combination of neurological problems, hormonal (endocrine) abnormalities, and pancreatic dysfunction. Neurological features often include intellectual disability, hearing loss, problems with balance and coordination (cerebellar ataxia), and delayed development of motor skills such as sitting and walking. Endocrine problems may include thyroid dysfunction and growth issues. Pancreatic involvement can lead to difficulties with digestion because the pancreas does not produce enough digestive enzymes (exocrine pancreatic insufficiency). Because this disease affects so many body systems, children usually need care from multiple specialists. Treatment is currently supportive and focused on managing individual symptoms, such as hearing aids for hearing loss, hormone replacement for endocrine problems, pancreatic enzyme supplements for digestive issues, and physical and occupational therapy for developmental delays. There is no cure at this time, and research into this condition is still in early stages due to its rarity.
Also known as:
Key symptoms:
Intellectual disabilityHearing loss (sensorineural)Problems with balance and coordination (ataxia)Delayed motor development (late sitting, walking)Speech and language delaysShort stature or poor growthThyroid problemsPancreatic insufficiency causing digestive problemsLow muscle tone (hypotonia)Difficulty gaining weight or failure to thriveAbnormal facial featuresSeizures in some casesPeripheral nerve problems (neuropathy)Liver involvement in some cases
Clinical phenotype terms (48)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Infantile multisystem neurologic-endocrine-pancreatic disease.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Infantile multisystem neurologic-endocrine-pancreatic disease at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Infantile multisystem neurologic-endocrine-pancreatic disease.
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 Infantile multisystem neurologic-endocrine-pancreatic disease.
Community
No community posts yet. Be the first to share your experience with Infantile multisystem neurologic-endocrine-pancreatic disease.
Start the conversation →Latest news about Infantile multisystem neurologic-endocrine-pancreatic disease
No recent news articles for Infantile multisystem neurologic-endocrine-pancreatic disease.
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.What specific PTRH2 mutation does my child have, and what does it mean for their prognosis?,Which specialists should we see regularly, and how often?,Does my child need pancreatic enzyme supplements, and how should they be given?,What therapies (physical, speech, occupational) should we start, and how soon?,Should other family members be tested for carrier status?,Are there any clinical trials or research studies we could participate in?,What should we watch for as emergency warning signs, and what is the action plan?
Common questions about Infantile multisystem neurologic-endocrine-pancreatic disease
What is Infantile multisystem neurologic-endocrine-pancreatic disease?
Infantile multisystem neurologic-endocrine-pancreatic disease is an extremely rare genetic condition that affects multiple body systems beginning in infancy. This disorder is caused by mutations in the PTRH2 gene, which plays an important role in how cells function and survive. The disease is sometimes also referred to as IMNEPD or PTRH2-related disorder. Children with this condition typically experience a combination of neurological problems, hormonal (endocrine) abnormalities, and pancreatic dysfunction. Neurological features often include intellectual disability, hearing loss, problems wit
How is Infantile multisystem neurologic-endocrine-pancreatic disease inherited?
Infantile multisystem neurologic-endocrine-pancreatic disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Infantile multisystem neurologic-endocrine-pancreatic disease typically begin?
Typical onset of Infantile multisystem neurologic-endocrine-pancreatic disease is infantile. Age of onset can vary across affected individuals.