Overview
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (sometimes abbreviated as MPSHL or referred to by its gene name, PIGL-related disorder) is a very rare inherited condition that affects multiple body systems at once. The name 'mucopolysaccharidosis-like' means the disease looks similar to a group of conditions called mucopolysaccharidoses (MPS disorders), where the body has trouble breaking down certain complex sugar molecules — but this condition has a different underlying cause. It is caused by changes (mutations) in the PIGL gene, which plays an important role in building a special anchor that attaches proteins to the surface of cells. When this anchor system does not work properly, many organs and tissues are affected. Children with this condition are typically born with heart defects that are present from birth (congenital heart defects) and problems with blood cell production (hematopoietic disorders), meaning the body may not make enough healthy blood cells. Other features can include coarse facial features similar to those seen in MPS disorders, developmental delays, and problems with multiple organ systems. Because this condition is so rare and was only recently described, research is still ongoing and the full picture of how it affects people over time is still being learned. There are currently no approved disease-specific treatments, and care focuses on managing individual symptoms.
Also known as:
Key symptoms:
Heart defects present from birth (congenital heart defects)Problems making healthy blood cells (hematopoietic disorders)Coarse or unusual facial featuresDevelopmental delays or intellectual disabilityEnlarged liver or spleenSkeletal abnormalities or bone problemsLow muscle tone (floppiness in infancy)Anemia or low blood countsGrowth problems or short statureFeeding difficulties in infancy
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders.
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 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders.
Community
No community posts yet. Be the first to share your experience with Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders.
Start the conversation →Latest news about Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
No recent news articles for Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders.
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 changes were found in my child's PIGL gene, and what do they mean for their health?,How serious are my child's heart defects, and will they need surgery?,What blood tests and heart monitoring should we do regularly, and how often?,Are there any clinical trials or research studies we could participate in?,What therapies (physical, occupational, speech) do you recommend starting right away?,What signs should prompt us to go to the emergency room immediately?,Should other family members be tested for this gene change?
Common questions about Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
What is Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders?
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (sometimes abbreviated as MPSHL or referred to by its gene name, PIGL-related disorder) is a very rare inherited condition that affects multiple body systems at once. The name 'mucopolysaccharidosis-like' means the disease looks similar to a group of conditions called mucopolysaccharidoses (MPS disorders), where the body has trouble breaking down certain complex sugar molecules — but this condition has a different underlying cause. It is caused by changes (mutations) in the PIGL gene, which plays an i
How is Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders inherited?
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders typically begin?
Typical onset of Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders is neonatal. Age of onset can vary across affected individuals.