Overview
Maternal uniparental disomy of chromosome 1 syndrome (also written as maternal UPD1 or matUPD1) is a very rare genetic condition. Normally, you inherit one copy of each chromosome from your mother and one from your father. In this condition, a person has received both copies of chromosome 1 from their mother and none from their father. This unusual inheritance pattern can disrupt how certain genes on chromosome 1 work, particularly genes that are 'imprinted' — meaning they are only supposed to be active when inherited from a specific parent. The effects of maternal UPD1 can vary widely from person to person. Some individuals may have few or no noticeable symptoms, while others experience growth problems, intellectual disability, or other developmental challenges. Because chromosome 1 is the largest human chromosome and carries many genes, the exact symptoms depend on which imprinted genes are affected and whether any recessive gene variants were inherited from the mother in two copies. There is currently no cure for maternal UPD1. Treatment focuses on managing individual symptoms, supporting development through therapies, and monitoring for related health problems. A team of specialists — including geneticists, developmental pediatricians, and therapists — typically works together to support affected individuals and their families.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesDelayed development (sitting, walking, talking later than expected)Short stature or slow growthLow muscle tone (floppy muscles)Feeding difficulties in infancyBehavioral challengesMild facial differencesPossible increased risk of certain recessive genetic conditions if the mother carries a gene variant
Clinical phenotype terms (29)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Maternal uniparental disomy of chromosome 1 syndrome.
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Specialists
View all specialists →No specialists are currently listed for Maternal uniparental disomy of chromosome 1 syndrome.
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 Maternal uniparental disomy of chromosome 1 syndrome.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific effects should I expect from maternal UPD1 in my child's case?,Are there any imprinted genes on chromosome 1 that are particularly affected, and what does that mean for my child?,Should my child be tested for recessive conditions related to chromosome 1 genes inherited from the mother?,What therapies or early intervention programs do you recommend starting right away?,How often should my child be seen by a geneticist and other specialists?,Are there any clinical trials or research studies we could participate in?,What signs or symptoms should prompt me to seek urgent medical attention?
Common questions about Maternal uniparental disomy of chromosome 1 syndrome
What is Maternal uniparental disomy of chromosome 1 syndrome?
Maternal uniparental disomy of chromosome 1 syndrome (also written as maternal UPD1 or matUPD1) is a very rare genetic condition. Normally, you inherit one copy of each chromosome from your mother and one from your father. In this condition, a person has received both copies of chromosome 1 from their mother and none from their father. This unusual inheritance pattern can disrupt how certain genes on chromosome 1 work, particularly genes that are 'imprinted' — meaning they are only supposed to be active when inherited from a specific parent. The effects of maternal UPD1 can vary widely from p
How is Maternal uniparental disomy of chromosome 1 syndrome inherited?
Maternal uniparental disomy of chromosome 1 syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.