Overview
TMEM165-CDG, also known as Congenital Disorder of Glycosylation type IIk, is an extremely rare inherited metabolic disease caused by changes (mutations) in the TMEM165 gene. This gene provides instructions for making a protein that helps transport certain minerals, especially manganese and calcium, within cells. These minerals are essential for a process called glycosylation, which is how the body attaches sugar molecules to proteins. When glycosylation does not work properly, many organs and body systems can be affected. Children with TMEM165-CDG typically show signs early in life, including poor growth (failure to thrive), skeletal abnormalities such as short stature and abnormal bone development, low muscle tone (hypotonia), and intellectual disability. Some patients also develop liver problems, hormonal issues, and distinctive facial features. The severity can vary from person to person, but most affected individuals have significant developmental challenges. There is currently no cure for TMEM165-CDG. Treatment focuses on managing symptoms and supporting development. Importantly, research has shown that supplementation with galactose and manganese may help improve glycosylation in some patients, which represents a promising targeted approach. A team of specialists typically works together to address the many aspects of this condition, including metabolic doctors, bone specialists, and developmental therapists.
Also known as:
Key symptoms:
Poor growth and failure to thriveShort statureSkeletal abnormalities and bone problemsLow muscle tone (floppy muscles)Intellectual disabilityDelayed development and milestonesLiver problemsDistinctive facial featuresFrequent infectionsHormonal imbalancesAbnormal fat distributionJoint looseness or stiffnessFeeding difficulties in infancyLow calcium levels in the bloodSeizures in some cases
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 TMEM165-CDG.
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Specialists
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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 TMEM165-CDG.
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.Would galactose or manganese supplementation be appropriate for my child, and how would you monitor it?,What specific tests should be done regularly to track my child's condition?,What developmental therapies do you recommend starting, and how often?,Are there any clinical trials or research studies my child could participate in?,What signs or symptoms should prompt me to seek emergency care?,How will this condition affect my child's growth and bone health over time?,Can you help connect us with other families affected by TMEM165-CDG or CDG support groups?
Common questions about TMEM165-CDG
What is TMEM165-CDG?
TMEM165-CDG, also known as Congenital Disorder of Glycosylation type IIk, is an extremely rare inherited metabolic disease caused by changes (mutations) in the TMEM165 gene. This gene provides instructions for making a protein that helps transport certain minerals, especially manganese and calcium, within cells. These minerals are essential for a process called glycosylation, which is how the body attaches sugar molecules to proteins. When glycosylation does not work properly, many organs and body systems can be affected. Children with TMEM165-CDG typically show signs early in life, including
How is TMEM165-CDG inherited?
TMEM165-CDG follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does TMEM165-CDG typically begin?
Typical onset of TMEM165-CDG is infantile. Age of onset can vary across affected individuals.