Living with TMEM165-congenital disorder of glycosylation
A rare genetic condition (TMEM165-CDG) with delayed development, bone and spine differences, and slow growth.
Understanding TMEM165-congenital disorder of glycosylation
It causes delayed development and slow growth after birth, along with major bone differences, including a curved spine. Other features include facial differences, kidney problems (nephrotic syndrome), heart defects, and feeding problems. It starts in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth and trouble gaining weight
- Low muscle tone (hypotonia)
- Bone growth differences and osteoporosis
- Loose joints (joint hypermobility)
- Enlarged liver (hepatomegaly)
- Low platelet count (thrombocytopenia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TMEM165 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CDG CARE may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: CDG CARE
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CDG CARE
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the TMEM165 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type 2k; carbohydrate deficient glycoprotein syndrome type iik; cdg iik; cdg syndrome type iik; cdg-iik; cdg2k
Patient organizations
- CDG CARETMEM165-congenital disorder of glycosylation · United States
You are more than your diagnosis
Perspectives from people navigating life with TMEM165-congenital disorder of glycosylation.
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