Living with MAN1B1-congenital disorder of glycosylation
A rare inherited condition with intellectual disability, delayed movement skills, low muscle tone, and extra weight around the trunk.
Understanding MAN1B1-congenital disorder of glycosylation
People have intellectual disability, delayed motor skills, and low muscle tone, plus weight gain around the trunk. Other features include slight differences in facial features, loose joints, and loose skin. It begins in infancy and childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed development
- Low muscle tone in infants
- Poor speech
- Weight gain around the trunk (truncal obesity)
- Wide-set eyes, large low-set ears
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in MAN1B1 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
- Brain and nervous system specialists (neurologists); 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 and other patient organizations
- 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
Changes in the MAN1B1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1b member 1; carbohydrate deficient glycoprotein syndrome type ii due to man1b1 deficiency; congenital disorder of glycosylation type 2 due to man1b1 deficiency; congenital disorder of glycosylation type ii due to man1b1 deficiency; intellectual disability-truncal obesity syndrome; man1b1-cdg
Patient organizations
- CDG CAREMAN1B1-congenital disorder of glycosylation · United States
- CDG & Allies - PPAINMAN1B1-congenital disorder of glycosylation
You are more than your diagnosis
Perspectives from people navigating life with MAN1B1-congenital disorder of glycosylation.
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