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MAN1B1-CDG
Disease definition
MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).
ORPHA:397941
Classification level: Disorder- Synonym(s):
- 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
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Childhood
- ICD-10: E77.8
- OMIM: -
- UMLS: C4518783
- MeSH: -
- GARD: 12417
- MedDRA: -
A summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016)
Detailed information
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews
Genetic Testing
- Guidance for genetic testing
- English (2015) - Eur J Hum Genet
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produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.