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CCDC115-CDG
Disease definition
A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia, and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia, and low serum ceruloplasmin.
ORPHA:468684
Classification level: Disorder- Synonym(s):
- CDG syndrome type IIo
- CDG-IIo
- CDG2O
- Carbohydrate deficient glycoprotein syndrome type IIo
- Congenital disorder of glycosylation type 2o
- Congenital disorder of glycosylation type IIo
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Neonatal, Infancy
- ICD-10: E77.8
- OMIM: 616828
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)
Detailed information
Guidelines
- Clinical practice guidelines
- Deutsch (2015) - AWMF
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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