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TMEM199-CDG
Disease definition
A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.
ORPHA:466703
Classification level: Disorder- Synonym(s):
- CDG syndrome type IIp
- CDG-IIp
- CDG2P
- Carbohydrate deficient glycoprotein syndrome type IIp
- Congenital disorder of glycosylation type 2p
- Congenital disorder of glycosylation type IIp
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Adolescent, Infancy, Childhood
- ICD-10: E77.8
- OMIM: 616829
- 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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