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ALG8-CDG
Disease definition
A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.
ORPHA:79325
Classification level: Disorder- Synonym(s):
- CDG syndrome type Ih
- CDG-Ih
- CDG1H
- Carbohydrate deficient glycoprotein syndrome type Ih
- Congenital disorder of glycosylation type 1h
- Congenital disorder of glycosylation type Ih
- Glucosyltransferase 2 deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Neonatal, Infancy
- ICD-10: E77.8
- OMIM: 608104
- UMLS: C2931002
- MeSH: -
- GARD: 9834
- MedDRA: -
A summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016) Deutsch (2006) Français (2006)
Detailed information
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews
: 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
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.