ALG8-CDG
Synonyms: 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
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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ALG8-CDG?
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Advocacy Organizations
CDG CARE
Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.