ALG8-congenital disorder of glycosylation
Findings
No curated finding names ALG8-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011969), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Infantile onset · Neonatal death · Fetal onset
HPO, annotations 2026-09-02
Features
64 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnemiaHPOHP:0001903
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- AscitesHPOHP:0001541
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Decreased circulating T4 concentrationHPOHP:0031507
- 2 of 2 reported patients
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- EdemaHPOHP:0000969
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ALG8HGNC:23161
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: ALG8-congenital disorder of glycosylation
- Also called
- ALG8-CDGcarbohydrate deficient glycoprotein syndrome type IhCDG syndrome type IhCDG-IhCDG1Hcongenital disorder of glycosylation type 1hcongenital disorder of glycosylation type Ihglucosyltransferase 2 deficiency