ALG1-congenital disorder of glycosylation
Findings
No curated finding names ALG1-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).
Definition from the Mondo Disease Ontology (MONDO:0012052), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Third trimester onset
HPO, annotations 2026-09-02
Features
44 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.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- CardiomyopathyHPOHP:0001638
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient · Third trimester onset
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- HypogonadismHPOHP:0000135
- 1 of 1 reported patient
- Joint contractureHPO
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.
- ALG1HGNC:18294
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: ALG1-congenital disorder of glycosylation
- Also called
- ALG1-CDGcarbohydrate deficient glycoprotein syndrome type IkCDG syndrome type IkCDG-IkCDG1Kcongenital disorder of glycosylation type 1kcongenital disorder of glycosylation type Ikmannosyltransferase 1 deficiency