glycogen storage disease due to glycogen branching enzyme deficiency
Findings
No curated finding names glycogen storage disease due to glycogen branching enzyme deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.
Definition from the Mondo Disease Ontology (MONDO:0009292), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Third trimester onset
HPO, annotations 2026-09-02
Features
36 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.
- Decreased fetal movementHPOHP:0001558
- 2 of 2 reported patients
- PolyhydramniosHPOHP:0001561
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Abnormal cardiomyocyte morphologyHPOHP:0031331
- Very frequent (80% to 99% of cases)
- Abnormal muscle glycogen contentHPOHP:0012269
- Very frequent (80% to 99% of cases)
- Abnormal neuron branchingHPOHP:0500032
- Very frequent (80% to 99% 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.
- GBE1HGNC:4180
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (8)
- adult polyglucosan body disease
- glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
- glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
- glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
- glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
- glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
- glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
- glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Other names
14 names
Resolves to: glycogen storage disease due to glycogen branching enzyme deficiency
- Also called
- amylopectinosisAndersen diseaseAndersen Disease (GSD IV)Andersen's diseaseGBE1 glycogen storage diseaseglycogen storage disease caused by mutation in GBE1glycogen storage disease type 4glycogen storage disease type IVglycogenosis due to glycogen branching enzyme deficiencyglycogenosis type 4glycogenosis type IVGSD due to glycogen branching enzyme deficiencyGSD type 4GSD type IV