glycogen storage disease VI
Findings
No curated finding names glycogen storage disease VI yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.
Definition from the Mondo Disease Ontology (MONDO:0009294), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
31 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.
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- 4 of 4 reported patients · Infantile onset
- Very frequent (80% to 99% of cases)
- Increased hepatic glycogen contentHPOHP:0006568
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
Show the remaining 19
- Hepatic fibrosisHPOHP:0001395
- Occasional (5% to 29% of cases)
- HyperlipidemiaHPOHP:0003077
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
- Intermittent lactic acidemiaHPOHP:0004913
- Occasional (5% to 29% of cases)
- IrritabilityHPOHP:0000737
- Occasional (5% to 29% of cases)
- Motor delayHPOHP:0001270
- Occasional (5% to 29% 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.
- PYGLHGNC:9725
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
14 names
Resolves to: glycogen storage disease VI
- Also called
- glycogen storage disease caused by mutation in PYGLglycogen storage disease type 6Glycogen Storage Disease Type VIglycogenosis due to liver glycogen phosphorylase deficiencyglycogenosis type 6glycogenosis type VIGSD due to liver glycogen phosphorylase deficiencyGSD type 6GSD type VIhepatic glycogen phosphorylase deficiencyhepatic phosphorylase deficiencyhers diseaseliver glycogen phosphorylase deficiencyPYGL glycogen storage disease