Danon disease
Findings
No curated finding names Danon disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0010281), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
46 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.
- Congestive heart failureHPOHP:0001635
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- 10 of 10 reported patients
- Frequent (30% to 79% of cases)
- Severely reduced left ventricular ejection fractionHPOHP:0012666
- 2 of 2 reported patients
- Skeletal muscle autophagosome accumulationHPOHP:0025717
Show the remaining 34
- Blurred visionHPOHP:0000622
- Frequent (30% to 79% of cases)
- Chest painHPOHP:0100749
- Frequent (30% to 79% of cases)
- CoughHPOHP:0012735
- Frequent (30% to 79% of cases)
- DyspneaHPOHP:0002094
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- 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.
- LAMP2HGNC:6501
- Definitive · ClinGen · X-linked · 2017
- Definitive · G2P · X-linked · 2024
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
8 names
Resolves to: Danon disease
- Also called
- ANTOPOL diseaseDanon disease, X-linked dominantglycogen storage disease type IIbglycogenosis due to LAMP-2 deficiencyGSD due to LAMP-2 deficiencyLAMP2 lysosomal glycogen storage diseaselysosomal glycogen storage disease caused by mutation in LAMP2lysosomal glycogen storage disease with normal acid maltase activity