IEMbase 0478: LAMP2-related lysosome-associated membrane protein 2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 478 |
| Nosology | 20.6.16.01 |
| Gene | LAMP2 |
| External IDs | OMIM:300257; ORPHA:34587 |
| Generated mapping | MAPPED; high candidate Danon_disease.yaml |
| Candidate DisMech targets | Danon_disease.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents X-linked LAMP2 lysosome-associated membrane protein 2 deficiency as Danon disease / glycogen storage disease type IIb. The biochemical signal is dominated by increased plasma ASAT/ALAT, increased plasma creatine kinase, increased hepatic and muscle glycogen, and vacuolated myocytes. IEMbase also records normal alpha-1,4-glucosidase activity in dried blood spot, fibroblast, and muscle assays, which helps separate Danon disease from Pompe disease despite shared glycogen-storage vocabulary. Clinical rows include abnormal EEG, central vision loss, myopia, and vacuolated lymphocytes. No treatment row is recorded.
DisMech phenotype coverage
Danon_disease.yaml is the correct local target. The entry models LAMP2/LAMP-2B
deficiency, impaired autophagosome-lysosome fusion, autophagic vacuole
accumulation, glycogen-containing vacuoles in cardiac and skeletal muscle,
hypertrophic and dilated cardiomyopathy, skeletal myopathy, intellectual
disability, Wolff-Parkinson-White syndrome, retinal dystrophy / visual
impairment, elevated creatine kinase, and elevated hepatic transaminases.
Concordance and completeness
Judgement: correct Danon disease mapping with high concordance.
The resources agree on disease identity, LAMP2 causation, X-linked inheritance, autophagic/vacuolar muscle pathology, glycogen accumulation, cardiac and skeletal-muscle involvement, and transaminase/CK abnormalities. IEMbase adds several useful differential and enrichment prompts: normal alpha-1,4-glucosidase assays as an explicit Pompe-differentiating row, abnormal EEG, myopia, central vision loss, and vacuolated lymphocytes. DisMech is stronger on the causal pathograph and cardiac electrophysiology/remodeling details.
Curation actions
- Keep the mapping to
Danon_disease.yaml. - If importing IEMbase-derived prompts, verify normal alpha-1,4-glucosidase activity, abnormal EEG, central vision loss, myopia, and vacuolated lymphocytes against source evidence before adding them structurally.