Deutsch
IllnessMorbus Danon
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Morbus Danon
ID
MS3847
Number of genes
1
Accredited laboratory test
Examined sequence length
1,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| LAMP2 | 1233 | NM_002294.3 | XL |
Informations about the disease
Clinical Comment
Lysosomal glycogen storage disease with severe cardiomyopathy, variable degrees of muscle weakness frequently associated with intellectual deficit
Synonyms
- Alias: Antopol disease
- Alias: Glycogen storage disease due to LAMP-2 deficiency
- Alias: Lysosomal glycogen storage disease with normal acid maltase activity
- Alias: Pseudoglycogenosis II
- Alias: Vacuolar cardiomyopathy + myopathy, XL
- Danon disease (LAMP2)
Heredity, heredity patterns etc.
- XL
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined