IllnessMorbus Fabry
Summary
Curated single gene sequence analysis according to the clinical suspicion Morbus Fabry
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Sanger
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
GLA | 1290 | XL, Mult |
Informations about the disease
Fabry disease is a progressive, multisystemic lysosomal storage disorder characterised by neurological, cutaneous, cardiovascular, cochleo-vestibular and cerebrovascular symptoms. The clinical picture covers a wide spectrum, ranging from mild cases in heterozygous women to severe courses in classically affected hemicygous men with no residual activity of alpha-galactosidase A. These patients may have all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, renal insufficiency), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischaemic attacks, stroke) symptoms of the disease. Female patients can have very mild to severe symptoms. Fabry disease is caused by mutations in the GLA gene. A negative genetic finding practically rules out Fabry's disease.
Reference: https://www.ncbi.nlm.nih.gov/books/NBK1292/
- Alias: Alpha-galactosidase A deficiency
- Alias: Anderson-Fabry disease
- Alias: Angiokeratoma corporis diffusum
- Alias: Diffuse angiokeratoma
- Fabry disease (GLA)
- Fabry disease, cardiac variant (GLA)
- Mult
- XL
Bioinformatics and clinical interpretation
No text defined