IllnessFanconi-Bickel syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Fanconi-Bickel syndrome
ID
FS0030
Number of genes
1
Accredited laboratory test
Examined sequence length
1,6 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 | Heredity |
---|---|---|---|
SLC2A2 | 1575 | AR |
Informations about the disease
Clinical Comment
Glycogen storage disease, deficiency in solute carrier family 2, facilitated glucose transporter member 2, with hepatorenal accumulation leading to severe renal tubular dysfunction + impaired glucose + galactose metabolism
Synonyms
- Allelic: Diabetes mellitus, noninsulin-dependent (SLC2A2)
- GSD type 11; GSD type XI (SLC2A2)
- Glycogen storage disease due to GLUT2 deficiency; GSD due to GLUT2 deficiency (SLC2A2)
- Glycogen storage disease type XI; GSD type XI (SLC2A2)
- Glycogenosis due to GLUT2 deficiency (SLC2A2)
- Hepatorenal glycogenosis with renal Fanconi syndrome (SLC2A2)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
E74.0
Bioinformatics and clinical interpretation
No text defined