IllnessImerslund-Gräsbeck syndrome
Summary
Curated single gene sequence analysis according to the clinical suspicion Imerslund-Gräsbeck syndrome
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Gene panel
Informations about the disease
Imerslund-Gräsbeck syndrome is one of the disorders of intracellular cobalamin metabolism due to defects in the enterocytic intrinsic factor receptor. In infancy and childhood, symptoms may include reduced cobalamin absorption, abnormal renal tubular protein reabsorption, neurologic problems, urinary tract malformations and, most importantly, megaloblastic anemia. The disorder is caused by biallelic pathogenic variants in one of two genes encoding intrinsic factor receptor components, CUBN and AMN. DNA diagnostic yields are unknown. A negative molecular genetic result does not exclude the clinical diagnosis.
Reference: https://www.ncbi.nlm.nih.gov/books/NBK1328/
- Sympt.: Juvenile pernicious anemia, selective intestinal malabsorption of B12, proteinuria
- Alias: Megaloblastic anemia-1, Finnish type (CUBN)
- Alias: Megaloblastic anemia-1, Norwegian type (AMN)
- Allelic: Proteinuria, chronic benign [PROCHOB] (CUBN)
- Imerslund-Grasbeck syndrome 1 (CUBN)
- Imerslund-Grasbeck syndrome 2 (AMN)
- AR
Bioinformatics and clinical interpretation
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