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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessImerslund-Gräsbeck syndrome

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Imerslund-Gräsbeck syndrome

ID
IP0030
Number of genes
2 Accredited laboratory test
Examined sequence length
12,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AMN1362NM_030943.4AR
CUBN10872NM_001081.4AR

Informations about the disease

Clinical Comment

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/

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined