Imerslund–Gräsbeck syndrome

Also known as: Selective cobalamin malabsorption with proteinuria

Recessive vitamin B12 malabsorption.

Medical specialty: Hematology
Subspecialty: Hematology / Vitamin deficiencies
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: AMN, CUBN

Etiology & mechanism

Cubilin or amnionless defects.

Gene(s) involved (2)

AMNCUBN

Symptoms & signs (4)

failure to thrivemegaloblastic anemianeurologic signsproteinuria

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.