Hematology · Hematology / Vitamin deficiencies
Imerslund–Gräsbeck syndrome
also: Selective cobalamin malabsorption with proteinuria
Recessive vitamin B12 malabsorption.
- Specialty
- Hematology
- Subspecialty
- Hematology / Vitamin deficiencies
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- AMN, CUBN
- Alternative names & eponyms
- Selective cobalamin malabsorption with proteinuria
Etiology & mechanism
Cubilin or amnionless defects.
Gene(s) involved (2)
Symptoms & signs (4)
In plain terms, someone with Imerslund–Gräsbeck syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Cobalamin C syndrome
failure to thrive, megaloblastic anemia
2 shared
Fanconi–Bickel syndrome
failure to thrive, proteinuria
1 shared
Action myoclonus–renal failure syndrome
proteinuria
1 shared
Alport syndrome
proteinuria
1 shared
Bare lymphocyte syndrome
failure to thrive
1 shared
Bartter syndrome
failure to thrive
1 shared
Diencephalic syndrome
failure to thrive
1 shared
Epstein syndrome
proteinuria
1 shared
Folate malabsorption syndrome
megaloblastic anemia
1 shared
Frasier syndrome
proteinuria
Shares genes with
None.
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