Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
Megaloblastic anemia 1
Megaloblastic anemia due to selective vitamin B12 malabsorption |
| gptkbp:category |
hematologic disease
inherited metabolic disorder |
| gptkbp:complication |
developmental delay
neurological impairment |
| gptkbp:diagnosedBy |
low vitamin B12 levels
urinary protein excretion |
| gptkbp:firstDescribed |
1960
Olaf Imerslund Ralph Gräsbeck |
| https://www.w3.org/2000/01/rdf-schema#label |
Imerslund-Gräsbeck syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
AMN gene
CUBN gene |
| gptkbp:OMIM |
261100
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
proteinuria
failure to thrive neurological symptoms megaloblastic anemia |
| gptkbp:treatment |
vitamin B12 injections
|
| gptkbp:bfsParent |
gptkb:Amn
|
| gptkbp:bfsLayer |
7
|