Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.
Synonyms: Selective cobalamin malabsorption with proteinuria Familial megaloblastic anemia
This is just here as a test because I lose it
Term information
database cross reference
- OMIM:261100 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:D51.1 (Attributed (The ICD10 code is attributed by Orphanet))
- UMLS:C1306856 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:D51.1 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
Term relations
Subclass of:
- disease
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- part_of some Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
- has_inheritance some autosomal recessive
- present_in some Norway and has_point_prevalence_range some 1-9 / 1 000 000 and has_point_prevalence_average_value value 0.5
- has_age_of_onset some childhood
- part_of some Nephropathy secondary to a storage or other metabolic disease
- part_of some Disorder of cobalamin metabolism and transport
- present_in some Finland and has_point_prevalence_range some 1-9 / 1 000 000 and has_point_prevalence_average_value value 0.5
- part_of some Intestinal disease due to vitamin absorption anomaly