Imerslund-Grasbeck syndrome type 1
MONDO:0100156Mondo
Findings
No curated finding names Imerslund-Grasbeck syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Megaloblastic anemiaHPOHP:0001889
- 1 of 1 reported patient
- Microscopic hematuriaHPOHP:0002907
- 1 of 1 reported patient
- ProteinuriaHPOHP:0000093
- 1 of 1 reported patient
- Abnormal circulating folate concentrationHPOHP:0040087
- 0 of 1 reported patient
- Decreased circulating vitamin B12 concentrationHPOHP:0100502
- Malabsorption of Vitamin B12HPOHP:0200118
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CUBNHGNC:2548
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- AMNHGNC:14604
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
10 names
Resolves to: Imerslund-Grasbeck syndrome type 1
- Also called
- enterocyte cobalamin malabsorptionenterocyte intrinsic factor receptor, defect ofImerslund-Grasbeck syndrome 1megaloblastic Anaemia type 1megaloblastic Anemia type 1megaloblastic anemia, 1megaloblastic anemia, Finnish typeMGA-1MGA1pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria