Imerslund-Grasbeck syndrome type 2
MONDO:0100157Mondo
Findings
No curated finding names Imerslund-Grasbeck syndrome type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
10 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.
- Decreased circulating vitamin B12 concentrationHPOHP:0100502
- 8 of 8 reported patients
- ProteinuriaHPOHP:0000093
- 7 of 8 reported patients
- AnemiaHPOHP:0001903
- 5 of 8 reported patients
- Moderate albuminuriaHPOHP:0012594
- 3 of 8 reported patients
- DiarrheaHPOHP:0002014
- 2 of 8 reported patients
- Megaloblastic anemiaHPOHP:0001889
- 2 of 8 reported patients
- Growth delayHPOHP:0001510
- 1 of 8 reported patients
- Lumbar kyphosisHPOHP:0008454
- 1 of 8 reported patients
- Recurrent urinary tract infectionsHPOHP:0000010
- 1 of 8 reported patients
- Renal insufficiencyHPOHP:0000083
- 0 of 8 reported patients
Genes
1 gene
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.
- AMNHGNC:14604
- Definitive · Natera · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: Imerslund-Grasbeck syndrome type 2
- Also called
- Imerslund-Grasbeck syndrome 2megaloblastic anemia, Norwegian type