Imerslund-Gräsbeck syndrome

ORPHA: 35858

Overview

medical condition

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Imerslund-Gräsbeck syndrome, sourced from HPO and Orphanet clinical annotations.

Delayed speech and language developmentHypotoniaFailure to thriveTachycardiaWeight lossThrombocytopeniaPancytopeniaAbnormal bleedingVomitingDecreased circulating vitamin B12 concentrationMalabsorption of Vitamin B12Abnormal blood 5-methyltetrahydrofolate levelMegaloblastic anemiaMacrocytic anemiaHypersegmentation of neutrophil nucleiProteinuriaPallorDecreased total neutrophil countReticulocytosisAnisopoikilocytosisAbnormal hemoglobin concentrationOval macrocytosisGlossitisAbnormality of the nervous systemConstipationDevelopmental regressionPoor appetiteAngular cheilitisDelayed ability to walkImmunodeficiency

Classification & Codes

Orphanet Code

ORPHA:35858
Imerslund-Gräsbeck syndrome
OrphanetORPHA:35858
Treatments0 drug(s)
Symptoms on record30 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO