Imerslund-Grasbeck syndrome type 1

MONDO:0100156

An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.

Also known as: Imerslund-Grasbeck syndrome 1, Imerslund-Grasbeck syndrome type 1, MGA-1, MGA1, Mga1, enterocyte cobalamin malabsorption, enterocyte intrinsic factor receptor, defect of, megaloblastic Anaemia type 1

18 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Anemia (233) Metabolic disease (233) Nutritional deficiency disease (221) Hereditary disease (176) Hematologic disorder (170) Nutritional disorder (129) Inborn errors of metabolism (45) Syndromic disease (25) Human disease (14)

Trials to join now! 7 Not yet recruiting 4 Not yet finished but already full! 2 Completed 5

Imerslund-Grasbeck syndrome type 1

Broader categories

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New anemia drug enters early human testing

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Scientists launch deep dive into rare metabolic disease MMA

Hospital tests if its own anemia rules actually get followed

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