The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

The clinical examination and laboratory studies revealed pallor of conjunctiva, megaloblastic anemia with vitamin B12 deficiency (serum vitamin B 12 level IGS was firstly described in 1960 by Olga Imerslund and more than 300 cases have been published [revistanefrologia.com]

The blood abnormality leads to many of the signs and symptoms of the condition, including an inability to grow and gain weight at the expected rate (failure to thrive), pale skin (pallor), excessive tiredness (fatigue), and recurring gastrointestinal [ghr.nlm.nih.gov]

Signs and symptoms [ edit ] Defined as those seen in any macrocytic, megaloblastic anemia: [ citation needed ] Anemia : causing fatigue, conjuctival pallor, pale complexion, and in some cases, a mild icterus (yellowing of the eye). [en.wikipedia.org]

Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades. 0001289 Dementia Dementia, progressive Progressive dementia Last updated: 1/6/2014 Testing Resources The Genetic Testing Registry (GTR) [rarediseases.info.nih.gov]

[…] cases around the world, was postulated as an ancient founder mutation that can trace back to approximately 13,600 years ago. [2] [4] Pathogenesis [ edit ] Vitamin B 12, is an essential water-soluble vitamin found in animal products (such as liver, meat, fish [en.wikipedia.org]

Full Text Dear Editor, Imerslund-Grasbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by megaloblastic anemia due to selective vitamin B 12 malabsorption and asymptomatic proteinuria. 1 IGS occurs in the first 1-2 years of the [revistanefrologia.com]

Clinical description Other manifestations include failure to thrive and grow, infections and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of the patients. [orpha.net]

Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease ) is present in about half of affected individuals. [rarediseases.info.nih.gov]

In diagnosing this disease, it is important to be aware that cobalamin deficiency affects enterocyte function; therefore, all tests suggesting general and cobalamin malabsorption should be repeated after abolishment of the deficiency. [orpha.net]

[…] mutations on the CUBN or AMN (genes that encode cubilin and amnionless respectively) have been identified through genetic analysis, and ethnic susceptibility of some of the mutations were indicated from the current research. [2] [3] It has been further suggested [en.wikipedia.org]

paralysis of the limbs. [en.wikipedia.org]

Other features of Imerslund-Gräsbeck syndrome include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion. [ghr.nlm.nih.gov]

Laboratory findings indicating increased MCV (Mean Corpuscular Volume), decreased Hgb / Hct (indicating anemia), and decreased value of vitamin B 12 in the blood. Proteinuria: protein found in the urine detected by analysis or by dipstick. [en.wikipedia.org]