IGS1
MCID: IMR002
MIFTS: 43
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Imerslund-Grasbeck Syndrome 1 (IGS1)
Categories:
Blood diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Imerslund-Grasbeck Syndrome 1:
Name: Imerslund-Grasbeck Syndrome 1
56
Characteristics:Orphanet epidemiological data:58
imerslund-grasbeck syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Norway); Age of onset: Childhood; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
early childhood onset (before age 5 years) some patients may present in the second decade with neurologic symptoms due to chronic vitamin b12 deficiency treatment with vitamin b12 resolves the anemia and neurologic symptoms proteinuria is persistent without progressive renal dysfunction HPO:31
imerslund-grasbeck syndrome 1:
Inheritance autosomal recessive inheritance Onset and clinical course childhood onset Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Gastrointestinal diseases Nephrological diseases Blood diseases
ICD10:
33
Orphanet: 58
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OMIM :
56
Imerslund-Grasbeck syndrome-1 (IGS1) is 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. Treatment with vitamin B12 results in sustained clinical improvement of the anemia and resolution of the neurologic symptoms, if present. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function over time; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN (605799)/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF; 609342). In the kidney, AMN/CUBN interacts with the endocytic receptor megalin (LRP2; 600073), which is important for the reabsorption of plasma proteins (summary by Grasbeck, 2006, Storm et al., 2011, Storm et al., 2013).
(261100)
MalaCards based summary : Imerslund-Grasbeck Syndrome 1, also known as imerslund-grasbeck syndrome, is related to 3-methylglutaconic aciduria, type i and megaloblastic anemia. An important gene associated with Imerslund-Grasbeck Syndrome 1 is CUBN (Cubilin), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Lipoprotein metabolism. Affiliated tissues include kidney, skin and testes, and related phenotypes are proteinuria and paresthesia UniProtKB/Swiss-Prot : 73 Recessive hereditary megaloblastic anemia 1: Due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected. |
Human phenotypes related to Imerslund-Grasbeck Syndrome 1:31 (show all 8)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:261100 |
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MalaCards organs/tissues related to Imerslund-Grasbeck Syndrome 1:40
Kidney,
Skin,
Testes,
Neutrophil
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Articles related to Imerslund-Grasbeck Syndrome 1:(show top 50) (show all 51)
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ClinVar genetic disease variations for Imerslund-Grasbeck Syndrome 1:6 (show top 50) (show all 532)
UniProtKB/Swiss-Prot genetic disease variations for Imerslund-Grasbeck Syndrome 1:73
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Search
GEO
for disease gene expression data for Imerslund-Grasbeck Syndrome 1.
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Pathways related to Imerslund-Grasbeck Syndrome 1 according to GeneCards Suite gene sharing:
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Cellular components related to Imerslund-Grasbeck Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Imerslund-Grasbeck Syndrome 1 according to GeneCards Suite gene sharing:
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