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Imerslund-Grasbeck syndrome(MGA1; IGS1)

MedGen UID:
1640347
•Concept ID:
C4551825
•
Disease or Syndrome
Synonyms: Enterocyte cobalamin malabsorption; Enterocyte intrinsic factor receptor, defect of; Imerslund-Gräsbeck syndrome; Megaloblastic anemia due to inborn errors of metabolism; Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria
SNOMED CT: Vitamin B12 deficiency anemia due to selective malabsorption of cyanocobalamin (234363001); Imerslund-Grasbeck anemia (234363001); Selective malabsorption of cyanocobalamin (234363001); Imerslund-Najman-Grasbeck syndrome (234363001); Imerslund-Grasbeck disease (234363001); Imerslund-Grasbeck syndrome (234363001); Imerslund disease (234363001); Imerslund's syndrome (234363001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009853
OMIM®: 261100; 602997
OMIM® Phenotypic series: PS261100
Orphanet: ORPHA35858

Definition

Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImerslund-Grasbeck syndrome

Recent clinical studies

Etiology

Clinical and molecular characteristics of imerslund-gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene.
Elshinawy M, Gao HH, Al-Nabhani DM, Al-Thihli KA
Int J Lab Hematol 2021 Oct;43(5):1009-1015. Epub 2021 Jan 25 doi: 10.1111/ijlh.13473. PMID: 33491342
Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN.
De Filippo G, Rendina D, Rocco V, Esposito T, Gianfrancesco F, Strazzullo P
Ital J Pediatr 2013 Sep 17;39:58. doi: 10.1186/1824-7288-39-58. PMID: 24044590Free PMC Article
Proteinuria and events beyond the slit.
Nielsen R, Christensen EI
Pediatr Nephrol 2010 May;25(5):813-22. Epub 2010 Jan 5 doi: 10.1007/s00467-009-1381-9. PMID: 20049615
Imerslund-Grasbeck syndrome: association with diabetes mellitus.
Madhavan S, Vijayakumar M, Rajajee S, Nammalwar BR
Indian Pediatr 2009 Mar;46(3):251-3. PMID: 19346573
Acquired and inherited disorders of cobalamin and folate in children.
Whitehead VM
Br J Haematol 2006 Jul;134(2):125-36. doi: 10.1111/j.1365-2141.2006.06133.x. PMID: 16846473

Diagnosis

Clinical and molecular characteristics of imerslund-gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene.
Elshinawy M, Gao HH, Al-Nabhani DM, Al-Thihli KA
Int J Lab Hematol 2021 Oct;43(5):1009-1015. Epub 2021 Jan 25 doi: 10.1111/ijlh.13473. PMID: 33491342
A child with Imerslund-Gräsbeck syndrome concealed by co-existing α-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report.
Arunath V, Hoole TJ, Rathnasri A, Muthukumarana O, Kumarasiri IM, Liyanage ND, Costa Y, Mettananda S
BMC Pediatr 2021 Jan 18;21(1):41. doi: 10.1186/s12887-021-02499-1. PMID: 33461510Free PMC Article
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M
J Clin Invest 2020 Jan 2;130(1):335-344. doi: 10.1172/JCI129937. PMID: 31613795Free PMC Article
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).
Gräsbeck R
Orphanet J Rare Dis 2006 May 19;1:17. doi: 10.1186/1750-1172-1-17. PMID: 16722557Free PMC Article
Familial selective vitamin B12 malabsorption (Imerslund-Gräsbeck syndrome) in a pool of Turkish patients.
Altay C, Cetin M, Gümrük F, Irken G, Yetgin S, Laleli Y
Pediatr Hematol Oncol 1995 Jan-Feb;12(1):19-28. doi: 10.3109/08880019509029524. PMID: 7703038

Therapy

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.
Kingma SDK, Neven J, Bael A, Meuwissen MEC, van den Akker M
Orphanet J Rare Dis 2023 Sep 14;18(1):291. doi: 10.1186/s13023-023-02889-x. PMID: 37710296Free PMC Article
Clinical and molecular characteristics of imerslund-gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene.
Elshinawy M, Gao HH, Al-Nabhani DM, Al-Thihli KA
Int J Lab Hematol 2021 Oct;43(5):1009-1015. Epub 2021 Jan 25 doi: 10.1111/ijlh.13473. PMID: 33491342
A child with Imerslund-Gräsbeck syndrome concealed by co-existing α-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report.
Arunath V, Hoole TJ, Rathnasri A, Muthukumarana O, Kumarasiri IM, Liyanage ND, Costa Y, Mettananda S
BMC Pediatr 2021 Jan 18;21(1):41. doi: 10.1186/s12887-021-02499-1. PMID: 33461510Free PMC Article
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M
J Clin Invest 2020 Jan 2;130(1):335-344. doi: 10.1172/JCI129937. PMID: 31613795Free PMC Article
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).
Gräsbeck R
Orphanet J Rare Dis 2006 May 19;1:17. doi: 10.1186/1750-1172-1-17. PMID: 16722557Free PMC Article

Prognosis

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report.
Pacitto A, Prontera P, Stangoni G, Stefanelli M, Ceppi S, Cerri C, Gurdo G, Mencarelli A, Esposito S
Int J Mol Sci 2019 Jan 27;20(3) doi: 10.3390/ijms20030527. PMID: 30691194Free PMC Article
VIT. B12 DEFICIENCY IN CHILDREN (IMERSLUND-GRÄSBECK SYNDROME IN TWO PAIRS OF SIBLINGS).
Krzemień G, Turczyn A, Szmigielska A, Roszkowska-Blaim M
Dev Period Med 2015 Jul-Sep;19(3 Pt 2):351-5. PMID: 26958680
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.
Storm T, Zeitz C, Cases O, Amsellem S, Verroust PJ, Madsen M, Benoist JF, Passemard S, Lebon S, Jønsson IM, Emma F, Koldsø H, Hertz JM, Nielsen R, Christensen EI, Kozyraki R
BMC Med Genet 2013 Oct 24;14:111. doi: 10.1186/1471-2350-14-111. PMID: 24156255Free PMC Article
An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs.
Fyfe JC, Hemker SL, Venta PJ, Fitzgerald CA, Outerbridge CA, Myers SL, Giger U
Mol Genet Metab 2013 Aug;109(4):390-6. Epub 2013 May 22 doi: 10.1016/j.ymgme.2013.05.006. PMID: 23746554Free PMC Article
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).
Gräsbeck R
Orphanet J Rare Dis 2006 May 19;1:17. doi: 10.1186/1750-1172-1-17. PMID: 16722557Free PMC Article

Clinical prediction guides

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.
Storm T, Zeitz C, Cases O, Amsellem S, Verroust PJ, Madsen M, Benoist JF, Passemard S, Lebon S, Jønsson IM, Emma F, Koldsø H, Hertz JM, Nielsen R, Christensen EI, Kozyraki R
BMC Med Genet 2013 Oct 24;14:111. doi: 10.1186/1471-2350-14-111. PMID: 24156255Free PMC Article
An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs.
Fyfe JC, Hemker SL, Venta PJ, Fitzgerald CA, Outerbridge CA, Myers SL, Giger U
Mol Genet Metab 2013 Aug;109(4):390-6. Epub 2013 May 22 doi: 10.1016/j.ymgme.2013.05.006. PMID: 23746554Free PMC Article
Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.
Beech CM, Liyanarachchi S, Shah NP, Sturm AC, Sadiq MF, de la Chapelle A, Tanner SM
Orphanet J Rare Dis 2011 Nov 13;6:74. doi: 10.1186/1750-1172-6-74. PMID: 22078000Free PMC Article
Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function.
Broides A, Yerushalmi B, Levy R, Hadad N, Kaplun N, Tanner SM, Chapelle Ade L, Levy J
J Pediatr Hematol Oncol 2006 Nov;28(11):715-9. doi: 10.1097/01.mph.0000243656.25938.7b. PMID: 17114957
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).
Gräsbeck R
Orphanet J Rare Dis 2006 May 19;1:17. doi: 10.1186/1750-1172-1-17. PMID: 16722557Free PMC Article

Supplemental Content

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    • ClinVar
      Related medical variations
    • GTR
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    • GTR(Clinical)
      Clinical tests in GTR
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    • OMIM
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