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Imerslund-Grasbeck syndrome

Imerslund-Grasbeck syndrome is an autosomal recessive megaloblastic anemia with proteinuria which is caused by mutations of the enterocyte intrinsic factor receptor which is encoded by genes CUBN and AMN. As the same receptor is used by proximal tubulus cells to retrieve filtered proteins, defects of this receptor not only result in vitamin B12 deficiency but also low molecular weight proteinuria.

Systematic

Endocytotic disturbances of proximal tubular function
Donnai-Barrow syndrome
Imerslund-Grasbeck syndrome
AMN
CUBN

References:

1.

Al Essa M et al. (1998) Inborn error of vitamin B12 metabolism: a treatable cause of childhood dementia/paralysis.

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2.

Odievre M et al. (1975) [Selective malabsorption of vitamin B 12 (Imerslund's disease) and its treatment. Apropos of 2 cases].

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3.

Burman JF et al. (1985) Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck syndrome (familial vitamin B12 malabsorption with proteinuria).

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4.

Furuhjelm U et al. (1973) Inheritance of selective malabsorption of vitamin B12.

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5.

Mackenzie IL et al. (1972) Ileal mucosa in familial selective vitamin B 12 malabsorption.

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6.

None (1972) Familial selective vitamin B 12 malabsorption.

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7.

Goldberg LS et al. (1968) Familial selective malabsorption of vitamin B 12. Re-evaluation of an in vivo intrinsic-factor inhibitor.

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8.

Mohamed SD et al. (1966) Juvenile familial megaloblastic anaemia due to selective malabsorption of vitamin B-12. A family study and a review of the literature.

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9.

Broch H et al. (1984) Imerslund-Gräsbeck anemia. A long-term follow-up study.

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10.

Urban C et al. (1981) Congenital B12-malabsorption without proteinuria.

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11.

Lin SH et al. (1994) Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12.

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12.

Celep F et al. (1996) A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome.

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13.

Fyfe JC et al. (1991) Inherited selective intestinal cobalamin malabsorption and cobalamin deficiency in dogs.

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14.

MOLLIN DL et al. (1955) Addisonian pernicious anaemia without gastric atrophy in a young man.

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15.

LAMBERT HP et al. (1961) Pernicious anaemia in childhood. A report of two cases in one family and their relationship to the aetiology of pernicious anaemia.

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16.

None (1960) [Familiar selective vitamin B12 malabsorption with proteinuria. A pernicious anemia-like syndrome].

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17.

WATERS AH et al. (1963) Familial juvenile pernicious anaemia: a study of the hereditary basis of pernicious anaemia.

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18.

IMERSLUND O et al. (1963) FAMILIAL VITAMIN B12 MALABSORPTION.

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19.

SPURLING CL et al. (1964) JUVENILE PERNICIOUS ANEMIA.

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20.

LAMY M et al. (1961) [Specific malabsorption of vitamin B12 proteinuria. Megaloblastic anemia of Imerslund-Najman-Grasbeck. Study of 4 cases].

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21.

Rössler J et al. (2003) Late onset of Imerslund-Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon.

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22.

He Q et al. (2003) Canine Imerslund-Gräsbeck syndrome maps to a region orthologous to HSA14q.

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23.

Tanner SM et al. (2004) Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.

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24.

Tanner SM et al. (2005) Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.

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25.

GRASBECK R et al. (1960) Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome.

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26.

Nykjaer A et al. (2001) Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3).

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27.

Aminoff M et al. (1995) Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.

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28.

Bork P et al. (1993) The CUB domain. A widespread module in developmentally regulated proteins.

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29.

Seetharam B et al. (1997) Identification of rat yolk sac target protein of teratogenic antibodies, gp280, as intrinsic factor-cobalamin receptor.

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30.

Birn H et al. (1997) Characterization of an epithelial approximately 460-kDa protein that facilitates endocytosis of intrinsic factor-vitamin B12 and binds receptor-associated protein.

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31.

Moestrup SK et al. (1998) The intrinsic factor-vitamin B12 receptor and target of teratogenic antibodies is a megalin-binding peripheral membrane protein with homology to developmental proteins.

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32.

Kozyraki R et al. (1998) The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region.

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33.

Aminoff M et al. (1999) Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

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34.

Kozyraki R et al. (1999) The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein.

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35.

Xu D et al. (1999) Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption.

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36.

Kristiansen M et al. (2000) Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.

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37.

Fyfe JC et al. (2004) The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.

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38.

Andersen CB et al. (2010) Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes.

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39.

Storm T et al. (2011) A patient with cubilin deficiency.

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40.

Wang X et al. (1996) A candidate gene for the amnionless gastrulation stage mouse mutation encodes a TRAF-related protein.

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41.

Tomihara-Newberger C et al. (1998) The amn gene product is required in extraembryonic tissues for the generation of middle primitive streak derivatives.

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42.

None (1999) Moonlighting proteins.

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43.

None (2001) The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.

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44.

Dunn NR et al. (2001) How does the mouse get its trunk?

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45.

Kalantry S et al. (2001) The amnionless gene, essential for mouse gastrulation, encodes a visceral-endoderm-specific protein with an extracellular cysteine-rich domain.

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46.

Tanner SM et al. (2003) Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

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47.

Bouchlaka C et al. (2007) Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.

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48.

OMIM.ORG article

Omim 261100 external link
49.

Orphanet article

Orphanet ID 35858 external link
50.

Wikipedia article

Wikipedia EN (Imerslund–Gräsbeck_syndrome) external link
Update: Aug. 14, 2020
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