Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Imerslund-Grasbeck-Syndrom

Das Imerslund-Grasbeck-Syndrom ist eine autosomal rezessive megaloblastäre Anämie mit Proteinurie die durch Mutationen des intestinalen Intrinsic-Factor-Rezeptors ausgelöst wird. Dieser Rezeptor wird von den beiden Genen CUBN und AMN gebildet. Da dieser Rezeptor auch von proximalen Tubuluszellen verwendet wird um glomer filtriertes Eiweiß zu endozytieren resultiert bei Mutationen nicht nur ein Vitamin B-Mangel sondern auch eine tubuläre Proteinurie.

Gliederung

Endozytosestörungen der proximalen Tubulusfunktion
Donnai-Barrow-Syndrom
Imerslund-Grasbeck-Syndrom
AMN
CUBN

Referenzen:

1.

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

external link
2.

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

external link
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).

external link
4.

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

external link
5.

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

external link
6.

None (1972) Familial selective vitamin B 12 malabsorption.

external link
7.

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

external link
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.

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
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.

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
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.

external link
24.

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

external link
25.

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

external link
26.

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

external link
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.

external link
28.

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

external link
29.

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

external link
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.

external link
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.

external link
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.

external link
33.

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

external link
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.

external link
35.

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

external link
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.

external link
37.

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

external link
38.

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

external link
39.

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

external link
40.

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

external link
41.

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

external link
42.

None (1999) Moonlighting proteins.

external link
43.

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

external link
44.

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

external link
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.

external link
46.

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

external link
47.

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

external link
48.

OMIM.ORG article

Omim 261100 external link
49.

Orphanet article

Orphanet ID 35858 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz