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Mediterranean macrothrombocytopenia

Mediterranean macrothrombocytopenia is an autosomal recessive disorder caused by mutations of the ABCG5 and ABCG8 genes. These are the same genes that cause sitosterolemia. By constrast, In macrothrombocytopenia and stomatocytosis, the reduced number of platelets and hemolytic anemia dominate the clinical picture.

Systematic

Inheritable platelet disorders
Alloimmune thrombocytopenia
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
Bernard-Soulier syndrome
Bleeding disorder platelet-type 9
Glycoprotein 1a deficiency
IVIC syndrome
MYH9 related disorders
Mediterranean macrothrombocytopenia
ABCG5
ABCG8
Thrombasthenia of Glanzmann and Naegeli
Thrombocythemia 3
Wiskott–Aldrich syndrome

References:

1.

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5.

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11.

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13.

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None (1980) Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis.

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17.

Wang C et al. (1981) A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia.

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19.

Patel SB et al. (1998) Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.

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20.

Savoia A et al. (2001) Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

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21.

Lu K et al. (2001) High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus.

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22.

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23.

None (2003) Images in clinical medicine. Phytosterolemia and xanthomatosis.

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24.

Solcà C et al. (2005) Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.

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25.

Stewart GW et al. (2006) Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia.

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Buch S et al. (2007) A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

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30.

Bührdel P et al. (1990) Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency.

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31.

Baker L et al. (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.

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32.

Sia CL et al. (1969) Studies on the subunit structure of rabbit liver fructose diphosphatase.

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33.

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36.

Greene HL et al. (1972) "Ketotic hypoglycemia" due to hepatic fructose-1,6-diphosphatase deficiency: treatment with folic acid.

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37.

el-Maghrabi MR et al. (1995) Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.

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38.

Kikawa Y et al. (1995) Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.

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39.

Besley GT et al. (1994) Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity.

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40.

Rothschild CB et al. (1995) Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.

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41.

Kikawa Y et al. (1997) Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

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42.

Tillmann H et al. (1998) Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.

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43.

Berge KE et al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

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44.

Lee MH et al. (2001) Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

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45.

Lu K et al. (2001) Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

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46.

Repa JJ et al. (2002) Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.

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47.

Lu K et al. (2002) Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.

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48.

Matsuura T et al. (2002) Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.

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49.

Yu L et al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.

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50.

Sehayek E et al. (2002) Loci on chromosomes 14 and 2, distinct from ABCG5/ABCG8, regulate plasma plant sterol levels in a C57BL/6J x CASA/Rk intercross.

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51.

None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile.

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52.

Yang C et al. (2004) Disruption of cholesterol homeostasis by plant sterols.

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53.

Rees DC et al. (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.

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54.

Rios J et al. (2010) Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

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55.

OMIM.ORG article

Omim 210250 external link
56.

Orphanet article

Orphanet ID 101022 external link
57.

Wikipedia article

Wikipedia EN (Sitosterolemia) external link
Update: Aug. 14, 2020
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