Sitosterolemia

Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in <i>ABCG5<i> (2p21) and <i>ABCG8</i> (2p21) genes.



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Total: 44 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(56.8%)		 21576934
 A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis.
Wang G, Wang Z, Liang J, Cao L, Bai X, Ruan C.
Acta Haematol. 2011;126(2):95-8.
Epistaxis Splenomegaly Anemia Stomatocytosis
ABCG5 ABCG8
p|SUB|R|419|H;RS#:119479067
ATP Binding Cassette Transporter, Subfamily G, Mem... ATP-Binding Cassette Transporters Adult Blood Platelets Cell Size Homo sapiens Hypercholesterolemia Intestinal Diseases Lipid Metabolism, Inborn Errors Lipoproteins Male Missense Mutation Splenomegaly Thrombocytopenia
2
(42.5%)		 16472606
 Liver transplantation in a patient with sitosterolemia and cirrhosis.
Miettinen TA, Klett EL, Gylling H, Isoniemi H, Patel SB.
Gastroenterology. 2006;130(2):542-7.
Cirrhosis Hemolytic anemia
ABCG5 ABCG8
ATP Binding Cassette Transporter, Subfamily G, Mem... ATP Binding Cassette Transporter, Subfamily G, Mem... ATP-Binding Cassette Transporters Adult Chromosome Mapping Females Homo sapiens Lipid Metabolism, Inborn Errors Lipoproteins Liver Liver Cirrhosis Male
3
(41.1%)		 25110228
 Sitosterolemia: a new mutation in a Mediterranean patient.
Melenotte C, Carrie A, Serratrice J, Weiller PJ.
J Clin Lipidol. 2014;8(4):451-4.
Xanthelasma Anemia Precocious atherosclerosis
ABCG5 ABCG8
ATP Binding Cassette Transporter, Subfamily G, Mem... ATP-Binding Cassette Transporters Anemia Anticholesteremic Agents Azetidines DNA Mutational Analysis Diet, Mediterranean Enterocytes Females France Homo sapiens Hypercholesterolemia Intestinal Diseases Lipid Metabolism, Inborn Errors Lipoproteins Middle Aged Mutation Thrombocytopenia
4
(34.0%)		 24623560
 A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.
Kaya Z, Niu DM, Yorulmaz A, Tekin A, Gursel T.
Pediatr Blood Cancer. 2014;61(8):1457-9.
Hemolytic anemia Stomatocytosis
ABCG5 ABCG8
c|SUB|G|IVS10-1|T
ATP Binding Cassette Transporter, Subfamily G, Mem... ATP Binding Cassette Transporter, Subfamily G, Mem... ATP-Binding Cassette Transporters Anticholesteremic Agents Azetidines Child Hematological Disease Homo sapiens Hypercholesterolemia Intestinal Diseases Lipid Metabolism, Inborn Errors Lipoproteins Male Point Mutation
5
(31.2%)		 25234565
 Severe hypercholesterolemia and phytosterolemia with extensive xanthomas in primary biliary cirrhosis: role of biliary excretion on sterol homeostasis.
Baila-Rueda L, Mateo-Gallego R, Lamiquiz-Moneo I, Cenarro A, Civeira F.
J Clin Lipidol. 2014;8(5):520-4.
Cholestasis Hypercholesterolemia
Adult Females Homeostasis Homo sapiens Hypercholesterolemia Intestinal Diseases Lipid Metabolism, Inborn Errors Sterols Xanthomatosis
6
(30.5%)		 27231115
 Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia.
Renner C, Connor WE, Steiner RD.
Clin Med Res. 2016;14(2):103-8.
Xanthomatosis Giant platelets Hypercholesterolemia
LDLR SLC15A3
Blood Platelets Child Differential Diagnosis Females Homo sapiens Homozygote Hypercholesterolemia Hypercholesterolemia, Familial Intestinal Diseases Lipid Metabolism, Inborn Errors Low Density Lipoprotein Receptor Sterols Xanthomatosis
7
(28.3%)		 28696550
 Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
Bastida JM, Benito R, Janusz K, Diez-Campelo M, Hernandez-Sanchez JM, Marcellini S, Giros M, Rivera J, Lozano ML, Hortal A, Hernandez-Rivas JM, Gonzalez-Porras JR.
J Thromb Haemost. 2017;15(9):1859-1866.
Thrombocytopenia Atherosclerosis Hypercholesterolemia
ABCG5 ABCG8
c|DEL|1890|T;RS#:769429015 c|SUB|C|914|G;RS#:143740796
ATP Binding Cassette Transporter, Subfamily G, Mem... Anticholesteremic Agents DNA Mutational Analysis Females Genetic Predisposition to Disease High-Throughput Nucleotide Sequencing Homo sapiens Hypercholesterolemia Intestinal Diseases Lipid Metabolism, Inborn Errors Lipoproteins Middle Aged Mutation Phenotype Spain Thrombocytopenia Xanthomatosis
7
(28.3%)		 27401767
 Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia.
Yamamoto T, Matsuda J, Dateki S, Ouchi K, Fujimoto W.
J Dermatol. 2016;43(11):1340-1344.
Arthritis Fever Atherosclerosis Macrothrombocytopenia
ABCG5 ABCG8
Females Homo sapiens Hypercholesterolemia Infant Intestinal Diseases Lipid Metabolism, Inborn Errors Skin Xanthomatosis
9
(27.2%)		 7258222
 A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia.
Wang C, Lin HJ, Chan TK, Salen G, Chan WC, Tse TF.
Am J Med. 1981;71(2):313-9.
Chronic hemolytic anemia
Adult Anemia, Hemolytic Cholestanols Homo sapiens Lipoidosis Spherocytes Xanthomatosis
10
(20.3%)		 29055934
 Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.
Bazerbachi F, Conboy EE, Mounajjed T, Watt KD, Babovic-Vuksanovic D, Patel SB, Kamath PS.
Ann Hepatol. 2017;16(6):970-978.
Cirrhosis
ATP Binding Cassette Transporter, Subfamily G, Mem... Anemia, Hemolytic Anticholesteremic Agents Biopsy Coronary Artery Disease DNA Mutational Analysis Electron Microscopy Fat-Restricted Diet Fatal Outcome Genetic Predisposition to Disease Heredity Homo sapiens Homozygote Hypercholesterolemia Intestinal Diseases Lipid Metabolism, Inborn Errors Lipoproteins Liver Cirrhosis Male Mutation Phenotype Xanthomatosis Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 19

HPO ID Term # of case reports
HP:0003124 Hypercholesterolemia 14
HP:0000991 Xanthomatosis 11
HP:0002621 Atherosclerosis 7
HP:0040185 Macrothrombocytopenia 4
HP:0001369 Arthritis 2
HP:0001394 Cirrhosis 2
HP:0002176 Spinal cord compression 2
HP:0004446 Stomatocytosis 2
HP:0004943 Accelerated atherosclerosis 2
HP:0001114 Xanthelasma 1
HP:0001658 Myocardial infarction 1
HP:0001744 Splenomegaly 1
HP:0001903 Anemia 1
HP:0001945 Fever 1
HP:0002064 Spastic gait 1
HP:0004416 Precocious atherosclerosis 1
HP:0008158 Hyperapobetalipoproteinemia 1
HP:0010550 Paraplegia 1
HP:0010980 Hyperlipoproteinemia 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
ABCG5 ATP binding cassette subfamily G member 5 64240
ABCG8 ATP binding cassette subfamily G member 8 64241