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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Narrow down the case reports

Total: 44 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
11 (19.3%)	9152615	beta-Sitosterolemia with generalized eruptive xanthomatosis. Hidaka H, Sugiura H, Nakamura T, Kojima H, Fujita M, Sugie N, Okabe H, Nishio Y, Maegawa H, Kashiwagi A, Kikkawa R. Endocr J. 1997;44(1):59-64. [ Show abstract ] [ Hide abstract ]
		Xanthomatosis Hypercholesterolemia


		Child Females Homo sapiens Lipid Metabolism, Inborn Errors Lipids Skin Xanthomatosis
11 (19.3%)	7263974	Normolipemic tendon and tuberous xanthomas. Fleischmajer R, Tint GS, Bennett HD. J Am Acad Dermatol. 1981;5(3):290-6. [ Show abstract ] [ Hide abstract ]
		Xanthomatosis Hypercholesterolemia


		Adult Cholestanols Females Homo sapiens Lipids Skin Sterols Xanthomatosis
11 (19.3%)	7204688	Phytosterolemia and type IIa hyperlipoproteinemia with tuberous xanthomas. Matsuo I, Yoshino K, Ozawa A, Ohkido M. J Am Acad Dermatol. 1981;4(1):47-9. [ Show abstract ] [ Hide abstract ]
		Xanthomatosis Hyperlipoproteinemia


		Child, Preschool Homo sapiens Hypercholesterolemia, Familial Male Xanthomatosis
11 (19.3%)	3731582	Tendon xanthomas associated with cholestanolosis and hyperapobetalipoproteinemia. Lussier-Cacan S, Cantin M, Roy CC, Sniderman AD, Nestruck AC, Davignon J. Clin Invest Med. 1986;9(2):94-9. [ Show abstract ] [ Hide abstract ]
		Hypercholesterolemia Tuberous xanthoma
		APOB

		Adult Apolipoproteins B Bile Acids and Salts Dietary Fats Females Homo sapiens Hyperlipoproteinemias Lipoproteins Sterols Triglycerides Xanthomatosis
15 (18.9%)	16697747	Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. Salen G, Starc T, Sisk CM, Patel SB. Gastroenterology. 2006;130(6):1853-7. [ Show abstract ] [ Hide abstract ]
		Xanthomatosis Accelerated atherosclerosis


		Anticholesteremic Agents Azetidines Child Combination Drug Therapy Dose-Response Relationship, Drug Drug Administration Schedule Females Follow-Up Studies Health Risk Assessment Homo sapiens Severity of Illness Index Xanthomatosis
15 (18.9%)	4067433	Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis. Salen G, Horak I, Rothkopf M, Cohen JL, Speck J, Tint GS, Shore V, Dayal B, Chen T, Shefer S. J Lipid Res. 1985;26(9):1126-33. [ Show abstract ] [ Hide abstract ]
		Xanthomatosis Atherosclerosis


		Adult Aorta Arteriosclerosis Coronary Vessels Females Homo sapiens Lipid Metabolism, Inborn Errors Male Middle Aged Myocardial Infarction Sterols Xanthomatosis
15 (18.9%)	2380636	Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis. Hidaka H, Nakamura T, Aoki T, Kojima H, Nakajima Y, Kosugi K, Hatanaka I, Harada M, Kobayashi M, Tamura A, et al.. J Lipid Res. 1990;31(5):881-8. [ Show abstract ] [ Hide abstract ]
		Xanthomatosis Atherosclerosis


		Adult Child Females Heterozygote Homo sapiens Lipids Male Middle Aged Xanthomatosis
15 (18.9%)	2251034	Response to diet and cholestyramine in a patient with sitosterolemia. Belamarich PF, Deckelbaum RJ, Starc TJ, Dobrin BE, Tint GS, Salen G. Pediatrics. 1990;86(6):977-81. [ Show abstract ] [ Hide abstract ]
		Xanthomatosis Atherosclerosis


		Arteriosclerosis Child Combined Modality Therapy Homo sapiens Hypercholesterolemia Lipid Metabolism, Inborn Errors Male Xanthomatosis
15 (18.9%)	1477463	Familial spinal xanthomatosis with sitosterolemia. Hidaka H, Yasuda H, Kobayashi M, Hatanaka I, Takahashi M, Matsumoto K, Itoh R, Okabe H, Kikkawa R, Shigeta Y. Intern Med. 1992;31(8):1038-42. [ Show abstract ] [ Hide abstract ]
		Xanthomatosis Atherosclerosis


		Females Homo sapiens Magnetic Resonance Imaging Middle Aged Paresis Spinal Neoplasms Wolman Disease
20 (17.0%)	30782472	Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review. Su X, Shao Y, Lin Y, Zhao X, Zhang W, Jiang M, Huang Y, Zeng C, Liu L, Li X. J Clin Lipidol. 2019;13(2):246-250. [ Show abstract ] [ Hide abstract ]
		Atherosclerosis Hypercholesterolemia
		ABCG5

		ATP Binding Cassette Transporter, Subfamily G, Mem... Child Child, Preschool Females Homo sapiens Hypercholesterolemia Intestinal Diseases Lipid Metabolism, Inborn Errors Missense Mutation

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