Disease #05931 (STSL (sitosterolemia (STSL)))

Official abbreviation STSL
Name sitosterolemia (STSL)
OMIM ID -
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 2 genes ABCG5, ABCG8
Associated tissues -
Disease features -
Remarks -


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00372400 STSL_P3 - - M no China Chinese - - - low-phytosterol diet STSL Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),No Chronic hemolytic anemia(-HP:0004870),No Thrombocytopenia(-HP:0001873),No Splenomegaly(-HP:0001744), Stomatocytosis unknown(?HP:0004446) ABCG8 ABCG8 2 1 Wenjuan Qiu
00372401 STSL_P6 - - F no China Chinese - - - low-phytosterol diet STSL Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),No Chronic hemolytic anemia(-HP:0004870),No Thrombocytopenia(-HP:0001873),Splenomegaly(HP:0001744),Stomatocytosis unknown(?HP:0004446) ABCG8 ABCG8 1 1 Wenjuan Qiu
00372402 STSL_P10 - - M no China Chinese - - - low-phytosterol diet and ezetimibe STSL Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia unknown(?HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),Chronic hemolytic anemia(HP:0004870),No Thrombocytopenia(-HP:0001873),No Splenomegaly(-HP:0001744), Stomatocytosis unknown(?HP:0004446) ABCG8 ABCG8 2 1 Wenjuan Qiu
00372404 STSL_P1 - - M no China Chinese - - - low-phytosterol diet STSL Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),No Chronic hemolytic anemia(-HP:0004870),No Thrombocytopenia(-HP:0001873),No Splenomegaly(-HP:0001744), No Stomatocytosis(-HP:0004446) ABCG8 ABCG8 1 1 Wenjuan Qiu
00375533 STSL_P56 - - F no China Chinese - - - low-phytosterol diet STSL Hypercholesterolemia(HP:0003124),Elevated circulating sitosterol concentration(HP:0033341),Hyperapobetalipoproteinemia(HP:0008158),No Chronic hemolytic anemia(-HP:0004870),No Stomatocytosis(-HP:0004446),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Splenomegaly(-HP:0001744),No Abnormality of the liver(-HP:0001392),No Thrombocytopenia(-HP:0001873) ABCG5 ABCG5 1 1 Wenjuan Qiu
00376449 STSL_P12 - - F no China Chinese - - - low-phytosterol diet STSL Hypercholesterolemia(HP:0003124),Elevated circulating sitosterol concentration(HP:0033341),Hyperapobetalipoproteinemia(HP:0008158),No Chronic hemolytic anemia(-HP:0004870),No Stomatocytosis(-HP:0004446),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Splenomegaly(-HP:0001744),No Abnormality of the liver(-HP:0001392),No Thrombocytopenia(-HP:0001873) ABCG8 ABCG8 1 1 Wenjuan Qiu
00376450 STSL_P54 - - F no China Chinese - - - low-phytosterol diet STSL Hypercholesterolemia(HP:0003124),Elevated circulating sitosterol concentration(HP:0033341),Hyperapobetalipoproteinemia(HP:0008158),No Chronic hemolytic anemia(-HP:0004870),No Stomatocytosis(-HP:0004446),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Splenomegaly(-HP:0001744),No Abnormality of the liver(-HP:0001392),No Thrombocytopenia(-HP:0001873) ABCG5 ABCG5 1 1 Wenjuan Qiu
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