Disease #01679 (STSL1 (sitosterolemia, type 1 (STSL1)), OMIM:210250)

Official abbreviation STSL1
Name sitosterolemia, type 1 (STSL1)
OMIM ID 210250
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene ABCG8
Associated tissues -
Disease features -
Remarks -


Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00372099 STSL_P41 - - F no China Chinese - - - low-phytosterol diet STSL1 Hypercholesterolemia(HP:0003124), Hyperapobetalipoproteinemia(HP:0008158), Elevated circulating sitosterol concentration unknown(?HP:0033341), 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), ABCG5 ABCG5 1 1 Wenjuan Qiu
00372100 STSL_P18 - - F no China Chinese - - - low-phytosterol diet and ezetimibe STSL1 Hypercholesterolemia(HP:0003124), Hyperapobetalipoproteine(HP:0008158), Elevated circulating sitosterol concentration(HP:0033341), Chronic hemolytic anemia(HP:0004870), Thrombocytopenia (HP:0001873), Splenomegaly(HP:0001744), Stomatocytosis(HP:0004446), Tendon xanthomatosis(HP:0010874), No Abnormality of the liver(-HP:0001392), No Coronary artery atherosclerosis(-HP:0001677), No Arthralgia(-HP:0002829) ABCG5 ABCG5 2 2 Wenjuan Qiu
00372103 STSL_P19 - - F no China Chinese - - - low-phytosterol diet and ezetimibe STSL1 Hypercholesterolemia(HP:0003124),Elevated circulating sitosterol concentration(HP:0033341),Hyperapobetalipoproteinemia(HP:0008158),Chronic hemolytic anemia(HP:0004870),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 2 1 Wenjuan Qiu
00372105 STSL_P21 - - M no China Chinese - - - low-phytosterol diet and ezetimibe STSL1 Hypercholesterolemia(HP:0003124),Elevated circulating sitosterol concentration(HP:0033341), Hyperapobetalipoproteinemia(HP:0008158),Arthralgia(HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),No Splenomegaly(-HP:0001744),No Chronic hemolytic anemia(-HP:0004870),No Thrombocytopenia (-HP:0001873),No Stomatocytosis(-HP:0004446) ABCG5 ABCG5 1 1 Wenjuan Qiu
00372106 STSL_P23 - - M no China Chinese - - - low-phytosterol diet STSL1 Hypercholesterolemia(HP:0003124),Elevated circulating sitosterol concentration(HP:0033341),Hyperapobetalipoproteinemia(HP:0008158),Tendon xanthomatosis(HP:0010874),No Arthralgia(-HP:0002829),Coronary artery atherosclerosis unknown(?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) ABCG5 ABCG5 1 1 Wenjuan Qiu
00372389 STSL_P15 - - F no China Chinese - - - low-phytosterol diet and cholestyramine STSL1 No Hypercholesterolemia(-HP:0003124), No Hyperapobetalipoproteinemia(-HP:0008158), Elevated circulating sitosterol concentration(HP:0033341),Arthralgia(HP:0002829),No Coronary artery atherosclerosis(-HP:0001677), No Abnormality of the liver(-HP:0001392),Chronic hemolytic anemia(HP:0004870),Thrombocytopenia(HP:0001873), No Splenomegaly(-HP:0001744),No Stomatocytosis(-HP:0004446) Recurrent fever(HP:0001954) ABCG5 ABCG5 1 1 Wenjuan Qiu
00372390 STSL_P50 - - F no China Chinese ,Korean - - - low-phytosterol diet and ezetimibe STSL1 Hypercholesterolemia(HP:0003124),Elevated circulating sitosterol concentration(HP:0033341),Hyperapobetalipoproteinemia unknown(?HP:0008158),Xanthelasma(HP:0001114),Thrombocytopenia(HP:0001873),Arthralgia(HP:0002829),Splenomegaly(HP:0001744),Coronary artery atherosclerosis(HP:0001677),Recurrent fever(HP:0001954),No Abnormality of the liver(-HP:0001392),Stomatocytosis unknown(?HP:0004446) ABCG5 ABCG5 1 1 Wenjuan Qiu
00372394 STSL_P32 - - M no China Chinese - - - low-phytosterol diet STSL1 Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),Coronary artery atherosclerosis unknown(?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 unknown(-HP:0004446) ABCG5 ABCG5 1 1 Wenjuan Qiu
00372395 STSL_P46 - - M no China Chinese - - - low-phytosterol diet and ezetimibe STSL1 Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),Arthralgia(HP:0002829),Coronary artery atherosclerosis unknown(?HP:0001677),Abnormality of the liver(HP:0001392),Thrombocytopenia(HP:0001873),Splenomegaly(HP:0001744),Stomatocytosis unknown(?HP:0004446),Hepatic steatosis(HP:0001397),Vasculitis(HP:0002633), Recurrent fever(HP:0001954) ABCG5 ABCG5 1 1 Wenjuan Qiu
00372398 STSL_P55 - - M no China Chinese - - - low-phytosterol diet and ezetimibe STSL1 No Hypercholesterolemia(-HP:0003124),No Hyperapobetalipoproteinemia(-HP:0008158),Elevated circulating sitosterol concentration unknown(?HP:0033341),No Arthralgia(-HP:0002829),Coronary artery atherosclerosis(HP:0001677),No Abnormality of the liver(-HP:0001392),Chronic hemolytic anemia(HP:0004870),Splenomegaly(HP:0001744),Stomatocytosis(HP:0004446),Abnormal bleeding(HP:0001892),Membranous nephropathy(HP:0012578),Xanthelasma(HP:0001114),Polyclonal elevation of circulating IgG(HP:0032288) ABCG5 ABCG5 1 2 Wenjuan Qiu
00372399 STSL_P36 - - M no China Chinese - - - low-phytosterol diet and ezetimibe STSL1 Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),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), No Stomatocytosis(HP:0004446) ABCG5 ABCG5 1 1 Wenjuan Qiu
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