All individuals with variants in gene ABCG5

19 entries on 1 page. Showing entries 1 - 19.
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00292745 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292746 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00292747 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00292748 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 21 Mohammed Faruq
00320289 CCP1 PubMed: Isbister 2020 - F - Australia Europe-NW - 0 - - CM see paper; ..., survived sudden cardiac arrest 1 1 Johan den Dunnen
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), 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 1 1 Wenjuan Qiu
00401208 family PubMed: Naqvi 2022 5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - 0 - - MCPH see paper; ..., small heads, mild-moderate intellectual disability, short stature, narrow and oval shaped faces, receding foreheads, large ears, prominent nose; attention deficit behavior, speech apraxia; never attended school; affected males spend time wandering streets, no concept of money, not able to perform any conceptual work, recognize relatives, find their way home, sense of self-respect, comfortable with strangers and are friendly 1 1 Johan den Dunnen
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