Disease #01378

Official abbreviation -
Name hypercholesterolemia, autosomal dominant, type B
OMIM ID 144010
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 51
Phenotype entries for this disease 48
Associated with 1 gene APOB
Associated tissues -
Disease features -
Remarks -


Individuals

51 entries on 1 page. Showing entries 1 - 51.
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00033731 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033768 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Benedikt Reiz
00033771 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033772 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033773 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033774 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - PCSK9 1 1 Benedikt Reiz
00033775 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 2 1 Ingrid Braenne
00033776 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - PCSK9 1 1 Benedikt Reiz
00033777 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 2 1 Mariana Kleinecke
00033778 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033779 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033780 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - STAP1 1 1 Benedikt Reiz
00033781 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033782 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033783 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 2 1 Mariana Kleinecke
00033784 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033785 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033786 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Benedikt Reiz
00033787 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 2 1 Mariana Kleinecke
00033788 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033789 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033790 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033791 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Benedikt Reiz
00033792 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033793 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - LDLR 1 1 Ingrid Braenne
00033794 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Mariana Kleinecke
00033795 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Benedikt Reiz
00033796 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 2 1 Benedikt Reiz
00033797 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Benedikt Reiz
00033798 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Mariana Kleinecke
00033799 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Benedikt Reiz
00033800 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Benedikt Reiz
00033801 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Benedikt Reiz
00033802 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Mariana Kleinecke
00033803 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Benedikt Reiz
00033804 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Benedikt Reiz
00033805 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Benedikt Reiz
00033806 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Mariana Kleinecke
00033807 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - - APOB 1 1 Mariana Kleinecke
00058841 - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - MCI-1, hypercholesterolemia, autosomal dominant, type B - APOB APOB 1 1 Johan den Dunnen
00079911 - PubMed: Fouchier 2014 - - - - - - 0 - - hypercholesterolemia, autosomal dominant, type B - STAP1 STAP1 1 1 Jelena Čalyševa
00104072 FHF-105 PubMed: Setia 2016, Journal: Setia 2016 sibings unaffected; parents and proband have high total and LDL cholesterol F no India - >14y 0 - Atorvastatin-20mg hypercholesterolemia, autosomal dominant, type B tendon Xanthomas(HP:0010874);Arcus Senilis (HP:0001084) LDLR LDLR 1 1 Nitika Setia
00249450 - - family with 4 affecteds - - United Kingdom (Great Britain) - - 0 - - hypercholesterolemia, autosomal dominant, type B hypercholesterolaemia with tendon xanthomas APOB APOB 1 4 Ellen Thomas
00249455 - - - - - - - - 0 - - hypercholesterolemia, autosomal dominant, type B - APOB APOB 1 1 Amanda Hooper
00249456 - PubMed: Pullinger 1995 2 families (8 patients) - - - - - 0 - - hypercholesterolemia, autosomal dominant, type B - APOB APOB 1 8 Amanda Hooper
00249570 - PubMed: Alves 2014 - - - Portugal - - 0 - - hypercholesterolemia, autosomal dominant, type B - APOB APOB 1 4 -
00249617 - PubMed: Gaffney 1995 - - - United Kingdom (Great Britain) - - 0 - - hypercholesterolemia, autosomal dominant, type B - APOB APOB 1 1 Amanda Hooper
00249618 - PubMed: Soria 1989 - - - - - - 0 - - hypercholesterolemia, autosomal dominant, type B - APOB APOB 1 1 Amanda Hooper
00249619 - PubMed: Fouchier 2005 - - - Netherlands - - 0 - - hypercholesterolemia, autosomal dominant, type B - APOB APOB 1 1 Amanda Hooper
00249624 - PubMed: Soufi 2004 - - - Germany - - 0 - - hypercholesterolemia, autosomal dominant, type B - APOB APOB 1 4 Amanda Hooper
00249640 - PubMed: Alves 2014 - - - Portugal - - 0 - - hypercholesterolemia, autosomal dominant, type B - APOB APOB 1 5 -
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