Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 GeneticVariation disease BEFREE We report a new variant in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia in a woman of central European ancestry. 30876877 2020
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 GeneticVariation disease BEFREE A new variant (c.1A>G) in LDLRAP1 causing autosomal recessive hypercholesterolemia: Characterization of the defect and response to PCSK9 inhibition. 30777337 2019
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 Biomarker disease BEFREE Our results also indicate that ARH1 carrier status is present in ∼1:2500 of Sicilian inhabitants, confirming that ARH is extremely rare outside Sardinia. 29153781 2019
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 GeneticVariation disease BEFREE At the age of 28 years, homozygous LDLRAP1 gene variant NM_015627.2:c.488A>C, NP_056442.2:p.(Gln163Pro) causing autosomal recessive hypercholesterolemia was determined by genetic testing. 31734096 2019
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 Biomarker disease GENOMICS_ENGLAND Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). 29245109 2018
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 Biomarker disease BEFREE Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). 29348020 2018
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 Biomarker disease BEFREE Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). 29245109 2018
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 GeneticVariation disease BEFREE Two patients were homozygous for pathogenic variants in LDLRAP1 gene resulting in autosomal recessive hypercholesterolemia. 28965616 2017
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 CausalMutation disease CLINVAR Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy. 27247956 2016
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 Biomarker disease BEFREE The loss of function of this protein is the cause of Autosomal Recessive Hypercholesterolemia (ARH). 25225128 2015
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 Biomarker disease BEFREE Pharmacological treatment of a Sardinian patient affected by Autosomal Recessive Hypercholesterolemia (ARH). 25670367 2015
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 GeneticVariation disease BEFREE We identified a family with autosomal recessive hypercholesterolemia not explained by mutations in LDLRAP1 or other genes known to cause monogenic hypercholesterolemia. 24072694 2013
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 CausalMutation disease CLINVAR Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo. 22157599 2012
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 CausalMutation disease CLINVAR A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene. 21872251 2011
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 Biomarker disease BEFREE The ARH protein is involved in cell cycle progression, possibly by affecting nuclear membrane formation through interaction with lamin B1 or other mitotic proteins, and its absence affects cell proliferation and induces premature senescence, which may play a role in the development of atherosclerosis in ARH. 21778424 2011
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 Biomarker disease BEFREE Autosomal recessive hypercholesterolemia (ARH) is an extremely rare inherited hypercholesterolemia, the cause of which is mutations in low-density lipoprotein (LDL) receptor adaptor protein 1 (LDLRAP1) gene. 21872251 2011
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 GeneticVariation disease BEFREE ARH is rare except in Sardinia where three alleles (ARH1, ARH2 and ARH3) explain most of cases. 19477448 2009
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 Biomarker disease BEFREE Immortalized lymphocytes and monocyte-macrophages, and presumably hepatocytes, from ARH patients fail to take up and degrade plasma low density lipoproteins (LDL) because they lack LDLRAP1, a cargo-specific adaptor required for clathrin-mediated endocytosis of the LDL receptor. 17761685 2007
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 Biomarker disease BEFREE Autosomal recessive hypercholesterolemia (ARH) is a rare genetic defect that causes marked elevation of plasma low-density lipoprotein cholesterol (LDL-C) and premature atherosclerosis. 17686643 2007
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 Biomarker disease BEFREE Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. 16343504 2006
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 GeneticVariation disease BEFREE Recently, the responsible gene at the 1p35 locus, encoding an LDL receptor adaptor protein (ARH) has been identified. 15599766 2005
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 Biomarker disease MGD Disruption of autosomal recessive hypercholesterolemia gene shows different phenotype in vitro and in vivo. 15472122 2004
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 CausalMutation disease CLINVAR Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment. 15485476 2004
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 Biomarker disease BEFREE Mutations in a putative low-density lipoprotein (LDL) receptor adaptor protein called ARH have been recently described in patients with autosomal recessive hypercholesterolemia (ARH). 15497461 2004
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
1.000 CausalMutation disease CLINVAR Clinical features and genetic analysis of autosomal recessive hypercholesterolemia. 12788851 2003