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 |