autosomal recessive hypercholesterolemia

Summary
Synonym
  • ARH
  • ARH1
  • ARH2
  • FHCB1
  • FHCB2
  • autosomal recessive hypercholesterolemia 1
  • autosomal recessive hypercholesterolemia 2
  • familial autosomal recessive hypercholesterolemia
Definition
A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36.
Super Class
familial hypercholesterolemia
External Links
Disease Ontology
DOID:0090105
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
124 ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide
141 ADPRH ADP-ribosylarginine hydrolase
929 CD14 CD14 molecule
4023 LPL lipoprotein lipase
4351 MPI mannose phosphate isomerase
54936 ADPRS ADP-ribosylserine hydrolase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024