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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06858 | Lipoprotein lipase | |
| P08571 | Monocyte differentiation antigen CD14 | |
| P34949 | Mannose-6-phosphate isomerase | |
| Q9NX46 | ADP-ribosylhydrolase ARH3 |
