Bioinfo Tools
Antibody Discovery
Learn
Contact
EN
中文
Homozygous Familial Hypercholesterolemia (HOFH)
Alias:
Hofh
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Homozygous familial hypercholesterolemia is a rare disorder characterized by severely elevated total cholesterol and LDL cholesterol levels, leading to premature atherosclerotic plaque formation in arteries, increasing the risk of cardiovascular disease and death. Xanthomas in the skin and tendons are common. The condition is associated with genetic changes in the LDLR gene and is inherited in an autosomal dominant manner. Other hereditary forms of hypercholesterolemia can be caused by genetic changes in the APOB, LDLRAP1, or PCSK9 gene. Lifestyle choices and genetic variations can also contribute to high cholesterol levels.
Related ID:
Basic Information
Inheritance | Age of Onset | Prevalence | Related Genes | Related Mouse Models | Reference | MALACARDS |
|---|---|---|---|---|---|---|
AD Autosomal dominant AR Autosomal recessive | Newborn | 1-9/1000000 Annual incidence: 1-9/1000000 (Japan) Point prevalence: 1-9/1000000 (Worldwide, Spain, Denmark, Netherlands, Germany) | 11 | 63 | 325 |
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed