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Hypercholesterolemia, Familial, 3 (FHCL3)
Alias:
Hypercholesterolemia, Autosomal Dominant, 3
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Hypercholesterolemia
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Hchola3
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Fhcl3
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Ldl - [low Density Lipoprotein} Hyperlipoproteinemia
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Low-Density-Lipoprotein-Type Hyperlipoproteinemia
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Low-Density-Lipoid-Type Hyperlipoproteinemia
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Hypercholesterolaemia, Unspecified
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Increased Low Density Lipoprotein
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Essential Hypercholesterolaemia
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Primary Hypercholesterolaemia
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Low-Density-Lipoprotein-Type
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Pure Hypercholesterolaemia
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Pure Hypercholesterinaemia
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Essential Cholesterolaemia
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Group a Hyperlipidaemia
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Hypercholesterolaemia
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Increased Cholesterol
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Group a Hyperlipemia
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High Cholesterol
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Cholesterolaemia
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Fh3
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial hypercholesterolemia-3 (FHCL3) is an autosomal dominant disorder characterized by elevated low-density lipoprotein (LDL) cholesterol levels, leading to xanthelasma, xanthomas, accelerated atherosclerosis, and increased risk of premature coronary heart disease. It is a genetic disorder with high cholesterol levels, particularly high LDL levels, and early cardiovascular disease. FHCL3 is associated with a selective increase in LDL particles in plasma, resulting in tendon and skin xanthomas, arcus corneae, and coronary artery disease. The disorder is inherited in an autosomal dominant manner. Varret et al. (1999) described a French family with hypercholesterolemia, while Haddad et al. (1999) reported a Utah kindred with similar characteristics. FHCL3 is a form of hypercholesterolemia, a condition characterized by high cholesterol levels in the blood, which can lead to various health complications related to lipid metabolism.
Related ID:
Basic Information
Inheritance | Age of Onset | Prevalence | Related Genes | Related Mouse Models | Reference | MALACARDS |
|---|---|---|---|---|---|---|
AD Autosomal dominant | Unknown | -- | 14 | 149 | 74 |
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