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Hyperalphalipoproteinemia 1 (HALP1)
Alias:
Cholesterol-Ester Transfer Protein Deficiency
|
Cholesteryl Ester Transfer Protein Deficiency
|
Familial Hyperalphalipoproteinemia
|
Cetp Deficiency
|
Halp1
|
Cholesterol Ester Transfer Protein Deficiency
|
Cept Deficiency
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyperalphalipoproteinemia 1 is a condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. It is a lipid metabolism disorder caused by a cholesterol-ester transfer protein deficiency, resulting in elevated levels of alpha-lipoprotein in the blood due to a mutation in the CETP gene on chromosome 16q13.
Related ID:
Basic Information
Inheritance | Age of Onset | Prevalence | Related Genes | Related Mouse Models | Reference | MALACARDS |
|---|---|---|---|---|---|---|
AD Autosomal dominant | Unknown | -- | 23 | 189 | 36 |
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