Hypobetalipoproteinemia, Familial, 2 (FHBL2)

Alias:
Familial Hypobetalipoproteinemia 2
Fhbl2
Familial Combined Hypobetalipoproteinemia Type 2
Combined Hypobetalipoproteinemia Familial
Hypobetalipoproteinemia, Familial, Type 2
Angiopoietin-Like Protein 3 Deficiency
Hypolipidemia, Familial, Combined
Combined Familial Hypolipidemia
Familial Combined Hypolipidemia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypobetalipoproteinemia, Familial, 2, also known as familial hypobetalipoproteinemia 2, is related to steatotic liver disease and hypoalphalipoproteinemia, primary, 2. An important gene associated with Hypobetalipoproteinemia, Familial, 2 is ANGPTL3 (Angiopoietin Like 3), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include liver and t cells, and related phenotypes are decreased ldl cholesterol concentration and hypotriglyceridemia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
13
105
30

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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