defective apolipoprotein b-100
MONDO:0022949
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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Apolipoprotein B deficiency
Apolipoprotein B deficiency or "familial hypobetalipoproteinemia" is an autosomal disorder caused by one of several possible mutations, either recessive or dominant. In all such cases, it is characterized by low levels of low-density lipoprotein and apoB-100. Affected patients are also usually found with vitamin E deficiency. It is also known as "normotriglyceridemic hypobetalipoproteinemia".
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.