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chylomicron retention disease

MeSH: C535460ORPHA: 71

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with chylomicron retention disease, sourced from HPO and Orphanet clinical annotations.

DiarrheaHypocholesterolemiaRetinopathySteatorrheaFat malabsorptionElevated circulating hepatic transaminase concentrationFailure to thriveGrowth delayVomitingAbdominal distentionIncreased hepatocellular lipid dropletsAbnormality of vitamin metabolismVisual impairmentHepatic steatosisEMG: myopathic abnormalitiesAreflexiaAcanthocytosisMyopathyImpaired proprioception

Classification & Codes

MeSH Code

C535460

Orphanet Code

ORPHA:71
chylomicron retention disease
MeSHC535460
OrphanetORPHA:71
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO