Chylomicron retention disease
- Synonyms
- Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells; Lipid transport defect of intestine
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- John R Burnett
- Amanda J Hooper
- Robert A Hegele
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (19 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Decreased LDL cholesterol concentration
Decreased LDL cholesterol concentration
- MedGen UID: 776554
- Concept ID: C0853085
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypoalbuminemia
Hypoalbuminemia
- MedGen UID: 68694
- Concept ID: C0239981
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypocholesterolemia
Hypocholesterolemia
- MedGen UID: 57479
- Concept ID: C0151718
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypotriglyceridemia
Hypotriglyceridemia
- MedGen UID: 488913
- Concept ID: C0542037
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Decreased LDL cholesterol concentration
- Abnormality of the digestive system
- Accumulation of lipid droplets in small-bowel enterocytes
Accumulation of lipid droplets in small-bowel enterocytes
- MedGen UID: 1842115
- Concept ID: C5826662
- Finding: Finding
Abnormality of the digestive system
- Diarrhea
Diarrhea
- MedGen UID: 8360
- Concept ID: C0011991
- Finding: Sign or Symptom
Abnormality of the digestive system
- Malnutrition
Malnutrition
- MedGen UID: 56429
- Concept ID: C0162429
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Steatorrhea
Steatorrhea
- MedGen UID: 20948
- Concept ID: C0038238
- Finding: Finding
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Accumulation of lipid droplets in small-bowel enterocytes
- Abnormality of the nervous system
- Impaired vibratory sensation
Impaired vibratory sensation
- MedGen UID: 220959
- Concept ID: C1295585
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Reduced tendon reflexes
Reduced tendon reflexes
- MedGen UID: 356648
- Concept ID: C1866934
- Finding: Finding
Abnormality of the nervous system
- Impaired vibratory sensation
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Failure to thrive
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