chylomicron retention disease
Findings
No curated finding names chylomicron retention disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.
Definition from the Mondo Disease Ontology (MONDO:0009528), read 2026-09-29. CC BY 4.0.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DiarrheaHPOHP:0002014
- Obligate (100% of cases)
- HypocholesterolemiaHPOHP:0003146
- Obligate (100% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Very frequent (80% to 99% of cases)
- Fat malabsorptionHPOHP:0002630
- Very frequent (80% to 99% of cases)
- RetinopathyHPOHP:0000488
- Very frequent (80% to 99% of cases)
- SteatorrheaHPOHP:0002570
- Very frequent (80% to 99% of cases)
- Abdominal distentionHPOHP:0003270
- Frequent (30% to 79% of cases)
- Abnormality of vitamin metabolismHPOHP:0100508
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Increased hepatocellular lipid dropletsHPOHP:0006565
- Frequent (30% to 79% of cases)
- VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
Reported absent (1)
- HypertriglyceridemiaHPOHP:0002155
Show the remaining 10
- EMG: myopathic abnormalitiesHPOHP:0003458
- Occasional (5% to 29% of cases)
- Hepatic steatosisHPOHP:0001397
- Occasional (5% to 29% of cases)
- Visual impairmentHPOHP:0000505
- Occasional (5% to 29% of cases)
- AcanthocytosisHPOHP:0001927
- Very rare (1% to 4% of cases)
- AreflexiaHPOHP:0001284
- Very rare (1% to 4% of cases)
- Impaired proprioceptionHPOHP:0010831
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SAR1BHGNC:10535
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: chylomicron retention disease
- Also called
- Anderson diseaseCMRDCRD