Chylomicron Retention Disease
Description
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.
Clinical Features
Top most frequent phenotypes and symptoms related to Chylomicron Retention Disease
- Growth delay
- Failure to thrive
- Visual impairment
- Myopathy
- Vomiting
- Diarrhea
- Areflexia
- Elevated hepatic transaminase
- Retinopathy
- Hepatic steatosis
And another 10 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Chylomicron Retention Disease Is also known as crd, anderson disease, cmrd.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Chylomicron Retention Disease Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).
SAR1B, SLCO1B1, ABCG5, ABCG8, LMF1, SCARB1, APOA5, LDLRAP1, CETP, PCSK9, MYLIP, STAP1, GPIHBP1, CYP27A1, CYP7A1, ANGPTL3, APOC2, APOC3, APOE, LCAT , (...)
View the complete list with 5 more genes
Specificity
4 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
SAR1B, SI, SKIV2L, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, CFTR, TTC37, DGAT1, SLC26A3, FLNA, GUCY2C, LCT, MTTP, MYO5B, PCSK1, PNLIP
Specificity
5 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
SAR1B, SI, SKIV2L, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, CFTR, TTC37, DGAT1, SLC26A3, FLNA, GUCY2C, LCT, MTTP, MYO5B, PCSK1, PNLIP
Specificity
5 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
SAR1B, SI, SKIV2L, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, CFTR, TTC37, DGAT1, SLC26A3, FLNA, GUCY2C, LCT, MTTP, MYO5B, PCSK1, PNLIP
Specificity
5 %
Genes
100 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
SAR1B
Specificity
100 %
Genes
100 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
SAR1B
Specificity
100 %
Genes
100 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
SAR1B
Specificity
100 %
Genes
100 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
SAR1B
Specificity
100 %
Genes
100 % |
You can get up to 10 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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