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.

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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.


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Chylomicron Retention Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis.

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 %
Congenital Diarrhea Seq Analysis.

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 %
Congenital Diarrhea Del/Dup Panel.

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 %
Congenital Diarrhea Seq + Del/Dup Panel.

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 %
Vitamin K-dependent clotting factors combined deficiency type 1.

By Centogene AG - the Rare Disease Company (Germany).

SAR1B
Specificity
100 %
Genes
100 %
Dyschromatosis universalis hereditaria type 3.

By Centogene AG - the Rare Disease Company (Germany).

SAR1B
Specificity
100 %
Genes
100 %
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency.

By Centogene AG - the Rare Disease Company (Germany).

SAR1B
Specificity
100 %
Genes
100 %
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency.

By Centogene AG - the Rare Disease Company (Germany).

SAR1B
Specificity
100 %
Genes
100 %

We have 10 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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