Hyperlipoproteinemia, Type I

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

Hyperlipoproteinemia, Type I Is also known as lpl deficiency, hyperchylomicronemia, familial, lipase d deficiency, lipd deficiency, lipoprotein lipase deficiency, hyperlipemia, essential familial, chylomicronemia, familial, hyperlipemia, idiopathic, burger-grutz type, hyperlipoproteinemia, type ia.

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.

Hyperlipoproteinemia, Type I 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 Panel complete gene list SAR1B, SLCO1B1, ABCG5, ABCG8, LMF1, SCARB1, APOA5, LDLRAP1, CETP, PCSK9, MYLIP, STAP1, GPIHBP1, CYP27A1, CYP7A1, ANGPTL3, APOC2, APOC3, APOE, LCAT, LDLR, LIPA, LIPC, LIPG, MTTP Close 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 %

Sources and references

You can check the following sources for additional information.

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