Lipase Deficiency, Combined

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.

Genes related to Lipase Deficiency, Combined

LMF1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Lipase Deficiency, Combined

Abnormality of metabolism/homeostasis
Obesity
Type II diabetes mellitus
Hypertriglyceridemia
Pancreatitis
Atherosclerosis
Lipodystrophy
Overweight
Hyperlipoproteinemia
Acute pancreatitis

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

Lipase Deficiency, Combined Is also known as lpl and htgl deficiency, lpl and hl deficiency, lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency.

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.

Lipase Deficiency, Combined Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypertriglyceridemias Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). LMF1, APOA5, GPIHBP1, APOC2 Specificity 25 % Genes 100 %
LMF1. By Institute for Human Genetics University Clinic Freiburg (Germany). LMF1 Specificity 100 % Genes 100 %
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 Specificity 4 % Genes 100 %
Type 3 hyperlipoproteinemia. By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal (Norway). LMF1, APOA5, GPIHBP1, APOC2 Specificity 25 % Genes 100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RYR1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SGCD, SGCG, BRAF, SLC25A4, SNTA1, SOS1, SREBF2, TAZ, TBX3, TBX5, TCAP, TGFB2, TGFB3 , (...) View the complete list with 143 more genes Panel complete gene list RYR1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SGCD, SGCG, BRAF, SLC25A4, SNTA1, SOS1, SREBF2, TAZ, TBX3, TBX5, TCAP, TGFB2, TGFB3, TGFBR2, KLF10, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, ZIC3, ACTA1, ZBTB17, ACTA2, MYOZ2, SLC2A10, ABCG5, ABCG8, CACNA1C, CACNA2D1, PRDM16, CACNB2, LMF1, JPH2, ACTC1, CALM1, CRELD1, CASQ2, CAV3, CBL, SHOC2, CBS, LDB3, ANKRD1, SALL4, ZHX3, SELENON, TRIM63, MYLK2, ACTN2, HCN4, APOA5, RANGRF, TRPM4, FKRP, LDLRAP1, CETP, CREB3L3, CALR3, SCN3B, PDLIM3, MIB1, COL3A1, COL5A2, COX15, MYPN, DOLK, CRYAB, CSRP3, NKX2-5, GPIHBP1, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DPP6, HSPB8, DSC2, DSG2, DSP, DNAJC19, DTNA, EFEMP2, ELN, EMD, CAVIN4, EYA4, FBN1, FBN2, FKTN, FHL1, FHL2, AKAP9, GAA, GCKR, GJA5, ALMS1, GLA, HADHA, HFE, ANK2, HRAS, ABCC9, APOA4, ILK, APOC2, APOE, JAG1, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA2, LAMA4, LAMP2, LDLR, LMNA, LTBP2, SMAD3, SMAD4, MAP2K1, MAP2K2, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYO6, NODAL, NOTCH1, NPPA, NRAS, PKP2, PLN, PRKAG2, PRKAR1A, BAG3, PTPN11, RAF1 Specificity 1 % Genes 100 %
Hypertriglyceridemia. By Asper Biogene Asper Biogene LLC (Estonia). LMF1, APOA5, GPIHBP1, GPD1, APOC2 Specificity 20 % Genes 100 %
Cardiovascular Diseases_General Panel. By Health in Code (Spain). RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD , (...) View the complete list with 351 more genes Panel complete gene list RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD, SKI, SLCO1B1, SLC22A5, BRAF, SLC22A8, SLC25A3, SLC25A4, SLC2A2, SNTA1, SOS1, SOS2, SURF1, TAZ, TBX1, TBX20, TBX5, TCAP, HNF1A, HNF1B, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, KLF10, KLF11, TMPO, TNNC1, TNNI3, TNNT2, MED12, TPM1, TRDN, TSFM, MYOT, TTN, TTR, VCL, WFS1, XK, ZIC3, ZMPSTE24, ACTA1, ACTA2, MYOZ2, SLC2A10, GFM1, NEUROG3, ABCG5, ABCG8, CACNA1C, CACNA1D, CACNA2D1, PRDM16, CACNB2, LMF1, ELAC2, JPH2, ACTC1, IRX3, CALM1, CALM2, KCNK17, CALM3, MRPS22, CRELD1, PCDH15, CAPN3, CASQ2, CAV1, CAV3, CBL, SHOC2, CBS, LDB3, OBSCN, GATA5, ANKRD1, BSCL2, SALL4, TRIM63, MYLK2, ACTN2, LIAS, SCARB1, SLMAP, MRPL44, ZFPM2, NOS1AP, HCN4, TRIB1, SPEG, NEBL, TOPBP1, TAB2, SYNE2, SYNE1, ACVR1, APOA5, ACVR2B, ACVRL1, PERP, GREM2, RANGRF, TRPM4, FKRP, COA6, TXNRD2, CFC1, ZDHHC9, CEL, IER3IP1, FKBP14, LDLRAP1, CETP, ATPAF2, PPP1R13L, CH25H, NPHP4, TBC1D4, MTO1, CHRM2, TNNI3K, EIF2AK4, ADAMTSL4, CITED2, PCSK9, SPRED1, CALR3, UPF3B, INSIG2, CHD7, SCN3B, PDLIM3, SLC39A13, BMP10, AARS2, MIB1, MYLIP, RFX6, ACAD9, ADAMTS2, AGK, COL1A2, COL3A1, COL5A1, COL5A2, COL7A1, COX15, COX6B1, MED13L, MYPN, CPT2, A2ML1, DOLK, CREBBP, PTF1A, CRYAB, CIDEC, CHST14, KANSL1, EHMT1, CSRP3, NKX2-5, GPIHBP1, CTNNA3, CTNNB1, COQ2, MCTP2, TMEM70, FHOD3, CYP2D6, CYP3A4, CYP3A5, FOXRED1, ANO5, RBM20, DES, TMEM43, GLIS3, GPD1L, DLD, OBSL1, DMD, TOR1AIP1, NEXN, GNPTAB, MFAP5, SLC25A40, DNM1L, GATAD1, DSC2, DSG2, DSP, DNAJC19, DTNA, PNPLA2, LEFTY2, AGL, EFEMP2, AGPAT2, EIF2AK3, NKX2-6, ELN, EMD, ENG, EP300, CAVIN4, COA5, EVC, EYA4, FAH, FBN1, FBN2, FKTN, FGF12, FHL1, FHL2, FLNA, FLNC, AKAP9, FOXC1, FOXD4, FOXF1, FOXH1, FOXP1, AKT2, FXN, ABCB1, GAA, GATA4, GATA6, GCK, GDF1, GDF2, GJA1, GJA5, ALMS1, GLA, GLB1, GPD1, AMPD1, GUSB, HAND2, HFE, ANGPTL3, ANK2, ANK3, HNF4A, HRAS, IDH2, ABCC9, ILK, INS, APOC2, INSR, APOC3, FOXP3, PDX1, IRX4, APOE, ISL1, JAG1, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ11, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KRAS, LAMA2, LAMA4, LAMP2, LCAT, LDLR, LEP, LIPA, LIPC, LMNA, LRP6, LZTR1, SMAD1, SMAD3, SMAD4, SMAD6, SMAD9, MAP2K1, MAP2K2, MEF2A, KMT2D, MLYCD, ABCG1, MTTP, MYBPC3, MYH11, ASPH, MYH6, MYH7, MYL2, MYL3, MYLK, MYOM1, NEUROD1, NF1, ZFHX3, NNT, NODAL, NOTCH1, NOTCH2, NOTCH3, NPC1L1, NPPA, NRAS, OPA3, ATP5F1E, PAX4, ATP7A, PDGFRA, PDHA1, PHKA1, PITX2, PKP2, PKP4, PLIN1, PLN, PLOD1, PMM2, ACADVL, B3GAT3, PPARG, B4GALT7, PRKAG2, BAG3, PRKG1, PSEN1, PSEN2, PTPN11, CAVIN1, PYGM, RAF1, RASA1, RASA2 Specificity 1 % Genes 100 %
Dyslipidemias / Early atherosclerosis. By Health in Code (Spain). RYR1, SAR1B, BLK, SLCO1B1, SLC22A8, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, ZMPSTE24, NEUROG3, ABCG5, ABCG8, LMF1, PCDH15, CAV1, BSCL2, SCARB1, TRIB1 , (...) View the complete list with 57 more genes Panel complete gene list RYR1, SAR1B, BLK, SLCO1B1, SLC22A8, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, ZMPSTE24, NEUROG3, ABCG5, ABCG8, LMF1, PCDH15, CAV1, BSCL2, SCARB1, TRIB1, APOA5, CEL, IER3IP1, LDLRAP1, CETP, CH25H, TBC1D4, PCSK9, INSIG2, MYLIP, RFX6, CPT2, PTF1A, CIDEC, GPIHBP1, COQ2, CYP2D6, CYP3A4, CYP3A5, GLIS3, SLC25A40, PNPLA2, AGPAT2, EIF2AK3, AKT2, ABCB1, GATA6, GCK, GPD1, AMPD1, ANGPTL3, HNF4A, INS, APOC2, INSR, APOC3, FOXP3, PDX1, APOE, KCNJ11, LCAT, LDLR, LEP, LIPA, LIPC, LMNA, LRP6, MEF2A, ABCG1, MTTP, NEUROD1, NPC1L1, PAX4, PLIN1, PPARG, CAVIN1, PYGM Specificity 2 % Genes 100 %

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Sources and references

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