Hypobetalipoproteinemia, Familial, 2; Fhbl2

Table of contents:

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

Description

Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. Heritable primary causes of HBL include chylomicron retention disease (CMRD ), abetalipoproteinemia (OMIM ), and familial hypobetalipoproteinemia (FHBL) (summary by Martin-Campos et al., 2012).For a discussion of genetic heterogeneity of familial hypobetalipoproteinemia, see FHBL1 (OMIM ).

Genes related to Hypobetalipoproteinemia, Familial, 2; Fhbl2

ANGPTL3

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Clinical Features

Top most frequent phenotypes and symptoms related to Hypobetalipoproteinemia, Familial, 2; Fhbl2

Respiratory tract infection
Abnormality of the liver
Malabsorption
Hepatic steatosis
Abnormality of the cardiovascular system
Myocardial infarction
Pancreatitis
Malnutrition
Hyperthyroidism
Fat malabsorption

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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

Hypobetalipoproteinemia, Familial, 2; Fhbl2 Is also known as hypolipidemia, familial, combined.

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.

Hypobetalipoproteinemia, Familial, 2; Fhbl2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypolipidemia and Hypocholesterolemia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). PCSK9, ANGPTL3, MTTP Specificity 34 % 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 %
Hypobetalipoproteinemia, familial, 2. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). ANGPTL3 Specificity 100 % 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 %
Hypolipidemias. By Health in Code (Spain). SAR1B, PCSK9, MYLIP, ANGPTL3, APOC3, LCAT, ABCG1, MTTP Specificity 13 % Genes 100 %
Hypobetalipoproteinemia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain). PCSK9, ANGPTL3, MTTP Specificity 34 % Genes 100 %
ANGPTL3. By Fulgent Genetics Fulgent Genetics (United States). ANGPTL3 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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