Abetalipoproteinemia; Abl

Table of contents:

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

Description

Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL ) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014).

Genes related to Abetalipoproteinemia; Abl

MTTP

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Clinical Features

Top most frequent phenotypes and symptoms related to Abetalipoproteinemia; Abl

Ataxia
Peripheral neuropathy
Rod-cone dystrophy
Abnormality of the liver
Retinopathy
Malabsorption
Retinal degeneration
Abnormality of skin pigmentation
Cirrhosis
Hepatic steatosis

And another 11 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

Abetalipoproteinemia; Abl Is also known as microsomal triglyceride transfer protein deficiency, acanthocytosis, bassen-kornzweig syndrome, mtp 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.

Abetalipoproteinemia; Abl Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories (United States). RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...) View the complete list with 139 more genes Panel complete gene list RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK, TGM1, TH, TTPA, UBE3A, UGT1A1, USH1C, USH2A, CLRN1, WAS, MCOLN1, NPHS2, CDH23, PCDH15, CAPN3, CBS, HPS3, LRPPRC, RTEL1, MLC1, DCLRE1C, ADA, CFTR, CHAT, POMGNT1, CHRNE, SUMF1, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, ADAMTS2, COL4A3, CPT1A, ETHE1, CPT2, GNE, MMACHC, TMEM216, CTNS, CTSK, CYBB, CYP1B1, CYP27A1, BBS10, DOK7, DBT, DHCR7, DLD, DMD, GNPTAB, DPYD, AGA, AGL, EIF2B5, AGXT, FAH, FANCC, FKTN, FH, FMR1, ALDH3A2, G6PC, G6PD, SLC37A4, GAA, GALC, GALT, ALDOB, GBA, GCDH, GJB2, GJB6, GLB1, GLDC, ALPL, GRHPR, AMT, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HMGCL, HSD17B4, IDUA, ABCC8, ELP1, IL2RG, ABCD1, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, MECP2, ARSA, MPI, MPL, ASL, MTTP, ASPA, ASS1, MYO7A, NBN, NEB, NPC1, NPHP1, NPHS1, ATM, OCRL, OTC, PAH, PC, PCCA, PCCB, ATP7B, SLC26A4, PEX1, PEX7, ACADM, PHGDH, SERPINA1, PKHD1, PLA2G6, PMM2, POLG, ACADVL, PPT1, PROP1, BBS1, BBS2, PTS, PEX2, BCKDHA, RAPSN, BCKDHB Specificity 1 % Genes 100 %
GeneAware Complete Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories (United States). RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...) View the complete list with 129 more genes Panel complete gene list RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1, TH, TTPA, UBE3A, UGT1A1, USH1C, USH2A, CLRN1, WAS, MCOLN1, NPHS2, CDH23, PCDH15, CAPN3, CBS, HPS3, LRPPRC, RTEL1, MLC1, DCLRE1C, ADA, CFTR, CHAT, POMGNT1, CHRNE, SUMF1, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, ADAMTS2, COL4A3, CPT1A, ETHE1, CPT2, GNE, MMACHC, TMEM216, CTNS, CTSK, CYP1B1, CYP27A1, BBS10, DOK7, DBT, DHCR7, DLD, GNPTAB, DPYD, AGA, AGL, EIF2B5, AGXT, FAH, FANCC, FKTN, FH, ALDH3A2, G6PC, SLC37A4, GAA, GALC, GALT, ALDOB, GBA, GCDH, GJB2, GJB6, GLB1, GLDC, ALPL, GRHPR, AMT, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HMGCL, HSD17B4, IDUA, ABCC8, ELP1, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, ARSA, MPI, MPL, ASL, MTTP, ASPA, ASS1, MYO7A, NBN, NEB, NPC1, NPHP1, NPHS1, ATM, PAH, PC, PCCA, PCCB, ATP7B, SLC26A4, PEX1, PEX7, ACADM, PHGDH, SERPINA1, PKHD1, PLA2G6, PMM2, POLG, ACADVL, PPT1, PROP1, BBS1, BBS2, PTS, PEX2, BCKDHA, RAPSN, BCKDHB Specificity 1 % Genes 100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories (United States). BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...) View the complete list with 19 more genes Panel complete gene list BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC, FKTN, FMR1, G6PC, GALT, GBA, HEXA, ABCC8, ELP1, MPL, MTTP, ASPA, NEB, ATP7B, PHGDH, PKHD1, PMM2, BBS2, PEX2, BCKDHB Specificity 3 % Genes 100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories (United States). BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, FAH, FANCC, FKTN , (...) View the complete list with 17 more genes Panel complete gene list BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, FAH, FANCC, FKTN, G6PC, GALT, GBA, HEXA, ABCC8, ELP1, MPL, MTTP, ASPA, NEB, ATP7B, PHGDH, PKHD1, PMM2, BBS2, PEX2, BCKDHB Specificity 3 % Genes 100 %
Hypolipidemia and Hypocholesterolemia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). PCSK9, ANGPTL3, MTTP Specificity 34 % Genes 100 %
MTTP. By Institute for Human Genetics University Clinic Freiburg (Germany). MTTP 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 %
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 %

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Sources and references

You can check the following sources for additional information.

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