Abetalipoproteinemia; Abl
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).
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.
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 |
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![]() 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
Specificity
1 %
Genes
100 % |
![]() 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
Specificity
1 %
Genes
100 % |
![]() 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
Specificity
3 %
Genes
100 % |
![]() 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
Specificity
3 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
PCSK9, ANGPTL3, MTTP
Specificity
34 %
Genes
100 % |
![]() By Institute for Human Genetics University Clinic Freiburg (Germany).
MTTP
Specificity
100 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
You can get up to 38 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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