Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Abetalipoproteinemia (ABL) is a rare autosomal recessive deficiency of apoB-containing lipoproteins caused by a microsomal triglyceride transfer protein (MTP) deficiency.
|
10446076 |
1999 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Abetalipoproteinemia (ABL) is a recessive disorder due to mutations of microsomal triglyceride transfer protein (MTP) gene.
|
14732481 |
2004 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
ABL and CRD are rare disorders due to mutations in the MTP and SARA2 genes, respectively.
|
17570373 |
2007 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
ABL results from mutations in the MTP gene; Ho-FHBL may be due to mutations in the APOB gene.
|
19056372 |
2009 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Abetalipoproteinemia (ABL; OMIM 200100) is an inherited disorder resulting from mutations in the microsomal triglyceride transfer protein gene and characterized by a major lipid malabsorption leading to extremely low plasma cholesterol and triglyceride levels and fat-soluble vitamins deficiencies.
|
19066957 |
2009 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Abetalipoproteinemia and homozygous hypobetalipoproteinemia are classical Mendelian autosomal recessive and co-dominant conditions, respectively, which are phenotypically similar and are usually caused by bi-allelic mutations in MTTP and APOB genes, respectively.
|
29540175 |
2018 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Abetalipoproteinemia (ABL) is a rare recessive monogenic disease due to MTTP (microsomal triglyceride transfer protein) mutations leading to the absence of plasma apoB-containing lipoproteins.
|
30875496 |
2019 |
Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Microsomal triglyceride transfer protein (MTP) is necessary for the assembly and secretion of VLDL and when the protein is not functional, such as in abetalipoproteinaemia, a steatohepatitis occurs.
|
10990076 |
2000 |
Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
ABL (ABL1) and ARG (ABL2) are highly homologous to each other in overall domain structure and amino-acid sequence, with the exception of their C termini.
|
28386107 |
2017 |
Abetalipoproteinemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia.
|
7782284 |
1995 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
|
8939939 |
1996 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
|
8939939 |
1996 |
Abetalipoproteinemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
|
8939939 |
1996 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A search for sequence variants in the large subunit of MTP in a kindred of 10 individuals from Saguenay-Lac-St Jean area with a propositus exhibiting ABL as well as in four independent patients from the greater Quebec city area and exhibiting very low apoB and LDL-cholesterol levels identified 12 variations.
|
14741197 |
2004 |
Abetalipoproteinemia
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.
|
24288038 |
2014 |
Abetalipoproteinemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.
|
17275380 |
2007 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.
|
17275380 |
2007 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Abetalipoproteinemia: two case reports and literature review.
|
18611256 |
2008 |
Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Abetalipoproteinemia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
BCR-ABL signals from patient RNA samples were quantified relative to known amounts of K562 RNA and normalised to levels of ABL.
|
11896544 |
2002 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cases of MTTP gene mutation is characterized by abetalipoproteinemia and remarkable hepatic steatosis or cirrhosis.
|
26458397 |
2015 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of mutations in MTP causing abetalipoproteinemia has revealed that the central α-helical and C-terminal β-sheet domains are important for protein disulfide isomerase binding and lipid transfer activity.
|
26224785 |
2015 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Characterization of mutations in MTP causing abetalipoproteinemia has revealed that the central α-helical and C-terminal β-sheet domains are important for protein disulfide isomerase binding and lipid transfer activity.
|
26224785 |
2015 |