Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report 4 children with intestinal lipid malabsorption were found to have chylomicron retention disease due to 3 novel variants in the SAR1B gene.
|
31253576 |
2019 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Targeted next generation DNA sequencing revealed several rare heterozygous missense variants in both MTTP and APOB genes known or predicted to be deleterious, in addition to a novel heterozygous missense variant in SAR1B, which encodes the gene causing chylomicron retention disease.
|
29540175 |
2018 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sar1B GTPase is one of the critical proteins governing chylomicron secretion by the small intestine, and its mutations lead to chylomicron retention disease, despite the presence of Sar1A paralog.
|
28982670 |
2017 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Abetalipoproteinemia and chylomicron retention disease are due to mutations in the microsomal transfer protein and Sar1b-GTPase genes, which affect the secretion of apoB containing lipoproteins.
|
26546829 |
2016 |
Chylomicron retention disease
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Chylomicron retention disease
|
0.800 |
Biomarker
|
disease |
BEFREE |
Key messages: Sar1b depletion phenotype in zebrafish resembles Anderson disease deficits.
|
25559265 |
2015 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
|
23043934 |
2013 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Anderson disease is a rare inherited lipid malabsorption syndrome associated with hypocholesterolemia and linked to SAR1B mutations.
|
22441101 |
2012 |
Chylomicron retention disease
|
0.800 |
Biomarker
|
disease |
BEFREE |
This patient with AD/CMRD has a normal SAR1B gene protein coding sequence which suggests that factors other than the SAR1B protein may be crucial for chylomicron secretion.
|
22104167 |
2011 |
Chylomicron retention disease
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The expression of the SAR1B gene in duodenal biopsies from an AD/CMRD patient was significantly decreased whereas the expression of the SAR1A gene was significantly increased, as compared to healthy individuals.
|
21235735 |
2011 |
Chylomicron retention disease
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
The expression of the SAR1B gene in duodenal biopsies from an AD/CMRD patient was significantly decreased whereas the expression of the SAR1A gene was significantly increased, as compared to healthy individuals.
|
21235735 |
2011 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The rare recessive forms of primary monogenic HBL are represented by abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) due to mutations in MTP and SARA2 genes, respectively.
|
21874758 |
2011 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.
|
19846172 |
2010 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Through their inhibition of chylomicron secretion, mutations of the Sar1B gene coding for Sar1 GTPase are associated with chylomicron retention disease (CRD).
|
19285442 |
2009 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Chylomicron retention disease: a long term study of two cohorts.
|
19285442 |
2009 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease.
|
19274794 |
2009 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A determination of the specific mutation in Anderson disease or CMRD is required to ensure diagnosis and allow prompt therapeutic intervention in these children.
|
17945526 |
2008 |
Chylomicron retention disease
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities.
|
18786134 |
2008 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.
|
17945526 |
2008 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities.
|
18786134 |
2008 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.
|
17309654 |
2007 |
Chylomicron retention disease
|
0.800 |
Biomarker
|
disease |
BEFREE |
Sar1b is defective in chylomicron retention disease and Anderson disease, two rare recessive disorders characterized by severe fat malabsorption and a failure to thrive in infancy.
|
15017362 |
2004 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
|
12692552 |
2003 |
Chylomicron retention disease
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
|
12692552 |
2003 |
Chylomicron retention disease
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|