Details of Disease | DrugMAP

General Information of Disease (ID: DISOUTV5)

Disease Name	Chylomicron retention disease
Synonyms	hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells; hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells; lipid Transport defect of intestine; chylomicron retention disease; CMRD; Anderson disease; CRD
Definition	Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.
Disease Hierarchy	DIS0TPI3: Hypobetalipoproteinemia DISOUTV5: Chylomicron retention disease
Disease Identifiers	MONDO ID MONDO_0009528 MESH ID C535460 UMLS CUI C0795956 OMIM ID 246700 MedGen ID 208651 Orphanet ID 71 SNOMED CT ID 702364003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MTTP	TTUS1RD	Disputed	Genetic Variation	[1]
APOB	TTN1IE2	Strong	Genetic Variation	[1]
TMPRSS15	TTXL0GC	Strong	Biomarker	[2]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GBE1	OTK2N05B	Strong	Biomarker	[3]
IQGAP1	OTZRWTGA	Strong	Altered Expression	[4]
PITPNA	OTTWC00K	Strong	Biomarker	[5]
SAR1A	OTSSRVGV	Strong	Altered Expression	[4]
SAR1B	OT0JZOMY	Strong	Autosomal recessive	[6]
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References

1	Novel mutations of SAR1B gene in four children with chylomicron retention disease.J Clin Lipidol. 2019 Jul-Aug;13(4):554-562. doi: 10.1016/j.jacl.2019.05.013. Epub 2019 May 30.
2	Rare genetic diseases with human lean and/or starvation phenotype open new avenues for obesity and type II diabetes treatment.Curr Pharm Biotechnol. 2014;14(13):1093-8. doi: 10.2174/1389201015666140408124559.
3	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.J Child Neurol. 2012 Feb;27(2):204-8. doi: 10.1177/0883073811415107. Epub 2011 Sep 13.
4	Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease). Orphanet J Rare Dis. 2011 Jan 14;6:1. doi: 10.1186/1750-1172-6-1.
5	Mice lacking phosphatidylinositol transfer protein-alpha exhibit spinocerebellar degeneration, intestinal and hepatic steatosis, and hypoglycemia.J Biol Chem. 2003 Aug 29;278(35):33501-18. doi: 10.1074/jbc.M303591200. Epub 2003 Jun 4.
6	PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.