chylomicron retention disease

Summary
Synonym
  • Anderson disease
  • CMRD
Definition
A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1.
Super Class
lipid metabolism disorder
External Links
Disease Ontology
DOID:0060357
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 40 of 49 in total
Gene ID Gene Symbol Description Source
6441 SFTPD surfactant protein D
6476 SI sucrase-isomaltase
6515 SLC2A3 solute carrier family 2 member 3
6609 SMPD1 sphingomyelin phosphodiesterase 1
7357 UGCG UDP-glucose ceramide glucosyltransferase
7369 UMOD uromodulin
7412 VCAM1 vascular cell adhesion molecule 1
8694 DGAT1 diacylglycerol O-acyltransferase 1
8972 MGAM maltase-glucoamylase
9415 FADS2 fatty acid desaturase 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024