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 1 - 10 of 49 in total
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
275 AMT aminomethyltransferase
410 ARSA arylsulfatase A
411 ARSB arylsulfatase B
427 ASAH1 N-acylsphingosine amidohydrolase 1
1118 CHIT1 chitinase 1
1593 CYP27A1 cytochrome P450 family 27 subfamily A member 1
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1
2539 G6PD glucose-6-phosphate dehydrogenase
2548 GAA alpha glucosidase

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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