Chylomicron Retention Disease (CMRD)

Alias:
Anderson Disease
Cmrd
Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein in Intestinal Cells
Lipid Transport Defect of Intestine
Andd
Crd
Malabsorption Syndrome
Anderson Syndrome
Andersons Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chylomicron Retention Disease, also known as anderson disease, is related to hypolipoproteinemia and hypobetalipoproteinemia, familial, 2, and has symptoms including abdominal pain, constipation and diarrhea. An important gene associated with Chylomicron Retention Disease is SAR1B (Secretion Associated Ras Related GTPase 1B), and among its related pathways/superpathways are Metabolism and Vesicle-mediated transport. The drugs Benzocaine and Propofol have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are hypocholesterolemia and diarrhea
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
28
177
15

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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