| Entry |
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| Name |
Chylomicron retention disease;
Anderson disease |
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| Description |
Chylomicron retention disease (CRD) is a rare autosomal recessive disorder characterized by malabsorption, failure to thrive (FTT), developmental difficulties, mental retardation, abnormal vibration sense, and hyporeflexia. CRD is caused by a mutation in the SAR1B gene, which codes for an essential component of the vesicular coat protein complex II (COPII) necessary for endoplasmic reticulum to Golgi transport.
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| Category |
Inherited metabolic disease
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| Brite |
Human diseases [BR:br08402]
Congenital disorders of metabolism
Congenital disorders of lipid/glycolipid metabolism
H00927 Chylomicron retention disease
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of lipoprotein metabolism or certain specified lipidaemias
5C81 Hypolipoproteinaemia
H00927 Chylomicron retention disease
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| Pathway |
| hsa04141 | Protein processing in endoplasmic reticulum |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, Samson-Bouma ME, Aggerbeck LP |
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| Title |
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. |
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| Journal |
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| LinkDB |
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