KEGG   DISEASE: Chylomicron retention disease
Entry
H00927                      Disease                                

Name
Chylomicron retention disease;
Anderson disease
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.
Category
Inherited metabolic disease
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
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Gene
SAR1B [HSA:51128] [KO:K07953]
Other DBs
ICD-11: 5C81.1
ICD-10: E78.6
MeSH: C535460
OMIM: 246700
Reference
  Authors
Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, Samson-Bouma ME, Aggerbeck LP
  Title
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.
  Journal
Orphanet J Rare Dis 6:78 (2011)
DOI:10.1186/1750-1172-6-78
LinkDB

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