| H00927 | |
| H number | H00927 |
| 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 disorder |
| Network | - |
| Gene | SAR1B [HSA:51128] [KO:K07953] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C81.1 ICD-10: E78.6 MeSH: C535460 OMIM: 246700 |
| Reference | PMID:22104167 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 |