H00927 | |
H番号 | H00927 |
名称 | カイロミクロン停滞病 |
概要 | 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. |
カテゴリ | 先天性代謝異常症 |
ネットワーク | - |
病因遺伝子 | SAR1B [HSA:51128] [KO:K07953] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | ICD-11: 5C81.1 ICD-10: E78.6 MeSH: C535460 OMIM: 246700 |
文献 | PMID:22104167 著者 Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, Samson-Bouma ME, Aggerbeck LP タイトル Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. 雑誌 Orphanet J Rare Dis 6:78 (2011) DOI:10.1186/1750-1172-6-78 |