| H01367 | |
| H番号 | H01367 |
| 名称 | 小児肝不全 |
| 概要 | Infantile liver failure is a life-threatening condition characterized by poor feeding, vomiting, jaundice, distended abdomen, hemorrhagic diathesis, and hypoactivity. Clinically, patients manifest with elevated liver transaminases, hypoglycemia, cholestasis, coagulopathy and hyperbilirubinemia. It has been reported that infantile liver failure syndrome is caused by mutations in aminoacyl-tRNA synthetase genes. A transient form of infantile liver failure is caused by mutation in the TRMU gene, which encodes a mitochondria specific tRNA-modifying enzyme. |
| カテゴリ | 先天性代謝異常症, ミトコンドリア病 |
| ネットワーク | - |
| 病因遺伝子 | (ILFS1) LARS [HSA:51520] [KO:K01869] (ILFS2) NBAS [HSA:51594] [KO:K20473] (ILFS3) RINT1 [HSA:60561] [KO:K20474] (LFIT) TRMU [HSA:55687] [KO:K21027] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C53.23 ICD-10: K72.0 MeSH: D017093 OMIM: 615438 616483 618641 613070 |
| 文献 | PMID:19732863 著者 Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rotig A, Tarassov I, Elpeleg O タイトル Acute infantile liver failure due to mutations in the TRMU gene. 雑誌 Am J Hum Genet 85:401-7 (2009) DOI:10.1016/j.ajhg.2009.08.004 PMID:22607940 著者 Casey JP, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J, Bourke B, O'Sullivan J, Crushell E, Lynch S, Ennis S タイトル Identification of a mutation in LARS as a novel cause of infantile hepatopathy. 雑誌 Mol Genet Metab 106:351-8 (2012) DOI:10.1016/j.ymgme.2012.04.017 PMID:26073778 著者 Haack TB, Staufner C, Kopke MG, Straub BK, Kolker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kuhr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H タイトル Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 雑誌 Am J Hum Genet 97:163-9 (2015) DOI:10.1016/j.ajhg.2015.05.009 PMID:31204009 著者 Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW タイトル RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. 雑誌 Am J Hum Genet 105:108-121 (2019) DOI:10.1016/j.ajhg.2019.05.011 |