| H01367 | |
| H number | H01367 |
| Name | Infantile liver failure |
| Description | 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. |
| Category | Inherited metabolic disorder, Mitochondrial disease |
| Network | - |
| Gene | (ILFS1) LARS [HSA:51520] [KO:K01869] (ILFS2) NBAS [HSA:51594] [KO:K20473] (ILFS3) RINT1 [HSA:60561] [KO:K20474] (LFIT) TRMU [HSA:55687] [KO:K21027] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C53.23 ICD-10: K72.0 MeSH: D017093 OMIM: 615438 616483 618641 613070 |
| Reference | PMID:19732863 AUTHORS 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 TITLE Acute infantile liver failure due to mutations in the TRMU gene. JOURNAL Am J Hum Genet 85:401-7 (2009) DOI:10.1016/j.ajhg.2009.08.004 PMID:22607940 AUTHORS Casey JP, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J, Bourke B, O'Sullivan J, Crushell E, Lynch S, Ennis S TITLE Identification of a mutation in LARS as a novel cause of infantile hepatopathy. JOURNAL Mol Genet Metab 106:351-8 (2012) DOI:10.1016/j.ymgme.2012.04.017 PMID:26073778 AUTHORS 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 TITLE Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. JOURNAL Am J Hum Genet 97:163-9 (2015) DOI:10.1016/j.ajhg.2015.05.009 PMID:31204009 AUTHORS 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 TITLE RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. JOURNAL Am J Hum Genet 105:108-121 (2019) DOI:10.1016/j.ajhg.2019.05.011 |