KEGG DISEASE: Infantile liver failure

KEGG

DISEASE: Infantile liver failure

Entry

H01367                      Disease

Name

Infantile liver failure

Subgroup

Infantile liver failure syndrome (ILFS)
Transient infantile liver failure (LFIT)

Supergrp

Mitochondrial disease [DS:H01427]

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H01367  Infantile liver failure

Pathway

Aminoacyl-tRNA biosynthesis

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]

Other DBs

ICD-11:

MeSH:

OMIM:

615438 616483 618641 613070

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

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