MCID: INF194
MIFTS: 29

Infantile Liver Failure Syndrome

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Infantile Liver Failure Syndrome

MalaCards integrated aliases for Infantile Liver Failure Syndrome:

Name: Infantile Liver Failure Syndrome 12 29 15
Infantile Liver Failure 36

Classifications:



External Ids:

Disease Ontology 12 DOID:0080716
KEGG 36 H01367

Summaries for Infantile Liver Failure Syndrome

KEGG : 36 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.

MalaCards based summary : Infantile Liver Failure Syndrome, also known as infantile liver failure, is related to fever-associated acute infantile liver failure syndrome and acute liver failure. An important gene associated with Infantile Liver Failure Syndrome is LARS1 (Leucyl-TRNA Synthetase 1), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Sulfur relay system. Affiliated tissues include liver and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate.

Related Diseases for Infantile Liver Failure Syndrome

Diseases in the Liver Disease family:

Liver Failure, Infantile, Transient Infantile Liver Failure Syndrome 1
Infantile Liver Failure Syndrome 2 Infantile Liver Failure Syndrome 3
Infantile Liver Failure Syndrome Acute Liver Failure

Diseases related to Infantile Liver Failure Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 fever-associated acute infantile liver failure syndrome 32.2 RINT1 NBAS
2 acute liver failure 30.0 RINT1 NBAS
3 infantile liver failure syndrome 1 11.9
4 infantile liver failure syndrome 2 11.9
5 liver failure, infantile, transient 11.9
6 infantile liver failure syndrome 3 11.8
7 interstitial lung and liver disease 11.6
8 spinocerebellar ataxia, autosomal recessive 21 11.3
9 mitochondrial myopathy, infantile, transient 11.0
10 liver disease 10.4
11 microcytic anemia 10.2
12 autosomal recessive disease 10.1
13 neuroblastoma 10.1
14 lactic acidosis 10.0
15 citrullinemia, type ii, adult-onset 9.9
16 fatty liver disease 9.9
17 encephalopathy 9.9
18 hypotonia 9.9
19 charcot-marie-tooth disease, axonal, type 2n 9.9 EPRS1 AARS1
20 charcot-marie-tooth disease, dominant intermediate c 9.9 EPRS1 AARS1
21 autosomal dominant distal hereditary motor neuronopathy 9.9 EPRS1 AARS1
22 mitochondrial dna depletion syndrome 3 9.9
23 transaldolase deficiency 9.9
24 proteinuria, chronic benign 9.9
25 metabolic acidosis 9.9
26 non-alcoholic fatty liver disease 9.9
27 microcephaly 9.9
28 hypertrophic cardiomyopathy 9.9
29 hypothyroidism 9.9
30 macrocytic anemia 9.9
31 myopathy 9.9
32 mitochondrial metabolism disease 9.9
33 mitochondrial encephalomyopathy 9.9
34 hypoglycemia 9.9
35 mitochondrial disorders 9.9
36 charcot-marie-tooth disease, axonal, type 2d 9.9 EPRS1 AARS1
37 pontocerebellar hypoplasia 9.8 RARS2 EPRS1
38 deafness, autosomal recessive 89 9.8 RARS2 EPRS1
39 trichohepatoenteric syndrome 1 9.7 EPRS1 AARS1
40 neuronopathy, distal hereditary motor, type va 9.7 LARS1 EPRS1 AARS1
41 mitochondrial dna depletion syndrome 4a 9.6 RARS2 AARS1
42 robinow syndrome 9.6 RARS2 LARS1 EPRS1
43 charcot-marie-tooth disease 9.6 MARS2 EPRS1 AARS1
44 congenital nervous system abnormality 9.5 RARS2 EPRS1
45 developmental and epileptic encephalopathy 29 9.5 RARS2 MARS2 AARS1
46 pontocerebellar hypoplasia, type 6 9.4 RARS2 MARS2 AARS1
47 robinow syndrome, autosomal recessive 1 9.3 RARS2 LARS1 EPRS1 AARS1
48 combined oxidative phosphorylation deficiency 12 9.2 RARS2 MARS2 EPRS1 AARS1
49 perrault syndrome 9.2 RARS2 MARS2 EPRS1 AARS1

Graphical network of the top 20 diseases related to Infantile Liver Failure Syndrome:



Diseases related to Infantile Liver Failure Syndrome

Symptoms & Phenotypes for Infantile Liver Failure Syndrome

GenomeRNAi Phenotypes related to Infantile Liver Failure Syndrome according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.4 RARS2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.4 RARS2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.4 LARS1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.4 RARS2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.4 LARS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.4 LARS1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.4 RARS2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.4 RARS2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.4 RARS2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.4 RARS2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.4 RARS2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.4 LARS1

MGI Mouse Phenotypes related to Infantile Liver Failure Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 AARS1 EPRS1 LARS1 MARS2 NBAS RARS2
2 mortality/aging MP:0010768 9.17 AARS1 EPRS1 LARS1 MARS2 NBAS RARS2

Drugs & Therapeutics for Infantile Liver Failure Syndrome

Search Clinical Trials , NIH Clinical Center for Infantile Liver Failure Syndrome

Genetic Tests for Infantile Liver Failure Syndrome

Genetic tests related to Infantile Liver Failure Syndrome:

# Genetic test Affiliating Genes
1 Infantile Liver Failure Syndrome 29

Anatomical Context for Infantile Liver Failure Syndrome

MalaCards organs/tissues related to Infantile Liver Failure Syndrome:

40
Liver, Kidney

Publications for Infantile Liver Failure Syndrome

Articles related to Infantile Liver Failure Syndrome:

(show all 35)
# Title Authors PMID Year
1
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. 61
33485800 2021
2
Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of POLG c.3286C>T Variant. 61
33562887 2021
3
Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations. 61
33300650 2020
4
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization. 61
33314043 2020
5
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. 61
32699352 2020
6
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation. 61
32805445 2020
7
NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients. 61
32812336 2020
8
Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report. 61
32957979 2020
9
Pitfalls in the Diagnosis of Hereditary Fructose Intolerance. 61
32709737 2020
10
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. 61
31761904 2020
11
Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome. 61
31978013 2020
12
Mutation in the Neuroblastoma Amplified Sequence Gene as a Cause of Recurrent Acute Liver Failure, Acute Kidney Injury, and Status Epilepticus. 61
31889758 2019
13
Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A. 61
30772683 2019
14
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child. 61
30558828 2019
15
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. 61
30622725 2019
16
Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency. 61
30349989 2019
17
[Infantile liver failure syndrome type 2]. 61
30392217 2018
18
Loss of Leucyl-tRNA synthetase b leads to ILFS1-like symptoms in zebrafish. 61
30262142 2018
19
Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2. 61
29207168 2018
20
[TRMU MUTATIONS - REVERSIBLE INFANTILE LIVER FAILURE OR MULTISYSTEM DISORDER?] 61
29374875 2018
21
[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1]. 61
28774368 2017
22
Characterizing and Defining "Infantile Liver Failure". 61
28403035 2017
23
Neuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children. 61
28611345 2017
24
Mtu1-Mediated Thiouridine Formation of Mitochondrial tRNAs Is Required for Mitochondrial Translation and Is Involved in Reversible Infantile Liver Injury. 61
27689697 2016
25
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS. 61
25917789 2015
26
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 61
26073778 2015
27
Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations? 61
25665837 2015
28
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure. 61
24321534 2014
29
Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure. 61
21741925 2012
30
The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation. 61
21890497 2011
31
Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure. 61
21119539 2011
32
Acute infantile liver failure due to mutations in the TRMU gene. 61
19732863 2009
33
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. 61
18205204 2008
34
Cirrhosis in an infant heterozygous for classical citrullinaemia. 61
16421053 2005
35
Fatal infantile liver failure associated with mitochondrial DNA depletion. 61
1447652 1992

Variations for Infantile Liver Failure Syndrome

Expression for Infantile Liver Failure Syndrome

Search GEO for disease gene expression data for Infantile Liver Failure Syndrome.

Pathways for Infantile Liver Failure Syndrome

Pathways related to Infantile Liver Failure Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970
2 Sulfur relay system hsa04122

Pathways related to Infantile Liver Failure Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 RARS2 MARS2 LARS1 EPRS1 AARS1
2
Show member pathways
11.26 RARS2 MARS2 LARS1 EPRS1 AARS1
3 11.11 MARS2 EPRS1

GO Terms for Infantile Liver Failure Syndrome

Cellular components related to Infantile Liver Failure Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 8.96 LARS1 EPRS1
2 Dsl1/NZR complex GO:0070939 8.62 RINT1 NBAS

Biological processes related to Infantile Liver Failure Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.35 RARS2 MARS2 LARS1 EPRS1 AARS1
2 retrograde vesicle-mediated transport, Golgi to ER GO:0006890 9.32 RINT1 NBAS
3 aminoacyl-tRNA metabolism involved in translational fidelity GO:0106074 9.26 LARS1 AARS1
4 tRNA aminoacylation GO:0043039 9.16 EPRS1 AARS1
5 tRNA aminoacylation for protein translation GO:0006418 9.02 RARS2 MARS2 LARS1 EPRS1 AARS1

Molecular functions related to Infantile Liver Failure Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.72 RARS2 MARS2 LARS1 EPRS1 AARS1
2 ATP binding GO:0005524 9.65 RARS2 MARS2 LARS1 EPRS1 AARS1
3 ligase activity GO:0016874 9.35 RARS2 MARS2 LARS1 EPRS1 AARS1
4 aminoacyl-tRNA editing activity GO:0002161 9.16 LARS1 AARS1
5 aminoacyl-tRNA ligase activity GO:0004812 9.02 RARS2 MARS2 LARS1 EPRS1 AARS1

Sources for Infantile Liver Failure Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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