ILFS1
MCID: INF145
MIFTS: 57

Infantile Liver Failure Syndrome 1 (ILFS1)

Categories: Blood diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Infantile Liver Failure Syndrome 1

MalaCards integrated aliases for Infantile Liver Failure Syndrome 1:

Name: Infantile Liver Failure Syndrome 1 57 53 75 29 6 73
Acute Infantile Liver Failure-Multisystemic Involvement Syndrome 53 59
Liver Failure 44 73
Ilfs1 57 75
Liver Failure Syndrome, Infantile, Type 1 40

Characteristics:

Orphanet epidemiological data:

59
acute infantile liver failure-multisystemic involvement syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
patients develop acute symptoms under physiologic stress due to illness
patients may show intermittent signs of improvement
clinical features other than liver findings may vary
one family of irish traveller descent described (last curated september 2013)


HPO:

32
infantile liver failure syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare hepatic diseases


Summaries for Infantile Liver Failure Syndrome 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 370088Disease definitionAcute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease 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. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.Visit the Orphanet disease page for more resources.

MalaCards based summary : Infantile Liver Failure Syndrome 1, also known as acute infantile liver failure-multisystemic involvement syndrome, is related to acute liver failure and hepatitis, and has symptoms including seizures An important gene associated with Infantile Liver Failure Syndrome 1 is LARS (Leucyl-TRNA Synthetase), and among its related pathways/superpathways is FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include liver, brain and testes, and related phenotypes are frontal bossing and seizures

UniProtKB/Swiss-Prot : 75 Infantile liver failure syndrome 1: A life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis.

Description from OMIM: 615438

Related Diseases for Infantile Liver Failure Syndrome 1

Diseases in the Liver Disease family:

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

Diseases related to Infantile Liver Failure Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 363)
# Related Disease Score Top Affiliating Genes
1 acute liver failure 33.4 ALB F2 GPT SLC17A5
2 hepatitis 31.9 F2 GPT SLC17A5
3 hepatorenal syndrome 31.9 ALB F2
4 autoimmune hepatitis 31.8 F2 GPT
5 hepatitis a 31.7 ALB F2 GPT
6 wilson disease 31.7 ALB F2 GPT
7 portal hypertension 31.6 ALB F2 GPT
8 liver disease 31.5 ALB F2 FAH GPT SLC17A5
9 hepatitis b 31.4 ALB F2 GPT SLC17A5
10 hepatic encephalopathy 31.3 ALB F2 GPT SLC17A5
11 alcoholic hepatitis 31.2 ALB F2 GPT SLC17A5
12 bile duct disease 31.1 ALB F2 GPT
13 nonalcoholic steatohepatitis 30.9 F2 GPT SLC17A5
14 hepatitis e 30.3 ALB F2 GPT
15 hepatic coma 30.1 ALB F2 GPT
16 dengue hemorrhagic fever 29.9 ALB F2
17 hepatoportal sclerosis 29.8 F2 GPT
18 liver cirrhosis 29.8 ALB F2 GPT SLC17A5
19 endocarditis 29.7 ALB F2
20 biliary atresia 29.7 ALB GPT
21 scrub typhus 29.7 GPT SLC17A5
22 hemorrhagic fever 29.7 ALB F2 GPT
23 viral hepatitis 29.6 ALB F2 GPT SLC17A5
24 peritonitis 29.5 ALB F2
25 non-a-e hepatitis 29.4 ALB F2
26 esophageal varix 29.4 ALB F2
27 alcoholic liver cirrhosis 29.3 ALB F2 SLC17A5
28 pulmonary embolism 29.3 ALB F2
29 eclampsia 29.2 ALB F2
30 hepatic tuberculosis 29.2 ALB F2 GPT
31 cholecystitis 29.2 ALB F2 GPT
32 cholangitis 29.2 ALB F2 GPT
33 bilirubin metabolic disorder 29.1 ALB F2 GPT SLC17A5
34 compartment syndrome 29.0 ALB F2 SLC17A5
35 choledocholithiasis 28.8 ALB F2 GPT SLC17A5
36 obstructive jaundice 28.8 ALB F2 GPT SLC17A5
37 spinocerebellar ataxia, autosomal recessive 21 11.7
38 interstitial lung and liver disease 11.4
39 fatty liver disease 11.3
40 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.2
41 lysosomal acid lipase deficiency 11.2
42 alpha-1-antitrypsin deficiency 11.2
43 hepatitis c 11.1
44 biliary cirrhosis, primary, 1 11.1
45 hepatitis c virus 11.1
46 paracetamol poisoning 11.1
47 mitochondrial complex iii deficiency, nuclear type 1 11.1
48 fructose intolerance, hereditary 11.1
49 dihydrolipoamide dehydrogenase deficiency 11.1
50 chronic active epstein-barr virus infection 11.1

Graphical network of the top 20 diseases related to Infantile Liver Failure Syndrome 1:



Diseases related to Infantile Liver Failure Syndrome 1

Symptoms & Phenotypes for Infantile Liver Failure Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
developmental delay
hypotonia
abnormal mri findings
gross motor delay (in some patients)
more
Metabolic Features:
lactic acidosis

Abdomen Liver:
abnormal liver function tests
liver failure
steatosis
enlarged liver
fibrosis
more
Head And Neck Head:
microcephaly (in one patient)

Head And Neck Ears:
hearing loss, sensorineural (in one patient)

Skeletal Feet:
long toes (in one patient)

Growth Other:
failure to thrive

Hematology:
macrocytic anemia
coagulopathy

Genitourinary Kidneys:
renal dysfunction

Head And Neck Face:
frontal bossing (in one patient)
chubby cheeks (in one patient)

Skeletal Hands:
long fingers (in one patient)
abnormal thumbs (in one patient)

Muscle Soft Tissue:
decreased muscle bulk (in one patient)
congenital myopathy (in one patient)


Clinical features from OMIM:

615438

Human phenotypes related to Infantile Liver Failure Syndrome 1:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 32 occasional (7.5%) HP:0002007
2 seizures 32 HP:0001250
3 failure to thrive 32 HP:0001508
4 global developmental delay 32 HP:0001263
5 hepatomegaly 32 HP:0002240
6 microcephaly 32 HP:0000252
7 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
8 full cheeks 32 occasional (7.5%) HP:0000293
9 anemia 32 HP:0001903
10 hepatic steatosis 32 HP:0001397
11 lactic acidosis 32 HP:0003128
12 acute hepatic failure 32 HP:0006554
13 generalized hypotonia 32 HP:0001290
14 long fingers 32 occasional (7.5%) HP:0100807
15 delayed gross motor development 32 occasional (7.5%) HP:0002194
16 macrocytic anemia 32 HP:0001972
17 abnormality of the coagulation cascade 32 HP:0003256
18 long toe 32 occasional (7.5%) HP:0010511
19 elevated hepatic transaminase 32 HP:0002910

UMLS symptoms related to Infantile Liver Failure Syndrome 1:


seizures

MGI Mouse Phenotypes related to Infantile Liver Failure Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 ALB F2 FAH FECH LARS SLC17A5

Drugs & Therapeutics for Infantile Liver Failure Syndrome 1

Search Clinical Trials , NIH Clinical Center for Infantile Liver Failure Syndrome 1

Cochrane evidence based reviews: liver failure

Genetic Tests for Infantile Liver Failure Syndrome 1

Genetic tests related to Infantile Liver Failure Syndrome 1:

# Genetic test Affiliating Genes
1 Infantile Liver Failure Syndrome 1 29 LARS

Anatomical Context for Infantile Liver Failure Syndrome 1

MalaCards organs/tissues related to Infantile Liver Failure Syndrome 1:

41
Liver, Brain, Testes, Bone, Kidney, T Cells, Bone Marrow

Publications for Infantile Liver Failure Syndrome 1

Articles related to Infantile Liver Failure Syndrome 1:

(show top 50) (show all 1926)
# Title Authors Year
1
Albumin-Indocyanine Green Evaluation Grading System Predicts Post-Hepatectomy Liver Failure for Biliary Tract Cancer. ( 29339651 )
2019
2
Neutralization of CD95 ligand protects the liver against ischemia-reperfusion injury and prevents acute liver failure. ( 29374146 )
2018
3
Absolute quantitation of acetaminophen-modified human serum albumin in acute liver failure patients by LC-MS/MS. ( 29920820 )
2018
4
Challenges in the early diagnosis of patients with acute liver failure induced by amatoxin poisoning: Two case reports. ( 29979397 )
2018
5
Human liver organoids generated with single donor-derived multiple cells rescue mice from acute liver failure. ( 29321049 )
2018
6
Mesenchymal Stem Cell/Red Blood Cell-Inspired Nanoparticle Therapy in Mice with Carbon Tetrachloride-Induced Acute Liver Failure. ( 29943967 )
2018
7
Hepatitis A, cardiomyopathy, aplastic anemia, and acute liver failure: A devastating scenario. ( 29359844 )
2018
8
Acute Liver Failure due to Amanita phalloides Poisoning: Therapeutic Approach and Outcome. ( 29407307 )
2018
9
Acute Liver Failure of Indeterminate Etiology: A Comprehensive Systematic Approach by An Expert Committee to Establish Causality. ( 29946176 )
2018
10
Beyond KCH selection and options in acute liver failure. ( 29858744 )
2018
11
Liver transplantation for acute liver failure - a 30-year single center experience. ( 29848142 )
2018
12
Drug idiosyncrasy due to pirfenidone presenting as acute liver failure: Case report and mini-review of the literature. ( 29404521 )
2018
13
Post-operative delayed elevation of ALT correlates with early death in patients with HBV-related hepatocellular carcinoma and Post-hepatectomy Liver Failure. ( 29373299 )
2018
14
Case Report of Isoniazid-Related Acute Liver Failure Requiring Liver Transplantation. ( 29783726 )
2018
15
More than meets the eye: Severe alcoholic hepatitis can present as acute-on-chronic liver failure. ( 29935965 )
2018
16
Acute Liver Failure in an Adolescent Male Induced by Human Herpesvirus 6 (HHV-6): A Case Report With Literature Review. ( 29390152 )
2018
17
A Case of Live Donor Liver Transplantation in Acute-on-Chronic Liver Failure with Budd-Chiari Syndrome: Donor and Recipient with Antiphospholipid Antibody Syndrome. ( 29959308 )
2018
18
Protective effect of Coptisine from Rhizoma Coptidis on LPS/D-GalN-induced acute liver failure in mice through up-regulating expression of miR-122. ( 29253766 )
2018
19
Acute liver failure due to liver parenchymal infiltration with acute myelogenous leukaemia in a patient with myelodysplastic syndrome. ( 29954762 )
2018
20
A good response to glucocorticoid for sub-acute liver failure: a case report. ( 29971256 )
2018
21
Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients. ( 29655841 )
2018
22
Liver maximum capacity (LiMAx) test as a helpful prognostic tool in acute liver failure with sepsis: a case report. ( 29925334 )
2018
23
Early Combination Therapy with Corticosteroid and Nucleoside Analogue Induces Rapid Resolution of Inflammation in Acute Liver Failure Due to Transient Hepatitis B Virus Infection. ( 29321429 )
2018
24
Noninvasive Intracranial Pressure Assessment in Acute Liver Failure. ( 29948998 )
2018
25
Profile, risk factors and outcome of acute kidney injury in paediatric acute-on-chronic liver failure. ( 29325220 )
2018
26
Hepatic Macrophages are the Cell Source of Hepatic Procalcitonin in Acute Liver Failure. ( 29913443 )
2018
27
Intentional Modulation of Portal Venous Pressure by Splenectomy Saves the Patient with Liver Failure and Portal Hypertension After Major Hepatectomy: Is Delayed Splenectomy an Acceptable Therapeutic Option for Secondary Portal Hypertension? ( 29410393 )
2018
28
A case of acute liver failure due to carfilzomib in multiple myeloma. ( 29969517 )
2018
29
Identification of key candidate genes and pathways in hepatitis B virus-associated acute liver failure by bioinformatical analysis. ( 29384847 )
2018
30
Acute Liver Failure Associated With Pomalidomide Therapy for Multiple Myeloma. ( 29907543 )
2018
31
Inappropriate use of the term of acute liver failure in a tertiary hospital. ( 29866512 )
2018
32
Macrophage-targeting and reactive oxygen species (ROS)-responsive nanopolyplexes mediate anti-inflammatory siRNA delivery against acute liver failure (ALF). ( 29855002 )
2018
33
Living Donor Liver Transplantation in Acute Liver Failure Patients with Grade IV Encephalopathy: Is Deep Hepatic Coma Still an Absolute Contraindication? A Successful Single-Center Experience. ( 29531210 )
2018
34
Association Between Grade of Acute on Chronic Liver Failure and Response to Terlipressin and Albumin in Patients With Hepatorenal Syndrome. ( 29391267 )
2018
35
SCYL1 variants cause a syndrome with low I^-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). ( 29419818 )
2018
36
Acute Liver Failure: Outcome and Value of Pediatric End-Stage Liver Disease Score in Pediatric Cases. ( 29851917 )
2018
37
Long-term outcome in patients with acute liver failure. ( 29927051 )
2018
38
Acute Liver Failure among Patients on Efavirenz-Based Antiretroviral Therapy. ( 29862098 )
2018
39
Dendritic cells with increased expression of suppressor of cytokine signaling 1(SOCS1) gene ameliorate lipopolysaccharide/d-galactosamine-induced acute liver failure. ( 29852455 )
2018
40
Comparison of Dynamic Changes Among Various Prognostic Scores in Viral Hepatitis-Related Acute Liver Failure. ( 29735790 )
2018
41
MerTK expressing hepatic macrophages promote the resolution of inflammation in acute liver failure. ( 28450389 )
2018
42
A study of association between regulatory polymorphism in the IL-10 gene promoter region and acute viral hepatitis, and acute liver failure. ( 30109600 )
2018
43
HepaRG-Progenitor Cell Derived Hepatocytes Cultured in Bioartificial Livers Are Protected from Healthy- and Acute Liver Failure-Plasma Induced Toxicity. ( 30110678 )
2018
44
Hepatoprotective effect of α-mangostin against lipopolysaccharide/d-galactosamine-induced acute liver failure in mice. ( 30119260 )
2018
45
The Effects of Conditioned Medium Derived from Mesenchymal Stem Cells Cocultured with Hepatocytes on Damaged Hepatocytes and Acute Liver Failure in Rats. ( 30123296 )
2018
46
Effect of tumor necrosis factor-α on the expression of the ammonia transporter Rhcg in the brain in mice with acute liver failure. ( 30134917 )
2018
47
Progress in mesenchymal stem cell-based therapy for acute liver failure. ( 30143052 )
2018
48
Cerebrovascular reactivity and cerebral perfusion of rats with acute liver failure: role of L-glutamine and asymmetric dimethylarginine in L-arginine-induced response. ( 30151828 )
2018
49
Herpes Simplex Virus-Associated Acute Liver Failure Often Goes Unrecognized. ( 30151988 )
2018
50
Uncommon Cause of Acute Liver Failure with Encephalopathy. ( 30186017 )
2018

Variations for Infantile Liver Failure Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Infantile Liver Failure Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 LARS p.Tyr373Cys VAR_070438 rs201861847

ClinVar genetic disease variations for Infantile Liver Failure Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LARS NM_020117.10(LARS): c.1118A> G (p.Tyr373Cys) single nucleotide variant Pathogenic rs201861847 GRCh37 Chromosome 5, 145533491: 145533491
2 LARS NM_020117.10(LARS): c.1118A> G (p.Tyr373Cys) single nucleotide variant Pathogenic rs201861847 GRCh38 Chromosome 5, 146153928: 146153928
3 LARS NM_020117.10(LARS): c.1292T> A (p.Val431Asp) single nucleotide variant Uncertain significance rs150429680 GRCh38 Chromosome 5, 146151995: 146151995
4 LARS NM_020117.10(LARS): c.1292T> A (p.Val431Asp) single nucleotide variant Uncertain significance rs150429680 GRCh37 Chromosome 5, 145531558: 145531558
5 LARS NM_020117.10(LARS): c.242G> T (p.Gly81Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 145551525: 145551525
6 LARS NM_020117.10(LARS): c.242G> T (p.Gly81Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 146171962: 146171962

Expression for Infantile Liver Failure Syndrome 1

Search GEO for disease gene expression data for Infantile Liver Failure Syndrome 1.

Pathways for Infantile Liver Failure Syndrome 1

Pathways related to Infantile Liver Failure Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.27 ALB F2

GO Terms for Infantile Liver Failure Syndrome 1

Molecular functions related to Infantile Liver Failure Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pyridoxal phosphate binding GO:0030170 8.62 ALB GPT

Sources for Infantile Liver Failure Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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