MCID: INF145
MIFTS: 35

Infantile Liver Failure Syndrome 1

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

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.

MalaCards based summary : Infantile Liver Failure Syndrome 1, also known as acute infantile liver failure-multisystemic involvement syndrome, is related to liver failure, infantile, transient and infantile liver failure syndrome 2, and has symptoms including seizures An important gene associated with Infantile Liver Failure Syndrome 1 is LARS (Leucyl-TRNA Synthetase). Affiliated tissues include liver, brain and testes, and related phenotypes are microcephaly and full cheeks

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:

# Related Disease Score Top Affiliating Genes
1 liver failure, infantile, transient 10.9
2 infantile liver failure syndrome 2 10.9

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

UMLS symptoms related to Infantile Liver Failure Syndrome 1:


seizures

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, T Cells, Kidney, Bone, Bone Marrow

Publications for Infantile Liver Failure Syndrome 1

Articles related to Infantile Liver Failure Syndrome 1:

(show top 50) (show all 1217)
# Title Authors Year
1
Neutralization of CD95 ligand protects the liver against ischemia-reperfusion injury and prevents acute liver failure. ( 29374146 )
2018
2
Absolute quantitation of acetaminophen-modified human serum albumin in acute liver failure patients by LC-MS/MS. ( 29920820 )
2018
3
Challenges in the early diagnosis of patients with acute liver failure induced by amatoxin poisoning: Two case reports. ( 29979397 )
2018
4
Human liver organoids generated with single donor-derived multiple cells rescue mice from acute liver failure. ( 29321049 )
2018
5
Mesenchymal Stem Cell/Red Blood Cell-Inspired Nanoparticle Therapy in Mice with Carbon Tetrachloride-Induced Acute Liver Failure. ( 29943967 )
2018
6
Hepatitis A, cardiomyopathy, aplastic anemia, and acute liver failure: A devastating scenario. ( 29359844 )
2018
7
Acute Liver Failure due to Amanita phalloides Poisoning: Therapeutic Approach and Outcome. ( 29407307 )
2018
8
Acute Liver Failure of Indeterminate Etiology: A Comprehensive Systematic Approach by An Expert Committee to Establish Causality. ( 29946176 )
2018
9
Beyond KCH selection and options in acute liver failure. ( 29858744 )
2018
10
Liver transplantation for acute liver failure - a 30-year single center experience. ( 29848142 )
2018
11
Drug idiosyncrasy due to pirfenidone presenting as acute liver failure: Case report and mini-review of the literature. ( 29404521 )
2018
12
Post-operative delayed elevation of ALT correlates with early death in patients with HBV-related hepatocellular carcinoma and Post-hepatectomy Liver Failure. ( 29373299 )
2018
13
Case Report of Isoniazid-Related Acute Liver Failure Requiring Liver Transplantation. ( 29783726 )
2018
14
More than meets the eye: Severe alcoholic hepatitis can present as acute-on-chronic liver failure. ( 29935965 )
2018
15
Acute Liver Failure in an Adolescent Male Induced by Human Herpesvirus 6 (HHV-6): A Case Report With Literature Review. ( 29390152 )
2018
16
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
17
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
18
Acute liver failure due to liver parenchymal infiltration with acute myelogenous leukaemia in a patient with myelodysplastic syndrome. ( 29954762 )
2018
19
A good response to glucocorticoid for sub-acute liver failure: a case report. ( 29971256 )
2018
20
Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients. ( 29655841 )
2018
21
Liver maximum capacity (LiMAx) test as a helpful prognostic tool in acute liver failure with sepsis: a case report. ( 29925334 )
2018
22
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
23
Noninvasive Intracranial Pressure Assessment in Acute Liver Failure. ( 29948998 )
2018
24
Profile, risk factors and outcome of acute kidney injury in paediatric acute-on-chronic liver failure. ( 29325220 )
2018
25
Hepatic Macrophages are the Cell Source of Hepatic Procalcitonin in Acute Liver Failure. ( 29913443 )
2018
26
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
27
A case of acute liver failure due to carfilzomib in multiple myeloma. ( 29969517 )
2018
28
Identification of key candidate genes and pathways in hepatitis B virus-associated acute liver failure by bioinformatical analysis. ( 29384847 )
2018
29
Acute Liver Failure Associated With Pomalidomide Therapy for Multiple Myeloma. ( 29907543 )
2018
30
Inappropriate use of the term of acute liver failure in a tertiary hospital. ( 29866512 )
2018
31
Macrophage-targeting and reactive oxygen species (ROS)-responsive nanopolyplexes mediate anti-inflammatory siRNA delivery against acute liver failure (ALF). ( 29855002 )
2018
32
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
33
Association Between Grade of Acute on Chronic Liver Failure and Response to Terlipressin and Albumin in Patients With Hepatorenal Syndrome. ( 29391267 )
2018
34
SCYL1 variants cause a syndrome with low I^-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). ( 29419818 )
2018
35
Acute Liver Failure: Outcome and Value of Pediatric End-Stage Liver Disease Score in Pediatric Cases. ( 29851917 )
2018
36
Long-term outcome in patients with acute liver failure. ( 29927051 )
2018
37
Acute Liver Failure among Patients on Efavirenz-Based Antiretroviral Therapy. ( 29862098 )
2018
38
Dendritic cells with increased expression of suppressor of cytokine signaling 1(SOCS1) gene ameliorate lipopolysaccharide/d-galactosamine-induced acute liver failure. ( 29852455 )
2018
39
Comparison of Dynamic Changes Among Various Prognostic Scores in Viral Hepatitis-Related Acute Liver Failure. ( 29735790 )
2018
40
MerTK expressing hepatic macrophages promote the resolution of inflammation in acute liver failure. ( 28450389 )
2018
41
Mir-24 regulates hepatocyte apoptosis via BIM during acute liver failure. ( 29218090 )
2017
42
Drug-induced acute liver failure in children and adults: Results of a single-centre study of 128 patients. ( 29222960 )
2017
43
Predicting the risk of postoperative liver failure and overall survival using liver and spleen stiffness measurements in patients with hepatocellular carcinoma. ( 28834899 )
2017
44
Intravenous amiodarone-induced acute liver failure in cardiac surgery intensive care unit. ( 29395301 )
2017
45
Prometheus therapy for the treatment of acute liver failure in patients after cardiac surgery. ( 29354174 )
2017
46
Decreased activity of plasma ADAMTS13 are related to enhanced cytokinemia and endotoxemia in patients with acute liver failure. ( 28894574 )
2017
47
Elevated procalcitonin is associated with bacterial infection during acute liver failure only when unrelated to acetaminophen intoxication. ( 28272093 )
2017
48
Waitlisted Candidates With Polycystic Liver Disease are More Likely to be Transplanted Than Those With Chronic Liver Failure. ( 28296808 )
2017
49
Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study. ( 28629372 )
2017
50
Protective role of hypoxia-inducible factor-1I+-dependent CD39 and CD73 in fulminant acute liver failure. ( 27899277 )
2017

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

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

GO Terms for Infantile Liver Failure Syndrome 1

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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