ILFS1
MCID: INF145
MIFTS: 44

Infantile Liver Failure Syndrome 1 (ILFS1)

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 1

MalaCards integrated aliases for Infantile Liver Failure Syndrome 1:

Name: Infantile Liver Failure Syndrome 1 57 12 20 72 29 6 15 70
Acute Infantile Liver Failure-Multisystemic Involvement Syndrome 20 58
Liver Failure 44 70
Ilfs1 57 72
Liver Failure Syndrome, Infantile, Type 1 39

Characteristics:

Orphanet epidemiological data:

58
acute infantile liver failure-multisystemic involvement syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
infantile liver failure syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases


Summaries for Infantile Liver Failure Syndrome 1

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 370088 Definition 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.

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 spinocerebellar ataxia, autosomal recessive 21, and has symptoms including seizures An important gene associated with Infantile Liver Failure Syndrome 1 is LARS1 (Leucyl-TRNA Synthetase 1). The drugs Entecavir and Sargramostim have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and bone, and related phenotypes are frontal bossing and sensorineural hearing impairment

Disease Ontology : 12 An infantile liver failure syndrome that has material basis in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32.

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 615438 PS615438

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 Infantile Liver Failure Syndrome 3
Infantile Liver Failure Syndrome 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 776)
# Related Disease Score Top Affiliating Genes
1 acute liver failure 11.8
2 spinocerebellar ataxia, autosomal recessive 21 11.5
3 interstitial lung and liver disease 11.4
4 hepatitis 11.3
5 fever-associated acute infantile liver failure syndrome 11.3
6 hepatitis b 11.3
7 hepatic encephalopathy 11.3
8 progressive familial intrahepatic cholestasis 11.2
9 mitochondrial dna depletion syndrome 4a 11.2
10 hepatitis a 11.2
11 mitochondrial dna depletion syndrome 3 11.2
12 mitochondrial dna depletion syndrome 6 11.1
13 hepatitis, fulminant viral 11.1
14 carnitine palmitoyltransferase ii deficiency, infantile 11.1
15 hepatitis c 11.1
16 fatty liver disease 11.1
17 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.1
18 autoimmune hepatitis 11.1
19 mitochondrial complex iii deficiency, nuclear type 1 11.1
20 hepatic coma 11.1
21 hepatorenal syndrome 11.0
22 primary biliary cholangitis 11.0
23 tyrosinemia 11.0
24 portal hypertension 11.0
25 encephalopathy 11.0
26 wilson disease 11.0
27 dihydrolipoamide dehydrogenase deficiency 11.0
28 tyrosinemia, type i 11.0
29 alpha-1-antitrypsin deficiency 11.0
30 lysosomal acid lipase deficiency 11.0
31 alcoholic hepatitis 11.0
32 hemochromatosis, type 1 11.0
33 glycogen storage disease iii 11.0
34 glycogen storage disease iv 11.0
35 congenital disorder of glycosylation, type iir 11.0
36 cholestasis, benign recurrent intrahepatic, 2 11.0
37 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.0
38 hyperbiliverdinemia 11.0
39 congenital short bowel syndrome 11.0
40 congenital disorder of glycosylation, type iio 11.0
41 paracetamol poisoning 10.9
42 hepatitis c virus 10.9
43 liver failure, infantile, transient 10.9
44 infantile liver failure syndrome 2 10.9
45 infantile liver failure syndrome 3 10.9
46 liver cirrhosis 10.9
47 biliary atresia 10.9
48 leptospirosis 10.9
49 cholangitis, primary sclerosing 10.9
50 fructose intolerance, hereditary 10.9

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

Human phenotypes related to Infantile Liver Failure Syndrome 1:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 occasional (7.5%) HP:0002007
2 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
3 full cheeks 31 occasional (7.5%) HP:0000293
4 delayed gross motor development 31 occasional (7.5%) HP:0002194
5 long fingers 31 occasional (7.5%) HP:0100807
6 long toe 31 occasional (7.5%) HP:0010511
7 failure to thrive 31 HP:0001508
8 global developmental delay 31 HP:0001263
9 hepatomegaly 31 HP:0002240
10 microcephaly 31 HP:0000252
11 anemia 31 HP:0001903
12 hepatic steatosis 31 HP:0001397
13 elevated hepatic transaminase 31 HP:0002910
14 lactic acidosis 31 HP:0003128
15 generalized hypotonia 31 HP:0001290
16 acute hepatic failure 31 HP:0006554
17 macrocytic anemia 31 HP:0001972
18 abnormality of the coagulation cascade 31 HP:0003256
19 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hypotonia
developmental delay
abnormal mri findings
gross motor delay (in some patients)
more
Metabolic Features:
lactic acidosis

Abdomen Liver:
fibrosis
abnormal liver function tests
liver failure
steatosis
enlarged liver
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 (Updated 05-Apr-2021)

UMLS symptoms related to Infantile Liver Failure Syndrome 1:


seizures

Drugs & Therapeutics for Infantile Liver Failure Syndrome 1

Drugs for Infantile Liver Failure Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 298)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
2
Sargramostim Approved, Investigational Phase 4 123774-72-1, 83869-56-1
3
Lenograstim Approved, Investigational Phase 4 135968-09-1
4
Haloperidol Approved Phase 4 52-86-8 3559
5
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
6
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
7
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
8
Caspofungin Approved Phase 4 179463-17-3, 162808-62-0 468682 2826718
9
Promethazine Approved, Investigational Phase 4 60-87-7 4927
10
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
11
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
12
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 644073 40400
13
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
14
Nevirapine Approved Phase 4 129618-40-2 4463
15
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
16
Norepinephrine Approved Phase 4 51-41-2 439260
17
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
18
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
19
Empagliflozin Approved Phase 4 864070-44-0
20
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
21
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
22
Molgramostim Investigational Phase 4 99283-10-0
23
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
24 Neurotransmitter Agents Phase 4
25 Haloperidol decanoate Phase 4
26 Dopamine Agents Phase 4
27 Psychotropic Drugs Phase 4
28 Dopamine Antagonists Phase 4
29 Antipsychotic Agents Phase 4
30 Reverse Transcriptase Inhibitors Phase 4
31 Anti-Retroviral Agents Phase 4
32 Anti-HIV Agents Phase 4
33 Immunologic Factors Phase 4
34 Analgesics Phase 4
35 Antifungal Agents Phase 4
36 Fat Emulsions, Intravenous Phase 4
37 Parenteral Nutrition Solutions Phase 4
38 Dermatologic Agents Phase 4
39 Narcotics Phase 4
40 Narcotic Antagonists Phase 4
41 Immunosuppressive Agents Phase 4
42 Calcineurin Inhibitors Phase 4
43 Olive Phase 4
44 Anesthetics Phase 4
45 Hypnotics and Sedatives Phase 4
46 retinol Phase 4
47 Retinol palmitate Phase 4
48 Analgesics, Opioid Phase 4
49 Histamine Antagonists Phase 4
50
Histamine Phosphate Phase 4 51-74-1 65513

Interventional clinical trials:

(show top 50) (show all 351)
# Name Status NCT ID Phase Drugs
1 Assessment of Coagulation Abnormalities in Acute on Chronic Liver Failure Patients Using Thromboelastography Unknown status NCT02757170 Phase 4
2 Granulocyte Colony-stimulating Factor(G-CSF) in the Treatment of Hepatic Failure: a Prospective Randomized Controlled Clinical Study Unknown status NCT02331745 Phase 4 Granulocyte colony-stimulating factor;standard treatment
3 Prophylactic Haloperidol Use for Delirium in ICU Patients; a Randomized Placebo-controlled Double-blind Multicentre Trial Completed NCT01785290 Phase 4 Haloperidol 1 mg/q8h;Haloperidol 2 mg/q8h;Placebo
4 Influence of Methylprednisolone Pulse Therapy on Liver Function in Patients With Graves' Orbitopathy Completed NCT03667157 Phase 4 every week IVMP therapy;very high doses IVMP therapy
5 Safety and Efficacy of Steroids in the Management of Fulminant Hepatic Failure Due to Hepatitis A Virus in the Pediatric Age Group Completed NCT02375867 Phase 4 prednisolone;methylprednisolone
6 Tenofovir Reduces Morbidity and Mortality in Patients With Spontaneous Reactivation of Hepatitis B Presenting as Acute-on-chronic Liver Failure (ACLF): A Randomized Placebo Controlled Trial Completed NCT01074645 Phase 4 Tenofovir disoproxil fumarate (TDF)
7 Four Parenteral Lipid Emulsions and the Liver Function Completed NCT03044639 Phase 4 Lipid Emulsions, Intravenous
8 Comparative FK506 Drug Levels of Once Daily Advagraf in First Nations and Caucasian Patients With Liver Transplants Completed NCT04237246 Phase 4 Tacrolimus
9 Intravenous Lipid Emulsions and Liver Function in Adult Chronic Intestinal Failure Patients: New Results After 5 Years. Completed NCT04347902 Phase 4 Intravenous Lipid Emulsion
10 Sepsis, Endothelial Function, and Lipids in Critically Ill Patients With Liver Failure (SELLIFA). Randomized Controlled Trial Comparing the Tolerance on Lipids and Safety of Isocaloric Parenteral Nutrition With Enteral Nutrition. Completed NCT00522730 Phase 4
11 Pharmacokinetics of Caspofungin After One Dose in Patients With Liver Failure Completed NCT01968395 Phase 4 Caspofungin 70 mg
12 Pharmacokinetics of Buprenorphine and Naloxone in Subjects With Mild to Severe Hepatic Impairment (Child-Pugh Classes, A, B, and C), in HCV-Seropositive Subjects, and in Healthy Volunteers Completed NCT01846455 Phase 4 2.0mg Buprenorphine/0.5mg Naloxone;Promethazine
13 A Pharmacokinetic Study to Assess Nevirapine Levels in HIV-infected Patients With Impaired Hepatic Function Completed NCT00144248 Phase 4 nevirapine
14 Therapeutic Efficacy of Oral PEG3350 Plus Lactulose Versus Lactulose Alone in Patients of Acute on Chronic Liver Failure With Overt Hepatic Encephalopathy: A Single Blind Prospective Randomized Controlled Study Recruiting NCT03987893 Phase 4 PEG-3350 with Electolytes;Lactulose
15 Use of HA 330-II for Hemofiltration in Patients With Acute Liver Failure as a Bridge to Liver Transplantation: Clinical Evaluation Protocol. Recruiting NCT04243655 Phase 4 Standard medical treatment (SMT)
16 Effects of the SGLT2 Inhibitor Empagliflozin in Patients With Euvolemic and Hypervolemic Hyponatremia - a Monocentric Randomized Double-blind Placebo-controlled Trial (the EMPOWER Study) Not yet recruiting NCT04447911 Phase 4 Empagliflozin 25 MG;Placebo
17 A Multi-Center Trial to Study Acute Liver Failure: N-Acetylcysteine (NAC) Open Label Use Study Terminated NCT00896025 Phase 4 N-acetylcysteine
18 The Effect of Clonidine-enhanced Sedation on Delirium in Ventilated Critically Ill Patients CATAPRES (Confusion and Alpha-Two Agonist Prescription Randomised Efficacy Study) Unknown status NCT01876355 Phase 3 Clonidine;SodiumChloride
19 Citrate Anticoagulation During MARS Treatment Unknown status NCT00695617 Phase 2, Phase 3 trisodiumcitrate;trisodiumcitrate
20 The Effect of Somatostatin for Treatment of Post Hepatectomy Liver Failure (PHLF) Unknown status NCT02882347 Phase 3 Somatostatin
21 Prospective Randomized Single-blind Study on Transfer-factor in Acute Decompensation of Advanced Chronic Liver Disease and Acute-on-chronic Liver Failure. Unknown status NCT02837939 Phase 2, Phase 3 Human derived Transfer factor;Aqua pro injectione 4ml ampules for subcutaneous injection
22 A Randomized, Active-Control, Open Label, Phase IIIb Study to Evaluate the Safety and Efficacy of TONKA Compared With Silymarin (Legalon) for Lowering Hepatic Enzymes in Liver Function Disorder Patients With Moderate to High Elevated Liver Unknown status NCT03216668 Phase 3 TONKA;LEGALON
23 Clinical Trial of Pentoxifylline Administration Versus Placebo on Survival in Patients With Cirrhosis and Severe Liver Failure Completed NCT00162552 Phase 3 pentoxifylline;PLACEBO
24 A Multi-center Study of the Safety and Efficacy of N-acetylcysteine in the Treatment of Acute Liver Failure in Pediatric Patients Not Caused by Acetaminophen. Completed NCT00248625 Phase 3 N-acetylcysteine;Placebo
25 13C-Methacetin Breath Test for the Prediction of Outcome in in Acute Liver Injury or Acute Liver Failure Completed NCT02786836 Phase 2, Phase 3 13C-Methacetin
26 Randomized Study of Acetylcysteine in Patients With Acute Liver Failure Not Caused by Acetaminophen Completed NCT00004467 Phase 3 N-acetylcysteine (NAC);Placebo
27 Randomized Placebo-controlled Trial to Assess the Efficacy of Granulocyte Colony-stimulating Factor (G-CSF) and Erythropoetin (EPO) in the Survival of Patients With Acute-on-chronic Liver Failure (ACLF) Completed NCT01383460 Phase 3 Granulocyte Colony-stimulating Factor (G-CSF) and Erythropoetin (EPO);Placebo
28 Prospective, Randomized, Controlled, Multi-centric, Phase III Study for the Early Identification of Low-risk Patients After Partial Liver Resection by the LiMAx-test Completed NCT01785082 Phase 3 13-C-Methacetin
29 A Multicenter Randomized Controlled Trial to Compare the Efficacy of End-ischemic Dual Hypothermic Oxygenated Perfusion With Standard Static Cold Storage of Liver Grafts Donated After Circulatory Death in Preventing Biliary Complications Completed NCT02584283 Phase 3 Glutathione
30 Efficacy and Safety of the Albumin Dialysis MARS® Therapy in Patients With Fulminant and Subfulminant Hepatic Failure Completed NCT00224705 Phase 3
31 Donor Simvastatin Treatment in Organ Transplantation Completed NCT01160978 Phase 2, Phase 3 Simvastatin 80mg;Control Rx
32 A Phase II/III Clinical Trial to Study the Efficacy and Safety of the Combination Regimen of MK-5172 and MK-8742 in Subjects With Chronic Hepatitis C Virus Infection With Advanced Cirrhosis and Child-Pugh (CP)-B Hepatic Insufficiency Completed NCT02115321 Phase 2, Phase 3 Grazoprevir;Elbasvir;MK-5172A
33 Study on the Effect of Terlipressin on Recovery of Liver Function After Hepatectomy: a Multicenter Randomized Controlled Study Recruiting NCT04221672 Phase 3 Terlipressin plus standard care
34 Effects of Plasma Exchange With Human Serum Albumin 5% (PE-A 5%) on Short-term Survival in Subjects With "Acute-On-Chronic Liver Failure" (ACLF) at High Risk of Hospital Mortality Recruiting NCT03702920 Phase 3
35 A Prospective, Randomized, Single Blind, Multicentre Phase III Study on Organ Preservation With Custodiol-N Solution Compared With Custodiol Solution in Or-gan Transplantation (Kidney, Liver and Pancreas) Recruiting NCT03627013 Phase 3 Custodiol-N Solution;Custodiol HTK Solution
36 Therapeutic Plasma Exchange in Patients With Acute on Chronic Liver Failure: A Randomized Controlled Trial (PLEXAR) Not yet recruiting NCT04051437 Phase 3 Standard medical treatment
37 Colchicine for the Treatment of Cardiac Injury in Hospitalized Patients With COVID-19 (COLHEART-19) Suspended NCT04510038 Phase 2, Phase 3 Colchicine
38 A Randomized, Open-Label, Multicenter, Controlled Study to Assess Safety and Efficacy of ELAD® in Subjects With Severe Acute Alcoholic Hepatitis (sAAH) and Lille Score Failure Terminated NCT01829347 Phase 3
39 Randomized, Double-Blind, Placebo-Controlled Trial Assessing Norfloxacin in the Prevention of Complications in Patients With Cirrhosis and Severe Liver Failure Terminated NCT01037959 Phase 3 Norfloxacin;Placebo
40 Registry Protocol for Tracking the Incidence of Transplant, the Incidence and Type of Cancer, and Survival Rate of Subjects Participating in Protocol VTI-206 (NCT00973817) Withdrawn NCT01452295 Phase 2, Phase 3 ELAD (Extracorporeal Liver Assist System)
41 A Pivotal, Within Subject, Comparison of the LFT™ Dye Monitor System to the Indocyanine Green Dye (ICG) Serial Blood Plasma Disappearance Rate in Patients With Impaired and Non-Impaired Hepatic Function Withdrawn NCT02552901 Phase 3 0.1 mg/kg ICG Dose;0.5 mg/kg ICG dose
42 Safety and Efficacy of Human Umbilical Cord Mesenchymal Stem Cells Transplantation Combined With Plasma Exchange for Patients With Acute-on-Chronic Liver Failure Caused by Hepatitis B Virus (HBV) Unknown status NCT01724398 Phase 1, Phase 2
43 Molecular Adsorbent Recirculating System (MARS®) for the Treatment of Patients With Hypoxic Hepatitis - a Prospective Randomized Controlled Clinical Study Unknown status NCT01690845 Phase 2
44 Phase I/II Study of Recombinant Human Hepatocyte Growth Factor in Fulminant and Late-Onset Hepatic Failure Unknown status NCT00225901 Phase 1, Phase 2 Recombinant human hepatocyte growth factor
45 Therapeutic Efficacy of L-Ornithine L-Aspartate Infusion in Patients With Acute Liver Failure: A Double- Blind, Randomized, Placebo- Controlled Study Unknown status NCT00470314 Phase 2 L-Ornithine L-Aspartate
46 Umbilical Cord Blood Derived Mesenchymal Stem Cells Infusion for HBV-Related Acute-on-Chronic Liver Failure: A Randomized Controlled Trial Unknown status NCT02812121 Phase 2 umbilical cord blood mesenchymal stem cells
47 A Multicentre, Double-blind, Randomized, Placebo-controlled Study to Evaluate the Efficacy and the Safety of ALF-5755 in Patients With Nonacetaminophen Severe Acute Hepatitis and Early Stage Acute Liver Failure Unknown status NCT01318525 Phase 2 ALF-5755;Saline solution (0.9% NaCl)
48 Clinical Comparison of Safety and Efficacy of Allogeneic Umbilical-Cord and Bone Marrow-derived Mesenchymal Stem Cells Transplantation for HBV-related Liver Failure Unknown status NCT01844063 Phase 1, Phase 2 Conventional treatment
49 Efficacy of Allogenic Bone Marrow Stem Cells Transplantation in Patients With Liver Failure Resulting From Chronic Hepatitis B Unknown status NCT01221454 Phase 2 Conserved therapy
50 Phase Ⅰ/Ⅱ Study of Human Umbilical Cord Derived Mesenchymal Stem Cells (UC-MSCs) for Treatment of Liver Failure Unknown status NCT01218464 Phase 1, Phase 2 Conventional plus MSC treatment;Conventional plus pacebo treatment

Search 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 LARS1

Anatomical Context for Infantile Liver Failure Syndrome 1

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

40
Liver, Bone Marrow, Bone, Endothelial, Pancreas, Monocytes, Fetal Liver

Publications for Infantile Liver Failure Syndrome 1

Articles related to Infantile Liver Failure Syndrome 1:

# Title Authors PMID Year
1
Identification of a mutation in LARS as a novel cause of infantile hepatopathy. 57 6
22607940 2012
2
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization. 61
33314043 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 2021
4
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. 61
32699352 2020
5
Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency. 61
30349989 2019
6
Loss of Leucyl-tRNA synthetase b leads to ILFS1-like symptoms in zebrafish. 61
30262142 2018
7
[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1]. 61
28774368 2017
8
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS. 61
25917789 2015

Variations for Infantile Liver Failure Syndrome 1

ClinVar genetic disease variations for Infantile Liver Failure Syndrome 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LARS1 NM_020117.11(LARS1):c.1118A>G (p.Tyr373Cys) SNV Pathogenic 65476 rs201861847 GRCh37: 5:145533491-145533491
GRCh38: 5:146153928-146153928
2 LARS1 NM_020117.11(LARS1):c.1812del (p.Phe603_Tyr604insTer) Deletion Pathogenic 1033930 GRCh37: 5:145523040-145523040
GRCh38: 5:146143477-146143477
3 LARS1 NM_020117.11(LARS1):c.2504A>G (p.Tyr835Cys) SNV Pathogenic 1048520 GRCh37: 5:145509705-145509705
GRCh38: 5:146130142-146130142
4 LARS1 NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) SNV Conflicting interpretations of pathogenicity 431849 rs150429680 GRCh37: 5:145531558-145531558
GRCh38: 5:146151995-146151995
5 LARS1 NM_020117.11(LARS1):c.1439A>G (p.Asp480Gly) SNV Uncertain significance 1028641 GRCh37: 5:145529249-145529249
GRCh38: 5:146149686-146149686
6 LARS1 NM_020117.11(LARS1):c.185G>A (p.Gly62Glu) SNV Uncertain significance 1029737 GRCh37: 5:145552278-145552278
GRCh38: 5:146172715-146172715
7 LARS1 NM_020117.11(LARS1):c.970T>G (p.Phe324Val) SNV Uncertain significance 1029738 GRCh37: 5:145537061-145537061
GRCh38: 5:146157498-146157498
8 LARS1 NM_020117.11(LARS1):c.242G>T (p.Gly81Val) SNV Uncertain significance 561050 rs1561495759 GRCh37: 5:145551525-145551525
GRCh38: 5:146171962-146171962
9 LARS1 NM_020117.11(LARS1):c.245A>G (p.Lys82Arg) SNV Benign 138077 rs112954500 GRCh37: 5:145551522-145551522
GRCh38: 5:146171959-146171959

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

72
# Symbol AA change Variation ID SNP ID
1 LARS1 p.Tyr373Cys VAR_070438 rs201861847

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 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....