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 74 29 6 72
Acute Infantile Liver Failure-Multisystemic Involvement Syndrome 53 59
Liver Failure 44 72
Ilfs1 57 74
Liver Failure Syndrome, Infantile, Type 1 40


Orphanet epidemiological data:

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


autosomal recessive

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)


infantile liver failure syndrome 1:
Inheritance autosomal recessive inheritance


Orphanet: 59  
Rare hepatic diseases

External Ids:

MeSH 44 D017093
ICD10 via Orphanet 34 K72.0
Orphanet 59 ORPHA370088
MedGen 42 C3809522
UMLS 72 C0085605 C3809522

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: 370088DefinitionA 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 hepatorenal syndrome, and has symptoms including seizures An important gene associated with Infantile Liver Failure Syndrome 1 is LARS1 (Leucyl-TRNA Synthetase 1), and among its related pathways/superpathways is FOXA2 and FOXA3 transcription factor networks. The drugs Liraglutide and Lixisenatide have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and kidney, and related phenotypes are frontal bossing and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 74 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 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 742)
# Related Disease Score Top Affiliating Genes
1 acute liver failure 32.8 SLC17A5 GPT F2 ALB
2 hepatorenal syndrome 32.4 F2 ALB
3 autoimmune hepatitis 32.1 GPT F2
4 biliary atresia 32.0 GPT ALB
5 cholangitis, primary sclerosing 31.9 GPT ALB
6 hepatitis a 31.9 GPT F2 ALB
7 portal hypertension 31.8 GPT F2 ALB
8 wilson disease 31.8 GPT F2 ALB
9 bile duct disease 31.6 GPT F2 ALB
10 hepatitis 31.6 SLC17A5 GPT F2
11 hepatic coma 31.2 GPT F2 ALB
12 hepatic encephalopathy 30.9 SLC17A5 GPT F2 ALB
13 hepatitis b 30.7 SLC17A5 GPT F2 ALB
14 alcoholic hepatitis 30.6 SLC17A5 GPT F2 ALB
15 peritonitis 30.6 F2 ALB
16 hepatitis e 30.5 GPT F2 ALB
17 esophageal varix 30.5 F2 ALB
18 liver disease 30.5 SLC17A5 GPT FAH F2 ALB
19 dengue hemorrhagic fever 30.3 F2 ALB
20 hepatoportal sclerosis 30.2 GPT F2
21 cholangitis 30.1 GPT F2 ALB
22 hepatitis d 30.0 GPT F2
23 protein-energy malnutrition 29.9 GPT ALB
24 hypersplenism 29.9 F2 ALB
25 endocarditis 29.9 F2 ALB
26 eclampsia 29.9 F2 ALB
27 fatty liver disease, nonalcoholic 1 29.8 SLC17A5 GPT
28 cholecystitis 29.8 GPT F2 ALB
29 scrub typhus 29.8 SLC17A5 GPT
30 liver cirrhosis 29.8 SLC17A5 GPT F2 ALB
31 non-a-e hepatitis 29.8 F2 ALB
32 cholelithiasis 29.7 GPT ALB
33 abdominal tuberculosis 29.7 F2 ALB
34 viral hepatitis 29.7 SLC17A5 GPT F2 ALB
35 typhoid fever 29.6 F2 ALB
36 biliary tract disease 29.6 F2 ALB
37 pulmonary embolism 29.5 F2 ALB
38 schistosomiasis 29.4 F2 ALB
39 hellp syndrome 29.3 SLC17A5 GPT F2
40 bilirubin metabolic disorder 29.3 SLC17A5 GPT F2 ALB
41 alcoholic liver cirrhosis 29.2 SLC17A5 F2 ALB
42 hepatic tuberculosis 29.2 GPT F2 ALB
43 meningoencephalitis 29.0 SLC17A5 ALB
44 compartment syndrome 28.9 SLC17A5 F2 ALB
45 obstructive jaundice 28.5 SLC17A5 GPT F2 ALB
46 choledocholithiasis 28.2 SLC17A5 GPT F2 ALB
47 obsolete: disorder with acute infantile liver failure 12.3
48 spinocerebellar ataxia, autosomal recessive 21 12.1
49 interstitial lung and liver disease 11.9
50 progressive familial intrahepatic cholestasis 11.6

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:

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

Symptoms via clinical synopsis from OMIM:

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

Abdomen Liver:
abnormal liver function tests
liver failure
enlarged liver
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

macrocytic anemia

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:


UMLS symptoms related to Infantile Liver Failure Syndrome 1:


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 543)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Liraglutide Approved Phase 4 204656-20-2 44147092
Lixisenatide Approved Phase 4 320367-13-3
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
Caspofungin Approved Phase 4 179463-17-3, 162808-62-0 468682 2826718
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
Nevirapine Approved Phase 4 129618-40-2 4463
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
Mycophenolic acid Approved Phase 4 24280-93-1 446541
Promethazine Approved, Investigational Phase 4 60-87-7 4927
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
Norfloxacin Approved Phase 4 70458-96-7 4539
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
Ethanol Approved Phase 4 64-17-5 702
rituximab Approved Phase 4 174722-31-7 10201696
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
Histamine Approved, Investigational Phase 4 51-45-6 774
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
Colchicine Approved Phase 4 64-86-8 6167 2833
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
Zinc Approved, Investigational Phase 4 7440-66-6 32051
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
Haloperidol Approved Phase 4 52-86-8 3559
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
Atorvastatin Approved Phase 4 134523-00-5 60823
Epirubicin Approved Phase 4 56420-45-2 41867
36 Ethiodized oil Approved, Investigational Phase 4 8008-53-5
Terlipressin Approved, Investigational Phase 4 14636-12-5 72081
Rifaximin Approved, Investigational Phase 4 80621-81-4 46783403 6436173
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
tannic acid Approved Phase 4 1401-55-4
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
Acetaminophen Approved Phase 4 103-90-2 1983
Desflurane Approved Phase 4 57041-67-5 42113
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
Metformin Approved Phase 4 657-24-9 4091 14219
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
Ornithine Approved, Nutraceutical Phase 4 70-26-8, 3184-13-2 6262
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960

Interventional clinical trials:

(show top 50) (show all 652)
# 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 Intravenous Paracetamol Versus Intravenous Dexketoprofen in Patients Presented With Dysmenorrhea in Emergency Department Unknown status NCT02373514 Phase 4 Paracetamol;Dexketoprofen
4 Hepatic Function and Bile Acid in Preterm Infants Receiving Parenteral Lipids Emulsion Unknown status NCT01786759 Phase 4 ClinOleic;Intralipid
5 Development of an Imaging Biomarker for Hepatic Fibrosis Using Gadoxetate Disodium Unknown status NCT01783314 Phase 4
6 Phase IV Study of Effectiveness of Interferon and Ribavirin Treatment in Thalassemia Major Patients With Chronic Viral Hepatitis C Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
7 The Effect of the GLP-1 Receptor Agonists on Blood Levels of Lipoprotein (a) Unknown status NCT02501850 Phase 4 Liraglutide;metformin
8 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
9 Pharmacokinetics of Caspofungin After One Dose in Patients With Liver Failure Completed NCT01968395 Phase 4 Caspofungin 70 mg
10 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)
11 A Pharmacokinetic Study to Assess Nevirapine Levels in HIV-infected Patients With Impaired Hepatic Function Completed NCT00144248 Phase 4 nevirapine
12 A Multicenter, Randomized, Open-Label, Active-Controlled, Trial To Evaluate The Safety And Efficacy Of Rifaximin 550 Mg With And Without Lactulose In Subjects With A History Of Recurrent Overt Hepatic Encephalopathy Completed NCT01842581 Phase 4 Rifaximin;Rifaximin and Lactulose
13 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
14 Four Parenteral Lipid Emulsions and the Liver Function Completed NCT03044639 Phase 4 Lipid Emulsions, Intravenous
15 Citrate-based Regional Anticoagulation Versus Heparin for Continuous Renal Replacement Therapy in Critically Ill Patients With Acute Renal Failure: a Randomized Controlled Trial Completed NCT01269112 Phase 4
16 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
17 CellCept (Mycophenolate Mofetil, MMF) Maintenance Immunosuppression in Liver Transplant Recipients With Long-term Follow-up Post-transplantation for Non-Autoimmune Liver Disease - A Prospective, Randomized, Multicenter Trial. Completed NCT00206076 Phase 4 mycophenolate mofetil;mycophenolate mofetil
18 Prophylactic Use of Entecavir for Chemotherapy Associated With Hepatitis B Reactivation in HBsAg (-), Anti-HBc (+) Non-Hodgkin's Lymphoma Patients: a Randomized Controlled Trial Completed NCT00926757 Phase 4 Entecavir prophylaxis;Therapeutic entecavir
19 The Impact of the Type and Route of Nutritional Support on Infectious Complications After Upper Gastrointestinal Surgery - A Prospective, Randomized, Clinical Trial. Completed NCT00732849 Phase 4 Reconvan, Dipeptiven, Omegaven
20 Evaluating the Pharmacokinetic Profile of Hydromorphone in Chronic Pain Patients Taking Hydrocodone/APAP Completed NCT01517295 Phase 4 Hydrocodone
21 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
22 Effectiveness of Pegylated Interferon Plus Ribavirin in the Treatment of Active and Past Intravenous Drug Users Infected With Hepatitis C Completed NCT00203606 Phase 4 pegylated interferon alfa-2a ( Roche) and ribavirin
23 Phase IV Study of Long Term Peg-Intron for Patients Who Have Failed to Respond to Rebetron/Interferon With Advanced Fibrosis and Cirrhosis Secondary to Hepatitis C- The Copilot Trial Completed NCT00179413 Phase 4 PEG -Intron;Colchicine
24 Acetazolamide and Hydrochlorothiazide Followed by Furosemide Versus Hydrochlorothiazide and Furosemide Followed by Furosemide for the Treatment of Adults With Refractory Nephrotic Edema: A Randomized, Double-Blind Trial Completed NCT02427880 Phase 4 Acetazolamide and Hydrochlorothiazide Followed by Furosemide;Furosemide and Hydrochlorothiazide Followed by Furosemide
25 Low Dose Peginterferon and Ribavirin Therapy for Patients With Chronic Hepatitis C Infected With Genotype 2 or 3 Completed NCT00056862 Phase 4 Peginterferon alfa-2a;Peginterferon alfa-2a;Ribavirin
26 Comparison of Daily Norfloxacin Versus Weekly Ciprofloxacin for the Prevention of Spontaneous Bacterial Peritonitis in Cirrhotic Patients Completed NCT01542801 Phase 4 Norfloxacin;ciprofloxacin
27 Title: The Impact of Immunostimulating Nutrition on Infectious Complications After Upper Gastrointestinal Surgery - A Prospective, Randomized, Clinical Trial. Completed NCT00558155 Phase 4 peptisorb;Stresson;Parenteral nutrition;Omegaven, Dipeptiven
28 Pilot Trial of Use of DMPA Injection and High Dose MPA Tablets in Outpatient Completed NCT01148420 Phase 4 Medroxyprogesterone 17-Acetate;medroxyprogesterone acetate
29 The Effect of A-lipoic Acid (ALA) on Fatty Acid-induced Impairment of Glucose-stimulated Insulin Secretion Completed NCT01056497 Phase 4 alpha lipoic acid
30 Pegylated Interferon Alfa-2a Plus Ribavirin for Patients With Chronic Hepatitis c Virus on Opioid Pharmacotherapy: Virological and Psychological Outcomes Completed NCT01120795 Phase 4 Pegylated interferon and ribavirin;Pegylated interferon and ribavirin
31 Absorption of Orally Ingested Phosphate in Head and Neck Cancer Patients With and Without Refeeding Syndrome Completed NCT02880072 Phase 4
32 Effect of Early Nutritional Therapy on Frailty, Functional Outcomes and Recovery of Undernourished Medical Inpatients Trial: The EFFORT Trial Completed NCT02517476 Phase 4
33 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
34 Long-Term Therapy With Ribavirin for Chronic Hepatitis C Completed NCT00001854 Phase 4 Ribavirin
35 Dexmedetomidine Addition to Benzodiazepines for Patients With Alcohol Withdrawal Syndrome in the ICU: a Randomised Controlled Study Completed NCT02496650 Phase 4 Dexmedetomidine
36 Treatment Of Alcohol Withdrawal Syndrome: Dexmedetomidine Vs Diazepam In A Hospital O'horán Completed NCT03877120 Phase 4 Dexmedetomidine 0.004 MG/ML;Diazepam Injectable Solution
37 Comparison Of Efficacy Of Two Immunosuppressive Protocols Including Tacrolimus With Or Without Mycophenolate Mofetil In Pediatric Liver Transplantation Aimed In Early Termination Of Steroid Therapy Completed NCT00195988 Phase 4 tacrolimus, steroids, mycophenolate mofetil
38 Phase 4: Study of Ketamine Inhibition of Interleukin 6 in Hepatic Resections Requiring Temporary Porto-arterial Occlusion Completed NCT00978757 Phase 4 Ketamine
39 Efficacy of Intravenous 'L-ornithine L-aspartate' in Reversal of Overt Acute Hepatic Encephalopathy in Patients With Liver Cirrhosis: a Prospective, Randomized, Double-blind, Placebo Controlled Trial Completed NCT01722578 Phase 4 L-ornithine L-aspartate;Placebo
40 Effects of Early Atorvastatin Treatment During the Acute Phase of Stroke on Immunoinflammatory Markers and Outcome in Patients With Acute Ischemic Stroke Classified as LAAS According TOAST Classification Completed NCT02225834 Phase 4 Atorvastatin
41 A Phase IV Study to Evaluate the Primary and Booster Immune Responses of UK Infants Receiving a Licensed 6-in-1 DTaP/IPV/Hib/HBV Vaccine (Infanrix-HexaTM) With a 13-valent Pneumococcal Conjugate Vaccine and Incorporating a Randomisation Study of a Single Dose of 3 Different Meningococcal Group C Conjugate Vaccines at 3 Months of Age Completed NCT01896596 Phase 4
42 The Use of Human Albumin for the Treatment of Ascites in Patients With Hepatic Cirrhosis: a Multicenter, Open-label Randomized Clinical Trial Completed NCT01288794 Phase 4 Diuretics plus human albumin;Diuretics (standard medical treatment)
43 Treatment of Hepatocellular Carcinoma (HCC)by Selective Traditional Chemoembolization(TACE)Versus Selective TACE Via Microspheres Loaded With Doxorubicin: a Multicentre,Randomized,Open Label,Controlled Study. Completed NCT00936689 Phase 4
44 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial To Evaluate The Efficacy, Safety, And Pharmacokinetics Of Rifaximin 550 Mg In Subjects With Severe Hepatic Impairment And Overt Hepatic Encephalopathy Recruiting NCT01846663 Phase 4 Placebo;Rifaximin
45 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
46 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
47 Randomized, Multicenter, Open -Label Clinical Trial to Study the Effect of Adding on Pegylated Interferon Therapy for Patients Diagnosed With Chronic Hepatitis B Showing Maintained Response While Receiving Ongoing Nucleotide Analogues Recruiting NCT02982837 Phase 4 PEG-IFN & Nucleos(t)tide analogues;Nucleos(t)tide analogues
48 Functional MRI-based Assessment of Terlipressin vs. Octreotide on Renal Function in Cirrhotic Patients With Acute Variceal Bleeding (CHESS1903): A Multicenter, Single-blind, Randomised Controlled Trial Recruiting NCT04028323 Phase 4 Terlipressin;Octreotide
49 IV vs. Oral Acetaminophen as a Component of Multimodal Analgesia After Total Hip Arthroplasty: a Randomized, Blinded Trial Recruiting NCT03020966 Phase 4 Acetaminophen;Acetaminophen
50 Effectiveness of Booster Vaccination With 1 or 2 Doses of Hepatitis A Vaccine Among HIV-infected Patients During an Ongoing Outbreak in Taiwan Recruiting NCT03855176 Phase 4 Vaqta Injectable Product

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:

Liver, Testes, Kidney, Bone, Brain, Bone Marrow, Heart

Publications for Infantile Liver Failure Syndrome 1

Articles related to Infantile Liver Failure Syndrome 1:

(show top 50) (show all 181)
# Title Authors PMID Year
Identification of a mutation in LARS as a novel cause of infantile hepatopathy. 8 71
22607940 2012
Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency. 38
30349989 2019
Loss of Leucyl-tRNA synthetase b leads to ILFS1-like symptoms in zebrafish. 38
30262142 2018
[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1]. 38
28774368 2017
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS. 38
25917789 2015
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. 9
19900589 2010
Oral medications with significant hepatic metabolism at higher risk for hepatic adverse events. 9
19839004 2010
The unfolding clinical spectrum of POLG mutations. 9
19578034 2009
Hemodynamic effects of albumin dialysis in patients with liver failure: for better or for worse? 9
19788454 2009
Albumin dialysis in liver failure: comparison of molecular adsorbent recirculating system and single pass albumin dialysis--a retrospective analysis. 9
19788459 2009
Effect of extracorporeal liver support by molecular adsorbents recirculating system and Prometheus on redox state of albumin in acute-on-chronic liver failure. 9
19788461 2009
Increase of octanoate concentrations during extracorporeal albumin dialysis treatments. 9
19788462 2009
Albumin dialysis MARS: knowledge from 10 years of clinical investigation. 9
19730006 2009
[Role of resistin in inflammation of hepatocytes in nonalcoholic steatohepatitis]. 9
19785957 2009
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. 9
19389488 2009
[Analysis of prognostic factors for patients with acute-on-chronic liver failure]. 9
19719920 2009
Effective bilirubin reduction by single-pass albumin dialysis in liver failure. 9
19624591 2009
Alterations in the functional capacity of albumin in patients with decompensated cirrhosis is associated with increased mortality. 9
19642174 2009
Prevention of hepatocarcinogenesis and increased susceptibility to acetaminophen-induced liver failure in transaldolase-deficient mice by N-acetylcysteine. 9
19436114 2009
Clinical features and predictors of outcome in acute hepatitis A and hepatitis E virus hepatitis on cirrhosis. 9
19267864 2009
Role of artificial liver support in hepatic encephalopathy. 9
19101787 2009
Albumin dialysis improves hepatic encephalopathy and decreases circulating phenolic aromatic amino acids in patients with alcoholic hepatitis and severe liver failure. 9
19175915 2009
A simple, noninvasively determined index predicting hepatic failure following liver resection for hepatocellular carcinoma. 9
19082913 2009
Relationships of serum haptoglobin concentration with HbA1c and glycated albumin concentrations in Japanese type 2 diabetic patients. 9
19072031 2009
Prospective validation of the "fifty-fifty" criteria as an early and accurate predictor of death after liver resection in intensive care unit patients. 9
19106687 2009
The use of the molecular adsorbent recirculating system (MARS) albumin dialysis for the treatment of liver failure: a nursing perpective. 9
19953756 2009
[Cholestasis and liver dysfunction in critical care patients]. 9
18989650 2008
Predictive factors associated with the progression to hepatic failure caused by lamivudine-resistant HBV. 9
18618250 2008
Re: Recombinant human hepatocyte growth factor for liver failure. 9
18812237 2008
The use of regional citrate anticoagulation for continuous venovenous hemodiafiltration in acute kidney injury. 9
18824904 2008
Improvement of impaired albumin binding capacity in acute-on-chronic liver failure by albumin dialysis. 9
18756471 2008
Recombinant human hepatocyte growth factor for liver failure. 9
18554990 2008
Recombinant human growth hormone increases albumin and prolongs survival in patients with chronic liver failure: a pilot open, randomized, and controlled clinical trial. 9
18164672 2008
Thermodynamic considerations in solid adsorption of bound solutes for patient support in liver failure. 9
18638303 2008
Oxidative damage of albumin in advanced liver disease. 9
18498776 2008
Clinical impact of serum transforming growth factor-alpha mRNA as a predictive biomarker for the prognosis of fulminant hepatitis. 9
19669307 2008
Relationship between daily dose of oral medications and idiosyncratic drug-induced liver injury: search for signals. 9
18454504 2008
Correction of disturbed pathophysiology of hepatic failure by albumin dialysis. 9
18234633 2008
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. 9
18205204 2008
Case report: fatal hepatic failure after aortic valve replacement and sevoflurane exposure. 9
17975238 2007
Albumin dialysis: an update. 9
18089976 2007
[Therapeutic effect of the latest extracorporal elimination procedure (Prometheus treatment) in acute liver failure caused by intoxication]. 9
17932004 2007
[Establishment of a D-galactosamine/lipopolysaccharide induced acute-on-chronic liver failure model in rats]. 9
17963606 2007
Malarial hepatitis as a component of multiorgan failure--a bad prognostic sign. 9
17915792 2007
Technology insight: artificial extracorporeal liver support--how does Prometheus compare with MARS? 9
17457360 2007
Serum hepatocyte growth factor and vascular endothelial growth factor in children with acute liver failure. 9
17255836 2007
Bench-to-bedside review: current evidence for extracorporeal albumin dialysis systems in liver failure. 9
17567927 2007
Acute liver failure due to leptospirosis successfully treated with MARS (molecular adsorbent recirculating system) dialysis. 9
17203354 2007
Extracorporeal liver support: a continuing challenge. 9
17284306 2007
[The clinical experience with MARS and Prometheus procedures]. 9
17724911 2007

Variations for Infantile Liver Failure Syndrome 1

ClinVar genetic disease variations for Infantile Liver Failure Syndrome 1:

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LARS1 NM_020117.11(LARS1): c.1118A> G (p.Tyr373Cys) single nucleotide variant Pathogenic rs201861847 5:145533491-145533491 5:146153928-146153928
2 LARS1 NM_020117.11(LARS1): c.1292T> A (p.Val431Asp) single nucleotide variant Uncertain significance rs150429680 5:145531558-145531558 5:146151995-146151995
3 LARS1 NM_020117.11(LARS1): c.242G> T (p.Gly81Val) single nucleotide variant Uncertain significance 5:145551525-145551525 5:146171962-146171962

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

# 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

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

# Super pathways Score Top Affiliating Genes
1 10.27 F2 ALB

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 GPT ALB

Sources for Infantile Liver Failure Syndrome 1

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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