ILFS1
MCID: INF145
MIFTS: 50

Infantile Liver Failure Syndrome 1 (ILFS1)

Categories: Blood diseases, Bone 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 56 52 73 29 6 71
Acute Infantile Liver Failure-Multisystemic Involvement Syndrome 52 58
Liver Failure 43 71
Ilfs1 56 73
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:

56
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

NIH Rare Diseases : 52 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. 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 Exenatide and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and brain, and related phenotypes are sensorineural hearing impairment and full cheeks

UniProtKB/Swiss-Prot : 73 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
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 814)
# Related Disease Score Top Affiliating Genes
1 acute liver failure 33.0 SLC17A5 GPT F2 ALB
2 hepatorenal syndrome 31.8 GPT F2 ALB
3 hepatitis a 31.8 GPT F2 ALB
4 alpha-1-antitrypsin deficiency 31.8 GPT F2 ALB
5 portal hypertension 31.7 GPT F2 ALB
6 wilson disease 31.7 GPT F2 ALB
7 biliary atresia 31.6 GPT F2 ALB
8 bile duct disease 31.6 GPT F2 ALB
9 hepatitis 31.6 SLC17A5 GPT F2
10 cholangitis, primary sclerosing 31.6 GPT F2 ALB
11 fatty liver disease 31.4 SLC17A5 GPT ALB
12 hepatic coma 31.2 GPT F2 ALB
13 hepatic encephalopathy 31.1 SLC17A5 GPT F2 ALB
14 autoimmune hepatitis 30.9 SLC17A5 GPT F2 ALB
15 intracranial hypertension 30.9 F2 ALB
16 primary biliary cirrhosis 30.9 SLC17A5 GPT F2 ALB
17 hepatitis b 30.9 SLC17A5 GPT F2 ALB
18 alcoholic hepatitis 30.8 SLC17A5 GPT F2 ALB
19 hepatitis e 30.5 GPT F2 ALB
20 liver disease 30.3 SLC17A5 GPT FECH FAH F2 ALB
21 acute kidney failure 30.3 GPT F2 ALB
22 exanthem 30.1 GPT F2 ALB
23 respiratory failure 30.1 GPT F2 ALB
24 metabolic acidosis 30.0 GPT F2 ALB
25 hepatoportal sclerosis 30.0 GPT F2
26 drug-induced hepatitis 30.0 GPT F2 ALB
27 reye syndrome 30.0 GPT ALB
28 esophageal varix 29.9 GPT F2 ALB
29 drug allergy 29.9 GPT ALB
30 active peptic ulcer disease 29.9 F2 ALB
31 viral hepatitis 29.9 SLC17A5 GPT F2 ALB
32 dengue hemorrhagic fever 29.8 GPT F2 ALB
33 fatty liver disease, nonalcoholic 1 29.8 SLC17A5 GPT
34 cholecystitis 29.8 GPT F2 ALB
35 sclerosing cholangitis 29.8 GPT F2 ALB
36 hepatitis d 29.8 GPT F2
37 urea cycle disorder 29.7 FAH ALB
38 tricuspid valve insufficiency 29.7 F2 ALB
39 acute cystitis 29.7 GPT F2 ALB
40 protein-energy malnutrition 29.7 GPT ALB
41 hepatic infarction 29.7 GPT F2 ALB
42 non-a-e hepatitis 29.6 F2 ALB
43 cholestasis 29.6 SLC17A5 GPT F2 ALB
44 scrub typhus 29.6 SLC17A5 GPT
45 epidural abscess 29.5 F2 ALB
46 bilirubin metabolic disorder 29.5 SLC17A5 GPT F2 ALB
47 granulomatous hepatitis 29.5 GPT ALB
48 cholelithiasis 29.5 GPT ALB
49 volvulus of midgut 29.5 GPT ALB
50 babesiosis 29.4 GPT ALB

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 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
2 full cheeks 31 occasional (7.5%) HP:0000293
3 frontal bossing 31 occasional (7.5%) HP:0002007
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 global developmental delay 31 HP:0001263
8 hepatomegaly 31 HP:0002240
9 microcephaly 31 HP:0000252
10 failure to thrive 31 HP:0001508
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:

56
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

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 512)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
2
Liraglutide Approved Phase 4 204656-20-2 44147092
3
Lixisenatide Approved Phase 4 320367-13-3
4
Caspofungin Approved Phase 4 162808-62-0, 179463-17-3 2826718 468682
5
Nevirapine Approved Phase 4 129618-40-2 4463
6
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
7
Mycophenolic acid Approved Phase 4 24280-93-1 446541
8
Promethazine Approved, Investigational Phase 4 60-87-7 4927
9
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
10
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
11
Norfloxacin Approved Phase 4 70458-96-7 4539
12
Ethanol Approved Phase 4 64-17-5 702
13
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
14
Histamine Approved, Investigational Phase 4 51-45-6 774
15
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
16
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
17
Colchicine Approved Phase 4 64-86-8 2833 6167
18
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
19
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
20
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
21
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
22
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
23
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
24
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
25
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
26
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
27
Haloperidol Approved Phase 4 52-86-8 3559
28
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
29
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
30
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
31
Atorvastatin Approved Phase 4 134523-00-5 60823
32
Epirubicin Approved Phase 4 56420-45-2 41867
33 Ethiodized oil Approved, Investigational Phase 4 8008-53-5
34
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
35
Norepinephrine Approved Phase 4 51-41-2 439260
36
Terlipressin Approved, Investigational Phase 4 14636-12-5 72081
37
Acetaminophen Approved Phase 4 103-90-2 1983
38
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
39
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
40
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
41
Pentoxifylline Approved, Investigational Phase 4 6493-05-6 4740
42
Ceftriaxone Approved Phase 4 73384-59-5 5361919 5479530
43
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
44
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
45
Metformin Approved Phase 4 657-24-9 14219 4091
46
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
47
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
48
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
49
Ornithine Approved, Nutraceutical Phase 4 70-26-8, 3184-13-2 6262
50
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960

Interventional clinical trials:

(show top 50) (show all 725)
# 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 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
6 Development of an Imaging Biomarker for Hepatic Fibrosis Using Gadoxetate Disodium Unknown status NCT01783314 Phase 4
7 The Effect of the GLP-1 Receptor Agonists on Blood Levels of Lipoprotein (a) Unknown status NCT02501850 Phase 4 Liraglutide;metformin
8 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 Unknown status NCT02982837 Phase 4 PEG-IFN & Nucleos(t)tide analogues;Nucleos(t)tide analogues
9 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
10 Pharmacokinetics of Caspofungin After One Dose in Patients With Liver Failure Completed NCT01968395 Phase 4 Caspofungin 70 mg
11 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)
12 A Pharmacokinetic Study to Assess Nevirapine Levels in HIV-infected Patients With Impaired Hepatic Function Completed NCT00144248 Phase 4 nevirapine
13 Intravenous Lipid Emulsions and Liver Function in Adult Chronic Intestinal Failure Patients: New Results After 5 Years. Completed NCT04347902 Phase 4 Intravenous Lipid Emulsion
14 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
15 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;Lactulose
16 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
17 Four Parenteral Lipid Emulsions and the Liver Function Completed NCT03044639 Phase 4 Lipid Emulsions, Intravenous
18 Efficacy and Safety of Intravenous Tramadol Versus Intravenous Paracetamol for Relief of Acute Pain of Primary Dysmenorrhea: A Randomized Controlled Trial Completed NCT03509740 Phase 4 tramadol;paracetamol
19 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
20 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
21 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
22 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
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 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
25 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
26 Evaluating the Pharmacokinetic Profile of Hydromorphone in Chronic Pain Patients Taking Hydrocodone/APAP Completed NCT01517295 Phase 4 Hydrocodone
27 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
28 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
29 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
30 Comparison of Daily Norfloxacin Versus Weekly Ciprofloxacin for the Prevention of Spontaneous Bacterial Peritonitis in Cirrhotic Patients Completed NCT01542801 Phase 4 Norfloxacin;ciprofloxacin
31 Pilot Trial of Use of DMPA Injection and High Dose MPA Tablets in Outpatient Completed NCT01148420 Phase 4 Medroxyprogesterone 17-Acetate;medroxyprogesterone acetate
32 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
33 The Effect of A-lipoic Acid (ALA) on Fatty Acid-induced Impairment of Glucose-stimulated Insulin Secretion Completed NCT01056497 Phase 4 alpha lipoic acid
34 Effect of Early Nutritional Therapy on Frailty, Functional Outcomes and Recovery of Undernourished Medical Inpatients Trial: The EFFORT Trial Completed NCT02517476 Phase 4
35 Absorption of Orally Ingested Phosphate in Head and Neck Cancer Patients With and Without Refeeding Syndrome Completed NCT02880072 Phase 4
36 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
37 Comparative FK506 Drug Levels of Once Daily Advagraf in First Nations and Caucasian Patients With Liver Transplants Completed NCT04237246 Phase 4 Tacrolimus
38 Dexmedetomidine Addition to Benzodiazepines for Patients With Alcohol Withdrawal Syndrome in the ICU: a Randomised Controlled Study Completed NCT02496650 Phase 4 Dexmedetomidine
39 Long-Term Therapy With Ribavirin for Chronic Hepatitis C Completed NCT00001854 Phase 4 Ribavirin
40 Phase 4: Study of Ketamine Inhibition of Interleukin 6 in Hepatic Resections Requiring Temporary Porto-arterial Occlusion Completed NCT00978757 Phase 4 Ketamine
41 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
42 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
43 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
44 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
45 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
46 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)
47 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
48 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)
49 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
50 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

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, Testes, Brain, Kidney, Bone, 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
1
Identification of a mutation in LARS as a novel cause of infantile hepatopathy. 56 6
22607940 2012
2
Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency. 61
30349989 2019
3
Loss of Leucyl-tRNA synthetase b leads to ILFS1-like symptoms in zebrafish. 61
30262142 2018
4
[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1]. 61
28774368 2017
5
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS. 61
25917789 2015
6
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. 54
19900589 2010
7
Oral medications with significant hepatic metabolism at higher risk for hepatic adverse events. 54
19839004 2010
8
The unfolding clinical spectrum of POLG mutations. 54
19578034 2009
9
Hemodynamic effects of albumin dialysis in patients with liver failure: for better or for worse? 54
19788454 2009
10
Albumin dialysis in liver failure: comparison of molecular adsorbent recirculating system and single pass albumin dialysis--a retrospective analysis. 54
19788459 2009
11
Effect of extracorporeal liver support by molecular adsorbents recirculating system and Prometheus on redox state of albumin in acute-on-chronic liver failure. 54
19788461 2009
12
Increase of octanoate concentrations during extracorporeal albumin dialysis treatments. 54
19788462 2009
13
Albumin dialysis MARS: knowledge from 10 years of clinical investigation. 54
19730006 2009
14
[Role of resistin in inflammation of hepatocytes in nonalcoholic steatohepatitis]. 54
19785957 2009
15
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. 54
19389488 2009
16
[Analysis of prognostic factors for patients with acute-on-chronic liver failure]. 54
19719920 2009
17
Effective bilirubin reduction by single-pass albumin dialysis in liver failure. 54
19624591 2009
18
Alterations in the functional capacity of albumin in patients with decompensated cirrhosis is associated with increased mortality. 54
19642174 2009
19
Prevention of hepatocarcinogenesis and increased susceptibility to acetaminophen-induced liver failure in transaldolase-deficient mice by N-acetylcysteine. 54
19436114 2009
20
Clinical features and predictors of outcome in acute hepatitis A and hepatitis E virus hepatitis on cirrhosis. 54
19267864 2009
21
Role of artificial liver support in hepatic encephalopathy. 54
19101787 2009
22
Albumin dialysis improves hepatic encephalopathy and decreases circulating phenolic aromatic amino acids in patients with alcoholic hepatitis and severe liver failure. 54
19175915 2009
23
A simple, noninvasively determined index predicting hepatic failure following liver resection for hepatocellular carcinoma. 54
19082913 2009
24
Relationships of serum haptoglobin concentration with HbA1c and glycated albumin concentrations in Japanese type 2 diabetic patients. 54
19072031 2009
25
The use of the molecular adsorbent recirculating system (MARS) albumin dialysis for the treatment of liver failure: a nursing perpective. 54
19953756 2009
26
Prospective validation of the "fifty-fifty" criteria as an early and accurate predictor of death after liver resection in intensive care unit patients. 54
19106687 2009
27
[Cholestasis and liver dysfunction in critical care patients]. 54
18989650 2008
28
The use of regional citrate anticoagulation for continuous venovenous hemodiafiltration in acute kidney injury. 54
18824904 2008
29
Re: Recombinant human hepatocyte growth factor for liver failure. 54
18812237 2008
30
Predictive factors associated with the progression to hepatic failure caused by lamivudine-resistant HBV. 54
18618250 2008
31
Recombinant human hepatocyte growth factor for liver failure. 54
18554990 2008
32
Improvement of impaired albumin binding capacity in acute-on-chronic liver failure by albumin dialysis. 54
18756471 2008
33
Thermodynamic considerations in solid adsorption of bound solutes for patient support in liver failure. 54
18638303 2008
34
Oxidative damage of albumin in advanced liver disease. 54
18498776 2008
35
Recombinant human growth hormone increases albumin and prolongs survival in patients with chronic liver failure: a pilot open, randomized, and controlled clinical trial. 54
18164672 2008
36
Clinical impact of serum transforming growth factor-alpha mRNA as a predictive biomarker for the prognosis of fulminant hepatitis. 54
19669307 2008
37
Relationship between daily dose of oral medications and idiosyncratic drug-induced liver injury: search for signals. 54
18454504 2008
38
Correction of disturbed pathophysiology of hepatic failure by albumin dialysis. 54
18234633 2008
39
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. 54
18205204 2008
40
Albumin dialysis: an update. 54
18089976 2007
41
Case report: fatal hepatic failure after aortic valve replacement and sevoflurane exposure. 54
17975238 2007
42
[Therapeutic effect of the latest extracorporal elimination procedure (Prometheus treatment) in acute liver failure caused by intoxication]. 54
17932004 2007
43
[Establishment of a D-galactosamine/lipopolysaccharide induced acute-on-chronic liver failure model in rats]. 54
17963606 2007
44
Technology insight: artificial extracorporeal liver support--how does Prometheus compare with MARS? 54
17457360 2007
45
Malarial hepatitis as a component of multiorgan failure--a bad prognostic sign. 54
17915792 2007
46
Serum hepatocyte growth factor and vascular endothelial growth factor in children with acute liver failure. 54
17255836 2007
47
Bench-to-bedside review: current evidence for extracorporeal albumin dialysis systems in liver failure. 54
17567927 2007
48
Acute liver failure due to leptospirosis successfully treated with MARS (molecular adsorbent recirculating system) dialysis. 54
17203354 2007
49
[The clinical experience with MARS and Prometheus procedures]. 54
17724911 2007
50
Extracorporeal liver support: a continuing challenge. 54
17284306 2007

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 GRCh37 Pos GRCh38 Pos
1 LARS1 NM_020117.11(LARS1):c.1118A>G (p.Tyr373Cys)SNV Pathogenic 65476 rs201861847 5:145533491-145533491 5:146153928-146153928
2 LARS1 NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)SNV Uncertain significance 431849 rs150429680 5:145531558-145531558 5:146151995-146151995
3 LARS1 NM_020117.11(LARS1):c.242G>T (p.Gly81Val)SNV Uncertain significance 561050 rs1561495759 5:145551525-145551525 5:146171962-146171962
4 LARS1 NM_020117.11(LARS1):c.245A>G (p.Lys82Arg)SNV Benign 138077 rs112954500 5:145551522-145551522 5:146171959-146171959

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

73
# 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

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11 DGIdb
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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