MCID: INF145
MIFTS: 33

Infantile Liver Failure Syndrome 1

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

Aliases & Classifications for Infantile Liver Failure Syndrome 1

MalaCards integrated aliases for Infantile Liver Failure Syndrome 1:

Name: Infantile Liver Failure Syndrome 1 53 49 71 28 69
Acute Infantile Liver Failure-Multisystemic Involvement Syndrome 49 55
Liver Failure 41 69
Ilfs1 53 71

Characteristics:

Orphanet epidemiological data:

55
acute infantile liver failure-multisystemic involvement syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
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: 55  
Rare hepatic diseases


Summaries for Infantile Liver Failure Syndrome 1

UniProtKB/Swiss-Prot : 71 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, frontal bossing and failure to thrive. An important gene associated with Infantile Liver Failure Syndrome 1 is LARS (Leucyl-TRNA Synthetase). Affiliated tissues include liver and testes.

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:

53
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:

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

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 28 LARS

Anatomical Context for Infantile Liver Failure Syndrome 1

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

38
Liver, Testes

Publications for Infantile Liver Failure Syndrome 1

Articles related to Infantile Liver Failure Syndrome 1:

(show top 50) (show all 1151)
# Title Authors Year
1
Acute Liver Failure due to Amanita phalloides Poisoning: Therapeutic Approach and Outcome. ( 29407307 )
2018
2
Drug idiosyncrasy due to pirfenidone presenting as acute liver failure: Case report and mini-review of the literature. ( 29404521 )
2018
3
Identification of key candidate genes and pathways in hepatitis B virus-associated acute liver failure by bioinformatical analysis. ( 29384847 )
2018
4
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
5
Hepatitis A, cardiomyopathy, aplastic anemia, and acute liver failure: A devastating scenario. ( 29359844 )
2018
6
Neutralization of CD95 ligand protects the liver against ischemia-reperfusion injury and prevents acute liver failure. ( 29374146 )
2018
7
Acute Liver Failure in an Adolescent Male Induced by Human Herpesvirus 6 (HHV-6): A Case Report With Literature Review. ( 29390152 )
2018
8
Human liver organoids generated with single donor-derived multiple cells rescue mice from acute liver failure. ( 29321049 )
2018
9
SCYL1 variants cause a syndrome with low I^-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). ( 29419818 )
2018
10
Association Between Grade of Acute on Chronic Liver Failure and Response to Terlipressin and Albumin in Patients With Hepatorenal Syndrome. ( 29391267 )
2018
11
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
12
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
13
Endoplasmic reticulum stress restrains hepatocyte growth factor expression in hepatic stellate cells and rat acute liver failure model. ( 28844859 )
2017
14
Liver transplantation is associated with good clinical outcome in patients with active tuberculosis and acute liver failure due to anti-tubercular treatment. ( 28054732 )
2017
15
Serum soluble ST2 is a promising prognostic biomarker in HBV-related acute-on-chronic liver failure. ( 28381383 )
2017
16
Autoimmune acute liver failure and seronegative autoimmune liver disease in children: Are they different from classical disease? ( 28914695 )
2017
17
From stable disease to acute-on-chronic liver failure: Circulating cytokines are related to prognosis in different stages of cirrhosis. ( 28082235 )
2017
18
Budd-chiari syndrome and acute liver failure: A complex condition requiring a rapid response. ( 28006871 )
2017
19
Acute Liver Failure due to Trazodone and Diazepam. ( 28848778 )
2017
20
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype. ( 28031453 )
2017
21
NBAS mutations cause acute liver failure: when acetaminophen is not a culprit. ( 28946922 )
2017
22
American Gastroenterological Association Institute Guidelines for the Diagnosis and Management of Acute Liver Failure. ( 28056348 )
2017
23
Correlation between plasma endothelin-1 levels and severity of septic liver failure quantified by maximal liver function capacity (LiMAx test). A prospective study. ( 28542386 )
2017
24
Prometheus therapy for the treatment of acute liver failure in patients after cardiac surgery. ( 29354174 )
2017
25
Live donor liver transplantation for antitubercular drug-induced acute liver failure. ( 28066854 )
2017
26
Psychosocial and behavioral factors in acetaminophen-related acute liver failure and liver injury. ( 28867424 )
2017
27
Retrospective Identification of Herpes Simplex 2 Virus-Associated Acute Liver Failure in an Immunocompetent Patient Detected Using Whole Transcriptome Shotgun Sequencing. ( 29441209 )
2017
28
Plasma cystatin C is a predictor of renal dysfunction, acute-on-chronic liver failure, and mortality in patients with acutely decompensated liver cirrhosis. ( 28545169 )
2017
29
Acute kidney injury in acute-on-chronic liver failure: where does hepatorenal syndrome fit? ( 28844314 )
2017
30
UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia. ( 28275242 )
2017
31
Acute Liver Failure Due to Echovirus 9 Associated With Persistent B-Cell Depletion From Rituximab. ( 28948184 )
2017
32
Drug-induced acute liver failure in children and adults: Results of a single-centre study of 128 patients. ( 29222960 )
2017
33
Babesiosis Presenting as Acute Liver Failure. ( 29430231 )
2017
34
Continuous renal replacement therapy is associated with reduced serum ammonia levels and mortality in acute liver failure. ( 28859230 )
2017
35
Changes in the Prevalence of Hepatitis C Virus Infection, Non-alcoholic Steatohepatitis, and Alcoholic Liver Disease Among Patients with Cirrhosis or Liver Failure on the Waitlist for Liver Transplantation. ( 28088461 )
2017
36
Delta model for end-stage liver disease and delta clinical prognostic indicator as predictors of mortality in patients with viral acute liver failure. ( 29291180 )
2017
37
Predicting Fluid Responsiveness in Acute Liver Failure: A Prospective Study. ( 27984249 )
2017
38
Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS. ( 28576691 )
2017
39
A rare cause of acute liver failure- a case report. ( 29262779 )
2017
40
Waitlisted Candidates With Polycystic Liver Disease are More Likely to be Transplanted Than Those With Chronic Liver Failure. ( 28296808 )
2017
41
Identifying Brain Dysfunction Among Children With Acute Liver Failure-Can Spectral Electroencephalography Help? ( 28060158 )
2017
42
Acute Liver Failure Due to Etodolac, a Selective Cycloxygenase- 2 (COX -2) Inhibitor Non-Steroidal Anti-Inflammatory Drug Established by RUCAM-Based Causality Assessment. ( 28809737 )
2017
43
Dengue hemorrhagic fever complicated with acute liver failure: a case report. ( 29216924 )
2017
44
Is dengue emerging as important cause of acute liver failure in endemic regions? ( 28798927 )
2017
45
Peak hyperammonemia and atypical acute liver failure: the eruption of an urea cycle disorder during hyperemesis gravidarum. ( 28939132 )
2017
46
Management of Cerebral Edema in Acute Liver Failure. ( 29262439 )
2017
47
Parvovirus B19 Infection in a Fatal Case of Acute Liver Failure. ( 28787384 )
2017
48
Acute liver failure caused by pembrolizumab in a patient with pulmonary metastatic liver cancer: A case report. ( 29390572 )
2017
49
Good outcome of living donor liver transplantation in drug induced acute liver failure: a single centre experience. ( 28054388 )
2017
50
Appropriate timing to start and optimal response evaluation of high-dose corticosteroid therapy for patients with acute liver failure. ( 28078470 )
2017

Variations for Infantile Liver Failure Syndrome 1

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

71
# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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