MCID: INF145
MIFTS: 24

Infantile Liver Failure Syndrome 1

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

Aliases & Classifications for Infantile Liver Failure Syndrome 1

MalaCards integrated aliases for Infantile Liver Failure Syndrome 1:

Name: Infantile Liver Failure Syndrome 1 54 50 71 29 69
Acute Infantile Liver Failure-Multisystemic Involvement Syndrome 50 56
Liver Failure 42 69
Ilfs1 71

Characteristics:

Orphanet epidemiological data:

56
acute infantile liver failure-multisystemic involvement syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
patients develop acute symptoms under physiologic stress due to illness
patients may show intermittent signs of improvement
clinical features other than liver findings may vary
one family of irish traveller descent described (last curated september 2013)


HPO:

32
infantile liver failure syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
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 acute liver failure and infantile liver failure syndrome 2, and has symptoms including failure to thrive, hepatomegaly and seizures. 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:

Infantile Liver Failure Syndrome 2 Infantile Liver Failure Syndrome 1
Liver Failure, Transient Infantile Acute Liver Failure

Diseases related to Infantile Liver Failure Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 acute liver failure 12.3
2 infantile liver failure syndrome 2 10.8
3 liver failure, transient infantile 10.8

Symptoms & Phenotypes for Infantile Liver Failure Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Metabolic Features:
lactic acidosis

Hematology:
macrocytic anemia
coagulopathy

Head And Neck- Face:
frontal bossing (in one patient)
chubby cheeks (in one patient)

Genitourinary- Kidneys:
renal dysfunction

Skeletal- Feet:
long toes (in one patient)

Neurologic- Central Nervous System:
hypotonia
developmental delay
seizures
abnormal mri findings
gross motor delay (in some patients)
more
Abdomen- Liver:
steatosis
fibrosis
liver failure
abnormal liver function tests
hepatocyte ballooning
more
Head And Neck- Head:
microcephaly (in one patient)

Head And Neck- Ears:
hearing loss, sensorineural (in one patient)

Skeletal- Hands:
long fingers (in one patient)
abnormal thumbs (in one patient)

Muscle Soft Tissue:
decreased muscle bulk (in one patient)
congenital myopathy (in one patient)


Clinical features from OMIM:

615438

Human phenotypes related to Infantile Liver Failure Syndrome 1:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 hepatomegaly 32 HP:0002240
3 seizures 32 HP:0001250
4 microcephaly 32 HP:0000252
5 anemia 32 HP:0001903
6 frontal bossing 32 occasional (7.5%) HP:0002007
7 global developmental delay 32 HP:0001263
8 lactic acidosis 32 HP:0003128
9 long fingers 32 occasional (7.5%) HP:0100807
10 full cheeks 32 occasional (7.5%) HP:0000293
11 hepatic steatosis 32 HP:0001397
12 muscular hypotonia 32 HP:0001252
13 acute hepatic failure 32 HP:0006554
14 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
15 macrocytic anemia 32 HP:0001972
16 delayed gross motor development 32 occasional (7.5%) HP:0002194
17 elevated hepatic transaminases 32 HP:0002910
18 long toe 32 occasional (7.5%) HP:0010511
19 abnormality of the coagulation cascade 32 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:

id Genetic test Affiliating Genes
1 Infantile Liver Failure Syndrome 1 29

Anatomical Context for Infantile Liver Failure Syndrome 1

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

39
Liver, Testes

Publications for Infantile Liver Failure Syndrome 1

Variations for Infantile Liver Failure Syndrome 1

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

71
id 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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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