ILFS1
MCID: INF145
MIFTS: 25

Infantile Liver Failure Syndrome 1 (ILFS1) malady

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

Aliases & Classifications for Infantile Liver Failure Syndrome 1

Aliases & Descriptions for Infantile Liver Failure Syndrome 1:

Name: Infantile Liver Failure Syndrome 1 54 50 66 29 69
Acute Infantile Liver Failure-Multisystemic Involvement Syndrome 50 56
Liver Failure 42 69
Ilfs1 66

Characteristics:

Orphanet epidemiological data:

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

HPO:

32
infantile liver failure syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare hepatic diseases


External Ids:

OMIM 54 615438
Orphanet 56 ORPHA370088
ICD10 via Orphanet 34 K72.0
MedGen 40 C3809522
MeSH 42 D017093

Summaries for Infantile Liver Failure Syndrome 1

UniProtKB/Swiss-Prot : 66 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 seizures, frontal bossing and muscular hypotonia. An important gene associated with Infantile Liver Failure Syndrome 1 is LARS (Leucyl-TRNA Synthetase). The drugs Acetylcysteine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include liver.

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 by clinical synopsis from OMIM:

615438

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 seizures 32 HP:0001250
2 frontal bossing 32 HP:0002007
3 muscular hypotonia 32 HP:0001252
4 failure to thrive 32 HP:0001508
5 global developmental delay 32 HP:0001263
6 hepatomegaly 32 HP:0002240
7 microcephaly 32 HP:0000252
8 sensorineural hearing impairment 32 HP:0000407
9 full cheeks 32 HP:0000293
10 anemia 32 HP:0001903
11 hepatic steatosis 32 HP:0001397
12 elevated hepatic transaminases 32 HP:0002910
13 lactic acidosis 32 HP:0003128
14 acute hepatic failure 32 HP:0006554
15 macrocytic anemia 32 HP:0001972
16 delayed gross motor development 32 HP:0002194
17 long fingers 32 HP:0100807
18 long toe 32 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

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

(show all 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
rituximab Approved Phase 2 174722-31-7 10201696
7
Thiotepa Approved Phase 2 52-24-4 5453
8
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
9 Alkylating Agents Phase 2
10 Antilymphocyte Serum Phase 2
11 Antimetabolites Phase 2
12 Antimetabolites, Antineoplastic Phase 2
13 Antineoplastic Agents, Alkylating Phase 2
14 Immunosuppressive Agents Phase 2
15 N-monoacetylcystine Phase 2
16 Thioctic Acid Phase 2
17 Tocopherols Phase 2
18 Tocotrienols Phase 2
19 Vitamins Phase 2
20 Alpha-lipoic Acid Nutraceutical Phase 2
21 Tocopherol Nutraceutical Phase 2
22 Tocotrienol Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2

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:

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

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:

66
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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